UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.51140967del | CA2695223378 | SALL1 | c.1256del (p.Leu419CysfsTer?) c.965del (p.Leu322CysfsTer?) c.77-3414del (n.77-3414del) | |
| 16 | g.51140966_51140969delinsAAGG | CA2222021083 | SALL1 | c.1253_1256delinsCCTT (p.Ser418=) c.962_965delinsCCTT (p.Ser321=) c.77-3417_77-3414delinsCCTT (n.77-3417_77-3414delinsCCTT) | |
| 16 | g.51140967A>C | CA395889073 | SALL1 | c.1255T>G (p.Leu419Val) c.964T>G (p.Leu322Val) c.77-3415T>G (n.77-3415T>G) | |
| 16 | g.51140967A>G | CA495781122 | SALL1 | c.1255T>C (p.Leu419=) c.964T>C (p.Leu322=) c.77-3415T>C (n.77-3415T>C) | |
| 16 | g.51140967A>T | CA395889074 | SALL1 | c.1255T>A (p.Leu419Met) c.964T>A (p.Leu322Met) c.77-3415T>A (n.77-3415T>A) | |
| 16 | g.51140969_51140971del | CA8053306 | SALL1 | c.1253_1255del (p.Ser418del) c.962_964del (p.Ser321del) c.77-3417_77-3415del (n.77-3417_77-3415del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51140968G>A | CA8053307 | SALL1 | c.1254C>T (p.Ser418=) c.963C>T (p.Ser321=) c.77-3416C>T (n.77-3416C>T) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 16 | g.51140968G>C | CA495781123 | SALL1 | c.1254C>G (p.Ser418=) c.963C>G (p.Ser321=) c.77-3416C>G (n.77-3416C>G) | |
| 16 | g.51140968G= | CA2222021086 | SALL1 | c.1254C= (p.Ser418=) c.963C= (p.Ser321=) c.77-3416C= (n.77-3416C=) | |
| 16 | g.51140968G>T | CA495781126 | SALL1 | c.1254C>A (p.Ser418=) c.963C>A (p.Ser321=) c.77-3416C>A (n.77-3416C>A) | |
| 16 | g.51140969G>A | CA395889075 | SALL1 | c.1253C>T (p.Ser418Phe) c.962C>T (p.Ser321Phe) c.77-3417C>T (n.77-3417C>T) | COSMIC |
| 16 | g.51140969G>C | CA8053308 | SALL1 | c.1253C>G (p.Ser418Cys) c.962C>G (p.Ser321Cys) c.77-3417C>G (n.77-3417C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51140969G= | CA2222021090 | SALL1 | c.1253C= (p.Ser418=) c.962C= (p.Ser321=) c.77-3417C= (n.77-3417C=) | |
| 16 | g.51140969G>T | CA395889076 | SALL1 | c.1253C>A (p.Ser418Tyr) c.962C>A (p.Ser321Tyr) c.77-3417C>A (n.77-3417C>A) | |
| 16 | g.51140970A>C | CA395889077 | SALL1 | c.1252T>G (p.Ser418Ala) c.961T>G (p.Ser321Ala) c.77-3418T>G (n.77-3418T>G) | ClinVar gnomAD v4 |
| 16 | g.51140970A>G | CA395889078 | SALL1 | c.1252T>C (p.Ser418Pro) c.961T>C (p.Ser321Pro) c.77-3418T>C (n.77-3418T>C) | |
| 16 | g.51140970A>T | CA395889079 | SALL1 | c.1252T>A (p.Ser418Thr) c.961T>A (p.Ser321Thr) c.77-3418T>A (n.77-3418T>A) | COSMIC |
| 16 | g.51140971G>A | CA495781131 | SALL1 | c.1251C>T (p.Asn417=) c.960C>T (p.Asn320=) c.77-3419C>T (n.77-3419C>T) | gnomAD v4 |
| 16 | g.51140971G>C | CA395889080 | SALL1 | c.1251C>G (p.Asn417Lys) c.960C>G (p.Asn320Lys) c.77-3419C>G (n.77-3419C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.51140971G= | CA2222021095 | SALL1 | c.1251C= (p.Asn417=) c.960C= (p.Asn320=) c.77-3419C= (n.77-3419C=) | |
| 16 | g.51140971G>T | CA395889081 | SALL1 | c.1251C>A (p.Asn417Lys) c.960C>A (p.Asn320Lys) c.77-3419C>A (n.77-3419C>A) | |
| 16 | g.51140972T>A | CA395889082 | SALL1 | c.1250A>T (p.Asn417Ile) c.959A>T (p.Asn320Ile) c.77-3420A>T (n.77-3420A>T) | |
| 16 | g.51140972T>C | CA395889083 | SALL1 | c.1250A>G (p.Asn417Ser) c.959A>G (p.Asn320Ser) c.77-3420A>G (n.77-3420A>G) | |
| 16 | g.51140972T>G | CA395889084 | SALL1 | c.1250A>C (p.Asn417Thr) c.959A>C (p.Asn320Thr) c.77-3420A>C (n.77-3420A>C) | |
| 16 | g.51140973T>A | CA395889085 | SALL1 | c.1249A>T (p.Asn417Tyr) c.958A>T (p.Asn320Tyr) c.77-3421A>T (n.77-3421A>T) | |
| 16 | g.51140973T>C | CA395889086 | SALL1 | c.1249A>G (p.Asn417Asp) c.958A>G (p.Asn320Asp) c.77-3421A>G (n.77-3421A>G) | |
| 16 | g.51140973T>G | CA395889087 | SALL1 | c.1249A>C (p.Asn417His) c.958A>C (p.Asn320His) c.77-3421A>C (n.77-3421A>C) | |
| 16 | g.51140974T>A | CA395889088 | SALL1 | c.1248A>T (p.Leu416Phe) c.957A>T (p.Leu319Phe) c.77-3422A>T (n.77-3422A>T) | |
| 16 | g.51140974T>C | CA495781139 | SALL1 | c.1248A>G (p.Leu416=) c.957A>G (p.Leu319=) c.77-3422A>G (n.77-3422A>G) | |
| 16 | g.51140974T>G | CA395889089 | SALL1 | c.1248A>C (p.Leu416Phe) c.957A>C (p.Leu319Phe) c.77-3422A>C (n.77-3422A>C) | |
| 16 | g.51140975A>C | CA395889090 | SALL1 | c.1247T>G (p.Leu416Ter) c.956T>G (p.Leu319Ter) c.77-3423T>G (n.77-3423T>G) | |
| 16 | g.51140975A>G | CA395889091 | SALL1 | c.1247T>C (p.Leu416Ser) c.956T>C (p.Leu319Ser) c.77-3423T>C (n.77-3423T>C) | |
| 16 | g.51140975A>T | CA395889092 | SALL1 | c.1247T>A (p.Leu416Ter) c.956T>A (p.Leu319Ter) c.77-3423T>A (n.77-3423T>A) | |
| 16 | g.51140976A= | CA2222021104 | SALL1 | c.1246T= (p.Leu416=) c.955T= (p.Leu319=) c.77-3424T= (n.77-3424T=) | |
| 16 | g.51140976A>C | CA395889093 | SALL1 | c.1246T>G (p.Leu416Val) c.955T>G (p.Leu319Val) c.77-3424T>G (n.77-3424T>G) | |
| 16 | g.51140976A>G | CA495781143 | SALL1 | c.1246T>C (p.Leu416=) c.955T>C (p.Leu319=) c.77-3424T>C (n.77-3424T>C) | |
| 16 | g.51140976A>T | CA8053309 | SALL1 | c.1246T>A (p.Leu416Ile) c.955T>A (p.Leu319Ile) c.77-3424T>A (n.77-3424T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.51140977A>C | CA395889094 | SALL1 | c.1245T>G (p.Asp415Glu) c.954T>G (p.Asp318Glu) c.77-3425T>G (n.77-3425T>G) | |
