Q96FL9
PR
Gene name |
GALNT14 (UNQ2434/PRO4994) |
Protein name |
Polypeptide N-acetylgalactosaminyltransferase 14 |
Names |
Polypeptide GalNAc transferase 14, GalNAc-T14, pp-GaNTase 14, Protein-UDP acetylgalactosaminyltransferase 14, UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 14 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:79623 |
EC number |
2.4.1.41: Hexosyltransferases |
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 Q96FL9
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q96FL9-F1 | Predicted | AlphaFoldDB |
532 variants for Q96FL9
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA199719 RCV000170583 rs201118996 |
425 | R>* | Non-immune hydrops fetalis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA1597296 rs766213212 |
2 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1002582670 CA45120371 |
2 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA346593993 rs1002582670 |
2 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 3 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750563603 CA1597294 |
3 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765528979 CA1597293 |
5 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA45120370 rs1036406538 |
6 | R>P | No |
ClinGen Ensembl |
|
|
CA1597290 rs139115558 |
9 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1160443628 CA346593955 |
10 | L>P | No |
ClinGen gnomAD |
|
|
CA1597289 rs761101572 |
13 | F>L | No |
ClinGen ExAC gnomAD |
|
|
TCGA novel rs1573401731 CA346593922 |
15 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA346593917 rs1320980355 |
16 | L>P | No |
ClinGen TOPMed |
|
|
CA346593894 rs1245612027 |
19 | T>M | No |
ClinGen gnomAD |
|
|
CA1597287 rs540309896 |
20 | V>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs746271232 CA1597286 |
21 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA346593847 rs1327636945 |
27 | T>A | No |
ClinGen TOPMed |
|
|
rs1488026917 CA346593832 |
29 | R>K | No |
ClinGen gnomAD |
|
|
rs747816862 CA1597283 |
29 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs754542971 CA1597282 |
31 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs746887755 CA346593813 |
32 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1597279 rs780164602 |
32 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA1597280 rs746887755 |
32 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758089860 CA1597278 |
34 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA45120367 rs887674910 |
36 | G>R | No |
ClinGen Ensembl |
|
|
rs750201727 CA1597277 |
37 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1439047877 CA346593779 |
38 | E>* | No |
ClinGen gnomAD |
|
|
CA1597276 rs764999248 |
38 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs757495433 CA1597275 COSM1207845 |
40 | Q>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC |
|
rs1048917983 CA45120366 |
41 | T>A | No |
ClinGen Ensembl |
|
|
rs199658907 CA45120365 |
42 | P>A | No |
ClinGen 1000Genomes |
|
|
rs1455699253 CA346593754 |
42 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1455699253 CA346593752 |
42 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA1597274 rs764101684 |
43 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1343889852 CA346593751 |
43 | K>Q | No |
ClinGen gnomAD |
|
|
CA1597222 rs186635790 |
44 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA346488704 rs186635790 |
44 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA44671336 rs867404786 |
45 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA346488689 rs140107954 |
46 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1488036582 CA346488693 |
46 | D>Y | No |
ClinGen gnomAD |
|
|
COSM185230 CA1597219 rs142757379 |
47 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs781294705 CA1597218 |
48 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1020322907 CA44671316 |
48 | D>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 48 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762770241 CA44671313 |
49 | W>R | No |
ClinGen Ensembl |
|
|
rs751564454 COSM1690389 CA1597216 |
51 | D>N | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA346488659 rs751564454 |
51 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780231419 CA346488652 |
52 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA346488645 rs1378200275 |
53 | W>* | No |
ClinGen TOPMed |
|
|
CA346488640 rs1347499280 |
53 | W>C | No |
ClinGen gnomAD |
|
|
rs1402440816 CA346488638 |
54 | D>N | No |
ClinGen gnomAD |
|
|
rs1477659980 CA346488634 |
54 | D>V | No |
ClinGen TOPMed |
|
|
CA346488637 rs1402440816 |
54 | D>Y | No |
ClinGen gnomAD |
|
|
CA346488623 rs1359223439 |
56 | F>I | No |
ClinGen gnomAD |
|
|
CA346488622 rs1359223439 |
56 | F>L | No |
ClinGen gnomAD |
|
|
rs758960914 CA1597214 |
56 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750969316 CA1597213 |
57 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA1597212 rs765639411 |
58 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 58 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM271270 rs1018404705 CA44671301 |
59 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs762288459 CA1597211 |
59 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758812679 CA1597209 |
60 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1597210 rs148056182 |
60 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1215911700 CA346488587 |
62 | L>V | No |
ClinGen gnomAD |
|
|
CA346488579 rs1330959083 |
63 | N>S | No |
ClinGen TOPMed |
|
| TCGA novel | 67 | W>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1597207 rs145668909 |
68 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1597205 rs200973665 |
