Q15021
Gene name |
NCAPD2 |
Protein name |
Condensin complex subunit 1 |
Names |
Chromosome condensation-related SMC-associated protein 1, Chromosome-associated protein D2, hCAP-D2, Non-SMC condensin I complex subunit D2, XCAP-D2 homolog |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9918 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q15021
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q15021-F1 | Predicted | AlphaFoldDB |
1186 variants for Q15021
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| VAR_080953 | 8 | F>S | MCPH21; found in two patients from a consanguineous family; unknown pathological significance [UniProt] | Yes | UniProt |
|
CA6408314 rs576859525 RCV001331914 |
389 | T>I | Microcephaly 21, primary, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs145893978 CA6408424 RCV001331915 |
509 | N>S | Microcephaly 21, primary, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA6408816 RCV002533882 rs762710261 RCV000761815 |
883 | E>K | Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001331975 rs1946356525 |
1277 | E>V | Microcephaly 21, primary, autosomal recessive [ClinVar] | Yes |
ClinVar dbSNP |
|
rs149571298 CA6407905 |
2 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs149571298 CA383566583 |
2 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs144221350 CA6407906 |
3 | P>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA383566591 rs144221350 |
3 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6407907 rs368305298 |
5 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs886677060 CA232373222 |
6 | Y>D | No |
ClinGen Ensembl |
|
|
CA383566667 rs1350540486 |
8 | F>C | No |
ClinGen gnomAD |
|
|
CA6407908 rs745475144 |
9 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383566730 rs1296559231 |
13 | S>F | No |
ClinGen gnomAD |
|
|
rs148279081 CA6407909 |
15 | E>K | No |
ClinGen ESP ExAC TOPMed |
|
|
rs777110079 CA6407910 |
15 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383566764 rs1177496044 |
16 | E>K | No |
ClinGen TOPMed |
|
|
CA383566871 rs371605695 |
22 | G>E | No |
ClinGen ESP gnomAD |
|
|
CA232373250 rs371605695 |
22 | G>V | No |
ClinGen ESP gnomAD |
|
|
CA383566889 rs1592162468 |
23 | V>G | No |
ClinGen Ensembl |
|
|
CA6407914 rs61753197 |
23 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6407915 rs766383936 |
24 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1284721438 CA383566928 |
25 | Q>H | No |
ClinGen gnomAD |
|
|
rs781325895 CA6407916 |
26 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA383566932 rs1488373909 |
26 | Y>H | No |
ClinGen gnomAD |
|
|
CA383566957 rs1473056661 |
28 | V>L | No |
ClinGen TOPMed |
|
|
CA232373266 rs887007094 |
30 | E>G | No |
ClinGen TOPMed |
|
| TCGA novel | 31 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759709281 CA6407917 |
31 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA6407919 rs752405691 |
34 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA383567090 rs756144447 |
35 | K>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756144447 CA6407920 |
35 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753741130 CA6407922 |
36 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6407921 rs368159489 |
36 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383567176 rs1420522627 |
40 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA383567196 rs1357181080 |
41 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs139616215 CA6407951 |
43 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139616215 CA6407952 |
43 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6407953 rs530151221 |
44 | F>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA383562254 rs1245055627 |
47 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA383562259 rs1245055627 |
47 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs550146120 CA6407955 |
49 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs550146120 CA6407956 |
49 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6407957 rs775605375 |
49 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383562296 rs1565541020 |
51 | Q>E | No |
ClinGen Ensembl |
|
|
rs760900534 CA6407958 |
51 | Q>R | No |
ClinGen ExAC |
|
|
CA383562327 rs1276479494 |
53 | P>S | No |
ClinGen TOPMed |
|
|
rs1341604062 CA383562340 |
55 | A>T | No |
ClinGen gnomAD |
|
|
CA383562363 rs1565541034 |
56 | M>I | No |
ClinGen Ensembl |
|
|
rs570257017 CA6407960 |
56 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6407962 rs776454415 |
63 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs147643090 CA6407963 |
63 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA383562479 rs776454415 |
63 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA6407965 rs750325794 |
64 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA232384843 rs750325794 |
64 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs750602915 CA6407959 |
64 | Y>G | No |
ClinGen ExAC |
|
|
CA232384844 rs760738086 |
67 | L>V | No |
ClinGen Ensembl |
|
|
rs552513216 CA6407968 |
67 | L>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1038935656 CA232384873 |
69 | H>L | No |
ClinGen Ensembl |
|
|
CA6407984 rs766616615 |
71 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs200920120 CA6407985 COSM1239554 |
71 | R>Q | Variant assessed as Somatic; 0.0 impact. oesophagus large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs370628893 CA6407987 |
73 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6407986 rs765860532 |
73 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1565541157 CA383562724 |
74 | D>G | No |
ClinGen Ensembl |
|
|
CA232384875 rs868593641 |
75 | P>A | No |
ClinGen TOPMed |
|
|
CA232384874 rs868593641 |
75 | P>T | No |
ClinGen TOPMed |
|
|
rs1185299652 CA383562838 |
82 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs714774 CA383562843 |
83 | Q>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs714774 VAR_024421 CA6407989 |
83 | Q>E | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs714774 CA383562842 |
83 | Q>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA383562896 rs1164863276 |
86 | I>M | No |
ClinGen gnomAD |
|
|
CA232384905 rs79122711 |
90 | S>P | No |
ClinGen Ensembl |
|
|
rs761217214 CA6408088 |
91 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs12424437 CA6408089 |
91 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383563394 rs1232384445 |
93 | S>F | No |
ClinGen gnomAD |
|
|
CA383563406 rs1487479800 |
94 | Q>L | No |
ClinGen TOPMed |
|
|
rs762152072 CA6408091 |
98 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1422757934 CA383563473 |
99 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs766111488 CA6408095 |
101 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA6408093 rs750588842 |
101 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6408094 rs750588842 |
101 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149674449 CA232384906 |
102 | D>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA383563523 rs149674449 |
102 | D>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA383563541 rs1490709888 |
103 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA232384908 rs780825688 |
112 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA6408098 COSM942588 rs780825688 |
112 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1344007333 CA383563645 |
115 | N>Y | No |
ClinGen gnomAD |
|
|
CA232384909 rs963200806 |
119 | M>K | No |
ClinGen TOPMed |
|
|
CA6408099 rs747602621 |
120 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1425753082 CA383563709 |
124 | L>V | No |
ClinGen TOPMed |
|
|
CA6408101 rs777295465 |
125 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1367844781 CA383563719 |
126 | R>C | No |
ClinGen TOPMed |
|
|
rs748909515 CA6408102 COSM1216785 |
126 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA383563723 rs748909515 |
126 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA383563725 rs1166992985 |
127 | L>V | No |
ClinGen TOPMed |
|
|
CA6408103 rs772587843 |
130 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA383563753 rs1206859786 |
131 | F>S | No |
ClinGen gnomAD |
|
|
rs574851318 CA6408104 |
132 | E>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs886121001 CA383563761 |
132 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 133 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761677659 CA6408105 |
133 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761677659 CA383563766 |
133 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383563765 rs1373814489 |
133 | T>S | No |
ClinGen TOPMed |
|
|
rs1200050622 CA383563771 |
134 | M>T | No |
ClinGen TOPMed |
|
|
rs372285001 CA232384912 |
134 | M>V | No |
ClinGen Ensembl |
|
|
rs1431180887 CA383563781 |
135 | A>V | No |
ClinGen gnomAD |
|
|
rs1565541527 CA383563810 |
137 | Q>H | No |
ClinGen Ensembl |
|
|
CA383563812 rs769029337 |
138 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769029337 CA6408106 |
138 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1167331822 CA383563865 |
140 | L>R | No |
ClinGen gnomAD |
|
|
CA383563930 rs1365924439 |
143 | L>V | No |
ClinGen gnomAD |
|
|
CA383563958 rs1364528190 |
144 | D>N | No |
ClinGen gnomAD |
|
|
CA6408109 rs761803417 |
145 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383563991 rs761803417 |
145 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761803417 CA383563989 |
145 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6408110 rs769874103 |
146 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs773442258 CA6408111 |
147 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs374658418 CA6408112 |
148 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383564984 rs1241950713 |
149 | G>D | No |
ClinGen gnomAD |
|
|
CA383565002 rs1264359465 |
150 | K>E | No |
ClinGen gnomAD |
|
|
CA6408134 rs546615712 |
152 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6408135 rs566781375 |
153 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA383565072 rs1431522943 |
153 | R>W | No |
ClinGen TOPMed |
|
|
rs149220411 CA232384971 |
155 | K>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA232384973 rs995954491 |
156 | A>V | No |
ClinGen Ensembl |
|
|
CA232384975 rs753271642 |
157 | A>D | No |
ClinGen TOPMed |
|
|
CA383565117 rs753271642 |
157 | A>V | No |
ClinGen TOPMed |
|
|
rs1384416154 CA383565140 |
158 | H>L | No |
ClinGen gnomAD |
|
|
rs763738810 CA6408137 |
159 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753383625 CA6408138 |
160 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6408139 rs756767693 |
161 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1453406635 CA383565174 |
161 | D>N | No |
ClinGen gnomAD |
|
|
rs1334140744 CA383565234 |
163 | E>K | No |
ClinGen gnomAD |
|
|
rs778711579 CA6408140 |
164 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs750056098 CA6408141 |
165 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383565365 rs1418298003 |
167 | Q>H | No |
ClinGen TOPMed |
|
|
CA6408142 rs535712146 |
169 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA383565430 rs1262373982 |
171 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs781594197 CA6408143 |
171 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1461734101 CA383565512 |
174 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs748640904 CA6408144 |
175 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373617147 CA6408145 |
177 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs777889802 CA6408146 |
178 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA232384989 rs892987814 |
180 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs774592106 CA6408149 |
182 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6408150 rs746054013 |
182 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771813237 CA6408151 |
183 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1304604179 CA383565832 |
186 | N>S | No |
ClinGen gnomAD |
|
|
CA383565845 rs1394499311 |
187 | H>Y | No |
ClinGen gnomAD |
|
|
CA383565872 rs1273077875 |
