AiPD: Autoinhibited Protein Database

P50443

Gene name	SLC26A2 (DTD, DTDST)
Protein name	Sulfate transporter
Names	Diastrophic dysplasia protein, Solute carrier family 26 member 2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:1836
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

1-68 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-68 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

2 structures for P50443

Entry ID	Method	Resolution	Chain	Position	Source
7XLM	EM	373 A	A/B	1-739	PDB
AF-P50443-F1	Predicted				AlphaFoldDB

675 variants for P50443

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1554095084 RCV000665913	1	M>I	Multiple epiphyseal dysplasia type 4 [ClinVar]	Yes	ClinVar dbSNP
RCV001247326 rs1459144096 RCV002241565	5	S>missing	Achondrogenesis, type IB Diastrophic dysplasia [ClinVar]	Yes	ClinVar dbSNP
CA263266 rs386833505 RCV000049433	16	S>*	Diastrophic dysplasia [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000049435 RCV001853039 rs386833507 CA263272 RCV000780714	19	G>*	Achondrogenesis, type ib (acg1b) Sulfate transporter-related osteochondrodysplasia Achondrogenesis, type IB Diastrophic dysplasia [Ensembl, ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1554095097 RCV000671306	21	D>missing	Multiple epiphyseal dysplasia type 4 [ClinVar]	Yes	ClinVar dbSNP
rs1755018682 RCV001238172	47	Q>missing	Achondrogenesis, type IB [ClinVar]	Yes	ClinVar dbSNP
RCV001828598 RCV001193471 rs1265764649	49	R>missing	Sulfate transporter-related osteochondrodysplasia Achondrogenesis, type IB [ClinVar]	Yes	ClinVar dbSNP
rs1755018969 RCV001296270	50	P>L	Achondrogenesis, type IB [ClinVar]	Yes	ClinVar dbSNP
COSM1064217 CA216019 RCV000054570 RCV001271550 RCV001069051 rs369318758	58	R>C	Variant assessed as Somatic; 0.0 impact. endometrium Achondrogenesis, type IB [NCI-TCGA, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000411463 RCV000409043 rs1057517523 RCV000410073 CA16040984 RCV000409914	62	S>*	Atelosteogenesis type II Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1057517496 RCV000411718 RCV000410879 RCV000409732 RCV000412405	63	D>missing	Atelosteogenesis type II Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia [ClinVar]	Yes	ClinVar dbSNP
RCV000410474 RCV000409375 RCV000409102 rs1057517462 RCV000411549	69	F>missing	Atelosteogenesis type II Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia [ClinVar]	Yes	ClinVar dbSNP
RCV001347952 rs1204857377 RCV001825944	76	K>missing	Achondrogenesis, type IB [ClinVar]	Yes	ClinVar dbSNP
RCV000398136 RCV001154972 RCV001154974 RCV001154973 RCV000539759 CA3505223 RCV001812767 rs76784312 RCV001154133 RCV000987616	77	N>H	Atelosteogenesis type II Achondrogenesis, type ib (acg1b) Sulfate transporter-related osteochondrodysplasia Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia [ClinVar, Ensembl]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1755020578 RCV001253229	79	Q>*	Achondrogenesis, type IB [ClinVar]	Yes	ClinVar dbSNP
rs1057517504 RCV000411597 RCV000410521 RCV000409029 RCV000409666 RCV001382282	82	P>missing	Atelosteogenesis type II Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia [ClinVar]	Yes	ClinVar dbSNP
rs386833502 RCV000049430	87	N>missing	Diastrophic dysplasia [ClinVar]	Yes	ClinVar dbSNP
RCV001156641 rs771569066 RCV001154977 RCV001154978 RCV001154975 RCV001154976 CA3505227	94	P>S	Atelosteogenesis type II Sulfate transporter-related osteochondrodysplasia Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001007924 rs1581230727	100	P>missing	Achondrogenesis, type IB [ClinVar]	Yes	ClinVar dbSNP
RCV000673496 rs1554095125	109	L>missing	Multiple epiphyseal dysplasia type 4 [ClinVar]	Yes	ClinVar dbSNP
rs1554095126 RCV000673694	110	G>VG	Multiple epiphyseal dysplasia type 4 [ClinVar]	Yes	ClinVar dbSNP
rs386833503 RCV000049431 CA263260	111	D>Y	Diastrophic dysplasia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs875989951 RCV000211636 CA10576339	125	Q>L	Atelosteogenesis type II [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000668759 CA361704888 rs1554095137	129	Y>*	Multiple epiphyseal dysplasia type 4 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000410549 RCV000411386 RCV000004304 RCV000409927 rs786200881 RCV001851639	131	L>missing	Atelosteogenesis type II Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia [ClinVar]	Yes	ClinVar dbSNP
CA252998 RCV000004316 rs267607055	133	A>V	Diastrophic dysplasia [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000049432 RCV000798188 rs386833504 CA263263	135	Q>K	Achondrogenesis, type IB Diastrophic dysplasia [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000673763 rs769859976 RCV001215180	146	F>missing	Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 [ClinVar]	Yes	ClinVar dbSNP
rs769859976 RCV000813006	147	A>missing	Achondrogenesis, type IB [ClinVar]	Yes	ClinVar dbSNP
RCV000780715 rs786204675 RCV000169481 RCV001850400	151	Y>missing	Sulfate transporter-related osteochondrodysplasia Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 [ClinVar]	Yes	ClinVar dbSNP
rs143658243 CA3505255 RCV001329030	158	R>H	Achondrogenesis, type IB [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000411337 RCV000410244 rs763198695 RCV000411191 RCV001041550 RCV000780713 RCV000409216	162	V>missing	Atelosteogenesis type II Sulfate transporter-related osteochondrodysplasia Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia [ClinVar]	Yes	ClinVar dbSNP
CA263269 RCV000049434 rs386833506	166	G>R	Diastrophic dysplasia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1554095145 RCV000669407	167	V>missing	Multiple epiphyseal dysplasia type 4 [ClinVar]	Yes	ClinVar dbSNP
rs104893919 RCV001030754 CA259839 RCV000412934 RCV000004310 RCV000023568 RCV000175526 RCV000411745 RCV000690242 RCV000590163 RCV000779467	178	R>*	3MC syndrome 2 Atelosteogenesis type II Achondrogenesis, type ib (acg1b) Sulfate transporter-related osteochondrodysplasia 3mc syndrome 2 (3mc2) Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia SLC26A2-Related Disorders [ClinVar, Ensembl]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA3505268 RCV001836320 RCV001327865 rs747117439	178	R>Q	Achondrogenesis, type IB [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1057517483 RCV000411159 RCV000409182 RCV000410110 CA16040988 RCV000412066	181	Q>*	Atelosteogenesis type II Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1554095154 RCV000668851 RCV001861770	192	P>*	Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 [ClinVar]	Yes	ClinVar dbSNP
RCV000673374 CA361705356 rs1554095156	204	L>*	Multiple epiphyseal dysplasia type 4 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1554095167 RCV000674939	215	S>missing	Multiple epiphyseal dysplasia type 4 [ClinVar]	Yes	ClinVar dbSNP
RCV001083640 RCV000296419 CA3505288 RCV000601970 rs35919114 RCV000387970 RCV000382551 RCV000344323 RCV002278585 RCV000290481 RCV001812898	219	I>V	Connective tissue disorder Atelosteogenesis type II Sulfate transporter-related osteochondrodysplasia Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001156642 RCV001151177 rs75097996 RCV002070828 RCV001151175 RCV001151176 CA3505292 RCV001156643	232	Y>F	Atelosteogenesis type II Sulfate transporter-related osteochondrodysplasia Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000811272 rs1429562386 CA361705546	233	Q>*	Achondrogenesis, type ib (acg1b) Achondrogenesis, type IB [Ensembl, ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001578821 COSM149990 rs777906405 RCV000756642 RCV001578822 RCV001578823 RCV001578824 CA3505311 RCV002533794	235	A>V	Atelosteogenesis type II endometrium Achondrogenesis, type IB stomach Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
RCV002514249 rs386833508 RCV000049437	236	M>missing	Achondrogenesis, type IB Diastrophic dysplasia [ClinVar]	Yes	ClinVar dbSNP
rs758186195 CA3505313 RCV001277839	237	G>S	Achondrogenesis, type IB [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001154240 RCV001154238 rs1228615816 RCV001154236 RCV001154239 CA361706096 RCV001154237	237	G>V	Atelosteogenesis type II Sulfate transporter-related osteochondrodysplasia Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001830283 rs746734591 RCV001314538 CA3505315 RCV001810723	238	F>V	Achondrogenesis, type IB [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1755069507 RCV001341511	240	Q>E	Achondrogenesis, type IB [ClinVar]	Yes	ClinVar dbSNP