| 16 | g.51140977A>G | CA495781145 | SALL1 | c.1245T>C (p.Asp415=) c.954T>C (p.Asp318=) c.77-3425T>C (n.77-3425T>C) | |
| 16 | g.51140977A>T | CA395889095 | SALL1 | c.1245T>A (p.Asp415Glu) c.954T>A (p.Asp318Glu) c.77-3425T>A (n.77-3425T>A) | |
| 16 | g.51140978T>A | CA395889096 | SALL1 | c.1244A>T (p.Asp415Val) c.953A>T (p.Asp318Val) c.77-3426A>T (n.77-3426A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.51140978T>C | CA395889097 | SALL1 | c.1244A>G (p.Asp415Gly) c.953A>G (p.Asp318Gly) c.77-3426A>G (n.77-3426A>G) | |
| 16 | g.51140978T>G | CA395889098 | SALL1 | c.1244A>C (p.Asp415Ala) c.953A>C (p.Asp318Ala) c.77-3426A>C (n.77-3426A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.51140978T= | CA2222021108 | SALL1 | c.1244A= (p.Asp415=) c.953A= (p.Asp318=) c.77-3426A= (n.77-3426A=) | |
| 16 | g.51140979C>A | CA395889099 | SALL1 | c.1243G>T (p.Asp415Tyr) c.952G>T (p.Asp318Tyr) c.77-3427G>T (n.77-3427G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.51140979C= | CA2222021112 | SALL1 | c.1243G= (p.Asp415=) c.952G= (p.Asp318=) c.77-3427G= (n.77-3427G=) | |
| 16 | g.51140979C>G | CA395889100 | SALL1 | c.1243G>C (p.Asp415His) c.952G>C (p.Asp318His) c.77-3427G>C (n.77-3427G>C) | |
| 16 | g.51140979C>T | CA8053310 | SALL1 | c.1243G>A (p.Asp415Asn) c.952G>A (p.Asp318Asn) c.77-3427G>A (n.77-3427G>A) | dbSNP ExAC COSMIC |
| 16 | g.51140980C>A | CA395889101 | SALL1 | c.1242G>T (p.Glu414Asp) c.951G>T (p.Glu317Asp) c.77-3428G>T (n.77-3428G>T) | |
| 16 | g.51140980C>G | CA395889102 | SALL1 | c.1242G>C (p.Glu414Asp) c.951G>C (p.Glu317Asp) c.77-3428G>C (n.77-3428G>C) | |
| 16 | g.51140980C>T | CA495781149 | SALL1 | c.1242G>A (p.Glu414=) c.951G>A (p.Glu317=) c.77-3428G>A (n.77-3428G>A) | gnomAD v4 |
| 16 | g.51140981T>A | CA395889103 | SALL1 | c.1241A>T (p.Glu414Val) c.950A>T (p.Glu317Val) c.77-3429A>T (n.77-3429A>T) | |
| 16 | g.51140981T>C | CA395889104 | SALL1 | c.1241A>G (p.Glu414Gly) c.950A>G (p.Glu317Gly) c.77-3429A>G (n.77-3429A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.51140981T>G | CA395889105 | SALL1 | c.1241A>C (p.Glu414Ala) c.950A>C (p.Glu317Ala) c.77-3429A>C (n.77-3429A>C) | |
| 16 | g.51140981T= | CA2222021115 | SALL1 | c.1241A= (p.Glu414=) c.950A= (p.Glu317=) c.77-3429A= (n.77-3429A=) | |
| 16 | g.51140982C>A | CA395889106 | SALL1 | c.1240G>T (p.Glu414Ter) c.949G>T (p.Glu317Ter) c.77-3430G>T (n.77-3430G>T) | ClinVar |
| 16 | g.51140982C>G | CA395889108 | SALL1 | c.1240G>C (p.Glu414Gln) c.949G>C (p.Glu317Gln) c.77-3430G>C (n.77-3430G>C) | |
| 16 | g.51140982C>T | CA395889107 | SALL1 | c.1240G>A (p.Glu414Lys) c.949G>A (p.Glu317Lys) c.77-3430G>A (n.77-3430G>A) | |
| 16 | g.51140983T>A | CA495781154 | SALL1 | c.1239A>T (p.Ala413=) c.948A>T (p.Ala316=) c.77-3431A>T (n.77-3431A>T) | |
| 16 | g.51140983T>C | CA495781155 | SALL1 | c.1239A>G (p.Ala413=) c.948A>G (p.Ala316=) c.77-3431A>G (n.77-3431A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.51140983T>G | CA495781157 | SALL1 | c.1239A>C (p.Ala413=) c.948A>C (p.Ala316=) c.77-3431A>C (n.77-3431A>C) | |
| 16 | g.51140983T= | CA2222021117 | SALL1 | c.1239A= (p.Ala413=) c.948A= (p.Ala316=) c.77-3431A= (n.77-3431A=) | |
| 16 | g.51140984G>A | CA395889109 | SALL1 | c.1238C>T (p.Ala413Val) c.947C>T (p.Ala316Val) c.77-3432C>T (n.77-3432C>T) | dbSNP |
| 16 | g.51140984G>C | CA395889110 | SALL1 | c.1238C>G (p.Ala413Gly) c.947C>G (p.Ala316Gly) c.77-3432C>G (n.77-3432C>G) | |
| 16 | g.51140984G= | CA2222021121 | SALL1 | c.1238C= (p.Ala413=) c.947C= (p.Ala316=) c.77-3432C= (n.77-3432C=) | |
| 16 | g.51140984G>T | CA395889111 | SALL1 | c.1238C>A (p.Ala413Glu) c.947C>A (p.Ala316Glu) c.77-3432C>A (n.77-3432C>A) | |
| 16 | g.51140985C>A | CA395889112 | SALL1 | c.1237G>T (p.Ala413Ser) c.946G>T (p.Ala316Ser) c.77-3433G>T (n.77-3433G>T) | |
| 16 | g.51140985C>G | CA395889113 | SALL1 | c.1237G>C (p.Ala413Pro) c.946G>C (p.Ala316Pro) c.77-3433G>C (n.77-3433G>C) | |
| 16 | g.51140985C>T | CA395889114 | SALL1 | c.1237G>A (p.Ala413Thr) c.946G>A (p.Ala316Thr) c.77-3433G>A (n.77-3433G>A) | gnomAD v4 |
| 16 | g.51140986A= | CA2222021124 | SALL1 | c.1236T= (p.Thr412=) c.945T= (p.Thr315=) c.77-3434T= (n.77-3434T=) | |
| 16 | g.51140986A>C | CA495781163 | SALL1 | c.1236T>G (p.Thr412=) c.945T>G (p.Thr315=) c.77-3434T>G (n.77-3434T>G) | |
| 16 | g.51140986A>G | CA495781166 | SALL1 | c.1236T>C (p.Thr412=) c.945T>C (p.Thr315=) c.77-3434T>C (n.77-3434T>C) | |
| 16 | g.51140986A>T | CA8053311 | SALL1 | c.1236T>A (p.Thr412=) c.945T>A (p.Thr315=) c.77-3434T>A (n.77-3434T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.51140987G>A | CA395889115 | SALL1 | c.1235C>T (p.Thr412Ile) c.944C>T (p.Thr315Ile) c.77-3435C>T (n.77-3435C>T) | |
| 16 | g.51140987G>C | CA395889116 | SALL1 | c.1235C>G (p.Thr412Ser) c.944C>G (p.Thr315Ser) c.77-3435C>G (n.77-3435C>G) | gnomAD v4 |
| 16 | g.51140987G>T | CA395889117 | SALL1 | c.1235C>A (p.Thr412Asn) c.944C>A (p.Thr315Asn) c.77-3435C>A (n.77-3435C>A) | |