188 | S>T | No |
ClinGen TOPMed |
|
|
rs1308035813 CA383565886 |
189 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6408155 rs776642083 |
190 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1299857568 CA383565923 |
190 | I>T | No |
ClinGen gnomAD |
|
|
rs200260523 CA232385001 |
192 | E>D | No |
ClinGen Ensembl |
|
|
CA232385003 rs146876646 |
193 | E>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs201246236 CA232385006 |
195 | V>A | No |
ClinGen Ensembl |
|
|
CA6408156 rs761438809 |
195 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs1221357870 CA383567377 |
197 | L>F | No |
ClinGen gnomAD |
|
|
CA383567358 rs1365604326 |
197 | L>M | No |
ClinGen TOPMed |
|
|
rs200251936 CA6408173 |
201 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA6408175 rs764879490 |
202 | C>* | No |
ClinGen ExAC gnomAD |
|
|
CA6408174 rs764879490 |
202 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs201733141 CA6408176 |
204 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs374598691 CA6408177 |
204 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374598691 CA383567504 |
204 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6408180 rs756503239 |
210 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM3955060 rs756503239 CA383567618 |
210 | T>S | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs372201069 CA383567684 |
213 | H>D | No |
ClinGen TOPMed |
|
| TCGA novel | 213 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372201069 CA232385710 |
213 | H>Y | No |
ClinGen TOPMed |
|
|
rs540954737 CA232385711 |
214 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs540954737 CA6408181 |
214 | Q>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs202035339 CA6408182 |
217 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs202035339 CA383567781 |
217 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs757733418 CA6408183 |
217 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs201537317 CA6408184 |
218 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6408185 rs192594761 |
219 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA383567841 rs780351586 |
220 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383567846 rs201003099 |
220 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6408188 rs201003099 |
220 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6408187 rs780351586 |
220 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6408189 rs768621167 |
221 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs969476476 CA232385713 |
227 | L>F | No |
ClinGen Ensembl |
|
|
rs748161516 CA6408191 |
228 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140685494 CA232385714 |
228 | G>R | No |
ClinGen ESP |
|
|
rs1480503391 CA383568015 |
229 | V>L | No |
ClinGen TOPMed |
|
|
CA6408193 rs772966919 |
230 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1310626272 CA383568033 |
230 | A>V | No |
ClinGen TOPMed |
|
|
CA6408195 rs770307249 |
231 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs759171639 CA383568074 |
232 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6408196 rs774076450 |
232 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs759171639 CA6408197 |
232 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774076450 CA383568070 |
232 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs764486667 CA6408198 |
233 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6408199 rs754200286 |
233 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1299602043 CA383568135 |
237 | M>I | No |
ClinGen TOPMed |
|
|
rs201164765 CA6408201 |
237 | M>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs750852571 CA6408202 |
237 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201164765 CA383568128 |
237 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA383568153 rs1454247720 |
239 | S>G | No |
ClinGen gnomAD |
|
|
rs956412691 CA232385721 |
244 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1403727114 CA383568271 |
245 | I>F | No |
ClinGen gnomAD |
|
|
CA383568276 rs1482429557 |
245 | I>T | No |
ClinGen TOPMed |
|
|
CA383568312 rs1211770225 |
247 | M>I | No |
ClinGen TOPMed |
|
|
CA383568305 rs1279840454 |
247 | M>L | No |
ClinGen TOPMed |
|
|
CA383568324 rs1565542735 |
248 | L>P | No |
ClinGen Ensembl |
|
|
CA383568382 rs1592171191 |
253 | H>P | No |
ClinGen Ensembl |
|
|
CA6408217 rs762193347 |
254 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA383568396 rs1439529085 |
255 | A>V | No |
ClinGen gnomAD |
|
|
CA383568399 rs1278640183 |
256 | P>S | No |
ClinGen gnomAD |
|
|
rs989028406 CA232385725 |
259 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1336235743 CA383568425 |
260 | A>V | No |
ClinGen TOPMed |
|
|
CA6408222 rs200088499 |
262 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs970529615 CA232385727 |
263 | S>R | No |
ClinGen TOPMed |
|
|
CA383568445 rs1203651851 |
264 | L>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 266 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1436134351 CA383568468 |
267 | T>I | No |
ClinGen TOPMed |
|
|
CA6408224 rs767859123 |
268 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6408226 rs755960209 |
269 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6408228 rs749292483 |
270 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA6408229 rs201656263 |
271 | M>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1257145371 CA383568520 |
274 | I>T | No |
ClinGen TOPMed |
|
|
CA232385730 rs926307259 |
275 | V>A | No |
ClinGen TOPMed |
|
|
CA6408232 rs556672612 |
276 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs756547882 CA6408230 |
277 | E>* | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 277 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771528727 CA6408233 |
277 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1277758609 CA383568547 |
278 | I>T | No |
ClinGen Ensembl |
|
|
rs1486737685 CA383568551 |
279 | V>I | No |
ClinGen TOPMed |
|
|
rs1324618252 CA383568590 |
282 | I>M | No |
ClinGen gnomAD |
|
|
rs140976120 CA6408251 |
285 | K>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6408250 rs778850762 |
285 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs757948141 CA6408252 |
286 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1230855012 CA383568632 |
289 | E>K | No |
ClinGen gnomAD |
|
|
CA6408254 rs746741464 |
292 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA6408255 rs150197479 |
292 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA383568689 rs1477424711 |
293 | D>G | No |
ClinGen gnomAD |
|
|
rs1191451804 CA383568721 COSM298475 |
295 | S>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1445197798 CA383568782 |
299 | G>D | No |
ClinGen gnomAD |
|
|
CA383568807 rs1192467161 |
301 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1192467161 CA383568804 |
301 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6408258 rs764547668 |
302 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6408259 rs775022978 |
305 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA383568898 rs760098665 |
307 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1592171338 CA383568909 |
308 | A>T | No |
ClinGen Ensembl |
|
| TCGA novel | 309 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6408261 rs767746417 |
310 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775710530 CA6408262 |
310 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6408263 rs761020034 |
311 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs754028921 CA383568973 |
312 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs754028921 CA6408265 |
312 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA6408266 rs761533440 |
313 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA383569049 rs1417711545 |
317 | S>C | No |
ClinGen TOPMed |
|
|
CA6408268 rs750396738 |
317 | S>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 318 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383569074 rs1167571753 |
319 | M>V | No |
ClinGen TOPMed |
|
|
CA6408269 rs758323988 |
320 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs779596854 CA6408270 |
321 | I>V | No |
ClinGen ExAC |
|
|
CA6408271 rs751045122 |
325 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA6408272 rs754442022 |
329 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA383570342 rs1347764272 |
330 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA6408286 rs750204852 |
330 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1201695635 CA383570321 |
330 | N>Y | No |
ClinGen gnomAD |
|
|
CA383570386 rs1170651681 |
332 | M>V | No |
ClinGen TOPMed |
|
|
rs762678605 CA6408287 |
334 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6408288 rs771302335 |
334 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 334 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6408290 rs143795587 |
337 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6408289 RCV000923232 rs143795587 |
337 | V>M | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA232386321 rs537119663 |
341 | M>V | No |
ClinGen 1000Genomes TOPMed |
|
|
rs781501861 CA232386322 |
342 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA383570619 rs781501861 |
342 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs147023142 CA6408292 |
344 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1466574928 CA383570640 |
344 | M>V | No |
ClinGen gnomAD |
|
|
CA6408294 rs779481219 |
346 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA6408295 rs779481219 |
346 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA6408297 rs772501599 |
348 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA383570680 rs772501599 |
348 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA232386330 rs748279493 |
350 | S>R | No |
ClinGen Ensembl |
|
|
rs370387241 CA232386335 |
352 | D>G | No |
ClinGen TOPMed |
|
|
rs994613441 CA383570705 |
352 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs994613441 CA232386333 |
352 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA232386341 rs1027786615 |
354 | L>V | No |
ClinGen Ensembl |
|
|
rs138198563 CA6408299 |
358 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768655520 CA6408300 |
359 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA6408301 rs776764263 |
359 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6408302 rs762076491 |
361 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA232386353 rs1016312186 |
362 | R>T | No |
ClinGen TOPMed |
|
|
rs886280771 CA232386355 |
366 | L>F | No |
ClinGen Ensembl |
|
|
CA6408305 rs773356519 |
367 | D>V | No |
ClinGen ExAC |
|
|
rs770015862 CA6408303 |
367 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1190344409 CA383570890 |
369 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
CA383570886 rs1478230124 |
369 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA383570902 rs1413793943 |
370 | Q>* | No |
ClinGen TOPMed |
|
|
CA383570983 rs1267228317 |
373 | G>V | No |
ClinGen gnomAD |
|
|
CA383570990 rs1434263101 |
374 | H>D | No |
ClinGen gnomAD |
|
|
CA383571003 rs1425633175 |
374 | H>R | No |
ClinGen TOPMed |
|
|
CA232386365 rs756476624 |
375 | D>H | No |
ClinGen gnomAD |
|
| TCGA novel | 376 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383571069 rs1371471081 |
377 | N>S | No |
ClinGen gnomAD |
|
|
rs778053909 CA6408307 |
378 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767003306 CA6408310 COSM1639207 |
381 | R>Q | stomach [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA6408309 rs759487830 |
381 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1410769857 CA383571846 |
382 | S>R | No |
ClinGen TOPMed |
|
|
CA6408312 rs1555139353 |
383 | R>C | No |
ClinGen Ensembl |
|
|
CA383571850 rs1565543541 |
383 | R>H | No |
ClinGen Ensembl |
|
|
rs1368142678 CA383571899 |
386 | Q>H | No |
ClinGen gnomAD |
|
|
CA383571937 rs576859525 |
389 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA383571938 rs576859525 |
389 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1325388960 COSM3356344 CA383572014 |