RCV000410335 RCV001861404 RCV000411764 RCV000411172 RCV000409205 rs1057517524	246	V>missing	Atelosteogenesis type II Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia [ClinVar]	Yes	ClinVar dbSNP
RCV000756643 rs768745973 RCV001835949 CA3505316	247	Y>C	Achondrogenesis, type IB [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA16040991 RCV000409471 RCV000410567 RCV000411690 rs1057517514 RCV000409703	249	S>*	Atelosteogenesis type II Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA252992 rs104893917 VAR_007434 RCV000004308 RCV000675076 RCV001851640	255	G>E	Atelosteogenesis type II Achondrogenesis, type ib (acg1b) Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 AO2; significant loss of sulfate transport [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt ESP TOPMed dbSNP gnomAD
RCV000667661 CA361706227 RCV002530719 VAR_066835 rs1419613966	256	F>S	Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 EDM4 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
RCV002532114 rs769319202 CA3505319 RCV002531295 RCV000671782	259	G>V	Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV002282170 RCV000700530 CA3505321 RCV001154241 rs114260147 RCV001154243 RCV001155088 RCV001155089 RCV001154242 RCV000489445	261	S>C	Atelosteogenesis type II Sulfate transporter-related osteochondrodysplasia Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000368363 rs886060223 RCV000263261 CA10623451 RCV000298580 RCV000311380 RCV000355502	265	L>F	Atelosteogenesis type II Sulfate transporter-related osteochondrodysplasia Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs199789515 CA3505323 RCV000664792	266	T>I	Multiple epiphyseal dysplasia type 4 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs750882937 RCV001204217	275	L>missing	Achondrogenesis, type IB [ClinVar]	Yes	ClinVar dbSNP
RCV000004306 RCV001030752 RCV000641290 RCV000999764 CA252990 RCV000266165 RCV000586600 RCV000624686 RCV001030753 VAR_007435 rs104893915 RCV002276530 RCV000275762 RCV000004307 RCV000004305	279	R>W	Connective tissue disorder 3MC syndrome 2 Atelosteogenesis type II Achondrogenesis, type ib (acg1b) Sulfate transporter-related osteochondrodysplasia 3mc syndrome 2 (3mc2) Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Inborn genetic diseases SLC26A2-Related Disorders Diastrophic dysplasia AO2 and EDM4; reduced sulfate transport; significant reduction in sulfate-oxalate exchange activity; no effect on cell membrane localization [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1755073505 RCV001151297 RCV001156742 RCV001156744 RCV001156741 RCV001156743	281	N>H	Atelosteogenesis type II Sulfate transporter-related osteochondrodysplasia Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia [ClinVar]	Yes	ClinVar dbSNP
RCV002559460 RCV001151298 RCV001151302 rs571410872 RCV001151299 RCV001151300 RCV001151301 CA129083833	282	G>C	Atelosteogenesis type II Sulfate transporter-related osteochondrodysplasia Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Inborn genetic diseases Diastrophic dysplasia [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000366406 RCV001859600 rs571410872 CA3505334	282	G>R	Achondrogenesis, type IB [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000666178 rs1225601391	289	T>*	Multiple epiphyseal dysplasia type 4 [ClinVar]	Yes	ClinVar dbSNP
rs1025069199 RCV001825601 CA129083884 RCV000807178	298	H>N	Achondrogenesis, type IB [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000049438 rs386833509	302	L>*	Diastrophic dysplasia [ClinVar]	Yes	ClinVar dbSNP
rs1057517526 RCV000409922 RCV000410085 RCV000411035 RCV000412037	307	T>missing	Atelosteogenesis type II Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia [ClinVar]	Yes	ClinVar dbSNP
rs1057517495 RCV001782880 RCV000409603 RCV000410472 RCV000411979 RCV000410703	308	S>missing	Atelosteogenesis type II Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia [ClinVar]	Yes	ClinVar dbSNP
RCV000672806 rs1554095296	309	L>missing	Multiple epiphyseal dysplasia type 4 [ClinVar]	Yes	ClinVar dbSNP
rs377432261 RCV001378389 CA3505355 RCV000998468	311	C>R	Variant assessed as Somatic; 0.0 impact. Achondrogenesis, type IB [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ESP ExAC NCI-TCGA dbSNP gnomAD
VAR_007436	340	V>del	ACG1B; reduced sulfate transport; loss of cell membrane localization [UniProt]	Yes	UniProt
RCV001004172 rs121908077 RCV000355352 RCV000586327 RCV000055756 RCV001810418 RCV001050109 RCV000023571	341	V>missing	Atelosteogenesis type II Sulfate transporter-related osteochondrodysplasia Achondrogenesis, type IB Diastrophic dysplasia [ClinVar]	Yes	ClinVar dbSNP
RCV000665125 rs1554095304	343	A>missing	Multiple epiphyseal dysplasia type 4 [ClinVar]	Yes	ClinVar dbSNP
CA3505378 RCV000765823 RCV000312752 RCV000591740 RCV000338459 rs114212275 RCV000399511 RCV000281048 RCV000390859	349	F>Y	Atelosteogenesis type II Sulfate transporter-related osteochondrodysplasia Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3505379 rs758078719 RCV001825982 RCV001352588	353	H>Y	Achondrogenesis, type IB [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA16040994 RCV000410579 RCV000410391 rs1057517532 RCV000411229 RCV000409259 RCV001218289	354	E>*	Atelosteogenesis type II Variant assessed as Somatic; impact. Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar Ensembl NCI-TCGA dbSNP
RCV000390686 rs139051143 RCV001156842 RCV002278323 RCV001156841 RCV001155191 RCV001155192 RCV001155190 RCV000705851 CA3505383	361	A>T	Connective tissue disorder Atelosteogenesis type II Sulfate transporter-related osteochondrodysplasia Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000049421 CA263247 RCV001388086 rs386833493	386	A>V	Achondrogenesis, type IB Diastrophic dysplasia [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA243100 RCV002516719 RCV000176985 rs794727476	393	G>D	Achondrogenesis, type IB [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs201714602 CA3505409 RCV000805701 RCV003166250	412	V>I	Achondrogenesis, type IB Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs386833494 RCV000049422	415	N>missing	Diastrophic dysplasia [ClinVar]	Yes	ClinVar dbSNP
rs374309119 RCV000405737 RCV000307340 RCV000272149 RCV000364384 CA3505410 RCV002520337 RCV000370170	418	M>V	Atelosteogenesis type II Sulfate transporter-related osteochondrodysplasia Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000055757 VAR_007437 RCV001851641 CA259842 rs104893920 RCV000023569	425	N>D	Achondrogenesis, type ib (acg1b) Achondrogenesis, type IB Diastrophic dysplasia ACG1B; significant loss of sulfate transport [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000410215 RCV000411307 rs1057517471 RCV000412220 RCV000411541	438	A>missing	Atelosteogenesis type II Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia [ClinVar]	Yes	ClinVar dbSNP
RCV000410772 RCV000409624 RCV000411621 rs1057517502 RCV000411028	447	E>missing	Atelosteogenesis type II Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia [ClinVar]	Yes	ClinVar dbSNP
RCV001036925 rs771098555 CA3505424	448	S>*	Achondrogenesis, type IB [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA361707702 rs1255485754 RCV001323481	452	H>R	Achondrogenesis, type IB [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000004311 rs104893921 CA116646 VAR_018654 RCV000055758	454	Q>P	Diastrophic dysplasia, broad bone-platyspondylic variant Diastrophic dysplasia diatrophic dysplasia; broad bone-platyspondylic variant; no effect on sulfate transport and cell membrane localization [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000049423 RCV000410056 RCV000412478 RCV000410943 rs386833495	465	L>missing	Atelosteogenesis type II Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia [ClinVar]	Yes	ClinVar dbSNP
rs886060224 RCV000323851 RCV000371545 RCV000358575 CA10619657 RCV000329494 RCV000266212	468	L>F	Atelosteogenesis type II Sulfate transporter-related osteochondrodysplasia Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs780990131 RCV001234308	474	L>missing	Achondrogenesis, type IB [ClinVar]	Yes	ClinVar dbSNP
RCV001326550 CA3505435 rs145765282 RCV001277840	476	Y>C	Achondrogenesis, type IB [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001062264 rs1755089179	478	L>missing	Achondrogenesis, type IB [ClinVar]	Yes	ClinVar dbSNP
RCV000673168 RCV001382581 rs745774620	481	S>missing	Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 [ClinVar]	Yes	ClinVar dbSNP