| 16 | g.51140988T>A | CA395889119 | SALL1 | c.1234A>T (p.Thr412Ser) c.943A>T (p.Thr315Ser) c.77-3436A>T (n.77-3436A>T) | |
| 16 | g.51140988T>C | CA395889120 | SALL1 | c.1234A>G (p.Thr412Ala) c.943A>G (p.Thr315Ala) c.77-3436A>G (n.77-3436A>G) | ClinVar |
| 16 | g.51140988T>G | CA395889118 | SALL1 | c.1234A>C (p.Thr412Pro) c.943A>C (p.Thr315Pro) c.77-3436A>C (n.77-3436A>C) | dbSNP |
| 16 | g.51140989dup | CA645580659 | SALL1 | c.1234dup (p.Thr412AsnfsTer26) c.943dup (p.Thr315AsnfsTer26) c.77-3436dup (n.77-3436dup) | COSMIC |
| 16 | g.51140988_51140989insA | CA495781170 | SALL1 | c.1233_1234insT (p.Thr412TyrfsTer26) c.942_943insT (p.Thr315TyrfsTer26) c.77-3437_77-3436insT (n.77-3437_77-3436insT) | |
| 16 | g.51140989T>A | CA495781171 | SALL1 | c.1233A>T (p.Thr411=) c.942A>T (p.Thr314=) c.77-3437A>T (n.77-3437A>T) | |
| 16 | g.51140989T>C | CA495781172 | SALL1 | c.1233A>G (p.Thr411=) c.942A>G (p.Thr314=) c.77-3437A>G (n.77-3437A>G) | |
| 16 | g.51140989T>G | CA495781173 | SALL1 | c.1233A>C (p.Thr411=) c.942A>C (p.Thr314=) c.77-3437A>C (n.77-3437A>C) | |
| 16 | g.51140990G>A | CA395889121 | SALL1 | c.1232C>T (p.Thr411Ile) c.941C>T (p.Thr314Ile) c.77-3438C>T (n.77-3438C>T) | |
| 16 | g.51140990G>C | CA395889122 | SALL1 | c.1232C>G (p.Thr411Arg) c.941C>G (p.Thr314Arg) c.77-3438C>G (n.77-3438C>G) | |
| 16 | g.51140990G>T | CA395889123 | SALL1 | c.1232C>A (p.Thr411Lys) c.941C>A (p.Thr314Lys) c.77-3438C>A (n.77-3438C>A) | dbSNP |
| 16 | g.51140991T>A | CA395889124 | SALL1 | c.1231A>T (p.Thr411Ser) c.940A>T (p.Thr314Ser) c.77-3439A>T (n.77-3439A>T) | |
| 16 | g.51140991T>C | CA395889125 | SALL1 | c.1231A>G (p.Thr411Ala) c.940A>G (p.Thr314Ala) c.77-3439A>G (n.77-3439A>G) | |
| 16 | g.51140991T>G | CA395889126 | SALL1 | c.1231A>C (p.Thr411Pro) c.940A>C (p.Thr314Pro) c.77-3439A>C (n.77-3439A>C) | |
| 16 | g.51140992T>A | CA495781179 | SALL1 | c.1230A>T (p.Gly410=) c.939A>T (p.Gly313=) c.77-3440A>T (n.77-3440A>T) | |
| 16 | g.51140992T>C | CA495781181 | SALL1 | c.1230A>G (p.Gly410=) c.939A>G (p.Gly313=) c.77-3440A>G (n.77-3440A>G) | |
| 16 | g.51140992T>G | CA8053312 | SALL1 | c.1230A>C (p.Gly410=) c.939A>C (p.Gly313=) c.77-3440A>C (n.77-3440A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51140992T= | CA2222021129 | SALL1 | c.1230A= (p.Gly410=) c.939A= (p.Gly313=) c.77-3440A= (n.77-3440A=) | |
| 16 | g.51140993C>A | CA395889127 | SALL1 | c.1229G>T (p.Gly410Val) c.938G>T (p.Gly313Val) c.77-3441G>T (n.77-3441G>T) | |
| 16 | g.51140993C= | CA2222021135 | SALL1 | c.1229G= (p.Gly410=) c.938G= (p.Gly313=) c.77-3441G= (n.77-3441G=) | |
| 16 | g.51140993C>G | CA395889128 | SALL1 | c.1229G>C (p.Gly410Ala) c.938G>C (p.Gly313Ala) c.77-3441G>C (n.77-3441G>C) | |
| 16 | g.51140993C>T | CA8053313 | SALL1 | c.1229G>A (p.Gly410Glu) c.938G>A (p.Gly313Glu) c.77-3441G>A (n.77-3441G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.51140994C>A | CA395889129 | SALL1 | c.1228G>T (p.Gly410Ter) c.937G>T (p.Gly313Ter) c.77-3442G>T (n.77-3442G>T) | ClinVar |
| 16 | g.51140994C= | CA2222021139 | SALL1 | c.1228G= (p.Gly410=) c.937G= (p.Gly313=) c.77-3442G= (n.77-3442G=) | |
| 16 | g.51140994C>G | CA395889130 | SALL1 | c.1228G>C (p.Gly410Arg) c.937G>C (p.Gly313Arg) c.77-3442G>C (n.77-3442G>C) | |
| 16 | g.51140994C>T | CA8053314 | SALL1 | c.1228G>A (p.Gly410Arg) c.937G>A (p.Gly313Arg) c.77-3442G>A (n.77-3442G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51140995G>A | CA8053315 | SALL1 | c.1227C>T (p.Ile409=) c.936C>T (p.Ile312=) c.77-3443C>T (n.77-3443C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.51140995G>C | CA395889131 | SALL1 | c.1227C>G (p.Ile409Met) c.936C>G (p.Ile312Met) c.77-3443C>G (n.77-3443C>G) | dbSNP gnomAD v4 |
| 16 | g.51140995G= | CA2222021142 | SALL1 | c.1227C= (p.Ile409=) c.936C= (p.Ile312=) c.77-3443C= (n.77-3443C=) | |
| 16 | g.51140995G>T | CA495781187 | SALL1 | c.1227C>A (p.Ile409=) c.936C>A (p.Ile312=) c.77-3443C>A (n.77-3443C>A) | |
| 16 | g.51140996A>C | CA395889132 | SALL1 | c.1226T>G (p.Ile409Ser) c.935T>G (p.Ile312Ser) c.77-3444T>G (n.77-3444T>G) | |
| 16 | g.51140996A>G | CA395889133 | SALL1 | c.1226T>C (p.Ile409Thr) c.935T>C (p.Ile312Thr) c.77-3444T>C (n.77-3444T>C) | |
| 16 | g.51140996A>T | CA395889134 | SALL1 | c.1226T>A (p.Ile409Asn) c.935T>A (p.Ile312Asn) c.77-3444T>A (n.77-3444T>A) | |
| 16 | g.51140997T>A | CA395889135 | SALL1 | c.1225A>T (p.Ile409Phe) c.934A>T (p.Ile312Phe) c.77-3445A>T (n.77-3445A>T) | gnomAD v4 |
| 16 | g.51140997T>C | CA395889136 | SALL1 | c.1225A>G (p.Ile409Val) c.934A>G (p.Ile312Val) c.77-3445A>G (n.77-3445A>G) | ClinVar gnomAD v4 |
| 16 | g.51140997T>G | CA395889137 | SALL1 | c.1225A>C (p.Ile409Leu) c.934A>C (p.Ile312Leu) c.77-3445A>C (n.77-3445A>C) | |
| 16 | g.51140998G>A | CA495781192 | SALL1 | c.1224C>T (p.Asn408=) c.933C>T (p.Asn311=) c.77-3446C>T (n.77-3446C>T) | |
| 16 | g.51140998G>C | CA395889139 | SALL1 | c.1224C>G (p.Asn408Lys) c.933C>G (p.Asn311Lys) c.77-3446C>G (n.77-3446C>G) | |
| 16 | g.51140998G>T | CA395889138 | SALL1 | c.1224C>A (p.Asn408Lys) c.933C>A (p.Asn311Lys) c.77-3446C>A (n.77-3446C>A) | |