68 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1597206 rs145668909 |
68 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1296692660 CA346488538 |
69 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA346488541 rs142294042 |
69 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs142294042 CA1597203 RCV000970820 |
69 | V>I | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA44671273 rs937404807 |
70 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs370163151 CA44671262 |
71 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA44671270 rs796347805 |
71 | D>G | No |
ClinGen Ensembl |
|
|
CA346488525 rs1450914153 |
72 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA346488520 rs1558474417 |
72 | D>V | No |
ClinGen Ensembl |
|
|
CA346488514 rs1298130844 |
73 | P>L | No |
ClinGen gnomAD |
|
|
rs1403790498 CA346488502 |
75 | K>E | No |
ClinGen gnomAD |
|
|
rs1300688166 CA346488497 |
75 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA1597200 rs768741133 |
76 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1373322436 CA346488466 |
80 | N>S | No |
ClinGen gnomAD |
|
|
CA1597196 rs143263384 |
82 | R>Q | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
COSM1253044 CA1597198 rs201652044 |
82 | R>W | oesophagus [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs559086327 CA1597194 |
85 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs143970227 CA346488427 |
86 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1597191 rs373408955 |
86 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143970227 CA1597192 |
86 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754579260 CA1597189 |
89 | S>G | No |
ClinGen ExAC |
|
|
rs1316516985 CA346488403 |
90 | N>D | No |
ClinGen gnomAD |
|
|
rs762475303 CA1597186 |
91 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1597187 rs765821121 |
91 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA346488392 rs1394969326 |
92 | A>P | No |
ClinGen gnomAD |
|
|
rs1348581737 CA346488384 |
93 | I>N | No |
ClinGen gnomAD |
|
|
rs188727997 CA1597182 |
94 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs188727997 CA1597183 |
94 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs747140991 CA1597180 |
95 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1165523731 CA346488365 |
96 | T>S | No |
ClinGen gnomAD |
|
|
rs775877765 CA1597179 |
97 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM1531744 CA1597178 rs113322802 |
97 | R>H | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA44671134 rs1008335995 |
98 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1417952059 CA346493685 |
101 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
CA346493687 rs1417952059 |
101 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs756812207 CA1597148 |
105 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs778221738 CA1597149 |
105 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs41280617 CA1597146 |
106 | Y>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs760577587 CA1597145 |
107 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1597144 rs752523719 |
108 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA44697295 rs752523719 |
108 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346493575 rs1573052906 |
109 | D>A | No |
ClinGen Ensembl |
|
|
rs759763856 CA1597142 |
110 | L>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 110 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 111 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774724717 CA1597141 |
112 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1278880945 CA346493509 |
113 | T>A | No |
ClinGen gnomAD |
|
|
rs1309321214 CA346493487 |
114 | S>N | No |
ClinGen TOPMed |
|
|
CA44697252 rs973124508 |
115 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs763126976 CA1597139 |
117 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA1597140 rs151269303 |
117 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1573052799 CA346493413 |
118 | T>P | No |
ClinGen Ensembl |
|
|
rs1558449565 CA346493374 |
119 | F>Y | No |
ClinGen Ensembl |
|
|
rs1398223866 CA346493355 |
120 | H>Y | No |
ClinGen gnomAD |
|
|
rs752782072 CA44697223 |
121 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs906988281 CA44697218 |
122 | E>K | No |
ClinGen TOPMed |
|
|
CA1597135 rs376894318 |
124 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1597134 COSM2941712 rs769014379 |
124 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA346493251 rs1400366662 |
125 | S>F | No |
ClinGen gnomAD |
|
|
rs1302392563 CA346493245 |
126 | T>A | No |
ClinGen TOPMed |
|
|
rs149129327 CA1597133 |
126 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1480323249 CA346493172 |
130 | T>S | No |
ClinGen TOPMed |
|
|
CA1597131 rs150049844 |
132 | R>C | Variant assessed as Somatic; 4.645e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs377591303 COSM1690388 CA1597130 |
132 | R>H | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs377591303 CA346493138 |
132 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 133 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1322195634 CA346492078 |
136 | N>K | No |
ClinGen gnomAD |
|
|
rs747341898 CA346492076 |
137 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs770603752 CA1597112 |
137 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770603752 CA346492075 |
137 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770603752 CA1597113 |
137 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1597114 rs747341898 |
137 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA1597111 rs140948320 |