RCV000049424 CA263252 rs386833496	484	G>D	Diastrophic dysplasia [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA202198 RCV000401654 rs78676079 RCV001573204 RCV000055759 RCV000169071 RCV000352511 RCV000407142 RCV000525040 RCV002277136 RCV000176980	492	R>W	Connective tissue disorder Atelosteogenesis type II Sulfate transporter-related osteochondrodysplasia Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA129084421 RCV000354703 RCV000367416 CA3505452 RCV000407213 RCV000259647 RCV001084518 RCV000361664 RCV000299908 rs76668544	504	M>I	Atelosteogenesis type II Sulfate transporter-related osteochondrodysplasia Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia [ClinVar]	Yes	ClinGen 1000Genomes ExAC TOPMed gnomAD ClinVar dbSNP
RCV000004314 CA116649 RCV002512749 RCV000004315 rs121908078	512	T>K	De la Chapelle dysplasia Achondrogenesis, type IB Diastrophic dysplasia [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000410828 RCV000409864 rs1057517511 RCV000412349 RCV001850977 RCV000409678	514	I>missing	Atelosteogenesis type II Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia [ClinVar]	Yes	ClinVar dbSNP
CA361708139 RCV000761587 rs1561822760	522	S>F	Multiple epiphyseal dysplasia type 4 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000665555 rs1554095356	533	V>missing	Multiple epiphyseal dysplasia type 4 [ClinVar]	Yes	ClinVar dbSNP
RCV000667087 rs769657401	536	C>missing	Multiple epiphyseal dysplasia type 4 [ClinVar]	Yes	ClinVar dbSNP
rs762087746 RCV001156956 CA3505465 RCV001156959 RCV001156960 RCV001156958 RCV001156957	537	F>L	Atelosteogenesis type II Sulfate transporter-related osteochondrodysplasia Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001242692 rs1755093032	542	V>missing	Achondrogenesis, type IB [ClinVar]	Yes	ClinVar dbSNP
RCV001151532 RCV001156963 CA3505468 rs200897133 RCV001156962 RCV002557267 RCV001156961 RCV001151533	545	R>C	Atelosteogenesis type II Sulfate transporter-related osteochondrodysplasia Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA3505469 RCV001246134 RCV001829980 rs745802790	545	R>H	Achondrogenesis, type IB [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000411088 RCV000409746 rs1057517482 RCV000409538 RCV000412144	550	K>missing	Atelosteogenesis type II Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia [ClinVar]	Yes	ClinVar dbSNP
RCV001577836 RCV002509193 rs386833497 RCV000641291 RCV000049425 RCV000305551 RCV001826705 RCV000169577	551	S>missing	Sulfate transporter-related osteochondrodysplasia Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 SLC26A2-Related Disorders Diastrophic dysplasia [ClinVar]	Yes	ClinVar dbSNP
rs1755094376 RCV001193470 RCV001390701	552	S>*	Sulfate transporter-related osteochondrodysplasia Achondrogenesis, type IB [ClinVar]	Yes	ClinVar dbSNP
RCV000588352 RCV000809074 rs766836061 CA361708540	569	Y>*	Sulfate transporter-related osteochondrodysplasia Achondrogenesis, type IB [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs30832 RCV000360315 RCV000320835 CA202204 VAR_058415 RCV000176982 RCV000271433 RCV001522246 RCV000384666 RCV000589115 RCV000265444 RCV002277383	574	I>T	Connective tissue disorder Atelosteogenesis type II Sulfate transporter-related osteochondrodysplasia Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs386833498 RCV000817526 RCV000023567 RCV000004302 RCV000004303 RCV002276529 RCV000586135	575	K>missing	Connective tissue disorder Atelosteogenesis type II Sulfate transporter-related osteochondrodysplasia Achondrogenesis, type IB Diastrophic dysplasia [ClinVar]	Yes	ClinVar dbSNP
CA3505483 RCV000380779 RCV000350699 rs142542254 RCV000386532 RCV000326566 RCV000295676 RCV000698655	582	R>C	Atelosteogenesis type II Sulfate transporter-related osteochondrodysplasia Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001155385 rs368864462 RCV001155382 RCV002558347 RCV001155383 RCV001155384 CA3505484 RCV001155386	582	R>H	Atelosteogenesis type II Sulfate transporter-related osteochondrodysplasia Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA361708728 RCV001855439 RCV000665350 rs1554095364	588	Y>*	Achondrogenesis, type ib (acg1b) Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 [Ensembl, ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs905644652 RCV001212481	593	E>*	Achondrogenesis, type IB [ClinVar]	Yes	ClinVar dbSNP
RCV001151619 RCV001151622 RCV001151623 RCV001151620 RCV002559461 RCV001151621 CA361708784 rs1387357203	596	K>E	Atelosteogenesis type II Sulfate transporter-related osteochondrodysplasia Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV002524629 RCV000412069 rs1057517530 RCV000411101 RCV000409656 RCV000410954	603	T>missing	Atelosteogenesis type II Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia [ClinVar]	Yes	ClinVar dbSNP
rs1554095374 RCV001855528 RCV000669769	606	P>missing	Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 [ClinVar]	Yes	ClinVar dbSNP
CA3505498 RCV001343906 rs767618201	606	P>T	Achondrogenesis, type IB [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1554095381 RCV000674679	620	K>missing	Multiple epiphyseal dysplasia type 4 [ClinVar]	Yes	ClinVar dbSNP
RCV001223969 rs1755100270	627	T>missing	Achondrogenesis, type IB [ClinVar]	Yes	ClinVar dbSNP
RCV000665365 rs1253691463 CA361709384	641	H>R	Variant assessed as Somatic; 0.0 impact. Multiple epiphyseal dysplasia type 4 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar NCI-TCGA dbSNP gnomAD
rs1481910744 RCV000674639 RCV001855612	644	L>missing	Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 [ClinVar]	Yes	ClinVar dbSNP
RCV001236938 rs774648833	651	I>missing	Achondrogenesis, type IB [ClinVar]	Yes	ClinVar dbSNP
RCV001850976 RCV000410934 RCV000411814 RCV000412444 rs1057517474 RCV000409824	652	D>missing	Atelosteogenesis type II Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia [ClinVar]	Yes	ClinVar dbSNP
RCV000666540 rs1554095395	653	C>missing	Multiple epiphyseal dysplasia type 4 [ClinVar]	Yes	ClinVar dbSNP
RCV000224702 RCV000477884 RCV000411019 RCV002276531 VAR_018655 RCV000004313 RCV000409936 RCV001813733 RCV000055760 rs104893924 RCV000780712 CA252996 RCV001030750	653	C>S	Connective tissue disorder 3MC syndrome 2 Atelosteogenesis type II Achondrogenesis, type ib (acg1b) Sulfate transporter-related osteochondrodysplasia 3mc syndrome 2 (3mc2) Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 SLC26A2-Related Disorders Diastrophic dysplasia EDM4; no effect on sulfate transport and cell membrane localization [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
rs386833499 RCV000409521 RCV000411069 RCV000049427 RCV000411727	658	F>*	Atelosteogenesis type II Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia [ClinVar]	Yes	ClinVar dbSNP
RCV000410080 RCV001389674 RCV000410977 rs762137330 RCV000412036 RCV000411126	661	T>missing	Atelosteogenesis type II Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia [ClinVar]	Yes	ClinVar dbSNP
RCV000049428 rs386833500	662	A>missing	Diastrophic dysplasia [ClinVar]	Yes	ClinVar dbSNP
RCV000665405 RCV001175534 RCV001835070 RCV000779468 RCV001388087 CA361709574 rs1554095397	663	G>R	Sulfate transporter-related osteochondrodysplasia Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 SLC26A2-Related Disorders [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs141798540 RCV002531294 RCV000671750 CA3505527	665	H>P	Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000411563 RCV000409121 RCV000410720 RCV000410103 rs1057517513	667	L>missing	Atelosteogenesis type II Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia [ClinVar]	Yes	ClinVar dbSNP
RCV001832414 rs772515802 RCV001043459	673	D>missing	Achondrogenesis, type IB [ClinVar]	Yes	ClinVar dbSNP
CA3505535 RCV003114507 RCV000272793 RCV000303457 RCV000309144 RCV002520338 RCV000391865 rs772655429 RCV000358288	674	Y>C	Atelosteogenesis type II Sulfate transporter-related osteochondrodysplasia Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA259844 rs104893916 RCV000055761 VAR_007438 RCV000169017 RCV000023570	678	G>V	Achondrogenesis, type ib (acg1b) Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia ACG1B; reduced sulfate transport; loss of cell membrane localization [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
rs1755104737 RCV001323399	681	V>D	Achondrogenesis, type IB [ClinVar]	Yes	ClinVar dbSNP