| 16 | g.51140999T>A | CA395889140 | SALL1 | c.1223A>T (p.Asn408Ile) c.932A>T (p.Asn311Ile) c.77-3447A>T (n.77-3447A>T) | |
| 16 | g.51140999T>C | CA395889141 | SALL1 | c.1223A>G (p.Asn408Ser) c.932A>G (p.Asn311Ser) c.77-3447A>G (n.77-3447A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51140999T>G | CA395889142 | SALL1 | c.1223A>C (p.Asn408Thr) c.932A>C (p.Asn311Thr) c.77-3447A>C (n.77-3447A>C) | |
| 16 | g.51140999T= | CA2222021145 | SALL1 | c.1223A= (p.Asn408=) c.932A= (p.Asn311=) c.77-3447A= (n.77-3447A=) | |
| 16 | g.51141000T>A | CA395889143 | SALL1 | c.1222A>T (p.Asn408Tyr) c.931A>T (p.Asn311Tyr) c.77-3448A>T (n.77-3448A>T) | |
| 16 | g.51141000T>C | CA395889144 | SALL1 | c.1222A>G (p.Asn408Asp) c.931A>G (p.Asn311Asp) c.77-3448A>G (n.77-3448A>G) | dbSNP |
| 16 | g.51141000T>G | CA395889145 | SALL1 | c.1222A>C (p.Asn408His) c.931A>C (p.Asn311His) c.77-3448A>C (n.77-3448A>C) | |
| 16 | g.51141000T= | CA2222021151 | SALL1 | c.1222A= (p.Asn408=) c.931A= (p.Asn311=) c.77-3448A= (n.77-3448A=) | |
| 16 | g.51141001G>A | CA495781197 | SALL1 | c.1221C>T (p.Pro407=) c.930C>T (p.Pro310=) c.77-3449C>T (n.77-3449C>T) | gnomAD v4 |
| 16 | g.51141001G>C | CA495781198 | SALL1 | c.1221C>G (p.Pro407=) c.930C>G (p.Pro310=) c.77-3449C>G (n.77-3449C>G) | |
| 16 | g.51141001G>T | CA495781199 | SALL1 | c.1221C>A (p.Pro407=) c.930C>A (p.Pro310=) c.77-3449C>A (n.77-3449C>A) | COSMIC |
| 16 | g.51141002G>A | CA395889146 | SALL1 | c.1220C>T (p.Pro407Leu) c.929C>T (p.Pro310Leu) c.77-3450C>T (n.77-3450C>T) | |
| 16 | g.51141002G>C | CA395889148 | SALL1 | c.1220C>G (p.Pro407Arg) c.929C>G (p.Pro310Arg) c.77-3450C>G (n.77-3450C>G) | gnomAD v4 |
| 16 | g.51141002G>T | CA395889147 | SALL1 | c.1220C>A (p.Pro407His) c.929C>A (p.Pro310His) c.77-3450C>A (n.77-3450C>A) | |
| 16 | g.51141003G>A | CA395889149 | SALL1 | c.1219C>T (p.Pro407Ser) c.928C>T (p.Pro310Ser) c.77-3451C>T (n.77-3451C>T) | |
| 16 | g.51141003G>C | CA395889150 | SALL1 | c.1219C>G (p.Pro407Ala) c.928C>G (p.Pro310Ala) c.77-3451C>G (n.77-3451C>G) | |
| 16 | g.51141003G>T | CA395889151 | SALL1 | c.1219C>A (p.Pro407Thr) c.928C>A (p.Pro310Thr) c.77-3451C>A (n.77-3451C>A) | gnomAD v4 |
| 16 | g.51141004C>A | CA395889152 | SALL1 | c.1218G>T (p.Leu406Phe) c.927G>T (p.Leu309Phe) c.77-3452G>T (n.77-3452G>T) | |
| 16 | g.51141004C>G | CA395889153 | SALL1 | c.1218G>C (p.Leu406Phe) c.927G>C (p.Leu309Phe) c.77-3452G>C (n.77-3452G>C) | |
| 16 | g.51141004C>T | CA495781206 | SALL1 | c.1218G>A (p.Leu406=) c.927G>A (p.Leu309=) c.77-3452G>A (n.77-3452G>A) | |
| 16 | g.51141005A>C | CA395889154 | SALL1 | c.1217T>G (p.Leu406Trp) c.926T>G (p.Leu309Trp) c.77-3453T>G (n.77-3453T>G) | |
| 16 | g.51141005A>G | CA395889155 | SALL1 | c.1217T>C (p.Leu406Ser) c.926T>C (p.Leu309Ser) c.77-3453T>C (n.77-3453T>C) | ClinVar gnomAD v4 |
| 16 | g.51141005A>T | CA395889156 | SALL1 | c.1217T>A (p.Leu406Ter) c.926T>A (p.Leu309Ter) c.77-3453T>A (n.77-3453T>A) | |
| 16 | g.51141006A>C | CA395889157 | SALL1 | c.1216T>G (p.Leu406Val) c.925T>G (p.Leu309Val) c.77-3454T>G (n.77-3454T>G) | |
| 16 | g.51141006A>G | CA495781209 | SALL1 | c.1216T>C (p.Leu406=) c.925T>C (p.Leu309=) c.77-3454T>C (n.77-3454T>C) | |
| 16 | g.51141006A>T | CA395889158 | SALL1 | c.1216T>A (p.Leu406Met) c.925T>A (p.Leu309Met) c.77-3454T>A (n.77-3454T>A) | |
| 16 | g.51141007A= | CA2222021154 | SALL1 | c.1215T= (p.Pro405=) c.924T= (p.Pro308=) c.77-3455T= (n.77-3455T=) | |
| 16 | g.51141007A>C | CA495781212 | SALL1 | c.1215T>G (p.Pro405=) c.924T>G (p.Pro308=) c.77-3455T>G (n.77-3455T>G) | |
| 16 | g.51141007A>G | CA495781211 | SALL1 | c.1215T>C (p.Pro405=) c.924T>C (p.Pro308=) c.77-3455T>C (n.77-3455T>C) | |
| 16 | g.51141007A>T | CA495781210 | SALL1 | c.1215T>A (p.Pro405=) c.924T>A (p.Pro308=) c.77-3455T>A (n.77-3455T>A) | |
| 16 | g.51141008G>A | CA395889159 | SALL1 | c.1214C>T (p.Pro405Leu) c.923C>T (p.Pro308Leu) c.77-3456C>T (n.77-3456C>T) | dbSNP gnomAD v4 |
| 16 | g.51141008G>C | CA395889160 | SALL1 | c.1214C>G (p.Pro405Arg) c.923C>G (p.Pro308Arg) c.77-3456C>G (n.77-3456C>G) | |
| 16 | g.51141008G= | CA2222021179 | SALL1 | c.1214C= (p.Pro405=) c.923C= (p.Pro308=) c.77-3456C= (n.77-3456C=) | |
| 16 | g.51141008G>T | CA395889161 | SALL1 | c.1214C>A (p.Pro405His) c.923C>A (p.Pro308His) c.77-3456C>A (n.77-3456C>A) | |
| 16 | g.51141010dup | CA658658470 | SALL1 | c.1214dup (p.Leu406PhefsTer?) c.923dup (p.Leu309PhefsTer?) c.77-3456dup (n.77-3456dup) | ClinVar dbSNP |
| 16 | g.51141009G>A | CA395889164 | SALL1 | c.1213C>T (p.Pro405Ser) c.922C>T (p.Pro308Ser) c.77-3457C>T (n.77-3457C>T) | dbSNP gnomAD v4 |
| 16 | g.51141009G>C | CA395889162 | SALL1 | c.1213C>G (p.Pro405Ala) c.922C>G (p.Pro308Ala) c.77-3457C>G (n.77-3457C>G) | |
| 16 | g.51141009G= | CA2222021183 | SALL1 | c.1213C= (p.Pro405=) c.922C= (p.Pro308=) c.77-3457C= (n.77-3457C=) | |
| 16 | g.51141009G>T | CA395889163 | SALL1 | c.1213C>A (p.Pro405Thr) c.922C>A (p.Pro308Thr) c.77-3457C>A (n.77-3457C>A) | |