138 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1597110 rs142569800 |
140 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs781313238 CA1597107 |
144 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
COSM1407702 CA1597108 rs199694822 |
144 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA1597105 rs751351453 |
146 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA1597106 rs755008275 |
146 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766149413 CA1597104 |
147 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766149413 CA346492022 |
147 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1384122904 CA346492013 COSM328689 |
148 | L>S | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1158844770 CA346492006 |
149 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 151 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1597102 rs750614784 |
151 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1176346329 CA346491971 |
154 | N>D | No |
ClinGen gnomAD |
|
|
CA346491955 rs749571846 |
156 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA44689884 rs889686593 |
156 | P>R | No |
ClinGen Ensembl |
|
|
CA1597101 rs749571846 |
156 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1597074 rs138858567 |
157 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs145021697 CA1597073 |
158 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1597071 rs768286610 |
163 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA346491706 rs1573032228 |
163 | I>T | No |
ClinGen Ensembl |
|
|
rs768286610 CA346491711 |
163 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1597069 rs779879199 |
167 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA1597068 rs771862824 |
168 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778736463 CA1597066 |
170 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1047986636 CA44689855 |
170 | C>W | No |
ClinGen TOPMed |
|
|
CA346491605 rs1195828801 |
171 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
rs757465089 COSM1631974 CA1597065 |
172 | R>C | Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA1597064 COSM275254 rs150208592 |
172 | R>H | lung Variant assessed as Somatic; 0.0 impact. liver large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs935722961 CA44689832 |
173 | N>D | No |
ClinGen TOPMed |
|
|
CA346491517 rs141212440 |
176 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs141212440 CA1597062 |
176 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1597063 rs777768523 |
176 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA346491505 rs1394506339 |
177 | Q>R | No |
ClinGen gnomAD |
|
|
CA346491400 rs1573031494 |
179 | L>P | No |
ClinGen Ensembl |
|
|
rs774290160 CA1597031 |
180 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA1597029 rs200913085 |
181 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs770668456 CA1597030 |
181 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs528751269 CA1597026 |
183 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs367671327 CA1597027 |
183 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1597025 rs781070541 |
184 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747470499 CA1597023 |
185 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1597024 rs148126284 |
185 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1335001890 CA346491302 |
186 | G>D | No |
ClinGen gnomAD |
|
|
rs1335001890 CA346491297 |
186 | G>V | No |
ClinGen gnomAD |
|
|
CA1597021 rs73923311 |
187 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1597020 rs73923311 |
187 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA44689564 rs750157312 |
188 | D>G | No |
ClinGen Ensembl |
|
|
CA44689566 rs1044159411 |
188 | D>N | No |
ClinGen TOPMed |
|
|
CA1597018 rs755655362 |
189 | I>N | No |
ClinGen ExAC gnomAD |
|
|
COSM1668832 CA346491253 rs1457685902 |
190 | A>T | ovary Variant assessed as Somatic; 0.0 impact. central_nervous_system [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA1597014 rs149891806 |
192 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766279646 CA1597012 |
194 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1573031181 CA346491187 |
196 | T>S | No |
ClinGen Ensembl |
|
|
rs1558439398 CA346491156 COSM3391698 |
198 | L>F | pancreas Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1200060315 CA346491149 |
199 | D>N | No |
ClinGen gnomAD |
|
|
rs772881413 CA1597010 |
201 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs929547496 CA44689508 |
204 | V>L | No |
ClinGen gnomAD |
|
|
rs929547496 CA346491076 |
204 | V>M | No |
ClinGen gnomAD |
|
|
CA1597007 rs776934740 |
205 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 206 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346491005 rs1573031030 |
207 | D>A | No |
ClinGen Ensembl |
|
|
rs1287692392 CA346490988 |
208 | W>C | No |
ClinGen gnomAD |
|
|
CA346490994 rs1573031017 |
208 | W>G | No |
ClinGen Ensembl |
|
|
CA346490968 rs1573030994 |
209 | L>P | No |
ClinGen Ensembl |
|
|
CA346490953 rs1558439328 |
210 | Q>K | No |
ClinGen Ensembl |
|
|
rs1573030981 CA346490940 |
210 | Q>P | No |
ClinGen Ensembl |
|
|
rs200918843 CA346490920 |
211 | P>A | No |
ClinGen 1000Genomes TOPMed |
|
|
CA44689494 rs200918843 |
211 | P>S | No |
ClinGen 1000Genomes TOPMed |
|
|
rs200918843 CA44689498 |
211 | P>T | No |
ClinGen 1000Genomes TOPMed |
|
|
rs532750873 CA1597006 |
215 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757175498 CA44689487 |
215 | R>S | No |
ClinGen gnomAD |
|
|
rs1573030932 CA346490829 |
216 | V>G | No |
ClinGen Ensembl |
|
|
rs1235164418 CA346490796 |
218 | E>* | No |
ClinGen gnomAD |
|
|