CA361709714 RCV001007861 rs1581232671	686	C>Y	Diastrophic dysplasia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_020402 RCV000334149 RCV000363939 RCV000269354 RCV000588132 RCV000388712 RCV002277137 rs3776070 RCV000055762 CA202201 RCV000176981 RCV001513704	689	T>S	Connective tissue disorder Atelosteogenesis type II Sulfate transporter-related osteochondrodysplasia Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001255525 rs1755106202	690	V>missing	Sulfate transporter-related osteochondrodysplasia [ClinVar]	Yes	ClinVar dbSNP
rs746291695 RCV001323097	690	V>M	Achondrogenesis, type IB [ClinVar]	Yes	ClinVar dbSNP
CA3505551 RCV000324346 RCV001707611 rs34351171 RCV001271508 RCV000956326	696	N>S	Achondrogenesis, type IB [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs761932822 CA361709796 RCV000670801	699	Y>*	Multiple epiphyseal dysplasia type 4 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000049429 rs386833501	707	L>missing	Diastrophic dysplasia [ClinVar]	Yes	ClinVar dbSNP
RCV000665670 rs1554095431	708	L>missing	Multiple epiphyseal dysplasia type 4 [ClinVar]	Yes	ClinVar dbSNP
RCV000501791 RCV001778980 RCV001857164 rs1554095433	709	F>missing	Sulfate transporter-related osteochondrodysplasia Achondrogenesis, type IB [ClinVar]	Yes	ClinVar dbSNP
RCV000330490 RCV000336484 rs374692915 RCV000372485 RCV001439481 RCV000281557 RCV000376030 CA3505558	710	Y>C	Atelosteogenesis type II Sulfate transporter-related osteochondrodysplasia Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 Diastrophic dysplasia [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000004309 RCV000675095 RCV000797878 rs104893918 CA252994 VAR_007439	715	A>V	Atelosteogenesis type II Achondrogenesis, type ib (acg1b) Variant assessed as Somatic; 4.69e-05 impact. Achondrogenesis, type IB Multiple epiphyseal dysplasia type 4 AO2 and EDM4; no effect on sulfate transport and cell membrane localization [ClinVar, Ensembl, NCI-TCGA, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001271509 CA3505564 rs565149029 RCV000806427	722	S>P	Achondrogenesis, type IB [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA3505571 RCV000666821 rs747357127	740	D>K	Multiple epiphyseal dysplasia type 4 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1238936538 CA361703761	2	S>F		No	ClinGen gnomAD
rs779722346 CA3505185	5	S>N		No	ClinGen ExAC gnomAD
rs1473390687 CA361703795	7	E>G		No	ClinGen gnomAD
CA361703791 rs1390775746	7	E>K		No	ClinGen TOPMed
CA3505188 rs151076648	9	H>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs374715321 CA361703808	9	H>P		No	ClinGen ESP TOPMed
rs374715321 CA129082168	9	H>R		No	ClinGen ESP TOPMed
CA129082160 rs151076648	9	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs770366919 CA3505191	11	V>F		No	ClinGen ExAC gnomAD
CA3505192 rs763171087	11	V>G		No	ClinGen ExAC gnomAD
rs770366919 CA3505190	11	V>I	Variant assessed as Somatic; 4.628e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs766531442 CA3505193	13	P>L		No	ClinGen ExAC gnomAD
rs766531442 CA361703833	13	P>R		No	ClinGen ExAC gnomAD
rs1245396440 CA361703842	15	D>H		No	ClinGen gnomAD
rs1245396440 CA361703843	15	D>Y		No	ClinGen gnomAD
CA361703853 rs386833505	16	S>L		No	ClinGen TOPMed gnomAD
CA129082201 rs767351999	22	S>I		No	ClinGen TOPMed
rs767351999 CA361703892	22	S>N		No	ClinGen TOPMed
CA3505194 rs774777482	23	Y>H		No	ClinGen ExAC gnomAD
CA361703908 rs1247794843	24	P>L		No	ClinGen gnomAD
CA129082207 rs750742962	25	S>C		No	ClinGen Ensembl
RCV000054573 CA216028 rs387907491	27	I>M		No	ClinGen ClinVar TOPMed dbSNP
CA3505197 rs753669585	27	I>V		No	ClinGen ExAC TOPMed gnomAD
CA361703932 rs1443550023	28	H>Q		No	ClinGen gnomAD
CA361703940 rs1479232044	30	E>K		No	ClinGen gnomAD
CA129082222 rs978424390	32	Q>L		No	ClinGen TOPMed gnomAD
CA361703980 rs1171774561	34	E>D		No	ClinGen gnomAD
rs750331388 CA3505200	36	S>R		No	ClinGen ExAC gnomAD
rs1165698640 CA361704008	37	T>A		No	ClinGen gnomAD
CA3505201 rs757970578	38	D>N		No	ClinGen ExAC TOPMed gnomAD
rs376023150 CA3505204	39	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs746468036 CA3505203	39	F>L		No	ClinGen ExAC TOPMed gnomAD
CA3505205 rs780672012	40	K>R		No	ClinGen ExAC gnomAD
CA3505206 rs748570555	41	Q>L		No	ClinGen ExAC gnomAD
CA3505207 rs770030403	42	F>S		No	ClinGen ExAC gnomAD
rs1250888818 CA361704077	43	E>V		No	ClinGen gnomAD
CA361704086 rs1345804076	44	T>A		No	ClinGen gnomAD
CA3505208 rs773892702	45	N>S		No	ClinGen ExAC gnomAD
CA361704131 rs1194896006	47	Q>H		No	ClinGen TOPMed gnomAD
rs1190567620 CA361704182	52	H>R		No	ClinGen gnomAD
rs771193050 CA3505210	52	H>Y		No	ClinGen ExAC gnomAD
CA3505211 rs774585651	53	R>K		No	ClinGen ExAC gnomAD
CA129082259 rs766615254	53	R>S		No	ClinGen ExAC gnomAD
rs767810188 CA3505214	56	I>L		No	ClinGen ExAC TOPMed gnomAD
rs1433995701 CA361704221	56	I>T		No	ClinGen TOPMed gnomAD
CA3505215 rs369318758	58	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs199893058 CA3505216	58	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1755019690 RCV001090374	63	D>G		No	ClinVar dbSNP
CA3505217 rs755049614	65	N>D		No	ClinGen ExAC TOPMed gnomAD
rs200981220 CA3505218	66	F>L		No	ClinGen ExAC gnomAD
CA3505219 rs766241120	67	K>*		No	ClinGen ExAC gnomAD
rs751114545 CA3505220	68	E>K		No	ClinGen ExAC gnomAD
CA129082299 rs868242956	70	V>A		No	ClinGen gnomAD
rs1217971274 CA361704377	70	V>L		No	ClinGen TOPMed gnomAD
rs747452414 CA129082300	71	I>T		No	ClinGen Ensembl
rs1479713112 CA361704394	72	K>*		No	ClinGen TOPMed
rs756565445 CA3505224	78	C>W		No	ClinGen ExAC
CA361704596 rs1204157806	88	M>I		No	ClinGen TOPMed
rs778265659 CA3505225	88	M>T		No	ClinGen ExAC TOPMed gnomAD
CA361704607 rs1200428645	89	I>S		No	ClinGen gnomAD
rs749607301 CA361704628	91	G>D		No	ClinGen ExAC TOPMed gnomAD
CA3505226 rs749607301	91	G>V		No	ClinGen ExAC TOPMed gnomAD
rs779521717 CA3505228	96	L>F		No	ClinGen ExAC gnomAD
CA361704674 rs1581230719	97	Q>R		No	ClinGen Ensembl
CA3505230 rs772015926	98	W>*		No	ClinGen ExAC gnomAD
rs753193118 CA3505229	98	W>R		No	ClinGen ExAC TOPMed gnomAD
CA361704689 rs1288028600	99	L>P		No	ClinGen gnomAD
rs760795343 CA361704694	100	P>L		No	ClinGen ExAC TOPMed gnomAD
CA3505232 rs760795343	100	P>R		No	ClinGen ExAC TOPMed gnomAD
CA3505231 rs775850228	100	P>S		No	ClinGen ExAC gnomAD
CA361704711 rs1370328907	103	D>N		No	ClinGen gnomAD
CA361704731 rs1315598449	105	K>N		No	ClinGen gnomAD
TCGA novel	105	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV001200175 rs1755022481	106	K>E		No	ClinVar dbSNP
CA3505236 rs762699479	113	M>I		No	ClinGen ExAC gnomAD
CA361704799 rs766328991	115	G>A		No	ClinGen ExAC TOPMed gnomAD
CA3505237 rs766328991	115	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1488632635 CA361704828	120	I>L		No	ClinGen gnomAD
CA3505238 rs751431865	124	P>T		No	ClinGen ExAC gnomAD
rs1219390670 CA361704858	125	Q>*		No	ClinGen TOPMed
CA129082385 rs875989951	125	Q>P		No	ClinGen TOPMed gnomAD
rs1178654243 CA361704865 COSM1664197	126	S>P	kidney [Cosmic]	No	ClinGen cosmic curated gnomAD
CA3505239 rs759123374	127	I>T		No	ClinGen ExAC gnomAD
CA361704872 rs1350762980	127	I>V		No	ClinGen gnomAD
CA3505240 rs116658823	128	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs752449028 CA3505241	133	A>P		No	ClinGen ExAC gnomAD
TCGA novel	136	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361704922 rs1277394379	136	E>K		No	ClinGen gnomAD
rs755837989 CA3505242	137	P>S		No	ClinGen ExAC gnomAD
rs1172010266 CA361704946	139	Y>C		No	ClinGen TOPMed
CA361704952 rs1163055267	140	G>D		No	ClinGen gnomAD
rs777500286 CA3505243	141	L>P		No	ClinGen ExAC gnomAD
CA3505246 rs779516281	143	T>K		No	ClinGen ExAC gnomAD
CA361704967 rs1333398085	143	T>P		No	ClinGen gnomAD
rs1561819566 CA361704975	144	S>Y		No	ClinGen Ensembl
rs769859976	146	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769859976	147	A>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA3505248 rs201012489	147	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3505249 rs772253189	150	I>V		No	ClinGen ExAC
rs780011803 CA3505250	154	L>F		No	ClinGen ExAC gnomAD
CA361705051 rs1165606456	155	G>D		No	ClinGen Ensembl
rs1581230819 CA361705055	156	T>A		No	ClinGen Ensembl
rs747048231 CA129082524	156	T>I		No	ClinGen ExAC TOPMed gnomAD
rs747048231 CA3505251	156	T>N		No	ClinGen ExAC TOPMed gnomAD
CA3505253 rs776787689	157	S>P		No	ClinGen ExAC gnomAD
rs762787339 CA3505254	158	R>C		No	ClinGen ExAC TOPMed gnomAD
rs143658243 CA361705065	158	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs767426216 CA3505258	160	I>V		No	ClinGen ExAC TOPMed gnomAD