| 16 | g.51141010G>A | CA8053316 | SALL1 | c.1212C>T (p.Ser404=) c.921C>T (p.Ser307=) c.77-3458C>T (n.77-3458C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.51141010G>C | CA395889165 | SALL1 | c.1212C>G (p.Ser404Arg) c.921C>G (p.Ser307Arg) c.77-3458C>G (n.77-3458C>G) | |
| 16 | g.51141010G= | CA2222021191 | SALL1 | c.1212C= (p.Ser404=) c.921C= (p.Ser307=) c.77-3458C= (n.77-3458C=) | |
| 16 | g.51141010G>T | CA395889166 | SALL1 | c.1212C>A (p.Ser404Arg) c.921C>A (p.Ser307Arg) c.77-3458C>A (n.77-3458C>A) | |
| 16 | g.51141011C>A | CA395889167 | SALL1 | c.1211G>T (p.Ser404Ile) c.920G>T (p.Ser307Ile) c.77-3459G>T (n.77-3459G>T) | |
| 16 | g.51141011C>G | CA395889168 | SALL1 | c.1211G>C (p.Ser404Thr) c.920G>C (p.Ser307Thr) c.77-3459G>C (n.77-3459G>C) | |
| 16 | g.51141011C>T | CA395889169 | SALL1 | c.1211G>A (p.Ser404Asn) c.920G>A (p.Ser307Asn) c.77-3459G>A (n.77-3459G>A) | |
| 16 | g.51141012T>A | CA395889170 | SALL1 | c.1210A>T (p.Ser404Cys) c.919A>T (p.Ser307Cys) c.77-3460A>T (n.77-3460A>T) | |
| 16 | g.51141012T>C | CA395889171 | SALL1 | c.1210A>G (p.Ser404Gly) c.919A>G (p.Ser307Gly) c.77-3460A>G (n.77-3460A>G) | |
| 16 | g.51141012T>G | CA8053317 | SALL1 | c.1210A>C (p.Ser404Arg) c.919A>C (p.Ser307Arg) c.77-3460A>C (n.77-3460A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.51141012T= | CA2222021199 | SALL1 | c.1210A= (p.Ser404=) c.919A= (p.Ser307=) c.77-3460A= (n.77-3460A=) | |
| 16 | g.51141013G>A | CA495781218 | SALL1 | c.1209C>T (p.Pro403=) c.918C>T (p.Pro306=) c.77-3461C>T (n.77-3461C>T) | |
| 16 | g.51141013G>C | CA495781220 | SALL1 | c.1209C>G (p.Pro403=) c.918C>G (p.Pro306=) c.77-3461C>G (n.77-3461C>G) | |
| 16 | g.51141013G= | CA2222021203 | SALL1 | c.1209C= (p.Pro403=) c.918C= (p.Pro306=) c.77-3461C= (n.77-3461C=) | |
| 16 | g.51141013G>T | CA495781219 | SALL1 | c.1209C>A (p.Pro403=) c.918C>A (p.Pro306=) c.77-3461C>A (n.77-3461C>A) | dbSNP gnomAD v4 |
| 16 | g.51141016del | CA2695223379 | SALL1 | c.1209del (p.Ser404AlafsTer13) c.918del (p.Ser307AlafsTer13) c.77-3461del (n.77-3461del) | |
| 16 | g.51141014G>A | CA395889172 | SALL1 | c.1208C>T (p.Pro403Leu) c.917C>T (p.Pro306Leu) c.77-3462C>T (n.77-3462C>T) | |
| 16 | g.51141014G>C | CA395889173 | SALL1 | c.1208C>G (p.Pro403Arg) c.917C>G (p.Pro306Arg) c.77-3462C>G (n.77-3462C>G) | gnomAD v4 |
| 16 | g.51141014G>T | CA395889174 | SALL1 | c.1208C>A (p.Pro403His) c.917C>A (p.Pro306His) c.77-3462C>A (n.77-3462C>A) | |
| 16 | g.51141015G>A | CA8053318 | SALL1 | c.1207C>T (p.Pro403Ser) c.916C>T (p.Pro306Ser) c.77-3463C>T (n.77-3463C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51141015G>C | CA395889176 | SALL1 | c.1207C>G (p.Pro403Ala) c.916C>G (p.Pro306Ala) c.77-3463C>G (n.77-3463C>G) | |
| 16 | g.51141015G= | CA2222021204 | SALL1 | c.1207C= (p.Pro403=) c.916C= (p.Pro306=) c.77-3463C= (n.77-3463C=) | |
| 16 | g.51141015G>T | CA395889175 | SALL1 | c.1207C>A (p.Pro403Thr) c.916C>A (p.Pro306Thr) c.77-3463C>A (n.77-3463C>A) | |
| 16 | g.51141016G>A | CA495781225 | SALL1 | c.1206C>T (p.Phe402=) c.915C>T (p.Phe305=) c.77-3464C>T (n.77-3464C>T) | gnomAD v4 |
| 16 | g.51141016G>C | CA395889178 | SALL1 | c.1206C>G (p.Phe402Leu) c.915C>G (p.Phe305Leu) c.77-3464C>G (n.77-3464C>G) | |
| 16 | g.51141016G>T | CA395889177 | SALL1 | c.1206C>A (p.Phe402Leu) c.915C>A (p.Phe305Leu) c.77-3464C>A (n.77-3464C>A) | |
| 16 | g.51141018_51141024del | CA2695223380 | SALL1 | c.1200_1206del (p.Val401ProfsTer14) c.909_915del (p.Val304ProfsTer14) c.77-3470_77-3464del (n.77-3470_77-3464del) | |
| 16 | g.51141017A>C | CA395889181 | SALL1 | c.1205T>G (p.Phe402Cys) c.914T>G (p.Phe305Cys) c.77-3465T>G (n.77-3465T>G) | |
| 16 | g.51141017A>G | CA395889179 | SALL1 | c.1205T>C (p.Phe402Ser) c.914T>C (p.Phe305Ser) c.77-3465T>C (n.77-3465T>C) | gnomAD v4 |
| 16 | g.51141017A>T | CA395889180 | SALL1 | c.1205T>A (p.Phe402Tyr) c.914T>A (p.Phe305Tyr) c.77-3465T>A (n.77-3465T>A) | |
| 16 | g.51141018A>C | CA395889182 | SALL1 | c.1204T>G (p.Phe402Val) c.913T>G (p.Phe305Val) c.77-3466T>G (n.77-3466T>G) | |
| 16 | g.51141018A>G | CA395889183 | SALL1 | c.1204T>C (p.Phe402Leu) c.913T>C (p.Phe305Leu) c.77-3466T>C (n.77-3466T>C) | |
| 16 | g.51141018A>T | CA395889184 | SALL1 | c.1204T>A (p.Phe402Ile) c.913T>A (p.Phe305Ile) c.77-3466T>A (n.77-3466T>A) | |
| 16 | g.51141019A>C | CA495781230 | SALL1 | c.1203T>G (p.Val401=) c.912T>G (p.Val304=) c.77-3467T>G (n.77-3467T>G) | |
| 16 | g.51141019A>G | CA495781231 | SALL1 | c.1203T>C (p.Val401=) c.912T>C (p.Val304=) c.77-3467T>C (n.77-3467T>C) | |
| 16 | g.51141019A>T | CA495781232 | SALL1 | c.1203T>A (p.Val401=) c.912T>A (p.Val304=) c.77-3467T>A (n.77-3467T>A) | |
| 16 | g.51141020A= | CA2222021207 | SALL1 | c.1202T= (p.Val401=) c.911T= (p.Val304=) c.77-3468T= (n.77-3468T=) | |
| 16 | g.51141020A>C | CA8053319 | SALL1 | c.1202T>G (p.Val401Gly) c.911T>G (p.Val304Gly) c.77-3468T>G (n.77-3468T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51141020A>G | CA395889185 | SALL1 | c.1202T>C (p.Val401Ala) c.911T>C (p.Val304Ala) c.77-3468T>C (n.77-3468T>C) | |