390 | R>* | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs369341180 CA6408316 |
390 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6408317 COSM942591 rs369341180 |
390 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 391 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383572091 rs1356869496 |
393 | Q>R | No |
ClinGen gnomAD |
|
|
CA6408318 rs780431663 |
394 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1181563069 CA383572284 |
396 | A>P | No |
ClinGen gnomAD |
|
|
rs756233720 CA6408341 |
396 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 399 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs143666333 CA383572344 |
399 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6408343 rs749581234 |
399 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs143666333 CA383572341 |
399 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383572360 rs1457721024 |
400 | T>A | No |
ClinGen gnomAD |
|
|
rs968525819 CA232387749 |
400 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA383572366 rs968525819 |
400 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA383572370 rs968525819 |
400 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA6408345 rs771172038 |
401 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6408344 rs771172038 |
401 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745684361 CA6408346 |
401 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs745684361 CA383572385 |
401 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs775593732 CA6408348 |
402 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6408349 rs760671057 |
405 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1329055901 CA383572468 |
406 | V>M | No |
ClinGen gnomAD |
|
|
rs549180267 CA6408350 |
407 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6408351 CA232387762 rs77013243 |
408 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA383572508 rs1209521325 |
409 | A>G | No |
ClinGen gnomAD |
|
|
CA6408352 rs761167790 |
409 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6408353 rs201272617 |
412 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs924298728 CA232387767 |
412 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA383572576 rs924298728 |
412 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs759967466 CA6408355 |
414 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA383572631 rs1161362028 |
415 | D>E | No |
ClinGen gnomAD |
|
|
CA6408356 rs375941071 |
416 | K>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383572648 rs1413344653 |
416 | K>T | No |
ClinGen gnomAD |
|
|
CA232387772 rs756609653 |
418 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA6408358 rs756609653 |
418 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA383572737 rs1592172460 |
421 | C>* | No |
ClinGen Ensembl |
|
|
CA6408359 rs538027698 |
421 | C>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA383572734 rs1350326693 |
421 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA383572743 rs1592172461 |
422 | K>T | No |
ClinGen Ensembl |
|
|
rs1592172465 CA383572777 |
424 | A>P | No |
ClinGen Ensembl |
|
| TCGA novel | 424 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1592172468 CA383572803 |
425 | I>T | No |
ClinGen Ensembl |
|
|
CA383572910 rs1343497371 |
430 | S>I | No |
ClinGen gnomAD |
|
|
CA6408362 rs200578810 |
435 | N>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs746032928 CA6408363 |
435 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA6408364 rs771954995 |
436 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA6408365 rs779988202 |
438 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA383573065 rs1431697126 |
439 | C>R | No |
ClinGen TOPMed |
|
|
CA383573083 rs1406424119 |
439 | C>Y | No |
ClinGen gnomAD |
|
|
CA6408375 rs760972801 |
441 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA6408377 rs373603488 |
442 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs35272924 CA232387813 |
442 | S>T | No |
ClinGen Ensembl |
|
|
rs778841033 CA6408379 |
446 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs773211754 CA6408381 |
448 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141181063 CA6408382 |
449 | P>L | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1182322584 CA383573299 |
451 | Q>R | No |
ClinGen TOPMed |
|
|
CA6408385 rs768529470 |
452 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA6408386 rs781299055 |
454 | T>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 455 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1216788 CA383573375 rs1265969872 |
456 | K>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1592172580 CA383573420 |
458 | Q>* | No |
ClinGen Ensembl |
|
|
CA383573424 rs1389070012 |
458 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA383573453 rs1227652166 |
459 | E>D | No |
ClinGen gnomAD |
|
|
rs748013479 CA6408387 |
460 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1432943755 CA383573533 |
464 | R>K | No |
ClinGen gnomAD |
|
|
COSM1639208 CA6408391 rs749028321 |
465 | R>* | stomach [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA383573553 rs770586366 |
465 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6408392 rs770586366 |
465 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1282208474 CA383573558 COSM942592 |
466 | T>A | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1309035025 CA383573563 |
466 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 467 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1355453495 CA383573584 |
467 | A>V | No |
ClinGen gnomAD |
|
|
rs374668663 CA6408393 |
469 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 471 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1465122570 CA383573689 |
471 | A>V | No |
ClinGen TOPMed |
|
|
rs940447004 CA232387923 |
473 | L>P | No |
ClinGen gnomAD |
|
|
CA383573768 rs1592172677 |
477 | E>K | No |
ClinGen Ensembl |
|
|
CA6408412 rs769053029 |
478 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 478 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6408413 rs776858241 |
479 | W>S | No |
ClinGen ExAC gnomAD |
|
|
CA383573825 rs1592172683 |
480 | E>K | No |
ClinGen Ensembl |
|
|
rs762176392 CA6408414 |
483 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6408415 rs765663001 |
485 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773726183 CA6408416 |
486 | L>W | No |
ClinGen ExAC gnomAD |
|
|
CA383573964 rs1401704535 |
487 | K>T | No |
ClinGen gnomAD |
|
|
CA6408417 rs535745888 |
488 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA383573998 rs1335900412 |
489 | T>I | No |
ClinGen gnomAD |
|
|
rs199590135 CA6408419 |
491 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6408420 rs755245448 |
495 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs150719071 CA6408421 |
497 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1565543899 CA383574178 |
498 | Q>K | No |
ClinGen Ensembl |
|
|
rs1327335415 CA383574303 |
501 | E>D | No |
ClinGen TOPMed |
|
|
CA383574266 rs1230379033 |
501 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs752448560 CA6408423 |
508 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1201891353 CA383574479 |
509 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs375796466 CA232387961 |
516 | V>M | No |
ClinGen TOPMed |
|
|
CA6408425 rs777603676 |
517 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs753729110 CA6408426 |
519 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753729110 CA383574693 |
519 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1374542456 CA383574698 COSM1216786 |
519 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs753729110 CA383574685 |
519 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756811614 CA383574707 |
520 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6408428 rs778368343 |
520 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA6408427 rs756811614 |
520 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1377178791 CA383574745 |
521 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1377178791 CA383574751 |
521 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
rs745591282 CA6408429 |
522 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA383574809 rs1428787448 |
524 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA6408430 rs771633449 |
525 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748489930 CA6408432 |
527 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA383574902 rs1299989514 |
528 | S>G | No |
ClinGen gnomAD |
|
|
rs1391369688 CA383576502 |
530 | K>N | No |
ClinGen gnomAD |
|
|
CA383576537 rs1592174286 |
532 | A>P | No |
ClinGen Ensembl |
|
|
rs1294796514 CA383576571 |
533 | I>T | No |
ClinGen gnomAD |
|
|
CA232389238 rs368311206 |
533 | I>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA383576636 rs1592174293 |
536 | T>P | No |
ClinGen Ensembl |
|
|
CA6408450 rs770092608 |
537 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA383576655 rs770092608 |
537 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778277993 CA6408451 |
537 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs139063293 CA6408453 |
538 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs139063293 CA6408452 |
538 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs774933116 CA6408454 |
539 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383576760 rs1265298375 |
540 | T>R | No |
ClinGen gnomAD |
|
|
rs759567744 CA6408455 |
542 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA383576835 rs1243357527 |
543 | F>C | No |
ClinGen gnomAD |
|
|
rs146888515 CA232389253 |
543 | F>L | No |
ClinGen ESP TOPMed |
|
|
rs143983696 CA6408456 |
543 | F>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 544 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6408457 rs775626136 |
545 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA232389270 rs200077145 |
547 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD |
|
CA383576984 rs1421764525 |
549 | F>S | No |
ClinGen gnomAD |
|
|
CA383577005 rs1163848778 |
550 | S>G | No |
ClinGen gnomAD |
|
|
CA383577052 rs753621723 |
551 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA6408460 rs753621723 |
551 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA6408463 rs750308942 |
552 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs765186777 CA6408462 |
552 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs757893568 CA6408464 |
554 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs201687848 CA232389286 |
555 | E>K | No |
ClinGen 1000Genomes |
|
|
rs751235646 CA6408466 |
558 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1336071300 CA383578068 |
561 | R>K | No |
ClinGen gnomAD |
|
|
CA6408467 rs754644063 |
561 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1565544933 CA383578115 |
563 | L>S | No |
ClinGen Ensembl |
|
|
CA6408470 rs749675666 |
565 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs779587095 CA6408472 |
568 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1482413115 CA383578205 |
569 | I>V | No |
ClinGen gnomAD |
|
|
CA232389334 rs1002412613 |
571 | K>Q | No |
ClinGen gnomAD |
|
|
CA6408490 rs115935399 |
574 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs779392155 CA6408492 |
575 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs757747939 CA6408491 |
575 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA232389704 rs3180469 |
578 | Q>* | No |
ClinGen Ensembl |
|
|
rs758935015 CA6408494 |
579 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6408495 rs17725914 VAR_057511 RCV000965882 |
580 | K>R | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA6408496 rs747140063 |
581 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1275222453 CA383578466 |
582 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs768670597 CA6408497 |
582 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA383578476 rs776884151 |
583 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145828257 CA6408499 |