CA3505261 rs760221585	162	V>A		No	ClinGen ExAC gnomAD
CA3505260 rs752152305	162	V>L		No	ClinGen ExAC gnomAD
CA3505262 rs763859822	163	G>D		No	ClinGen ExAC gnomAD
CA3505263 rs377008976	164	I>V		No	ClinGen ESP ExAC gnomAD
rs1461986353 CA361705115	167	V>I		No	ClinGen TOPMed gnomAD
rs1461986353 CA361705117	167	V>L		No	ClinGen TOPMed gnomAD
CA361705125 rs1381904339	168	L>P		No	ClinGen gnomAD
rs1320154597 CA361705133	169	C>*		No	ClinGen TOPMed
CA3505266 rs370282677	171	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs765507342 CA3505265	171	M>T		No	ClinGen ExAC TOPMed gnomAD
CA3505267 rs758834024	172	I>T		No	ClinGen ExAC TOPMed gnomAD
rs755031722 CA3505269	179	E>K		No	ClinGen ExAC gnomAD
rs1405775233 CA361705213	182	K>R		No	ClinGen TOPMed
CA361705219 rs1332689655	183	A>P		No	ClinGen TOPMed
rs781435231 CA3505270	184	G>V		No	ClinGen ExAC gnomAD
rs553523153 CA3505272	185	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
CA3505274 rs745606637	186	D>H		No	ClinGen ExAC gnomAD
CA3505275 rs146895291	187	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1184686405 CA361705244	187	N>Y		No	ClinGen gnomAD
CA3505276 rs775447660	189	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1428011747 CA361705257	189	H>Y		No	ClinGen gnomAD
CA3505277 rs760309344	190	S>C		No	ClinGen ExAC TOPMed gnomAD
CA361705263 rs760309344	190	S>G		No	ClinGen ExAC TOPMed gnomAD
rs1433374524 CA361705264	190	S>N		No	ClinGen gnomAD
rs904089013 CA129082669	191	A>S		No	ClinGen TOPMed
rs763693887 COSM285053 CA3505279	191	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA361705280 rs1238535863	193	S>P		No	ClinGen TOPMed
rs1402162343 CA361705287	194	L>*		No	ClinGen gnomAD
rs1271577788 CA361705293 CA361705294	195	G>R		No	ClinGen TOPMed gnomAD
CA3505280 rs578187253	199	N>D		No	ClinGen 1000Genomes ExAC gnomAD
rs761571108 CA3505281	200	G>V		No	ClinGen ExAC gnomAD
CA361705332 rs1350029034	201	S>G		No	ClinGen gnomAD
rs750787549 CA3505283	206	H>Q		No	ClinGen ExAC gnomAD
CA3505282 rs764878581	206	H>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	207	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361705379 rs1488498989	208	S>P		No	ClinGen gnomAD
CA3505284 rs372226382	209	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA361705397 rs867540010	210	R>S		No	ClinGen gnomAD
rs766847788 CA129082731	211	I>L		No	ClinGen ExAC TOPMed gnomAD
rs766847788 CA3505285	211	I>V		No	ClinGen ExAC TOPMed gnomAD
CA129082733 rs545719885	212	C>F		No	ClinGen 1000Genomes TOPMed gnomAD
CA361705405 rs1302314516	212	C>S		No	ClinGen gnomAD
CA3505286 rs752034415	214	K>E		No	ClinGen ExAC gnomAD
rs377095681 CA3505287	217	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA129082739 rs991566867	220	M>V		No	ClinGen TOPMed
rs563310012 CA129082741	221	V>I		No	ClinGen Ensembl
rs748164269 CA3505289	223	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
COSM1542726 rs1402826221 CA361705486	223	S>R	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1561819975 CA361705494	225	V>I		No	ClinGen Ensembl
rs1554095170 CA3505290	231	V>I		No	ClinGen Ensembl
rs1581230984 CA361705538	232	Y>D		No	ClinGen Ensembl
rs774842972	232	Y>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA129083667 rs908660430	236	M>T		No	ClinGen TOPMed gnomAD
rs982879554 CA129083662	236	M>V		No	ClinGen TOPMed gnomAD
rs113043757 CA129083697	239	F>L		No	ClinGen Ensembl
CA361706121 rs1213183312	241	V>M		No	ClinGen gnomAD
rs1409549241 CA361706140	243	F>L		No	ClinGen TOPMed
CA361706141 rs1175035390	244	V>I		No	ClinGen TOPMed
rs1197895795 CA361706155	246	V>L		No	ClinGen TOPMed gnomAD
CA3505317 rs781230263	248	L>F		No	ClinGen ExAC gnomAD
CA361706177 rs1224220784	250	D>H		No	ClinGen TOPMed
CA361706186 rs1232744908	251	A>S		No	ClinGen gnomAD
rs1489803920 CA361706194	252	L>W		No	ClinGen TOPMed
rs1216415565 CA361706200	253	L>P		No	ClinGen TOPMed
CA361706205 rs1190457980	254	S>N		No	ClinGen gnomAD
rs1581231608 CA361706208	254	S>R		No	ClinGen Ensembl
rs769319202 CA361706263	259	G>D		No	ClinGen ExAC TOPMed gnomAD
CA3505320 rs772809990	260	A>V		No	ClinGen ExAC
CA361706301 rs1442719336	263	T>I		No	ClinGen gnomAD
CA361706300 rs1442719336	263	T>S		No	ClinGen gnomAD
CA129083756 rs754511601	264	I>V		No	ClinGen Ensembl
CA361706317 rs199789515	266	T>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	270	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1043371043 CA129083779	272	L>F		No	ClinGen Ensembl
CA361706358 rs1389031689	272	L>R		No	ClinGen TOPMed
CA3505329 rs760707226	275	L>F		No	ClinGen ExAC TOPMed gnomAD
rs753803965 CA3505331	276	N>K		No	ClinGen ExAC gnomAD
CA3505330 rs764228342	276	N>S		No	ClinGen ExAC gnomAD
CA3505332 rs374254724	278	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA3505333 rs114569184	279	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1429315522 CA361706401	280	T>I		No	ClinGen TOPMed
CA129083824 rs984263969	281	N>S		No	ClinGen TOPMed gnomAD
rs1186947774 CA361706412	282	G>V		No	ClinGen TOPMed
CA361706413 rs1255823894	283	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	284	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781323596 CA3505336	284	G>D		No	ClinGen ExAC gnomAD
CA3505337 rs140041300	285	S>*		No	ClinGen ESP ExAC gnomAD
CA3505339 rs777347544	286	L>F		No	ClinGen ExAC gnomAD
CA361706433 rs1435230462	286	L>H		No	ClinGen TOPMed gnomAD
rs770596928 CA361706435	287	I>F		No	ClinGen ExAC gnomAD
rs770596928 CA3505341	287	I>L		No	ClinGen ExAC gnomAD
CA129083851 rs773941075	287	I>N		No	ClinGen ExAC TOPMed gnomAD
CA3505342 rs773941075	287	I>T		No	ClinGen ExAC TOPMed gnomAD
rs770596928 CA361706434	287	I>V		No	ClinGen ExAC gnomAD
CA3505343 rs759942385	288	T>A		No	ClinGen ExAC TOPMed gnomAD
CA361706445 rs1328378155	289	T>A		No	ClinGen TOPMed gnomAD
rs1225377370 CA361706446	289	T>N		No	ClinGen gnomAD
CA3505344 rs772394901	290	W>*		No	ClinGen ExAC gnomAD
rs1329630708 CA361706463	291	I>M		No	ClinGen TOPMed
CA361706467 rs761259326	292	H>L		No	ClinGen ExAC TOPMed gnomAD
CA3505347 rs761259326	292	H>R		No	ClinGen ExAC TOPMed gnomAD
rs775926426 CA3505346	292	H>Y		No	ClinGen ExAC gnomAD
rs111931838 CA129083881	293	V>I		No	ClinGen Ensembl
CA3505349 rs115111282	298	H>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA129083889 rs1025069199	298	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs199635266 CA129083906	299	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs765607562 CA361706523	301	N>D		No	ClinGen ExAC TOPMed gnomAD
rs765607562 CA3505351	301	N>H		No	ClinGen ExAC TOPMed gnomAD
CA361706528 rs754890390	301	N>K		No	ClinGen ExAC TOPMed gnomAD
CA3505352 rs750646790	301	N>S		No	ClinGen ExAC TOPMed
rs1396120018 CA361706541	303	C>*		No	ClinGen Ensembl
CA361706553 rs1245921907	305	L>F		No	ClinGen TOPMed
rs1175447922 CA361706559	306	I>F		No	ClinGen gnomAD
rs1187860041 CA361706561	306	I>T		No	ClinGen TOPMed
rs1393134111 CA361706573	308	S>N		No	ClinGen gnomAD
rs767409327 COSM1435113 RCV000756640 CA3505354 CA361706576	308	S>R	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD ClinVar dbSNP
rs1051469969 CA129083951	309	L>F		No	ClinGen TOPMed gnomAD
CA361706608 rs1205728641	313	L>F		No	ClinGen TOPMed
rs777527899 CA3505357	314	V>I		No	ClinGen ExAC gnomAD
CA3505358 rs550652441	315	L>I		No	ClinGen 1000Genomes ExAC gnomAD
CA3505359 rs569436962	315	L>P		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	316	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1301908588 CA361706627	317	P>L		No	ClinGen gnomAD
CA129083988 rs369899874	317	P>T		No	ClinGen ESP
rs1343477650 CA361706633	318	T>N		No	ClinGen TOPMed gnomAD
CA3505360 rs536416205	319	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361706674 rs1240257956	324	H>Y		No	ClinGen gnomAD
CA129083993 rs1053664339	327	S>F		No	ClinGen TOPMed
CA3505361 rs373056487	328	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs773246028 COSM205962 CA3505364	332	P>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs762028579 CA3505366	333	I>T		No	ClinGen ExAC TOPMed gnomAD
CA361706946 rs765407252	335	I>F		No	ClinGen ExAC gnomAD
rs1245188795 CA361706948	335	I>T		No	ClinGen gnomAD
CA3505367 RCV000733431 rs765407252	335	I>V		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA3505369 rs773629114	337	L>F		No	ClinGen ExAC
rs1388105489 CA361706962	337	L>P		No	ClinGen TOPMed
CA3505372 rs766441629	339	V>A		No	ClinGen ExAC gnomAD
CA3505370 rs763284551	339	V>F		No	ClinGen ExAC gnomAD
CA3505371 rs766441629	339	V>G		No	ClinGen ExAC gnomAD
rs763284551 CA361706971	339	V>I		No	ClinGen ExAC gnomAD