| 16 | g.51141020A>T | CA395889186 | SALL1 | c.1202T>A (p.Val401Asp) c.911T>A (p.Val304Asp) c.77-3468T>A (n.77-3468T>A) | |
| 16 | g.51141021C>A | CA395889187 | SALL1 | c.1201G>T (p.Val401Phe) c.910G>T (p.Val304Phe) c.77-3469G>T (n.77-3469G>T) | |
| 16 | g.51141021C>G | CA395889188 | SALL1 | c.1201G>C (p.Val401Leu) c.910G>C (p.Val304Leu) c.77-3469G>C (n.77-3469G>C) | |
| 16 | g.51141021C>T | CA395889189 | SALL1 | c.1201G>A (p.Val401Ile) c.910G>A (p.Val304Ile) c.77-3469G>A (n.77-3469G>A) | |
| 16 | g.51141022C>A | CA495781234 | SALL1 | c.1200G>T (p.Ser400=) c.909G>T (p.Ser303=) c.77-3470G>T (n.77-3470G>T) | |
| 16 | g.51141022C= | CA2222021209 | SALL1 | c.1200G= (p.Ser400=) c.909G= (p.Ser303=) c.77-3470G= (n.77-3470G=) | |
| 16 | g.51141022C>G | CA495781233 | SALL1 | c.1200G>C (p.Ser400=) c.909G>C (p.Ser303=) c.77-3470G>C (n.77-3470G>C) | |
| 16 | g.51141022C>T | CA8053320 | SALL1 | c.1200G>A (p.Ser400=) c.909G>A (p.Ser303=) c.77-3470G>A (n.77-3470G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.51141023G>A | CA8053321 | SALL1 | c.1199C>T (p.Ser400Leu) c.908C>T (p.Ser303Leu) c.77-3471C>T (n.77-3471C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.51141023G>C | CA395889190 | SALL1 | c.1199C>G (p.Ser400Trp) c.908C>G (p.Ser303Trp) c.77-3471C>G (n.77-3471C>G) | gnomAD v4 |
| 16 | g.51141023G= | CA2222021217 | SALL1 | c.1199C= (p.Ser400=) c.908C= (p.Ser303=) c.77-3471C= (n.77-3471C=) | |
| 16 | g.51141023G>T | CA395889191 | SALL1 | c.1199C>A (p.Ser400Ter) c.908C>A (p.Ser303Ter) c.77-3471C>A (n.77-3471C>A) | |
| 16 | g.51141024A= | CA2222021222 | SALL1 | c.1198T= (p.Ser400=) c.907T= (p.Ser303=) c.77-3472T= (n.77-3472T=) | |
| 16 | g.51141024A>C | CA395889192 | SALL1 | c.1198T>G (p.Ser400Ala) c.907T>G (p.Ser303Ala) c.77-3472T>G (n.77-3472T>G) | gnomAD v4 |
| 16 | g.51141024A>G | CA395889193 | SALL1 | c.1198T>C (p.Ser400Pro) c.907T>C (p.Ser303Pro) c.77-3472T>C (n.77-3472T>C) | dbSNP |
| 16 | g.51141024A>T | CA395889194 | SALL1 | c.1198T>A (p.Ser400Thr) c.907T>A (p.Ser303Thr) c.77-3472T>A (n.77-3472T>A) | |
| 16 | g.51141025G>A | CA495781238 | SALL1 | c.1197C>T (p.Asn399=) c.906C>T (p.Asn302=) c.77-3473C>T (n.77-3473C>T) | dbSNP |
| 16 | g.51141025G>C | CA395889195 | SALL1 | c.1197C>G (p.Asn399Lys) c.906C>G (p.Asn302Lys) c.77-3473C>G (n.77-3473C>G) | |
| 16 | g.51141025G= | CA2222021227 | SALL1 | c.1197C= (p.Asn399=) c.906C= (p.Asn302=) c.77-3473C= (n.77-3473C=) | |
| 16 | g.51141025G>T | CA395889196 | SALL1 | c.1197C>A (p.Asn399Lys) c.906C>A (p.Asn302Lys) c.77-3473C>A (n.77-3473C>A) | |
| 16 | g.51141026_51141104del | CA2695223381 | SALL1 | c.1119_1197del (p.Ser374ArgfsTer17) c.828_906del (p.Ser277ArgfsTer17) c.77-3551_77-3473del (n.77-3551_77-3473del) | |
| 16 | g.51141026T>A | CA395889197 | SALL1 | c.1196A>T (p.Asn399Ile) c.905A>T (p.Asn302Ile) c.77-3474A>T (n.77-3474A>T) | |
| 16 | g.51141026T>C | CA395889198 | SALL1 | c.1196A>G (p.Asn399Ser) c.905A>G (p.Asn302Ser) c.77-3474A>G (n.77-3474A>G) | gnomAD v4 |
| 16 | g.51141026T>G | CA395889199 | SALL1 | c.1196A>C (p.Asn399Thr) c.905A>C (p.Asn302Thr) c.77-3474A>C (n.77-3474A>C) | |
| 16 | g.51141027T>A | CA395889200 | SALL1 | c.1195A>T (p.Asn399Tyr) c.904A>T (p.Asn302Tyr) c.77-3475A>T (n.77-3475A>T) | |
| 16 | g.51141027T>C | CA395889201 | SALL1 | c.1195A>G (p.Asn399Asp) c.904A>G (p.Asn302Asp) c.77-3475A>G (n.77-3475A>G) | |
| 16 | g.51141027T>G | CA395889202 | SALL1 | c.1195A>C (p.Asn399His) c.904A>C (p.Asn302His) c.77-3475A>C (n.77-3475A>C) | |
| 16 | g.51141028_51141029insCTA | CA2526722969 | SALL1 | c.1195_1196insGTA (p.Ala398_Asn399insSer) c.904_905insGTA (p.Ala301_Asn302insSer) c.77-3475_77-3474insGTA (n.77-3475_77-3474insGTA) | |
| 16 | g.51141028A>C | CA495781245 | SALL1 | c.1194T>G (p.Ala398=) c.903T>G (p.Ala301=) c.77-3476T>G (n.77-3476T>G) | |
| 16 | g.51141028A>G | CA495781244 | SALL1 | c.1194T>C (p.Ala398=) c.903T>C (p.Ala301=) c.77-3476T>C (n.77-3476T>C) | |
| 16 | g.51141028A>T | CA495781246 | SALL1 | c.1194T>A (p.Ala398=) c.903T>A (p.Ala301=) c.77-3476T>A (n.77-3476T>A) | |
| 16 | g.51141029G>A | CA395889205 | SALL1 | c.1193C>T (p.Ala398Val) c.902C>T (p.Ala301Val) c.77-3477C>T (n.77-3477C>T) | |
| 16 | g.51141029G>C | CA395889204 | SALL1 | c.1193C>G (p.Ala398Gly) c.902C>G (p.Ala301Gly) c.77-3477C>G (n.77-3477C>G) | |
| 16 | g.51141029G>T | CA395889203 | SALL1 | c.1193C>A (p.Ala398Asp) c.902C>A (p.Ala301Asp) c.77-3477C>A (n.77-3477C>A) | |
| 16 | g.51141030C>A | CA395889206 | SALL1 | c.1192G>T (p.Ala398Ser) c.901G>T (p.Ala301Ser) c.77-3478G>T (n.77-3478G>T) | gnomAD v4 COSMIC |
| 16 | g.51141030C= | CA2222021234 | SALL1 | c.1192G= (p.Ala398=) c.901G= (p.Ala301=) c.77-3478G= (n.77-3478G=) | |
| 16 | g.51141030C>G | CA395889207 | SALL1 | c.1192G>C (p.Ala398Pro) c.901G>C (p.Ala301Pro) c.77-3478G>C (n.77-3478G>C) | dbSNP |