CA1597005 rs747055588 |
218 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA346490789 rs747055588 |
218 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA346489407 rs1439905594 |
219 | D>Y | No |
ClinGen TOPMed |
|
|
rs1183616677 CA346489388 |
220 | Y>C | No |
ClinGen TOPMed |
|
|
CA1596976 rs757951766 |
221 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA1596975 rs139825623 |
221 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1596972 rs549308784 |
222 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs761709195 CA1596973 |
222 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA44682729 rs200010181 |
223 | V>M | No |
ClinGen Ensembl |
|
|
rs775873822 CA1596970 CA1596969 |
224 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA346489339 rs1302183352 |
226 | P>L | No |
ClinGen TOPMed |
|
|
CA346489341 rs1338877906 |
226 | P>S | No |
ClinGen gnomAD |
|
|
CA346489337 rs1399889191 |
227 | V>M | No |
ClinGen TOPMed |
|
|
rs1454744666 CA346489324 |
229 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA1596967 rs759630434 |
230 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1558430067 CA346489296 |
232 | N>K | No |
ClinGen Ensembl |
|
|
rs372619349 CA1596964 |
233 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1356780047 CA346489282 |
235 | T>A | No |
ClinGen gnomAD |
|
|
rs370991103 CA1596961 |
235 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA346489265 rs1558429990 |
237 | T>I | No |
ClinGen Ensembl |
|
| TCGA novel | 238 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1596960 rs779712115 |
239 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1194615027 CA346489251 |
239 | I>S | No |
ClinGen gnomAD |
|
|
CA1596958 rs540890299 |
240 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA346489250 rs540890299 |
240 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA346489239 rs1254762040 |
241 | S>C | No |
ClinGen TOPMed |
|
|
CA44682662 rs184861589 |
242 | A>D | No |
ClinGen 1000Genomes |
|
|
rs778348392 CA1596956 COSM1407701 |
243 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA1596957 rs745364229 |
243 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs73923306 CA44682655 |
245 | L>F | No |
ClinGen 1000Genomes |
|
|
rs763929257 CA1596953 |
247 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 247 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA44682630 rs763929257 |
247 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA44682599 rs377530203 |
248 | G>R | No |
ClinGen ESP |
|
|
CA1596935 rs756168790 |
249 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs1573009832 CA346489172 |
251 | W>R | No |
ClinGen Ensembl |
|
|
rs767281270 CA1596933 |
252 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs755159802 CA1596932 |
253 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA346489130 rs1318992029 |
256 | Q>H | No |
ClinGen gnomAD |
|
|
rs1223596458 CA346489121 |
257 | W>C | No |
ClinGen gnomAD |
|
|
rs1305250705 CA346489127 |
257 | W>R | No |
ClinGen gnomAD |
|
|
CA1596931 rs751745088 |
259 | Q>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 259 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346489095 rs1402539377 |
261 | S>F | No |
ClinGen gnomAD |
|
|
CA346489094 rs1402539377 |
261 | S>Y | No |
ClinGen gnomAD |
|
|
rs766434664 CA1596930 |
262 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs199792871 CA44681832 |
266 | A>P | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs199792871 CA346489062 |
266 | A>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs199792871 CA346489063 |
266 | A>T | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1443352148 CA346489059 |
266 | A>V | No |
ClinGen TOPMed |
|
|
CA1596926 rs762369063 |
267 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA44681825 rs138204092 |
267 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1596924 COSM281306 rs143143842 |
268 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs201375957 CA1596922 |
268 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201375957 CA1596923 |
268 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs777482134 CA1596919 |
270 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA346489039 rs1259191198 |
271 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA346489040 rs1259191198 |
271 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA1596918 rs769848980 |
272 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1265519048 CA346489019 |
274 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs993760072 CA44681788 |
275 | I>M | No |
ClinGen Ensembl |
|
|
CA346489014 rs1345459801 |
275 | I>V | No |
ClinGen gnomAD |
|
|
rs1278209657 CA346489005 |
276 | R>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1463571024 CA346488946 |
278 | P>L | No |
ClinGen gnomAD |
|
|
CA346488944 rs1371449668 |
279 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1445403025 CA346488911 |
284 | L>F | No |
ClinGen gnomAD |
|
|
CA1596900 COSM574962 rs541207790 |
285 | F>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs199705312 CA1596898 |
286 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748052727 CA1596897 |
287 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs768679640 CA1596895 |
288 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1479959982 CA346488867 |
291 | W>G | No |
ClinGen gnomAD |
|
|
rs1231988701 CA346488856 |
292 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1250220935 CA346488843 |
294 | Y>H | No |
ClinGen gnomAD |
|
|
CA346488833 rs1275132291 |
295 | L>P | No |
ClinGen TOPMed |
|
|
rs141098132 CA1596894 |
297 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1389565807 CA346488795 |