rs1561821834 CA361706977	340	V>A		No	ClinGen Ensembl
rs753686519 CA3505375	341	V>A		No	ClinGen ExAC
CA3505374 rs764138177	341	V>L		No	ClinGen ExAC
rs778380835 CA3505377	342	A>P		No	ClinGen ExAC gnomAD
rs1167797605 CA361706987	342	A>V		No	ClinGen TOPMed
CA361706990 rs1445018499	343	A>G		No	ClinGen TOPMed
CA129084067 rs775548374	343	A>T		No	ClinGen Ensembl
rs1248592024 CA361706998	344	T>I		No	ClinGen TOPMed gnomAD
CA361707033 rs1561821894	350	G>R		No	ClinGen Ensembl
CA361707043 rs1255503996	351	K>R		No	ClinGen TOPMed
rs1392464335 CA361707056	353	H>R		No	ClinGen TOPMed gnomAD
CA3505381 rs145359896	356	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs768874273 CA3505382	358	S>Y		No	ClinGen ExAC gnomAD
CA361707111 rs1335035062	361	A>V		No	ClinGen gnomAD
CA361707119 rs1215069127	362	G>V		No	ClinGen gnomAD
CA361707121 rs1488150426	363	H>Y		No	ClinGen gnomAD
rs1360579129 CA361707133	364	I>T		No	ClinGen TOPMed
rs1317835953 CA361707137	365	P>S		No	ClinGen TOPMed
CA129084136 rs200609339	366	T>P		No	ClinGen gnomAD
CA129084144 COSM247378 rs868052713	370	P>S	prostate [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA361707169 rs868052713	370	P>T		No	ClinGen TOPMed gnomAD
CA361707178 rs1418899122	371	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs748656046 CA3505384	371	P>S		No	ClinGen ExAC gnomAD
rs770371218 CA3505385	372	K>R		No	ClinGen ExAC TOPMed gnomAD
CA3505386 rs773426707	373	V>I		No	ClinGen ExAC gnomAD
CA3505387 rs763082940	374	P>S		No	ClinGen ExAC TOPMed gnomAD
rs771204785 CA3505388	376	W>C		No	ClinGen ExAC gnomAD
rs774412132 CA3505389	378	L>R		No	ClinGen ExAC TOPMed gnomAD
CA3505391 rs763790308	379	I>L		No	ClinGen ExAC TOPMed gnomAD
CA361707249 rs1355755955	382	V>A		No	ClinGen TOPMed gnomAD
CA361707250 rs1234735248	383	A>T		No	ClinGen gnomAD
CA3505392 rs376037126	384	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs386833493 CA3505393	386	A>G		No	ClinGen ExAC gnomAD
rs921062664 CA129084189	386	A>T		No	ClinGen gnomAD
CA3505394 rs147953424	387	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA361707277 rs1479599084	387	I>M		No	ClinGen TOPMed gnomAD
CA361707273 rs147953424	387	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs749958812 CA3505395	389	I>V		No	ClinGen ExAC gnomAD
CA3505397 rs759803722	391	I>V		No	ClinGen ExAC gnomAD
CA3505398 rs751170105	392	I>T		No	ClinGen ExAC gnomAD
rs370650784 CA3505399	395	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA361707327 rs1429224715	396	I>V		No	ClinGen gnomAD
CA3505401 rs781427437	397	T>I		No	ClinGen ExAC gnomAD
rs374310335 CA3505402	398	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs374310335 CA361707339	398	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA361707350 rs1313932178	400	L>V		No	ClinGen gnomAD
CA3505403 rs770451200	403	M>K		No	ClinGen ExAC gnomAD
CA3505404 rs760012686 CA361707383	404	F>L		No	ClinGen ExAC TOPMed gnomAD
CA361707394 rs1561822203	406	K>R		No	ClinGen Ensembl
CA3505406 rs770881500	408	H>R		No	ClinGen ExAC gnomAD
CA361707423 rs1297067317	410	Y>C		No	ClinGen gnomAD
rs1292388651 CA361707428	411	T>A		No	ClinGen TOPMed
CA361707443 rs1486535887	413	K>I		No	ClinGen TOPMed gnomAD
CA361707442 rs1486535887	413	K>R		No	ClinGen TOPMed gnomAD
rs1208395813 CA361707463	416	Q>P		No	ClinGen TOPMed gnomAD
rs1208395813 CA361707464	416	Q>R		No	ClinGen TOPMed gnomAD
TCGA novel	417	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3505411 rs761548758	418	M>I		No	ClinGen ExAC TOPMed gnomAD
CA361707479 rs1287351968	418	M>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA3505412 rs765209461	421	I>T		No	ClinGen ExAC gnomAD
CA361707505 rs1449461806	422	G>D		No	ClinGen gnomAD
rs750331459 CA3505413	422	G>S		No	ClinGen ExAC gnomAD
CA361707517 rs1378960678	424	C>R		No	ClinGen Ensembl
rs1320586992 CA361707532	426	I>V		No	ClinGen TOPMed gnomAD
CA361707543 rs1561822324	427	I>M		No	ClinGen Ensembl
rs1174821568	427	I>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA3505414 rs762593639	427	I>N		No	ClinGen ExAC gnomAD
CA361707555 rs1321268187	429	S>F		No	ClinGen TOPMed
rs115250230 CA3505416	430	F>L		No	ClinGen 1000Genomes ExAC gnomAD
rs115250230 CA361707557	430	F>V		No	ClinGen 1000Genomes ExAC gnomAD
CA3505417 rs751027078	431	F>Y		No	ClinGen ExAC gnomAD
CA3505418 rs116443969	432	H>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3505419 rs367808573	434	F>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1160194922 CA361707599	436	T>A		No	ClinGen TOPMed
CA3505420 rs753130663	438	A>S		No	ClinGen ExAC gnomAD
rs1433631774 CA361707622	439	A>V		No	ClinGen gnomAD
CA361707625 rs1349920176	440	L>V		No	ClinGen gnomAD
CA361707640 rs1293896869	442	K>N		No	ClinGen gnomAD
CA3505421 rs756522316	442	K>T		No	ClinGen ExAC TOPMed gnomAD
CA129084295 rs116478722	445	V>I		No	ClinGen 1000Genomes
CA361707662 rs1326271684	446	K>*		No	ClinGen TOPMed gnomAD
CA3505423 rs749806759	448	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1240507935 CA361707681	449	T>A		No	ClinGen gnomAD
CA3505425 rs778871884	450	G>D		No	ClinGen ExAC gnomAD
CA361707687 rs1464513147	450	G>R		No	ClinGen gnomAD
rs1453093292 CA361707715	454	Q>E		No	ClinGen gnomAD
rs575414030 CA3505426	457	G>A		No	ClinGen 1000Genomes ExAC gnomAD
rs371729146 CA129084319	459	V>A		No	ClinGen ESP
rs542443884 CA3505427	460	T>S		No	ClinGen 1000Genomes ExAC gnomAD
CA3505428 rs775667788	461	A>S		No	ClinGen ExAC gnomAD
rs1160857063 CA361707771	464	L>F		No	ClinGen TOPMed gnomAD
rs1325960716 CA361707786	466	L>W		No	ClinGen gnomAD
CA3505429 rs747980133	467	V>I		No	ClinGen ExAC TOPMed gnomAD
CA361707812 rs1203147428	471	I>L		No	ClinGen gnomAD
CA361707828 rs1268772271	473	P>R		No	ClinGen gnomAD
rs766277298 CA3505434	474	L>F		No	ClinGen ExAC gnomAD
rs762815055 CA3505433	474	L>S		No	ClinGen ExAC gnomAD
CA3505436 rs145765282	476	Y>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs767323360 CA3505437	477	S>C		No	ClinGen ExAC gnomAD
TCGA novel	477	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361707861 rs1275107430	479	Q>*		No	ClinGen gnomAD
rs756610256 CA3505440	480	K>R		No	ClinGen ExAC gnomAD
rs1233907029 CA361707903	485	V>A		No	ClinGen TOPMed gnomAD
rs764538490 CA3505441	486	I>V		No	ClinGen ExAC gnomAD
CA3505442 rs148181478	487	T>I		No	ClinGen ESP ExAC gnomAD
rs757709677 CA243094 RCV000176983	488	I>V		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs571125699 CA3505443	492	R>Q		No	ClinGen ExAC gnomAD
rs1403035327 CA361707947	493	G>E		No	ClinGen gnomAD
TCGA novel	493	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3505445 rs564881130	494	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs747221616 CA3505446	495	L>F		No	ClinGen ExAC TOPMed
CA3505447 rs768811618	496	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs150314895 CA3505448	496	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA3505449 rs749073619	500	D>V		No	ClinGen ExAC gnomAD
CA3505450 rs770791618	501	L>V		No	ClinGen ExAC gnomAD
CA361708009 rs1361552259	503	K>T		No	ClinGen Ensembl
rs774319175 CA3505451	504	M>V		No	ClinGen ExAC gnomAD
CA129084422 rs1044949778	505	W>*		No	ClinGen TOPMed
rs57814887 CA3505453	506	S>N		No	ClinGen 1000Genomes ExAC gnomAD
CA3505454 rs775340106	511	D>E		No	ClinGen ExAC
TCGA novel	513	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752005332 CA3505455	514	I>T		No	ClinGen ExAC TOPMed gnomAD
CA3505456 rs754184929	515	W>*		No	ClinGen ExAC gnomAD
CA129084446 rs906468026	518	T>I		No	ClinGen TOPMed
CA3505458 rs115232988	519	M>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA129084455 rs939349976	519	M>V		No	ClinGen TOPMed gnomAD
CA361708136 rs1561822752	522	S>P		No	ClinGen Ensembl
rs758533023 CA3505460	525	L>V		No	ClinGen ExAC gnomAD
rs1162088298 CA361708161	526	S>N		No	ClinGen gnomAD
CA361708184 rs1218224037	529	I>M		No	ClinGen TOPMed
rs780124320 CA3505461	530	G>A		No	ClinGen ExAC gnomAD
CA3505462 rs747027428	531	L>V		No	ClinGen ExAC TOPMed gnomAD
CA361708196 rs1369717320	532	L>F		No	ClinGen TOPMed gnomAD
rs1225888084 CA361708198	532	L>R		No	ClinGen TOPMed
CA361708195 rs1369717320	532	L>V		No	ClinGen TOPMed gnomAD
COSM4135451 CA3505463 rs755227925	534	G>R	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA361708239 rs1448915287 COSM3409998	539	I>V	Variant assessed as Somatic; impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs749081581 CA3505466	540	F>L		No	ClinGen ExAC gnomAD
CA361708273 rs1332480557	544	L>I		No	ClinGen TOPMed
rs745802790 CA361708282	545	R>L		No	ClinGen ExAC TOPMed gnomAD