583 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6408498 COSM942596 rs776884151 |
583 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6408500 rs769642475 |
584 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1477372094 CA383578550 |
587 | G>E | No |
ClinGen gnomAD |
|
|
CA6408504 rs774116129 |
589 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383578584 rs151273606 |
589 | M>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6408503 rs151273606 |
589 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6408502 rs762596170 |
589 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs141590433 CA6408505 |
590 | V>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1287489579 CA383578624 |
591 | T>I | No |
ClinGen gnomAD |
|
|
rs1411003445 CA383578627 |
592 | G>R | No |
ClinGen gnomAD |
|
|
CA383578656 rs1348647337 |
594 | T>A | No |
ClinGen gnomAD |
|
|
rs752439922 CA6408507 |
594 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 595 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6408509 rs765758094 |
595 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383578672 rs765758094 |
595 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383578697 rs1347191882 |
596 | C>W | No |
ClinGen TOPMed |
|
|
rs750817353 CA6408510 |
597 | K>I | No |
ClinGen ExAC gnomAD |
|
|
CA383578725 rs1217973438 |
598 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
rs200329416 CA6408511 |
598 | N>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA383578733 rs200329416 |
598 | N>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs147032879 CA232389742 |
599 | K>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6408512 rs147032879 |
599 | K>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs574601341 CA6408515 |
600 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1450987147 CA383578765 |
600 | P>R | No |
ClinGen gnomAD |
|
|
CA6408514 rs574601341 |
600 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6408513 rs574601341 |
600 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1047913049 CA232389752 |
601 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1186905733 CA383578802 |
602 | M>I | No |
ClinGen TOPMed |
|
|
CA383578796 rs1187600833 |
602 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA383578793 rs1565545180 COSM1171933 |
602 | M>V | oesophagus [Cosmic] | No |
ClinGen cosmic curated Ensembl |
| TCGA novel | 603 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777791363 CA6408518 |
604 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA6408519 rs574753127 |
608 | S>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs148221378 CA6408520 |
609 | R>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1378598766 CA383578874 |
613 | E>* | No |
ClinGen gnomAD |
|
|
CA383578895 rs1192579986 |
616 | K>R | No |
ClinGen TOPMed |
|
|
CA383578913 rs1396860805 |
618 | E>D | No |
ClinGen gnomAD |
|
|
rs1433009894 CA383578921 |
619 | M>I | No |
ClinGen gnomAD |
|
|
rs1306273345 CA383578957 |
625 | Q>* | No |
ClinGen TOPMed |
|
|
CA383578963 rs1320066754 |
625 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1215543881 CA383578964 |
626 | D>N | No |
ClinGen TOPMed |
|
|
CA383578972 rs1327283750 |
627 | A>T | No |
ClinGen gnomAD |
|
|
CA6408522 rs759517573 |
627 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6408523 rs369699402 |
628 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383579004 rs935986083 |
631 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA232389764 rs935986083 |
631 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs745698478 CA6408526 |
632 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778450010 CA6408525 |
632 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA232389770 rs913508713 |
633 | K>N | No |
ClinGen TOPMed |
|
|
CA6408528 rs140245065 |
634 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753378700 CA6408527 |
634 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1448390571 CA383579024 |
635 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs61751201 CA6408529 |
635 | T>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1195747556 CA383579037 |
637 | A>D | No |
ClinGen gnomAD |
|
|
CA6408531 rs755462892 |
638 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs752173146 CA6408530 |
638 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1053376976 CA232389780 |
639 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 639 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781620429 CA6408532 |
640 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383579056 rs1455677887 |
641 | I>V | No |
ClinGen gnomAD |
|
|
CA6408535 rs778079253 |
642 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs369598953 CA232389789 |
642 | S>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA383579064 rs369598953 |
642 | S>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA383579089 rs1309692830 |
645 | M>T | No |
ClinGen TOPMed |
|
| TCGA novel | 645 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6408562 rs780185175 |
652 | V>A | No |
ClinGen ExAC |
|
|
CA6408537 rs770801928 |
652 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs768272935 CA6408564 |
657 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA383579199 COSM283131 rs1229509033 |
659 | F>L | large_intestine Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA383579254 rs1388159352 |
662 | M>I | No |
ClinGen gnomAD |
|
|
rs1175244374 CA383579245 |
662 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
CA383579246 rs1175244374 |
662 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs776002331 CA6408565 |
662 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1461406372 CA383579267 |
663 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1461406372 CA383579264 |
663 | V>D | No |
ClinGen TOPMed gnomAD |
|
|
CA383579370 rs769346336 |
669 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6408567 rs769346336 |
669 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6408566 rs577139305 |
669 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200624813 CA6408569 |
670 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767836400 CA6408570 |
672 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA6408571 rs376195353 |
674 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6408574 rs753865003 |
675 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA6408573 rs764299547 |
675 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA6408576 rs765575100 |
676 | R>C | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1329315235 CA383579471 |
676 | R>H | No |
ClinGen TOPMed |
|
|
CA6408578 rs750628585 |
677 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs148424921 CA6408579 |
677 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1258789 rs1172592484 CA383579506 |
678 | M>I | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA6408580 rs779986183 |
678 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA232390095 rs779986183 |
678 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142380498 CA383579519 |
680 | P>A | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 680 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383579531 rs1427663937 |
680 | P>L | No |
ClinGen gnomAD |
|
|
CA232390101 rs142380498 |
680 | P>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA6408583 rs781128388 |
684 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA383579656 rs1333124919 |
686 | E>K | No |
ClinGen gnomAD |
|
|
rs1442483081 CA383579705 |
687 | P>L | No |
ClinGen gnomAD |
|
|
rs769308867 CA6408585 |
687 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA6408587 rs553615528 |
690 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1040000684 CA232390118 |
690 | R>W | No |
ClinGen TOPMed |
|
|
CA232390122 rs893044825 |
691 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs978192011 CA232390125 |
692 | A>P | No |
ClinGen Ensembl |
|
|
CA232390131 rs1041531227 |
693 | V>G | No |
ClinGen TOPMed |
|
|
CA6408589 rs775825528 |
693 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1484223798 CA383579837 |
695 | N>D | No |
ClinGen TOPMed |
|
|
rs761032094 CA6408590 |
695 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1484223798 CA383579838 |
695 | N>Y | No |
ClinGen TOPMed |
|
|
rs1243333542 CA383579872 |
696 | A>V | No |
ClinGen gnomAD |
|
|
CA383579906 COSM26986 rs1335484116 |
698 | R>C | kidney large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs145931156 COSM1363694 CA6408591 |
698 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA6408593 rs777143284 |
699 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA6408594 rs765390473 |
701 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA6408595 rs765390473 |
701 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA383579994 rs1186861790 |
702 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA383580037 rs1303508754 |
704 | P>S | No |
ClinGen TOPMed |
|
|
rs1222092568 CA383580059 |
705 | K>* | No |
ClinGen TOPMed |
|
|
rs1054845746 CA232390141 |
705 | K>R | No |
ClinGen Ensembl |
|
|
CA232390143 rs1003337409 |
706 | G>R | No |
ClinGen TOPMed |
|
|
CA6408597 rs766643810 |
707 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs772522759 CA6408596 |
707 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1346018457 CA383581235 |
711 | A>T | No |
ClinGen gnomAD |
|
|
rs1209858141 CA383581245 |
712 | K>M | No |
ClinGen gnomAD |
|
|
rs1280827123 CA383581249 |
713 | A>T | No |
ClinGen gnomAD |
|
|
rs756041204 CA6408620 |
713 | A>V | No |
ClinGen ExAC |
|
|
rs777619239 CA6408621 |
714 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1480634348 CA383581329 |
719 | N>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6408623 rs560391483 |
721 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA383581371 rs560391483 |
721 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1321991801 CA383581363 |
721 | S>P | No |
ClinGen TOPMed |
|
|
CA383581420 rs1436989464 |
725 | V>A | No |
ClinGen gnomAD |
|
|
rs745498386 CA6408626 |
725 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA383581412 rs745498386 |
725 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1327364886 CA383581453 |
726 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs768963981 CA6408627 |
727 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA383581469 rs768963981 |
727 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs781618742 CA6408628 |
728 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1592175584 CA383581499 |
729 | V>G | No |
ClinGen Ensembl |
|
|
rs1369004404 CA383581511 |
730 | G>E | No |
ClinGen gnomAD |
|
|
rs773808799 CA6408631 |
732 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA383581566 rs1349711983 |
733 | Q>H | No |
ClinGen gnomAD |
|
|
CA383581635 rs1212591201 |
738 | I>T | No |
ClinGen gnomAD |
|
|
rs375366285 CA6408678 |
741 | E>D | No |
ClinGen ESP ExAC |
|
|
CA6408677 rs745868065 |
741 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1165777305 CA383583530 |
742 | F>C | No |
ClinGen gnomAD |
|
| TCGA novel | 745 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763842161 CA6408681 |
746 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6408682 rs761185581 |
747 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1432648448 CA383583741 |
751 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1220542658 CA383583770 |
753 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs761738965 CA6408684 |
754 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA6408685 rs765021824 |
757 | W>C | No |
ClinGen ExAC |
|
|
CA383583861 rs1195806624 |
757 | W>R | No |
ClinGen gnomAD |
|
|
CA383583913 rs1348091995 |
758 | E>D | No |
ClinGen gnomAD |
|
|
rs1565546352 CA383583891 |
758 | E>Q | No |
ClinGen Ensembl |
|
|
CA6408687 rs575891537 |
759 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs749966496 CA6408686 |
759 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 760 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1360469939 CA383584035 |