300 | M>I | No |
ClinGen gnomAD |
|
|
CA1596892 rs779962125 |
300 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1194606351 CA346488763 |
304 | I>T | No |
ClinGen TOPMed |
|
|
rs1477454704 CA346488754 |
305 | W>C | No |
ClinGen TOPMed |
|
|
rs1395698749 CA346488758 |
305 | W>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1395698749 CA346488760 |
305 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
CA346488749 rs1297615864 |
306 | G>C | No |
ClinGen gnomAD |
|
|
rs758619687 CA1596891 |
306 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750651458 CA1596890 |
307 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA1596888 rs757354910 |
308 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs879141494 CA44679700 |
308 | E>Q | No |
ClinGen Ensembl |
|
|
CA1596887 rs753987782 |
310 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA346488322 rs1441972360 |
312 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1572988169 CA346488320 |
312 | I>T | No |
ClinGen Ensembl |
|
|
rs771870260 CA1596873 |
315 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs922907629 CA44672934 |
315 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA44672889 rs376736831 CA1596871 |
320 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346488268 rs376736831 |
320 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 324 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1596869 rs148988791 COSM388298 |
325 | I>M | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs139793019 CA1596867 |
326 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1558416542 CA346488224 |
327 | P>S | No |
ClinGen Ensembl |
|
|
rs753258718 CA1596866 |
328 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA44672835 rs968735687 |
330 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1361904842 CA346488201 |
331 | V>M | No |
ClinGen TOPMed |
|
|
CA346488187 rs1489872246 |
333 | H>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 334 | V>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1596861 rs764961383 |
334 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs368328840 CA1596858 |
336 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs573448407 CA1596859 |
336 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA346488147 rs1475489105 |
339 | H>Y | No |
ClinGen gnomAD |
|
|
CA1596857 rs760473532 |
340 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1190624732 CA346488132 |
341 | Y>C | No |
ClinGen gnomAD |
|
|
rs374361605 CA1596855 |
342 | V>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs374361605 CA1596854 |
342 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA346488117 rs1205343708 |
343 | F>L | No |
ClinGen gnomAD |
|
|
CA346488120 rs1426213924 |
343 | F>S | No |
ClinGen TOPMed |
|
|
CA346488116 rs1163792974 |
344 | P>A | No |
ClinGen TOPMed |
|
|
rs774186098 CA1596853 |
345 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346488093 rs1340214281 |
347 | N>S | No |
ClinGen gnomAD |
|
|
rs1272114756 CA346488085 |
348 | A>G | No |
ClinGen gnomAD |
|
|
CA346488079 rs777654707 |
349 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs777654707 CA1596850 |
349 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA1596847 rs201271515 |
350 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1596848 rs748565330 |
350 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs201271515 CA346488073 |
350 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs751959763 CA1596845 |
351 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1376622128 CA346488072 |
351 | Y>N | No |
ClinGen gnomAD |
|
|
rs1158977525 CA346488064 |
352 | I>V | No |
ClinGen gnomAD |
|
|
CA44670790 rs201724295 |
355 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201724295 CA1596821 |
355 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1596819 rs759410957 |
357 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1596820 rs757806947 |
357 | R>W | No |
ClinGen ExAC TOPMed |
|
|
CA1596818 rs150807535 |
359 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1458552376 CA346487976 CA346487974 |
363 | M>I | No |
ClinGen TOPMed |
|
|
rs1320819436 CA346487972 |
364 | D>H | No |
ClinGen TOPMed |
|
|
CA346487941 rs1289534504 |
368 | Q>K | No |
ClinGen gnomAD |
|
|
rs766047190 CA1596817 |
368 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA1596816 rs762779493 |
369 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1360772491 CA346487934 |
369 | Y>H | No |
ClinGen TOPMed |
|
|
rs147474295 CA1596815 |
371 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs531692673 CA346487912 |
372 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs531692673 CA1596813 |
372 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 373 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1243952334 CA346487904 |
373 | A>V | No |
ClinGen TOPMed |
|
|
rs747472396 CA346487899 |
374 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM721265 CA1596810 rs747472396 |
374 | R>Q | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA346487900 rs1422310831 |
374 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 375 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346487890 rs1330942968 |
376 | F>L | No |
ClinGen TOPMed |
|
|
rs200133273 CA346487885 |
376 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1596808 rs772501273 |
377 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1596807 rs746228117 |
380 | R>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 381 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 381 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1480740304 CA346487847 |