| 16 | g.51141030C>T | CA8053322 | SALL1 | c.1192G>A (p.Ala398Thr) c.901G>A (p.Ala301Thr) c.77-3478G>A (n.77-3478G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 16 | g.51141031G>A | CA495781249 | SALL1 | c.1191C>T (p.Ser397=) c.900C>T (p.Ser300=) c.77-3479C>T (n.77-3479C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51141031G>C | CA495781250 | SALL1 | c.1191C>G (p.Ser397=) c.900C>G (p.Ser300=) c.77-3479C>G (n.77-3479C>G) | gnomAD v4 |
| 16 | g.51141031G= | CA2222021239 | SALL1 | c.1191C= (p.Ser397=) c.900C= (p.Ser300=) c.77-3479C= (n.77-3479C=) | |
| 16 | g.51141031G>T | CA495781251 | SALL1 | c.1191C>A (p.Ser397=) c.900C>A (p.Ser300=) c.77-3479C>A (n.77-3479C>A) | |
| 16 | g.51141032G>A | CA395889208 | SALL1 | c.1190C>T (p.Ser397Phe) c.899C>T (p.Ser300Phe) c.77-3480C>T (n.77-3480C>T) | |
| 16 | g.51141032G>C | CA395889209 | SALL1 | c.1190C>G (p.Ser397Cys) c.899C>G (p.Ser300Cys) c.77-3480C>G (n.77-3480C>G) | |
| 16 | g.51141032G>T | CA395889210 | SALL1 | c.1190C>A (p.Ser397Tyr) c.899C>A (p.Ser300Tyr) c.77-3480C>A (n.77-3480C>A) | COSMIC |
| 16 | g.51141033A= | CA2222021246 | SALL1 | c.1189T= (p.Ser397=) c.898T= (p.Ser300=) c.77-3481T= (n.77-3481T=) | |
| 16 | g.51141033A>C | CA395889211 | SALL1 | c.1189T>G (p.Ser397Ala) c.898T>G (p.Ser300Ala) c.77-3481T>G (n.77-3481T>G) | |
| 16 | g.51141033A>G | CA8053323 | SALL1 | c.1189T>C (p.Ser397Pro) c.898T>C (p.Ser300Pro) c.77-3481T>C (n.77-3481T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.51141033A>T | CA395889212 | SALL1 | c.1189T>A (p.Ser397Thr) c.898T>A (p.Ser300Thr) c.77-3481T>A (n.77-3481T>A) | |
| 16 | g.51141034G>A | CA495781255 | SALL1 | c.1188C>T (p.Ala396=) c.897C>T (p.Ala299=) c.77-3482C>T (n.77-3482C>T) | COSMIC |
| 16 | g.51141034G>C | CA495781256 | SALL1 | c.1188C>G (p.Ala396=) c.897C>G (p.Ala299=) c.77-3482C>G (n.77-3482C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.51141034G= | CA2222021249 | SALL1 | c.1188C= (p.Ala396=) c.897C= (p.Ala299=) c.77-3482C= (n.77-3482C=) | |
| 16 | g.51141034G>T | CA495781257 | SALL1 | c.1188C>A (p.Ala396=) c.897C>A (p.Ala299=) c.77-3482C>A (n.77-3482C>A) | |
| 16 | g.51141035G>A | CA395889213 | SALL1 | c.1187C>T (p.Ala396Val) c.896C>T (p.Ala299Val) c.77-3483C>T (n.77-3483C>T) | gnomAD v4 |
| 16 | g.51141035G>C | CA395889214 | SALL1 | c.1187C>G (p.Ala396Gly) c.896C>G (p.Ala299Gly) c.77-3483C>G (n.77-3483C>G) | |
| 16 | g.51141035G>T | CA395889215 | SALL1 | c.1187C>A (p.Ala396Asp) c.896C>A (p.Ala299Asp) c.77-3483C>A (n.77-3483C>A) | |
| 16 | g.51141036C>A | CA395889217 | SALL1 | c.1186G>T (p.Ala396Ser) c.895G>T (p.Ala299Ser) c.77-3484G>T (n.77-3484G>T) | |
| 16 | g.51141036C= | CA2222021255 | SALL1 | c.1186G= (p.Ala396=) c.895G= (p.Ala299=) c.77-3484G= (n.77-3484G=) | |
| 16 | g.51141036C>G | CA395889216 | SALL1 | c.1186G>C (p.Ala396Pro) c.895G>C (p.Ala299Pro) c.77-3484G>C (n.77-3484G>C) | |
| 16 | g.51141036C>T | CA8053324 | SALL1 | c.1186G>A (p.Ala396Thr) c.895G>A (p.Ala299Thr) c.77-3484G>A (n.77-3484G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51141036_51141038del | CA2571909745 | SALL1 | c.1184_1186del (p.Gln395_Ala396delinsPro) c.893_895del (p.Gln298_Ala299delinsPro) c.77-3486_77-3484del (n.77-3486_77-3484del) | |
| 16 | g.51141037T>A | CA395889218 | SALL1 | c.1185A>T (p.Gln395His) c.894A>T (p.Gln298His) c.77-3485A>T (n.77-3485A>T) | |
| 16 | g.51141037T>C | CA495781260 | SALL1 | c.1185A>G (p.Gln395=) c.894A>G (p.Gln298=) c.77-3485A>G (n.77-3485A>G) | |
| 16 | g.51141037T>G | CA395889219 | SALL1 | c.1185A>C (p.Gln395His) c.894A>C (p.Gln298His) c.77-3485A>C (n.77-3485A>C) | |
| 16 | g.51141038T>A | CA395889220 | SALL1 | c.1184A>T (p.Gln395Leu) c.893A>T (p.Gln298Leu) c.77-3486A>T (n.77-3486A>T) | |
| 16 | g.51141038T>C | CA395889221 | SALL1 | c.1184A>G (p.Gln395Arg) c.893A>G (p.Gln298Arg) c.77-3486A>G (n.77-3486A>G) | |
| 16 | g.51141038T>G | CA395889222 | SALL1 | c.1184A>C (p.Gln395Pro) c.893A>C (p.Gln298Pro) c.77-3486A>C (n.77-3486A>C) | gnomAD v4 |
| 16 | g.51141039G>A | CA395889223 | SALL1 | c.1183C>T (p.Gln395Ter) c.892C>T (p.Gln298Ter) c.77-3487C>T (n.77-3487C>T) | ClinVar |
| 16 | g.51141039G>C | CA395889224 | SALL1 | c.1183C>G (p.Gln395Glu) c.892C>G (p.Gln298Glu) c.77-3487C>G (n.77-3487C>G) | |
| 16 | g.51141039G>T | CA395889225 | SALL1 | c.1183C>A (p.Gln395Lys) c.892C>A (p.Gln298Lys) c.77-3487C>A (n.77-3487C>A) | |
| 16 | g.51141040C>A | CA395889226 | SALL1 | c.1182G>T (p.Gln394His) c.891G>T (p.Gln297His) c.77-3488G>T (n.77-3488G>T) | |
| 16 | g.51141040C>G | CA395889227 | SALL1 | c.1182G>C (p.Gln394His) c.891G>C (p.Gln297His) c.77-3488G>C (n.77-3488G>C) | |
| 16 | g.51141040C>T | CA495781264 | SALL1 | c.1182G>A (p.Gln394=) c.891G>A (p.Gln297=) c.77-3488G>A (n.77-3488G>A) | |
| 16 | g.51141041T>A | CA395889228 | SALL1 | c.1181A>T (p.Gln394Leu) c.890A>T (p.Gln297Leu) c.77-3489A>T (n.77-3489A>T) | |
| 16 | g.51141041T>C | CA395889229 | SALL1 | c.1181A>G (p.Gln394Arg) c.890A>G (p.Gln297Arg) c.77-3489A>G (n.77-3489A>G) | |
| 16 | g.51141041T>G | CA395889230 | SALL1 | c.1181A>C (p.Gln394Pro) c.890A>C (p.Gln297Pro) c.77-3489A>C (n.77-3489A>C) | |
| 16 | g.51141042G>A | CA395889232 | SALL1 | c.1180C>T (p.Gln394Ter) c.889C>T (p.Gln297Ter) c.77-3490C>T (n.77-3490C>T) | |