762 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
COSM162816 rs61763002 CA6408689 |
762 | E>K | oesophagus breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA232392402 rs61763002 |
762 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383584089 rs1592176748 |
764 | V>G | No |
ClinGen Ensembl |
|
|
rs778270049 CA6408691 |
765 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1188744102 CA383584134 |
766 | C>R | No |
ClinGen gnomAD |
|
|
CA383584176 rs749876235 |
767 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749876235 CA6408692 |
767 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA232392425 rs972819783 |
768 | P>A | No |
ClinGen gnomAD |
|
|
CA383584199 rs972819783 |
768 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA383584257 rs1402183922 |
771 | R>C | No |
ClinGen gnomAD |
|
|
CA383584262 rs1310900245 |
771 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1310900245 CA383584265 |
771 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA383584276 rs779228154 |
772 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA6408694 rs779228154 |
772 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA6408695 rs745980585 |
774 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA383584356 rs1164972734 |
776 | M>I | No |
ClinGen TOPMed |
|
|
rs1413443276 CA383584345 |
776 | M>K | No |
ClinGen gnomAD |
|
| TCGA novel | 776 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772001628 CA6408696 |
778 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA383584396 rs1427232816 |
779 | G>D | No |
ClinGen TOPMed |
|
|
rs1279729513 CA383584407 |
780 | M>L | No |
ClinGen gnomAD |
|
|
CA383584436 rs1341506892 |
781 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
CA383584432 rs1341506892 |
781 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1000859870 COSM1676664 CA232392456 |
783 | R>* | ovary [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1242738698 CA383584469 |
783 | R>Q | No |
ClinGen gnomAD |
|
|
CA6408721 rs773253189 |
787 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6408722 rs555328861 |
787 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1461455282 CA383584654 |
790 | G>R | No |
ClinGen gnomAD |
|
|
rs1167978105 CA383584693 |
792 | N>S | No |
ClinGen gnomAD |
|
|
rs1427039429 CA383584697 |
793 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6408723 rs539898238 |
795 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs774002338 CA6408724 |
796 | L>V | No |
ClinGen ExAC gnomAD |
|
|
VAR_024422 rs10849482 CA6408725 |
797 | V>M | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA6408726 rs767298691 |
798 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA6408727 rs752250325 |
799 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA383584739 rs1303919612 |
800 | G>R | No |
ClinGen gnomAD |
|
|
rs1300581509 CA383584748 |
801 | L>P | No |
ClinGen gnomAD |
|
|
rs1304996535 CA383584762 |
803 | E>G | No |
ClinGen TOPMed |
|
| TCGA novel | 803 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383584796 rs1320004931 |
808 | D>N | No |
ClinGen gnomAD |
|
|
CA6408731 CA6408732 rs560070593 |
810 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA383584815 rs1211933217 |
810 | R>T | No |
ClinGen gnomAD |
|
|
rs76687187 CA6408733 |
812 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs76687187 CA232392657 |
812 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1592176989 CA383584829 |
813 | Q>P | No |
ClinGen Ensembl |
|
|
CA383584869 rs1592176994 |
815 | V>G | No |
ClinGen Ensembl |
|
|
rs1399955129 CA383584901 |
817 | H>L | No |
ClinGen gnomAD |
|
|
CA6408734 rs572247056 |
819 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs781436926 CA6408735 |
820 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs748297703 CA6408736 |
821 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA6408737 rs755997061 |
821 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777426754 CA6408738 |
822 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs369160973 CA6408739 |
823 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369160973 CA383584997 |
823 | S>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774381395 CA6408741 |
826 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1044265729 CA232392666 |
827 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA383585115 rs1240568500 |
828 | P>L | No |
ClinGen gnomAD |
|
|
rs1316607660 CA383585108 |
828 | P>S | No |
ClinGen gnomAD |
|
|
rs771761429 CA6408761 |
829 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA6408762 rs562898088 |
830 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs746458872 CA6408763 |
832 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA383585162 rs1258140496 |
833 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs768218178 CA6408764 |
833 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1592177116 CA383585178 |
834 | H>P | No |
ClinGen Ensembl |
|
|
CA383585202 rs1290527575 |
835 | P>R | No |
ClinGen Ensembl |
|
|
CA232392781 rs1018414996 |
835 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6408768 rs201468201 |
836 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs73259178 CA6408773 |
836 | P>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs73259178 CA6408771 |
836 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs73259178 CA6408772 |
836 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201468201 CA6408770 |
836 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201468201 CA6408769 |
836 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs764251363 CA6408776 |
837 | F>C | No |
ClinGen ExAC gnomAD |
|
| rs772347389 | 837 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs772347389 | 837 | F>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383585232 rs527891354 |
838 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM141366 rs778834087 CA6408779 |
838 | R>Q | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs527891354 CA6408778 |
838 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA383585241 rs1592177143 |
839 | L>V | No |
ClinGen Ensembl |
|
|
rs769382114 CA6408780 |
840 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA232392819 rs957172228 |
840 | P>T | No |
ClinGen Ensembl |
|
|
CA6408782 rs375096381 |
842 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs562323013 CA6408781 |
842 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383585330 rs1311761425 |
844 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs746535565 CA6408783 |
845 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA383585377 rs1233326398 |
846 | F>S | No |
ClinGen gnomAD |
|
|
CA232392825 rs139932236 |
848 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed |
|
CA6408785 rs780760183 |
848 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs771352876 CA6408787 |
850 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200921592 CA6408786 |
850 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6408788 rs774704688 |
851 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1296467038 CA383585513 |
853 | V>I | No |
ClinGen TOPMed |
|
|
CA6408790 rs772478532 |
854 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA383585733 rs1480614824 |
858 | V>G | No |
ClinGen TOPMed |
|
|
rs113663520 CA232392928 |
859 | H>R | No |
ClinGen Ensembl |
|
|
CA383585737 rs1565546701 |
859 | H>Y | No |
ClinGen Ensembl |
|
|
CA383585772 rs1270862633 |
860 | P>A | No |
ClinGen gnomAD |
|
|
rs1252381422 CA383585806 |
861 | D>E | No |
ClinGen TOPMed |
|
|
CA383585897 rs753674713 |
864 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA383585900 CA232392943 rs753674713 |
864 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
CA383585925 rs1282967115 |
865 | I>M | No |
ClinGen TOPMed |
|
|
rs1321850665 CA383585916 |
865 | I>N | No |
ClinGen TOPMed |
|
|
rs746261413 CA6408807 |
866 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA6408808 rs772449545 |
868 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs927128257 CA232392964 |
870 | V>M | No |
ClinGen Ensembl |
|
|
rs1419459612 CA383586070 |
872 | V>G | No |
ClinGen gnomAD |
|
|
CA6408809 rs775910125 |
872 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 873 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs941238695 CA232392971 |
874 | L>F | No |
ClinGen Ensembl |
|
|
CA383586167 rs1333002063 |
877 | Q>* | No |
ClinGen TOPMed |
|
|
CA232392982 rs918535347 |
881 | G>S | No |
ClinGen TOPMed |
|
|
CA6408814 rs373969636 |
882 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs761924426 CA6408813 |
882 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1405098549 CA383586360 |
885 | I>M | No |
ClinGen TOPMed |
|
|
rs1468103619 CA383586355 |
885 | I>T | No |
ClinGen TOPMed |
|
|
CA6408817 rs376684532 |
886 | C>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs754947508 CA6408819 |
891 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1492987 rs149823221 CA6408821 |
893 | C>S | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs149823221 CA383586544 |
893 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6408823 rs529714238 |
895 | K>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs760940470 CA6408825 |
897 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs760940470 CA232393023 |
897 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs780458107 CA6408826 |
898 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA232393040 rs891101793 |
899 | E>G | No |
ClinGen Ensembl |
|
|
rs567934148 CA232393064 |
900 | K>N | No |
ClinGen Ensembl |
|
|
rs549446525 CA6408829 |
900 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs549446525 CA6408828 |
900 | K>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA232393065 rs942789281 |
902 | E>G | No |
ClinGen TOPMed |
|
|
rs1460329218 CA383586772 |
904 | K>E | No |
ClinGen TOPMed |
|
|
CA6408831 rs769975634 |
905 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA232393068 rs773631088 |
906 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773631088 CA6408832 |
906 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383586823 rs1259167593 |
907 | S>R | No |
ClinGen TOPMed |
|
|
rs145781104 CA6408833 |
911 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145781104 CA232393070 |
911 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6408852 rs141629311 |
914 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383587064 rs1565546880 |
915 | P>L | No |
ClinGen Ensembl |
|
|
rs1344973671 CA383587082 |
916 | A>G | No |
ClinGen gnomAD |
|
|
rs759414047 CA6408854 |
916 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 917 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1324892313 CA383587094 |
917 | M>V | No |
ClinGen TOPMed |
|
|
CA383587138 rs1164604207 |
919 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA232393174 rs1029968725 |
919 | P>T | No |
ClinGen TOPMed |
|
|
rs752579769 CA232393178 |
920 | T>N | No |
ClinGen Ensembl |
|
|
rs1280900191 CA383587145 |
920 | T>P | No |
ClinGen gnomAD |
|
|
rs771829488 CA6408855 |
921 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA383587173 rs1392784516 |
921 | F>S | No |
ClinGen gnomAD |
|
|
CA6408856 rs375952478 |
922 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1478344737 CA383587187 |
922 | L>P | No |
ClinGen TOPMed |
|
|
rs953080684 CA232393192 |
924 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1191562471 CA383587248 |
925 | N>S | No |
ClinGen gnomAD |
|
|
rs1191562471 CA383587246 |
925 | N>T | No |
ClinGen gnomAD |
|
|
CA383587304 rs1247389265 |
928 | S>F | No |
ClinGen TOPMed |
|
|
CA6408859 rs753399311 |
930 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs761176052 CA6408860 |
930 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs764970826 CA6408861 |
934 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA383587461 rs1592177514 |
939 | V>G | No |
ClinGen Ensembl |
|
|
rs781689943 CA6408864 |
943 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs753048861 CA6408865 |