382 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs779207775 CA1596806 |
383 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752359557 CA1596804 |
384 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA346595068 rs1319560787 |
385 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1453185838 CA346595059 |
386 | E>* | No |
ClinGen gnomAD |
|
|
CA1596784 rs543670916 |
386 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1334673273 CA346595031 |
388 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1572975158 CA346594987 |
391 | L>Q | No |
ClinGen Ensembl |
|
|
rs779498589 CA1596783 |
393 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346594951 rs1430464805 |
394 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1596782 rs377585928 |
396 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA1596781 COSM1531747 rs146467165 |
396 | R>H | lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA346594926 rs1445681697 |
397 | C>R | No |
ClinGen gnomAD |
|
|
CA1596778 rs753730118 |
401 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765036337 CA1596780 |
401 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA45110730 rs756391781 |
401 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1596779 rs756391781 |
401 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1405420261 CA346594860 |
402 | W>* | No |
ClinGen TOPMed |
|
|
rs1206007901 CA346594833 |
404 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA346594825 rs1572975033 |
405 | E>G | No |
ClinGen Ensembl |
|
|
CA45110729 rs951252823 |
408 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs199731528 CA1596777 |
409 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753333327 CA45110728 |
411 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1246406261 CA346594729 |
412 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA346594731 rs1246406261 |
412 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA1596760 rs753677228 |
413 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA45110677 rs866998556 |
414 | P>L | No |
ClinGen gnomAD |
|
|
CA346594694 rs866998556 |
414 | P>R | No |
ClinGen gnomAD |
|
|
rs756299828 CA1596758 |
415 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1558408029 CA346594684 |
416 | E>* | No |
ClinGen Ensembl |
|
|
CA45110676 rs1045023 |
417 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1596756 rs1045023 |
417 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs201882471 CA1596754 |
421 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 422 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs868166769 CA45110675 |
422 | G>S | No |
ClinGen Ensembl |
|
|
CA1596753 rs766858847 |
423 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs775642668 CA45110674 |
424 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
CA45110673 COSM1020081 rs955498267 |
425 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA1596750 rs760329260 |
426 | Q>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs771801668 CA1596748 |
427 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771801668 CA1596749 |
427 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs35717878 CA1596747 |
428 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1596746 rs369943441 |
428 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1335367143 CA346594540 |
430 | C>Y | No |
ClinGen TOPMed |
|
|
CA346594512 rs749249141 |
432 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1596742 rs374248389 |
436 | Q>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346594440 rs1168451392 |
439 | Q>* | No |
ClinGen gnomAD |
|
|
CA346594437 rs1481165813 |
439 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 441 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1596740 rs371980640 |
442 | P>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA346594404 rs1375550100 |
442 | P>S | No |
ClinGen gnomAD |
|
|
rs1447241809 CA346594391 |
443 | N>S | No |
ClinGen gnomAD |
|
|
rs755284672 CA1596738 |
445 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346594376 rs755284672 |
445 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA45110670 rs1057365541 COSM1020079 |
447 | S>N | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA45110669 rs867134487 |
449 | C>W | No |
ClinGen TOPMed |
|
|
CA1596736 rs766451616 COSM574966 |
450 | A>D | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs766451616 CA346594075 |
450 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA45110667 rs1027601383 |
451 | K>R | No |
ClinGen Ensembl |
|
|
CA1596734 rs763395635 |
452 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346594050 rs1232747339 |
454 | G>D | No |
ClinGen gnomAD |
|
|
rs750951954 CA1596733 |
454 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA1596731 rs145602304 |
455 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1596730 rs190093039 |
456 | D>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1596729 rs771614941 |
457 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA346594014 rs1196234482 |
460 | Q>* | No |
ClinGen TOPMed |
|
|
rs759227945 CA1596728 |
460 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs199673738 CA45109235 |
461 | V>I | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1050336212 CA45109234 |
462 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA1596709 rs764528609 |
463 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs187912292 CA1596710 |
463 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs901667041 CA45109233 |
464 | F>V | No |
ClinGen TOPMed |
|
|
rs774174445 CA1596708 |
465 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1596707 rs774174445 |