rs772074266 CA3505470	546	T>A		No	ClinGen ExAC gnomAD
rs775143472 CA3505471	547	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA129084531 rs548496494	549	P>L		No	ClinGen 1000Genomes
rs1561822940 CA361708311	550	K>T		No	ClinGen Ensembl
CA361708324 rs1184727376	552	S>T		No	ClinGen TOPMed
CA3505474 rs370057170	557	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs762152722 CA3505475	560	S>C		No	ClinGen ExAC gnomAD
CA3505478 rs750697624	565	S>C		No	ClinGen ExAC TOPMed gnomAD
rs750697624 CA3505477	565	S>Y		No	ClinGen ExAC TOPMed gnomAD
CA129084580 rs979024066	567	S>C		No	ClinGen TOPMed gnomAD
CA361708544 rs1276329470	570	K>E		No	ClinGen TOPMed
CA361708550 rs1328281729	570	K>R		No	ClinGen gnomAD
rs30832 CA361708593	574	I>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs30832 CA361708595	574	I>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1561823072 CA361708611	575	K>R		No	ClinGen Ensembl
rs1349185450 CA361708625	576	P>R		No	ClinGen gnomAD
CA129084583 rs987116484	578	I>F		No	ClinGen TOPMed gnomAD
CA3505482 rs375785597	579	K>E		No	ClinGen ESP ExAC gnomAD
CA129084587 rs934543109	580	I>T		No	ClinGen TOPMed
rs368864462 CA129084606	582	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA361708699 rs1247388334	584	V>I		No	ClinGen TOPMed gnomAD
CA361708701 rs1247388334	584	V>L		No	ClinGen TOPMed gnomAD
rs916874362 CA129084609	585	A>S		No	ClinGen Ensembl
CA129084613 rs1044122373	589	Y>H		No	ClinGen Ensembl
rs905644652 CA129084634	593	E>K		No	ClinGen Ensembl
CA361708779 rs1159380577	595	F>S		No	ClinGen gnomAD
rs776206829 CA129084636	596	K>N		No	ClinGen ExAC gnomAD
TCGA novel	596	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	596	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3505492 rs761543121	599	L>F		No	ClinGen ExAC gnomAD
CA361708811 rs1319939149	599	L>I		No	ClinGen gnomAD
CA361708836 rs1299733113	600	Y>*		No	ClinGen gnomAD
rs773660491 CA3505493	600	Y>C		No	ClinGen ExAC TOPMed gnomAD
RCV000054571 rs387907492 CA216022	600	Y>H		No	ClinGen ClinVar Ensembl dbSNP
rs763259050 CA3505494	601	K>E		No	ClinGen ExAC gnomAD
TCGA novel	602	Q>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3505496 rs752026412	604	V>A		No	ClinGen ExAC gnomAD
rs1412248637 CA361708885	604	V>F		No	ClinGen TOPMed
rs1330735657 CA361708902	605	N>S		No	ClinGen gnomAD
CA361708914 rs1468912886	606	P>L		No	ClinGen gnomAD
CA3505499 rs767618201	606	P>S		No	ClinGen ExAC gnomAD
CA3505500 rs756361392	607	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1057518327 RCV000413986	611	V>missing		No	ClinVar dbSNP
rs750264598 CA3505502	611	V>A		No	ClinGen ExAC TOPMed gnomAD
CA129084669 rs764181468 CA3505501	611	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1202533929 CA361709004	613	W>S		No	ClinGen TOPMed
rs115620919 CA3505504	615	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361709041 rs1365809849	615	K>T		No	ClinGen gnomAD
CA3505505 rs780207230	616	A>V		No	ClinGen ExAC gnomAD
CA3505507 rs752286696	619	R>K		No	ClinGen ExAC gnomAD
CA361709108 rs1223696506	620	K>T		No	ClinGen TOPMed
rs747574186 CA3505509	621	I>T		No	ClinGen ExAC gnomAD
rs183475628 CA3505508	621	I>V		No	ClinGen 1000Genomes ExAC
rs1319911776 CA361709131	622	K>*		No	ClinGen TOPMed
rs1488740412 CA361709135	622	K>R		No	ClinGen TOPMed gnomAD
rs1224491689 CA361709208	627	T>S		No	ClinGen gnomAD
rs769511611 CA3505511	628	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1352009645 CA361709216	628	L>P		No	ClinGen gnomAD
rs769511611 CA3505510	628	L>V		No	ClinGen ExAC TOPMed gnomAD
rs749689580 CA3505512	630	G>*		No	ClinGen ExAC gnomAD
rs373634748 CA361709273	633	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs373634748 CA3505513	633	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1334933270 CA361709278	633	D>V		No	ClinGen gnomAD
CA361709286 rs1581232513	634	E>K		No	ClinGen Ensembl
rs757934013 CA129084710	635	M>I		No	ClinGen TOPMed gnomAD
CA129084715 rs981049286	636	S>L		No	ClinGen TOPMed gnomAD
rs760046756 CA3505515	637	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA361709339 rs1350258808	638	Q>*		No	ClinGen TOPMed
CA129084726 rs1028391572	643	P>S		No	ClinGen TOPMed
CA361709478 rs1418781486	648	T>I		No	ClinGen gnomAD
CA361709477 rs1348690499	648	T>S		No	ClinGen TOPMed
rs764424605 CA3505519	649	I>M		No	ClinGen ExAC gnomAD
rs146042098 CA3505518	649	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs754107971 CA3505521	651	I>T		No	ClinGen ExAC gnomAD
CA361709508 rs1179580843	653	C>Y	Achondrogenesis, type ib (acg1b) [Ensembl]	No	ClinGen TOPMed
rs751334225 CA3505523	656	I>V		No	ClinGen ExAC gnomAD
rs754976159 CA3505524	660	D>G		No	ClinGen ExAC TOPMed gnomAD
rs887084389 CA129084776	662	A>G		No	ClinGen TOPMed gnomAD
CA361709573 rs887084389	662	A>V		No	ClinGen TOPMed gnomAD
rs780945972 CA3505526	664	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1276614158 CA361709584	664	I>T		No	ClinGen gnomAD
RCV000054572 rs387907490 CA216025	666	T>A		No	ClinGen ClinVar dbSNP gnomAD
CA361709594 rs387907490	666	T>P		No	ClinGen gnomAD
CA3505530 rs574817339	669	E>V		No	ClinGen 1000Genomes ExAC gnomAD
CA3505531 rs376837549 COSM1064230	671	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA129084797 rs1038419867	671	R>H		No	ClinGen TOPMed gnomAD
CA3505534 rs774700553	673	D>A		No	ClinGen ExAC TOPMed gnomAD
RCV000454781 CA16609725 rs774700553	673	D>G		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1226810242 CA361709635	673	D>N		No	ClinGen TOPMed
CA3505533 rs774700553	673	D>V		No	ClinGen ExAC TOPMed gnomAD
CA3505536 rs775838389	676	A>T		No	ClinGen ExAC gnomAD
CA3505537 rs760849293	677	I>V		No	ClinGen ExAC gnomAD
CA3505538 rs764256352	678	G>R		No	ClinGen ExAC TOPMed gnomAD
CA3505540 rs765518011	680	Q>L		No	ClinGen ExAC gnomAD
CA3505541 rs751425859	682	L>V		No	ClinGen ExAC gnomAD
CA3505543 rs767534399	684	A>P		No	ClinGen ExAC gnomAD
rs752568963 CA3505544	684	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1561823766 CA361709707	685	Q>L		No	ClinGen Ensembl
TCGA novel	686	C>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1375777199 CA361709719	687	N>H		No	ClinGen TOPMed gnomAD
CA361709723 rs1194723014	687	N>S		No	ClinGen TOPMed gnomAD
CA3505546 rs777274719	688	P>A		No	ClinGen ExAC TOPMed gnomAD
rs777274719 CA3505547	688	P>S		No	ClinGen ExAC TOPMed gnomAD
CA3505549 rs3776070	689	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs746291695 CA3505550	690	V>L		No	ClinGen ExAC TOPMed gnomAD
CA3505553 rs780668685	696	N>K		No	ClinGen ExAC TOPMed gnomAD
CA3505554 rs114665866	697	G>R	Variant assessed as Somatic; 4.657e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA129084880 rs371461728	698	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1363014467 CA361709783	698	E>K		No	ClinGen gnomAD
CA361709790 rs1303977104	699	Y>N		No	ClinGen gnomAD
CA361709808 rs1561823931	701	K>*		No	ClinGen Ensembl
rs1300885987 CA361709810	701	K>R		No	ClinGen gnomAD
CA361709842 rs1205574599	705	E>V		No	ClinGen gnomAD
rs1317713075 CA361709855	707	L>F		No	ClinGen gnomAD
CA361709863 rs1266306258	708	L>H		No	ClinGen TOPMed gnomAD
TCGA novel	708	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1266306258 CA361709864	708	L>P		No	ClinGen TOPMed gnomAD
CA361709866 rs1300954171	709	F>I		No	ClinGen TOPMed
CA129084901 rs980557345	711	S>R		No	ClinGen TOPMed gnomAD
rs56803131 CA129084905	713	Y>*		No	ClinGen Ensembl
rs1190941806 CA361709903	714	E>K		No	ClinGen gnomAD
CA3505559 rs759438521	715	A>P	Achondrogenesis, type ib (acg1b) [Ensembl]	No	ClinGen ExAC gnomAD
rs759438521 CA361709909	715	A>T	Achondrogenesis, type ib (acg1b) Variant assessed as Somatic; impact. [Ensembl, NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3505561 rs760613033	716	M>T		No	ClinGen ExAC TOPMed gnomAD
rs752482028 CA3505560	716	M>V		No	ClinGen ExAC TOPMed gnomAD
CA361709942 rs1304258521	720	E>A		No	ClinGen TOPMed
CA3505562 rs763981421	720	E>K		No	ClinGen ExAC gnomAD
rs750039313 CA3505566	728	V>A		No	ClinGen ExAC gnomAD
rs778577122 CA3505565	728	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1037285979 CA129084925	730	V>I		No	ClinGen gnomAD
CA3505568 rs780285712	732	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1233927699 CA361710029	733	G>D		No	ClinGen gnomAD
TCGA novel	735	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs982623180 CA129084928	735	S>R		No	ClinGen TOPMed
CA361710059 rs1388300927	738	S>G		No	ClinGen TOPMed
rs1554095446 CA3505569	738	S>N		No	ClinGen Ensembl