944 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1337489294 CA383587567 |
945 | V>A | No |
ClinGen gnomAD |
|
|
rs1198119934 CA383587594 |
946 | S>R | No |
ClinGen gnomAD |
|
|
rs1260954230 CA383587598 |
947 | G>R | No |
ClinGen TOPMed |
|
|
CA6408867 rs778093338 |
948 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383587701 rs1440200876 |
950 | C>W | No |
ClinGen TOPMed gnomAD |
|
|
rs759714048 CA6408870 |
951 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145370494 CA6408869 |
951 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746074962 CA6408872 RCV000994830 COSM4147397 |
952 | R>C | thyroid [Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA6408873 rs373602126 |
952 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775267429 CA6408874 |
953 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs949516994 CA232393273 |
953 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA6408876 rs768599305 |
954 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA6408875 rs753785916 |
954 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs764641749 CA6408879 |
956 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM333235 rs147656435 CA6408878 |
956 | R>W | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA6408880 rs750160826 |
961 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA232393292 rs942600606 |
962 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs527945485 CA6408882 |
963 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA383588062 rs1458993556 |
964 | K>E | No |
ClinGen TOPMed |
|
|
CA383588073 rs1320252246 |
964 | K>R | No |
ClinGen gnomAD |
|
|
CA383588111 rs1231619080 |
965 | D>G | No |
ClinGen gnomAD |
|
|
rs1265087537 CA383588126 |
966 | P>A | No |
ClinGen gnomAD |
|
|
rs368743000 CA6408883 |
967 | K>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs750520878 CA6408907 |
971 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750520878 CA383589682 |
971 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141891272 CA6408910 |
973 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs754870926 CA6408911 |
974 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA232393655 rs867015735 |
974 | E>K | No |
ClinGen Ensembl |
|
|
rs552225344 CA6408912 |
975 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs747923932 CA6408913 |
976 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs970819686 CA232393664 |
976 | T>I | No |
ClinGen gnomAD |
|
|
rs1396627617 CA603484172 |
977 | M>* | No |
ClinGen TOPMed |
|
|
CA6408915 rs559117736 |
977 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA383589791 rs1565547198 |
977 | M>T | No |
ClinGen Ensembl |
|
|
CA383589781 rs1359858675 |
977 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs774202915 CA6408919 |
984 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA6408918 rs770545116 |
984 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1166904134 CA383589997 |
986 | A>T | No |
ClinGen TOPMed |
|
|
rs1419668971 CA383590071 |
989 | D>E | No |
ClinGen TOPMed |
|
|
rs767129732 CA6408921 |
990 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA383590104 rs1188379934 |
991 | T>S | No |
ClinGen TOPMed |
|
|
CA6408922 rs776872395 |
992 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1413324059 CA383590118 |
992 | E>Q | No |
ClinGen gnomAD |
|
|
CA232393704 rs926784989 |
994 | E>K | No |
ClinGen Ensembl |
|
|
rs765761412 CA6408924 |
996 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750894814 CA6408925 COSM942599 |
997 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA6408926 rs758518981 |
997 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6408927 rs766445226 |
998 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA6408928 rs751574432 |
999 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA383590289 rs1365394456 |
1000 | C>F | No |
ClinGen gnomAD |
|
|
rs781430629 CA6408930 |
1001 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1196234958 CA383590376 |
1003 | E>Q | No |
ClinGen gnomAD |
|
|
CA6408931 rs747927145 |
1004 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs747927145 CA6408932 |
1004 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA6408935 rs770630836 |
1005 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA232393727 rs973592259 |
1006 | D>N | No |
ClinGen Ensembl |
|
|
rs867422941 CA232393772 |
1007 | G>D | No |
ClinGen Ensembl |
|
|
rs1477246743 CA383590461 |
1007 | G>R | No |
ClinGen gnomAD |
|
|
rs1477246743 CA383590458 |
1007 | G>S | No |
ClinGen gnomAD |
|
|
CA383590551 rs1441390548 |
1008 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA383590548 rs1441390548 |
1008 | K>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1277094533 CA383590558 |
1008 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs770118614 CA6408944 |
1010 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6408945 rs773763595 |
1014 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs763458491 CA6408946 |
1014 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA383590722 rs1592178028 |
1016 | P>L | No |
ClinGen Ensembl |
|
|
rs1592178025 CA383590716 |
1016 | P>S | No |
ClinGen Ensembl |
|
|
rs766817718 CA6408947 |
1017 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA6408948 rs751617976 |
1018 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA383590757 rs1210785759 |
1018 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1040808363 CA232393808 |
1023 | N>D | No |
ClinGen Ensembl |
|
|
CA383590906 rs1491001809 |
1023 | N>I | No |
ClinGen gnomAD |
|
|
CA232393815 rs899580035 |
1027 | L>F | No |
ClinGen gnomAD |
|
|
rs1478194264 CA383591001 |
1027 | L>R | No |
ClinGen gnomAD |
|
|
CA690985766 rs1232298598 |
1028 | Y>* | No |
ClinGen TOPMed |
|
|
CA383591006 rs1592178046 |
1028 | Y>C | No |
ClinGen Ensembl |
|
|
rs936195223 CA232393819 |
1029 | S>R | No |
ClinGen TOPMed |
|
|
rs148269816 CA6408951 |
1031 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1253830994 CA383591087 |
1032 | D>G | No |
ClinGen TOPMed |
|
|
CA6408952 rs755921917 |
1032 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1351543825 CA383591229 |
1037 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA6408954 rs753618516 |
1039 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA6408955 rs757270086 |
1040 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA232393844 rs112784312 |
1042 | G>S | No |
ClinGen Ensembl |
|
| TCGA novel | 1043 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771579024 CA6408958 |
1045 | C>* | No |
ClinGen ExAC gnomAD |
|
|
CA6408957 rs745400484 |
1045 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1355253961 CA383591446 |
1045 | C>Y | No |
ClinGen gnomAD |
|
|
rs1291107687 CA383591562 |
1048 | S>R | No |
ClinGen gnomAD |
|
|
rs529956181 CA232393895 |
1049 | A>V | No |
ClinGen Ensembl |
|
|
CA232393900 rs1020969156 |
1050 | T>I | No |
ClinGen Ensembl |
|
|
rs1565547372 CA383591741 |
1051 | F>Y | No |
ClinGen Ensembl |
|
|
rs1385392397 CA383591812 |
1053 | D>G | No |
ClinGen gnomAD |
|
|
rs779610078 CA6408976 |
1053 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1042057335 CA383591864 |
1054 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1042057335 CA232393920 |
1054 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA6408978 rs754648578 |
1057 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs780783630 CA6408979 |
1057 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6408980 rs749693715 |
1060 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1395790061 CA383592007 |
1060 | F>S | No |
ClinGen TOPMed |
|
|
CA383592044 rs1441931164 |
1062 | M>V | No |
ClinGen gnomAD |
|
|
rs140333484 CA232393969 |
1063 | L>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA6408981 rs771267179 |
1064 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1244117357 CA383592090 |
1064 | E>K | No |
ClinGen TOPMed |
|
|
CA232393976 rs376901782 |
1065 | K>E | No |
ClinGen Ensembl |
|
|
rs150344215 CA383592147 |
1065 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA383592132 rs1437564196 |
1065 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA383592182 rs1380833439 |
1067 | P>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1067 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746385360 CA6408983 |
1068 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746385360 CA232393980 |
1068 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772391132 CA232393986 |
1069 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA6408984 rs772391132 |
1069 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA383592194 rs1303510000 |
1069 | P>T | No |
ClinGen TOPMed |
|
|
CA6408985 rs566534807 |
1070 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1414578905 CA383592225 |
1071 | V>I | No |
ClinGen gnomAD |
|
|
rs760783711 CA6408986 |
1072 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA6408987 rs764438216 |
1072 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760783711 CA383592251 |
1072 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1365034772 CA383592275 |
1073 | S>A | No |
ClinGen TOPMed |
|
|
CA6408989 rs776962591 |
1074 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs1378279199 CA383592329 |
1075 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA232394009 rs974005511 |
1075 | L>H | No |
ClinGen Ensembl |
|
|
rs920743401 CA232394010 |
1076 | M>I | No |
ClinGen gnomAD |
|
|
rs761748740 CA6408990 |
1076 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs929564192 CA232394011 |
1077 | V>A | No |
ClinGen TOPMed |
|
|
CA6408991 rs765067047 |
1078 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1201155682 CA383592398 |
1080 | G>R | No |
ClinGen gnomAD |
|
|
rs763728649 CA6408992 |
1081 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs137946874 CA6408993 |
1081 | D>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs766180121 CA6408994 |
1083 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs751101647 CA6408995 |
1083 | A>V | No |
ClinGen ExAC |
|
|
CA383592461 rs1420655691 |
1084 | I>V | No |
ClinGen gnomAD |
|
|
rs199911941 CA6408996 |
1085 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs780875665 CA6408997 |
1085 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747789607 CA6408998 |
1087 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs757688351 CA6408999 |
1088 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA383592550 rs1421019529 |
1089 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA232394029 rs955405147 |
1092 | P>H | No |
ClinGen TOPMed |
|
|
rs1040672241 CA232394025 |
1092 | P>T | No |
ClinGen Ensembl |
|
|
rs1187363713 CA383592682 |
1094 | T>A | No |
ClinGen TOPMed |
|
| TCGA novel | 1095 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768833927 CA6409006 |
1100 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6409007 rs145942484 |
1100 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383592902 rs145942484 |
1100 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6409036 rs201735986 |
1102 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760060496 CA6409035 |
1102 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs927733594 CA232394214 |
1104 | P>S | No |
ClinGen TOPMed |
|
|
CA232394215 rs1003430222 |
1108 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs758855845 CA383593248 |
1109 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6409039 rs377720436 |
1109 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6409038 rs758855845 |
1109 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383593279 rs1364339867 |
1111 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA383593276 rs1364339867 |
1111 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA6409041 rs751904500 |
1112 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6409040 rs751904500 |
1112 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA232394264 rs995240821 |
1113 | G>E | No |
ClinGen Ensembl |
|
|
CA6409045 rs778115986 |
1114 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs144412706 CA6409046 |