465 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346593695 rs1230449764 |
467 | T>I | No |
ClinGen gnomAD |
|
|
CA45109232 rs868346644 |
468 | Q>* | No |
ClinGen Ensembl |
|
|
CA346593685 rs2288101 |
469 | Q>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_033948 rs2288101 CA1596704 |
469 | Q>K | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA45109231 rs926166619 |
471 | L>I | No |
ClinGen Ensembl |
|
|
CA346593664 rs1306105556 |
472 | Q>* | No |
ClinGen gnomAD |
|
|
CA346593650 rs1442261411 |
474 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA346593608 rs1258947040 |
480 | I>T | No |
ClinGen Ensembl |
|
|
rs776231553 CA1596701 |
481 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs553413687 CA346593603 |
481 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1596700 rs553413687 |
481 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1048696828 CA45109229 |
484 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs149431826 CA346593574 |
486 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1596697 rs149431826 COSM1020078 |
486 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1296632084 CA346593569 |
487 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA346593563 rs1159120153 |
488 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1473551797 CA346593558 |
489 | V>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 490 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346593544 rs1379181021 |
491 | V>F | No |
ClinGen TOPMed |
|
|
CA346593525 rs1437397248 |
494 | K>E | No |
ClinGen TOPMed |
|
|
rs1175135577 CA346593506 |
496 | G>A | No |
ClinGen TOPMed |
|
|
rs565915587 CA45109228 |
497 | D>Y | No |
ClinGen 1000Genomes |
|
|
rs770052031 CA45109227 |
498 | D>A | No |
ClinGen Ensembl |
|
|
CA1596696 rs73921188 |
498 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 498 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346593497 rs1180109339 |
498 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA1596694 rs35447902 |
499 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA346593490 rs35447902 |
499 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754388586 CA1596693 |
499 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1596692 rs764322921 |
500 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346593459 rs1425628717 |
502 | W>R | No |
ClinGen TOPMed |
|
|
rs1470280165 CA346593446 |
503 | T>I | No |
ClinGen gnomAD |
|
|
CA346593444 rs1165622385 |
504 | K>E | No |
ClinGen TOPMed |
|
|
CA346593421 rs781693188 |
507 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1596668 rs781693188 |
507 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346593418 rs1431587783 |
508 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
CA1596667 rs758066912 |
508 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs565883379 CA1596665 |
509 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346593412 COSM1690385 rs1424809441 |
509 | I>V | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA346593406 rs973285495 |
510 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA45109079 rs973285495 |
510 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA45109078 rs372565159 |
512 | I>V | No |
ClinGen ESP |
|
|
CA1596662 rs764008117 |
513 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA1596658 rs775203378 |
514 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1400468678 CA346593379 |
514 | S>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 517 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759633341 CA1596656 |
518 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs150328877 CA346593349 |
519 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150328877 CA1596654 COSM1690384 |
519 | D>N | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA346593324 rs1362719823 |
522 | M>T | No |
ClinGen gnomAD |
|
|
rs770358878 CA1596652 |
523 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA45109076 rs151144957 |
524 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs151144957 CA1596650 |
524 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346593309 rs1288518196 |
524 | G>V | No |
ClinGen TOPMed |
|
|
rs200522917 CA45109075 |
526 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200522917 CA1596649 |
526 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs778608668 CA1596646 |
527 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346593293 rs778608668 |
527 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778608668 CA1596647 |
527 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763603221 CA1596643 |
528 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1596644 COSM3939068 rs753387439 |
528 | E>K | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA1596641 rs201589708 |
530 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA1596640 rs767480097 |
531 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs759350736 CA1596639 |
532 | E>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 533 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs551834022 CA1596637 |
534 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1596636 rs202186542 |
535 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770016745 CA1596634 |
535 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA45109074 COSM721266 rs202186542 |
535 | V>I | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs202186542 CA1596635 |
535 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777248765 CA1596632 |
536 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1432902177 CA346593237 |
537 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1432902177 CA346593236 COSM1690382 |