4 associated diseases with P50443

[MIM: 222600]: Diastrophic dysplasia (DTD)

An autosomal recessive disease characterized by osteochondrodysplasia with clinical features including dwarfism, spinal deformation, and specific joint abnormalities. {ECO:0000269|PubMed:10466420}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 600972]: Achondrogenesis 1B (ACG1B)

A form of achondrogenesis type 1, a lethal form of chondrodysplasia characterized by deficient ossification in the lumbar vertebrae and absent ossification in the sacral, pubic and ischial bones and clinically by stillbirth or early death. In addition to severe micromelia, there is a disproportionately large cranium due to marked edema of soft tissues. ACG1B is an autosomal recessive disease. {ECO:0000269|PubMed:8528239}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 256050]: Atelosteogenesis 2 (AO2)

A perinatal dysplasia characterized by shortening of the limbs, a dysmorphic syndrome and radiographic skeletal features. Patients are stillborn or die soon after birth. {ECO:0000269|PubMed:8571951}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 226900]: Multiple epiphyseal dysplasia 4 (EDM4)

A generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. Radiological examination of the skeleton shows delayed, irregular mineralization of the epiphyseal ossification centers and of the centers of the carpal and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized into the more severe Fairbank and the milder Ribbing types. The Fairbank type is characterized by shortness of stature, short and stubby fingers, small epiphyses in several joints, including the knee, ankle, hand, and hip. The Ribbing type is confined predominantly to the hip joints and is characterized by hands that are normal and stature that is normal or near-normal. Multiple epiphyseal dysplasia type 4 is a recessively inherited form, characterized by early childhood-onset hip dysplasia and recurrent patella dislocation. Short stature is not frequent. {ECO:0000269|PubMed:12966518, ECO:0000269|PubMed:21922596}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

An autosomal recessive disease characterized by osteochondrodysplasia with clinical features including dwarfism, spinal deformation, and specific joint abnormalities. {ECO:0000269|PubMed:10466420}. Note=The disease is caused by variants affecting the gene represented in this entry.
A form of achondrogenesis type 1, a lethal form of chondrodysplasia characterized by deficient ossification in the lumbar vertebrae and absent ossification in the sacral, pubic and ischial bones and clinically by stillbirth or early death. In addition to severe micromelia, there is a disproportionately large cranium due to marked edema of soft tissues. ACG1B is an autosomal recessive disease. {ECO:0000269|PubMed:8528239}. Note=The disease is caused by variants affecting the gene represented in this entry.
A perinatal dysplasia characterized by shortening of the limbs, a dysmorphic syndrome and radiographic skeletal features. Patients are stillborn or die soon after birth. {ECO:0000269|PubMed:8571951}. Note=The disease is caused by variants affecting the gene represented in this entry.
A generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. Radiological examination of the skeleton shows delayed, irregular mineralization of the epiphyseal ossification centers and of the centers of the carpal and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized into the more severe Fairbank and the milder Ribbing types. The Fairbank type is characterized by shortness of stature, short and stubby fingers, small epiphyses in several joints, including the knee, ankle, hand, and hip. The Ribbing type is confined predominantly to the hip joints and is characterized by hands that are normal and stature that is normal or near-normal. Multiple epiphyseal dysplasia type 4 is a recessively inherited form, characterized by early childhood-onset hip dysplasia and recurrent patella dislocation. Short stature is not frequent. {ECO:0000269|PubMed:12966518, ECO:0000269|PubMed:21922596}. Note=The disease is caused by variants affecting the gene represented in this entry.

3 regional properties for P50443

Type	Name	Position	InterPro Accession
domain	STAS domain	568 - 719	IPR002645
domain	SLC26A/SulP transporter domain	109 - 518	IPR011547
conserved_site	Sulphate anion transporter, conserved site	137 - 158	IPR018045

Functions

		Description
EC Number
Subcellular Localization	Cell membrane ; Multi-pass membrane protein Apical cell membrane ; Multi-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 GO annotations of cellular component

Name	Definition
apical plasma membrane	The region of the plasma membrane located at the apical end of the cell.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
integral component of plasma membrane	The component of the plasma 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.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
microvillus membrane	The portion of the plasma membrane surrounding a microvillus.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

5 GO annotations of molecular function

Name	Definition
bicarbonate transmembrane transporter activity	Enables the transfer of bicarbonate from one side of a membrane to the other. Bicarbonate is the hydrogencarbonate ion, HCO3-.
chloride transmembrane transporter activity	Enables the transfer of chloride ions from one side of a membrane to the other.
oxalate transmembrane transporter activity	Enables the transfer of oxalate from one side of a membrane to the other. Oxalate, or ethanedioic acid, occurs in many plants and is highly toxic to animals.
secondary active sulfate transmembrane transporter activity	Enables the secondary active transfer of sulfate from one side of a membrane to the other. Secondary active transport is the transfer of a solute across a membrane, up its concentration gradient. The transporter binds the solute and undergoes a series of conformational changes. Transport works equally well in either direction and is driven by a chemiosmotic source of energy. Secondary active transporters include symporters and antiporters.
sulfate transmembrane transporter activity	Enables the transfer of sulfate ions, SO4(2-), from one side of a membrane to the other.

4 GO annotations of biological process

Name	Definition
3'-phosphoadenosine 5'-phosphosulfate biosynthetic process	The chemical reactions and pathways resulting in the formation of 3'-phosphoadenosine 5'-phosphosulfate, a naturally occurring mixed anhydride. It is an intermediate in the formation of a variety of sulfo compounds in biological systems.
ion transport	The directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
ossification	The formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance.
sulfate transmembrane transport	The directed movement of sulfate across a membrane.

15 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
A6QNW6	SLC26A8	Testis anion transporter 1	Bos taurus (Bovine)	PR
Q86WA9	SLC26A11	Sodium-independent sulfate anion transporter	Homo sapiens (Human)	PR
Q96RN1	SLC26A8	Testis anion transporter 1	Homo sapiens (Human)	PR
P58743	SLC26A5	Prestin	Homo sapiens (Human)	PR
Q8TE54	SLC26A7	Anion exchange transporter	Homo sapiens (Human)	PR
Q9R155	Slc26a4	Pendrin	Mus musculus (Mouse)	PR
Q9WVC8	Slc26a3	Chloride anion exchanger	Mus musculus (Mouse)	PR
Q99NH7	Slc26a5	Prestin	Mus musculus (Mouse)	PR
Q8R0C3	Slc26a8	Testis anion transporter 1	Mus musculus (Mouse)	PR
Q924C9	Slc26a3	Chloride anion exchanger	Rattus norvegicus (Rat)	PR
Q9EPH0	Slc26a5	Prestin	Rattus norvegicus (Rat)	PR
Q02920		Early nodulin-70	Glycine max (Soybean) (Glycine hispida)	PR
Q9FY46	SULTR4;1	Sulfate transporter 4.1, chloroplastic	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9SV13	SULTR3;1	Sulfate transporter 3.1	Arabidopsis thaliana (Mouse-ear cress)	PR
Q8GYH8	SULTR4;2	Probable sulfate transporter 4.2	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MSSESKEQHN	VSPRDSAEGN	DSYPSGIHLE	LQRESSTDFK	QFETNDQCRP	YHRILIERQE
70	80	90	100	110	120
KSDTNFKEFV	IKKLQKNCQC	SPAKAKNMIL	GFLPVLQWLP	KYDLKKNILG	DVMSGLIVGI
130	140	150	160	170	180
LLVPQSIAYS	LLAGQEPVYG	LYTSFFASII	YFLLGTSRHI	SVGIFGVLCL	MIGETVDREL
190	200	210	220	230	240
QKAGYDNAHS	APSLGMVSNG	STLLNHTSDR	ICDKSCYAIM	VGSTVTFIAG	VYQVAMGFFQ
250	260	270	280	290	300
VGFVSVYLSD	ALLSGFVTGA	SFTILTSQAK	YLLGLNLPRT	NGVGSLITTW	IHVFRNIHKT
310	320	330	340	350	360
NLCDLITSLL	CLLVLLPTKE	LNEHFKSKLK	APIPIELVVV	VAATLASHFG	KLHENYNSSI
370	380	390	400	410	420
AGHIPTGFMP	PKVPEWNLIP	SVAVDAIAIS	IIGFAITVSL	SEMFAKKHGY	TVKANQEMYA
430	440	450	460	470	480
IGFCNIIPSF	FHCFTTSAAL	AKTLVKESTG	CHTQLSGVVT	ALVLLLVLLV	IAPLFYSLQK
490	500	510	520	530	540
SVLGVITIVN	LRGALRKFRD	LPKMWSISRM	DTVIWFVTML	SSALLSTEIG	LLVGVCFSIF
550	560	570	580	590	600
CVILRTQKPK	SSLLGLVEES	EVFESVSAYK	NLQIKPGIKI	FRFVAPLYYI	NKECFKSALY
610	620	630	640	650	660
KQTVNPILIK	VAWKKAAKRK	IKEKVVTLGG	IQDEMSVQLS	HDPLELHTIV	IDCSAIQFLD
670	680	690	700	710	720
TAGIHTLKEV	RRDYEAIGIQ	VLLAQCNPTV	RDSLTNGEYC	KKEEENLLFY	SVYEAMAFAE
730
VSKNQKGVCV	PNGLSLSSD