1116 | M>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6409047 rs771079029 |
1118 | H>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1120 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6409049 rs759275805 |
1122 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1592178411 CA383593516 |
1124 | M>T | No |
ClinGen Ensembl |
|
|
rs1256445771 CA383593591 |
1128 | K>T | No |
ClinGen gnomAD |
|
|
CA6409051 rs775371502 |
1130 | Q>* | No |
ClinGen ExAC |
|
|
rs760278075 CA6409052 |
1131 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs1592178427 CA383593669 |
1131 | V>G | No |
ClinGen Ensembl |
|
|
CA6409054 rs753592881 |
1133 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761374345 CA6409055 |
1134 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6409056 rs764924444 |
1135 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1592178439 CA383593790 |
1136 | V>G | No |
ClinGen Ensembl |
|
|
CA6409058 rs755365795 |
1136 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA383593805 rs1407161636 |
1137 | L>Q | No |
ClinGen gnomAD |
|
|
CA383593863 rs1262181768 |
1140 | D>A | No |
ClinGen TOPMed |
|
|
CA383593866 rs1262181768 |
1140 | D>G | No |
ClinGen TOPMed |
|
|
rs756287772 CA6409061 |
1140 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6409062 rs777724116 |
1142 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1309094201 CA383593944 |
1143 | P>L | No |
ClinGen gnomAD |
|
|
CA232394413 rs966285425 |
1147 | A>P | No |
ClinGen TOPMed |
|
|
rs966285425 CA383594001 |
1147 | A>S | No |
ClinGen TOPMed |
|
|
CA6409065 rs779063654 |
1150 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383594046 rs1236673034 |
1151 | N>S | No |
ClinGen gnomAD |
|
|
RCV000761816 rs1592178488 |
1153 | F>missing | No |
ClinVar dbSNP |
|
|
CA6409067 rs199672478 |
1154 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs775551952 CA6409068 |
1156 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA383594094 rs1431479013 |
1158 | H>Y | No |
ClinGen gnomAD |
|
|
CA6409083 rs757293887 |
1160 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs740850 CA383594133 |
1161 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs746072942 CA6409085 |
1162 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA232394615 rs376852566 |
1163 | I>T | No |
ClinGen Ensembl |
|
|
rs1042256199 CA232394608 |
1163 | I>V | No |
ClinGen TOPMed |
|
|
rs35819349 CA6409087 |
1165 | N>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1020979197 CA383594189 |
1166 | L>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1166 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768498216 CA6409089 |
1166 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA232394659 rs1020979197 |
1166 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs139998720 CA6409090 |
1167 | L>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145398040 CA6409092 |
1170 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV000952977 CA6409093 rs71579325 |
1170 | I>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA383594236 rs145398040 |
1170 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766002564 CA6409095 COSM942600 |
1173 | R>C | Variant assessed as Somatic; 0.0 impact. urinary_tract endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs183788505 CA6409097 |
1173 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs183788505 CA6409096 |
1173 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs754345866 CA6409099 |
1178 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6409100 rs761935164 |
1179 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1472426192 CA383594354 CA383594356 |
1180 | G>R | No |
ClinGen TOPMed |
|
|
CA6409101 rs765293144 |
1181 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1438505109 CA383594457 |
1186 | F>L | No |
ClinGen TOPMed |
|
|
CA6409102 rs149767105 |
1187 | H>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758632306 CA6409103 |
1187 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383594503 rs1565547811 |
1188 | T>I | No |
ClinGen Ensembl |
|
|
CA383594510 rs751341613 |
1189 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6409105 rs751341613 |
1189 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1228177349 CA383594526 |
1190 | M>V | No |
ClinGen TOPMed |
|
| TCGA novel | 1192 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383596264 rs1351431978 |
1197 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1163329000 CA383596258 |
1197 | I>V | No |
ClinGen TOPMed |
|
|
CA6409129 rs200410385 |
1200 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs367671840 CA232395141 |
1200 | D>N | No |
ClinGen Ensembl |
|
|
CA383596320 rs1461093595 |
1201 | K>E | No |
ClinGen gnomAD |
|
|
CA6409131 rs777815289 |
1203 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1244672459 CA383596380 |
1204 | E>D | No |
ClinGen gnomAD |
|
|
CA6409132 rs748850248 |
1205 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs940733540 CA232395162 |
1205 | S>R | No |
ClinGen Ensembl |
|
|
CA383596404 rs748850248 |
1205 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs963896703 CA232395177 |
1210 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1040333456 CA232395184 |
1212 | Q>* | No |
ClinGen gnomAD |
|
|
rs373223388 CA6409134 |
1212 | Q>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6409133 rs373223388 |
1212 | Q>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA232395202 rs932030786 |
1213 | R>Q | No |
ClinGen gnomAD |
|
|
CA383596592 rs1469946630 |
1213 | R>W | No |
ClinGen gnomAD |
|
|
rs555494125 CA6409135 |
1215 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA383596623 rs555494125 |
1215 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs771553945 CA6409136 |
1215 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6409137 rs575359551 |
1216 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1231776815 CA383596664 |
1218 | R>* | No |
ClinGen gnomAD |
|
|
CA6409138 RCV000965883 rs61731148 |
1218 | R>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA383596668 rs61731148 |
1218 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6409139 rs61731148 |
1218 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA232395418 rs370458466 |
1221 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6409161 rs199575493 |
1221 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6409160 rs370458466 |
1221 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA232395441 rs1019200749 |
1222 | Q>R | No |
ClinGen TOPMed |
|
|
rs749807940 CA6409162 |
1223 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1193474325 CA383596809 |
1224 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA383596807 rs1193474325 |
1224 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1373953332 CA383596812 |
1224 | R>Q | No |
ClinGen gnomAD |
|
|
rs1463871817 CA383596819 |
1225 | D>N | No |
ClinGen gnomAD |
|
|
rs1162197971 CA383596830 |
1225 | D>V | No |
ClinGen gnomAD |
|
|
rs774515068 CA6409164 |
1228 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs759496497 CA6409165 |
1229 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1382896370 CA383596883 |
1229 | C>Y | No |
ClinGen gnomAD |
|
|
CA6409166 rs767896125 |
1232 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1201170710 CA383596933 |
1235 | L>F | No |
ClinGen TOPMed |
|
|
rs950114293 CA232395486 |
1235 | L>R | No |
ClinGen gnomAD |
|
|
CA383596951 rs1242408234 |
1238 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs760601566 CA6409168 |
1238 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753507430 CA383596960 |
1240 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs568168937 CA6409171 |
1240 | L>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs753507430 CA6409170 |
1240 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383596975 rs1485276238 |
1241 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs145700246 CA6409172 |
1241 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs145700246 CA383596978 |
1241 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA383596995 rs1396158551 |
1243 | M>T | No |
ClinGen TOPMed |
|
|
CA232395495 rs963949265 |
1244 | L>F | No |
ClinGen TOPMed |
|
|
rs1300746470 CA383597002 |
1244 | L>P | No |
ClinGen TOPMed |
|
|
rs757872384 CA6409174 |
1248 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA383597051 rs1424083804 |
1251 | G>R | No |
ClinGen TOPMed |
|
|
CA6409176 rs746660180 |
1253 | K>I | No |
ClinGen ExAC gnomAD |
|
|
CA383597069 rs746660180 |
1253 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs896106461 CA232395520 |
1257 | E>V | No |
ClinGen Ensembl |
|
|
rs143558583 CA232395532 |
1258 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143558583 CA6409177 COSM124685 |
1258 | S>Y | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA6409179 rs749568050 |
1259 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs367748817 CA6409178 |
1259 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383597113 rs1453177336 |
1260 | F>S | No |
ClinGen gnomAD |
|
|
rs550917748 CA6409181 |
1261 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 1261 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs571079372 CA6409182 |
1262 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6409183 rs540155011 |
1264 | L>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs540155011 CA6409184 |
1264 | L>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs760978668 CA6409185 |
1265 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs768938249 CA6409186 |
1266 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs137981914 CA6409188 |
1267 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA6409187 rs117693002 |
1267 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1262119428 CA383597161 |
1268 | G>D | No |
ClinGen gnomAD |
|
|
CA6409191 rs762518201 |
1271 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765878757 CA6409192 |
1272 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA232395645 rs778637362 |
1272 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs751014766 CA6409193 |
1273 | G>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1274 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383597195 rs1310060656 |
1274 | A>V | No |
ClinGen TOPMed |
|
|
CA6409194 rs754648653 |
1275 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA6409195 rs780672076 |
1275 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA383597206 rs1468379650 |
1276 | P>R | No |
ClinGen gnomAD |
|
|
rs1403853695 CA383597317 |
1281 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1283492437 CA383597330 |
1281 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1403853695 CA383597320 |
1281 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA383597349 rs779146378 |
1282 | I>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6409215 rs779146378 |
1282 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383597335 rs1347078774 |
1282 | I>V | No |
ClinGen gnomAD |
|
|
CA383597407 rs1565548507 |
1286 | E>K | No |
ClinGen Ensembl |
|
|
rs1268944323 CA383597540 |
1289 | L>F | No |
ClinGen gnomAD |
|
|
CA232396054 rs368324917 |
1290 | R>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA383597557 rs1307291517 COSM1363702 |
1290 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
| TCGA novel | 1291 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383597597 rs1489870291 |
1292 | C>R | No |
ClinGen gnomAD |
|
|
rs201167890 CA6409217 |
1293 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA383597707 rs780665574 |
1296 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs780665574 CA6409218 |
1296 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs920568435 CA232396058 |
1299 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs887404872 CA232396063 |
1301 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA383597831 rs1428920182 |
1303 | L>V | No |
ClinGen gnomAD |
|
|
rs1268504593 CA383597855 |
1304 | E>G | No |