537 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1323420102 CA346593232 |
538 | C>R | No |
ClinGen gnomAD |
|
|
rs868796616 CA45109073 |
538 | C>W | No |
ClinGen Ensembl |
|
|
rs769094837 CA1596631 |
542 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs756871233 CA1596628 |
543 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1596630 rs373001089 |
543 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA45109072 rs577646417 |
543 | M>R | No |
ClinGen gnomAD |
|
|
CA1596629 rs373001089 |
543 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1596627 rs777221227 |
544 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA1596626 rs777221227 |
544 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 545 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346593184 rs1368956410 |
545 | Q>R | No |
ClinGen gnomAD |
|
|
rs752251096 CA346593176 COSM1020074 |
546 | H>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA1596625 rs755587020 |
546 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA1596623 rs767426919 |
547 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA346593151 rs1423766151 |
549 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs866967833 CA45109071 |
549 | M>T | No |
ClinGen Ensembl |
|
|
rs1239848261 COSM176318 CA346593157 |
549 | M>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs754936068 CA1596622 |
550 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1211441801 CA346593142 |
551 | S>N | No |
ClinGen TOPMed |
|
|
CA1596621 rs751300380 |
552 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA346593130 rs1175414446 |
553 | S>G | No |
ClinGen gnomAD |
|
|
CA346593128 rs1481865527 |
553 | S>L | No |
ClinGen gnomAD |
No associated diseases with Q96FL9
Functions
| Description | ||
|---|---|---|
| EC Number | 2.4.1.41 | Hexosyltransferases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| Golgi membrane | The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| carbohydrate binding | Binding to a carbohydrate, which includes monosaccharides, oligosaccharides and polysaccharides as well as substances derived from monosaccharides by reduction of the carbonyl group (alditols), by oxidation of one or more hydroxy groups to afford the corresponding aldehydes, ketones, or carboxylic acids, or by replacement of one or more hydroxy group(s) by a hydrogen atom. Cyclitols are generally not regarded as carbohydrates. |
| metal ion binding | Binding to a metal ion. |
| polypeptide N-acetylgalactosaminyltransferase activity | Catalysis of the reaction: UDP-N-acetyl-D-galactosamine + polypeptide = UDP + N-acetyl-D-galactosaminyl-polypeptide. This reaction is the modification of serine or threonine residues in polypeptide chains by the transfer of a N-acetylgalactose from UDP-N-acetylgalactose to the hydroxyl group of the amino acid; it is the first step in O-glycan biosynthesis. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| O-glycan processing | The stepwise addition of carbohydrate or carbohydrate derivative residues to the initially added O-linked residue (usually GalNAc) to form a core O-glycan structure. |
| protein O-linked glycosylation | A protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of peptidyl-serine, peptidyl-threonine, peptidyl-hydroxylysine, or peptidyl-hydroxyproline, or via the phenol group of peptidyl-tyrosine, forming an O-glycan. |
11 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q86SF2 | GALNT7 | N-acetylgalactosaminyltransferase 7 | Homo sapiens (Human) | PR |
| Q86SR1 | GALNT10 | Polypeptide N-acetylgalactosaminyltransferase 10 | Homo sapiens (Human) | PR |
| Q49A17 | GALNTL6 | Polypeptide N-acetylgalactosaminyltransferase-like 6 | Homo sapiens (Human) | PR |
| Q8IUC8 | GALNT13 | Polypeptide N-acetylgalactosaminyltransferase 13 | Homo sapiens (Human) | PR |
| Q10471 | GALNT2 | Polypeptide N-acetylgalactosaminyltransferase 2 | Homo sapiens (Human) | PR |
| Q8IXK2 | GALNT12 | Polypeptide N-acetylgalactosaminyltransferase 12 | Homo sapiens (Human) | PR |
| Q14435 | GALNT3 | Polypeptide N-acetylgalactosaminyltransferase 3 | Homo sapiens (Human) | PR |
| Q9NY28 | GALNT8 | Probable polypeptide N-acetylgalactosaminyltransferase 8 | Homo sapiens (Human) | PR |
| Q7Z7M9 | GALNT5 | Polypeptide N-acetylgalactosaminyltransferase 5 | Homo sapiens (Human) | PR |
| Q10472 | GALNT1 | Polypeptide N-acetylgalactosaminyltransferase 1 | Homo sapiens (Human) | PR |
| Q8BVG5 | Galnt14 | Polypeptide N-acetylgalactosaminyltransferase 14 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MRRLTRRLVL | PVFGVLWITV | LLFFWVTKRK | LEVPTGPEVQ | TPKPSDADWD | DLWDQFDERR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| YLNAKKWRVG | DDPYKLYAFN | QRESERISSN | RAIPDTRHLR | CTLLVYCTDL | PPTSIIITFH |
| 130 | 140 | 150 | 160 | 170 | 180 |
| NEARSTLLRT | IRSVLNRTPT | HLIREIILVD | DFSNDPDDCK | QLIKLPKVKC | LRNNERQGLV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RSRIRGADIA | QGTTLTFLDS | HCEVNRDWLQ | PLLHRVKEDY | TRVVCPVIDI | INLDTFTYIE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SASELRGGFD | WSLHFQWEQL | SPEQKARRLD | PTEPIRTPII | AGGLFVIDKA | WFDYLGKYDM |
| 310 | 320 | 330 | 340 | 350 | 360 |
| DMDIWGGENF | EISFRVWMCG | GSLEIVPCSR | VGHVFRKKHP | YVFPDGNANT | YIKNTKRTAE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VWMDEYKQYY | YAARPFALER | PFGNVESRLD | LRKNLRCQSF | KWYLENIYPE | LSIPKESSIQ |
| 430 | 440 | 450 | 460 | 470 | 480 |
| KGNIRQRQKC | LESQRQNNQE | TPNLKLSPCA | KVKGEDAKSQ | VWAFTYTQQI | LQEELCLSVI |
| 490 | 500 | 510 | 520 | 530 | 540 |
| TLFPGAPVVL | VLCKNGDDRQ | QWTKTGSHIE | HIASHLCLDT | DMFGDGTENG | KEIVVNPCES |
| 550 | |||||
| SLMSQHWDMV | SS |