ClinGen Ensembl |
|
|
CA6409219 rs185696673 |
1306 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6409220 rs768596090 |
1308 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383597942 rs1423450108 |
1309 | G>V | No |
ClinGen gnomAD |
|
|
rs983699259 CA232396078 |
1311 | Q>* | No |
ClinGen TOPMed |
|
|
CA383597980 rs1565548532 |
1311 | Q>L | No |
ClinGen Ensembl |
|
|
CA383598001 rs1303293740 |
1312 | R>K | No |
ClinGen gnomAD |
|
|
CA6409221 rs563085688 |
1312 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1387754035 CA383598010 |
1313 | A>T | No |
ClinGen TOPMed |
|
|
CA383598046 rs1592179708 |
1315 | S>P | No |
ClinGen Ensembl |
|
|
CA6409224 rs772906249 |
1316 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6409225 rs749043373 |
1318 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA383598120 rs1298349531 |
1319 | P>A | No |
ClinGen TOPMed |
|
|
CA383598135 rs1357995135 |
1320 | S>A | No |
ClinGen gnomAD |
|
|
rs770899017 CA6409227 |
1321 | T>A | No |
ClinGen ExAC gnomAD |
|
|
VAR_058713 rs2240871 CA6409228 |
1321 | T>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA6409230 rs200487459 |
1322 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs867468677 CA232396212 |
1322 | G>V | No |
ClinGen Ensembl |
|
|
CA232396213 rs375102795 |
1325 | Y>* | No |
ClinGen ESP TOPMed |
|
|
CA383598286 rs757407957 |
1325 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6409262 rs757407957 |
1325 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6409264 rs745623301 |
1327 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs771931892 CA6409265 |
1329 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1196806613 CA383598466 |
1335 | N>K | No |
ClinGen gnomAD |
|
|
rs150713925 CA6409267 |
1335 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA383598478 rs1400660777 |
1336 | D>H | No |
ClinGen gnomAD |
|
|
CA383598532 rs768266220 |
1337 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA383598538 rs1200971862 |
1338 | V>L | No |
ClinGen TOPMed |
|
|
CA6409271 rs369464603 |
1340 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383598593 rs1278156529 |
1340 | P>L | No |
ClinGen TOPMed |
|
|
CA6409270 COSM942602 rs369464603 |
1340 | P>S | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs202123025 CA6409272 |
1341 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs759914474 CA6409273 COSM162817 |
1343 | R>C | NS [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs759914474 CA383598659 |
1343 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6409274 rs767960393 |
1343 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767960393 CA383598664 |
1343 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759914474 CA383598661 |
1343 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768229078 CA6409275 |
1344 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6409276 rs760736035 |
1344 | R>H | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA383598669 rs768229078 |
1344 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1281582496 CA383598693 |
1345 | T>A | No |
ClinGen gnomAD |
|
|
CA6409277 rs764167695 |
1346 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs373233854 CA6409279 |
1347 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6409280 rs373233854 |
1347 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6409281 rs140382418 |
1347 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6409283 rs779911821 |
1348 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758188413 CA6409282 |
1348 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA232396246 rs200908224 |
1349 | H>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA232396259 rs998886798 |
1350 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA383598836 rs1200554459 |
1352 | T>S | No |
ClinGen gnomAD |
|
| TCGA novel | 1353 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1031646703 CA232396262 |
1353 | Q>R | No |
ClinGen Ensembl |
|
|
rs1379696785 CA383598873 |
1354 | Q>E | No |
ClinGen gnomAD |
|
|
CA232396271 rs960416335 |
1355 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs370927177 CA6409286 |
1355 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383598984 rs1167823875 |
1359 | K>T | No |
ClinGen gnomAD |
|
|
CA383599025 rs1431688133 |
1361 | P>R | No |
ClinGen gnomAD |
|
|
rs1371760448 CA383599016 |
1361 | P>S | No |
ClinGen gnomAD |
|
|
CA383599068 rs1444213061 |
1363 | V>F | No |
ClinGen TOPMed |
|
|
CA383599102 rs1241576207 |
1365 | F>L | No |
ClinGen TOPMed |
|
|
CA6409287 rs747621834 |
1365 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1368 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6409288 rs769611228 |
1369 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA232396297 rs1014299559 |
1372 | E>K | No |
ClinGen TOPMed |
|
|
CA383599937 rs1424467625 |
1374 | D>E | No |
ClinGen gnomAD |
|
|
CA6409309 rs770435927 |
1374 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA232396537 rs548656569 |
1375 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA383600024 rs1362150753 |
1378 | E>D | No |
ClinGen gnomAD |
|
|
rs1160225683 CA383600074 |
1379 | M>I | No |
ClinGen gnomAD |
|
|
CA383600033 rs1470042306 |
1379 | M>L | No |
ClinGen gnomAD |
|
|
RCV000950774 rs61752289 CA6409311 |
1383 | E>K | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
COSM549632 rs747329947 CA6409312 |
1384 | T>I | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6409314 rs769187957 |
1386 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769187957 CA6409313 |
1386 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3704360 rs1176240536 CA383600285 |
1386 | K>R | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1479735181 CA383600305 |
1387 | K>E | No |
ClinGen TOPMed |
|
|
CA383600340 rs1592180197 |
1389 | T>P | No |
ClinGen Ensembl |
|
|
CA6409315 rs140130874 |
1390 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6409316 rs140130874 |
1390 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1334688291 CA383600418 |
1392 | L>P | No |
ClinGen gnomAD |
|
|
CA6409317 rs773097640 |
1394 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA6409318 rs763249981 |
1395 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6409320 rs751412550 |
1396 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1202243479 CA383600514 |
1397 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs545349359 CA6409322 |
1397 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6409321 rs545349359 |
1397 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA232396616 rs202191153 |
1398 | R>M | No |
ClinGen 1000Genomes |
|
|
CA383600624 rs1354052146 |
1402 | S>W | No |
ClinGen TOPMed gnomAD |
|
|
CA383600633 rs1184117022 |
1402 | S>Y | No |
ClinGen gnomAD |
1 associated diseases with Q15021
[MIM: 617983]: Microcephaly 21, primary, autosomal recessive (MCPH21)
A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH21 features include mild intellectual disability, intrauterine growth retardation, short stature, and microcephaly. {ECO:0000269|PubMed:27737959, ECO:0000269|PubMed:28097321}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH21 features include mild intellectual disability, intrauterine growth retardation, short stature, and microcephaly. {ECO:0000269|PubMed:27737959, ECO:0000269|PubMed:28097321}. Note=The disease is caused by variants affecting the gene represented in this entry.
Functions
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| condensed chromosome | A highly compacted molecule of DNA and associated proteins resulting in a cytologically distinct structure. |
| condensed chromosome, centromeric region | The region of a condensed chromosome that includes the centromere and associated proteins, including the kinetochore. In monocentric chromosomes, this region corresponds to a single area of the chromosome, whereas in holocentric chromosomes, it is evenly distributed along the chromosome. |
| condensin complex | A multisubunit protein complex that plays a central role in chromosome condensation in meiosis and mitosis. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| histone binding | Binding to a histone, any of a group of water-soluble proteins found in association with the DNA of eukaryotic or archaeal chromosomes. They are involved in the condensation and coiling of chromosomes during cell division and have also been implicated in gene regulation and DNA replication. They may be chemically modified (methylated, acetlyated and others) to regulate gene transcription. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| cell division | The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells. |
| meiotic chromosome condensation | Compaction of chromatin structure prior to meiosis in eukaryotic cells. |
| mitotic chromosome condensation | The cell cycle process in which chromatin structure is compacted prior to and during mitosis in eukaryotic cells. |
| positive regulation of chromosome condensation | Any process that activates or increases the frequency, rate or extent of chromosome condensation. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAPQMYEFHL | PLSPEELLKS | GGVNQYVVQE | VLSIKHLPPQ | LRAFQAAFRA | QGPLAMLQHF |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DTIYSILHHF | RSIDPGLKED | TLQFLIKVVS | RHSQELPAIL | DDTTLSGSDR | NAHLNALKMN |
| 130 | 140 | 150 | 160 | 170 | 180 |
| CYALIRLLES | FETMASQTNL | VDLDLGGKGK | KARTKAAHGF | DWEEERQPIL | QLLTQLLQLD |
| 190 | 200 | 210 | 220 | 230 | 240 |
| IRHLWNHSII | EEEFVSLVTG | CCYRLLENPT | INHQKNRPTR | EAITHLLGVA | LTRYNHMLSA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TVKIIQMLQH | FEHLAPVLVA | AVSLWATDYG | MKSIVGEIVR | EIGQKCPQEL | SRDPSGTKGF |
| 310 | 320 | 330 | 340 | 350 | 360 |
| AAFLTELAER | VPAILMSSMC | ILLDHLDGEN | YMMRNAVLAA | MAEMVLQVLS | GDQLEAAARD |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TRDQFLDTLQ | AHGHDVNSFV | RSRVLQLFTR | IVQQKALPLT | RFQAVVALAV | GRLADKSVLV |
| 430 | 440 | 450 | 460 | 470 | 480 |
| CKNAIQLLAS | FLANNPFSCK | LSDADLAGPL | QKETQKLQEM | RAQRRTAAAS | AVLDPEEEWE |
| 490 | 500 | 510 | 520 | 530 | 540 |
| AMLPELKSTL | QQLLQLPQGE | EEIPEQIANT | ETTEDVKGRI | YQLLAKASYK | KAIILTREAT |
| 550 | 560 | 570 | 580 | 590 | 600 |
| GHFQESEPFS | HIDPEESEET | RLLNILGLIF | KGPAASTQEK | NPRESTGNMV | TGQTVCKNKP |
| 610 | 620 | 630 | 640 | 650 | 660 |
| NMSDPEESRG | NDELVKQEML | VQYLQDAYSF | SRKITEAIGI | ISKMMYENTT | TVVQEVIEFF |
| 670 | 680 | 690 | 700 | 710 | 720 |
| VMVFQFGVPQ | ALFGVRRMLP | LIWSKEPGVR | EAVLNAYRQL | YLNPKGDSAR | AKAQALIQNL |
| 730 | 740 | 750 | 760 | 770 | 780 |
| SLLLVDASVG | TIQCLEEILC | EFVQKDELKP | AVTQLLWERA | TEKVACCPLE | RCSSVMLLGM |
| 790 | 800 | 810 | 820 | 830 | 840 |
| MARGKPEIVG | SNLDTLVSIG | LDEKFPQDYR | LAQQVCHAIA | NISDRRKPSL | GKRHPPFRLP |
| 850 | 860 | 870 | 880 | 890 | 900 |
| QEHRLFERLR | ETVTKGFVHP | DPLWIPFKEV | AVTLIYQLAE | GPEVICAQIL | QGCAKQALEK |
| 910 | 920 | 930 | 940 | 950 | 960 |
| LEEKRTSQED | PKESPAMLPT | FLLMNLLSLA | GDVALQQLVH | LEQAVSGELC | RRRVLREEQE |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| HKTKDPKEKN | TSSETTMEEE | LGLVGATADD | TEAELIRGIC | EMELLDGKQT | LAAFVPLLLK |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| VCNNPGLYSN | PDLSAAASLA | LGKFCMISAT | FCDSQLRLLF | TMLEKSPLPI | VRSNLMVATG |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| DLAIRFPNLV | DPWTPHLYAR | LRDPAQQVRK | TAGLVMTHLI | LKDMVKVKGQ | VSEMAVLLID |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| PEPQIAALAK | NFFNELSHKG | NAIYNLLPDI | ISRLSDPELG | VEEEPFHTIM | KQLLSYITKD |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| KQTESLVEKL | CQRFRTSRTE | RQQRDLAYCV | SQLPLTERGL | RKMLDNFDCF | GDKLSDESIF |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| SAFLSVVGKL | RRGAKPEGKA | IIDEFEQKLR | ACHTRGLDGI | KELEIGQAGS | QRAPSAKKPS |
| 1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
| TGSRYQPLAS | TASDNDFVTP | EPRRTTRRHP | NTQQRASKKK | PKVVFSSDES | SEEDLSAEMT |
| 1390 | 1400 | ||||
| EDETPKKTTP | ILRASARRHR | S |