| 16 | g.51141042G>C | CA395889233 | SALL1 | c.1180C>G (p.Gln394Glu) c.889C>G (p.Gln297Glu) c.77-3490C>G (n.77-3490C>G) | |
| 16 | g.51141042G= | CA2222021265 | SALL1 | c.1180C= (p.Gln394=) c.889C= (p.Gln297=) c.77-3490C= (n.77-3490C=) | |
| 16 | g.51141042G>T | CA395889231 | SALL1 | c.1180C>A (p.Gln394Lys) c.889C>A (p.Gln297Lys) c.77-3490C>A (n.77-3490C>A) | dbSNP |
| 16 | g.51141043A>C | CA495781269 | SALL1 | c.1179T>G (p.Pro393=) c.888T>G (p.Pro296=) c.77-3491T>G (n.77-3491T>G) | |
| 16 | g.51141043A>G | CA495781268 | SALL1 | c.1179T>C (p.Pro393=) c.888T>C (p.Pro296=) c.77-3491T>C (n.77-3491T>C) | |
| 16 | g.51141043A>T | CA495781267 | SALL1 | c.1179T>A (p.Pro393=) c.888T>A (p.Pro296=) c.77-3491T>A (n.77-3491T>A) | |
| 16 | g.51141044G>A | CA395889236 | SALL1 | c.1178C>T (p.Pro393Leu) c.887C>T (p.Pro296Leu) c.77-3492C>T (n.77-3492C>T) | gnomAD v4 |
| 16 | g.51141044G>C | CA395889234 | SALL1 | c.1178C>G (p.Pro393Arg) c.887C>G (p.Pro296Arg) c.77-3492C>G (n.77-3492C>G) | |
| 16 | g.51141044G>T | CA395889235 | SALL1 | c.1178C>A (p.Pro393His) c.887C>A (p.Pro296His) c.77-3492C>A (n.77-3492C>A) | |
| 16 | g.51141045G>A | CA395889237 | SALL1 | c.1177C>T (p.Pro393Ser) c.886C>T (p.Pro296Ser) c.77-3493C>T (n.77-3493C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.51141045G>C | CA395889238 | SALL1 | c.1177C>G (p.Pro393Ala) c.886C>G (p.Pro296Ala) c.77-3493C>G (n.77-3493C>G) | |
| 16 | g.51141045G= | CA2222021269 | SALL1 | c.1177C= (p.Pro393=) c.886C= (p.Pro296=) c.77-3493C= (n.77-3493C=) | |
| 16 | g.51141045G>T | CA395889239 | SALL1 | c.1177C>A (p.Pro393Thr) c.886C>A (p.Pro296Thr) c.77-3493C>A (n.77-3493C>A) | |
| 16 | g.51141046T>A | CA495781271 | SALL1 | c.1176A>T (p.Leu392=) c.885A>T (p.Leu295=) c.77-3494A>T (n.77-3494A>T) | |
| 16 | g.51141046T>C | CA495781272 | SALL1 | c.1176A>G (p.Leu392=) c.885A>G (p.Leu295=) c.77-3494A>G (n.77-3494A>G) | |
| 16 | g.51141046T>G | CA495781273 | SALL1 | c.1176A>C (p.Leu392=) c.885A>C (p.Leu295=) c.77-3494A>C (n.77-3494A>C) | dbSNP |
| 16 | g.51141046T= | CA2222021273 | SALL1 | c.1176A= (p.Leu392=) c.885A= (p.Leu295=) c.77-3494A= (n.77-3494A=) | |
| 16 | g.51141047A= | CA2222021276 | SALL1 | c.1175T= (p.Leu392=) c.884T= (p.Leu295=) c.77-3495T= (n.77-3495T=) | |
| 16 | g.51141047A>C | CA395889240 | SALL1 | c.1175T>G (p.Leu392Arg) c.884T>G (p.Leu295Arg) c.77-3495T>G (n.77-3495T>G) | |
| 16 | g.51141047A>G | CA281302690 | SALL1 | c.1175T>C (p.Leu392Pro) c.884T>C (p.Leu295Pro) c.77-3495T>C (n.77-3495T>C) | dbSNP gnomAD v4 |
| 16 | g.51141047A>T | CA395889241 | SALL1 | c.1175T>A (p.Leu392Gln) c.884T>A (p.Leu295Gln) c.77-3495T>A (n.77-3495T>A) | |
| 16 | g.51141048_51141049del | CA2695223382 | SALL1 | c.1174_1175del (p.Leu392ThrfsTer7) c.883_884del (p.Leu295ThrfsTer7) c.77-3496_77-3495del (n.77-3496_77-3495del) | |
| 16 | g.51141048G>A | CA495781275 | SALL1 | c.1174C>T (p.Leu392=) c.883C>T (p.Leu295=) c.77-3496C>T (n.77-3496C>T) | |
| 16 | g.51141048G>C | CA395889242 | SALL1 | c.1174C>G (p.Leu392Val) c.883C>G (p.Leu295Val) c.77-3496C>G (n.77-3496C>G) | |
| 16 | g.51141048G>T | CA395889243 | SALL1 | c.1174C>A (p.Leu392Ile) c.883C>A (p.Leu295Ile) c.77-3496C>A (n.77-3496C>A) | COSMIC |
| 16 | g.51141049A>C | CA495781276 | SALL1 | c.1173T>G (p.Leu391=) c.882T>G (p.Leu294=) c.77-3497T>G (n.77-3497T>G) | gnomAD v4 |
| 16 | g.51141049A>G | CA495781277 | SALL1 | c.1173T>C (p.Leu391=) c.882T>C (p.Leu294=) c.77-3497T>C (n.77-3497T>C) | |
| 16 | g.51141049A>T | CA495781278 | SALL1 | c.1173T>A (p.Leu391=) c.882T>A (p.Leu294=) c.77-3497T>A (n.77-3497T>A) | |
| 16 | g.51141050A= | CA2222021282 | SALL1 | c.1172T= (p.Leu391=) c.881T= (p.Leu294=) c.77-3498T= (n.77-3498T=) | |
| 16 | g.51141050A>C | CA395889244 | SALL1 | c.1172T>G (p.Leu391Arg) c.881T>G (p.Leu294Arg) c.77-3498T>G (n.77-3498T>G) | |
| 16 | g.51141050A>G | CA395889245 | SALL1 | c.1172T>C (p.Leu391Pro) c.881T>C (p.Leu294Pro) c.77-3498T>C (n.77-3498T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.51141050A>T | CA395889246 | SALL1 | c.1172T>A (p.Leu391His) c.881T>A (p.Leu294His) c.77-3498T>A (n.77-3498T>A) | |
| 16 | g.51141051G>A | CA395889249 | SALL1 | c.1171C>T (p.Leu391Phe) c.880C>T (p.Leu294Phe) c.77-3499C>T (n.77-3499C>T) | |
| 16 | g.51141051G>C | CA395889247 | SALL1 | c.1171C>G (p.Leu391Val) c.880C>G (p.Leu294Val) c.77-3499C>G (n.77-3499C>G) | |
| 16 | g.51141051G>T | CA395889248 | SALL1 | c.1171C>A (p.Leu391Ile) c.880C>A (p.Leu294Ile) c.77-3499C>A (n.77-3499C>A) | |
| 16 | g.51141052T>A | CA495781280 | SALL1 | c.1170A>T (p.Pro390=) c.879A>T (p.Pro293=) c.77-3500A>T (n.77-3500A>T) | |
| 16 | g.51141052T>C | CA8053325 | SALL1 | c.1170A>G (p.Pro390=) c.879A>G (p.Pro293=) c.77-3500A>G (n.77-3500A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51141052T>G | CA495781284 | SALL1 | c.1170A>C (p.Pro390=) c.879A>C (p.Pro293=) c.77-3500A>C (n.77-3500A>C) | |
| 16 | g.51141052T= | CA2222021285 | SALL1 | c.1170A= (p.Pro390=) c.879A= (p.Pro293=) c.77-3500A= (n.77-3500A=) | |
| 16 | g.51141053G>A | CA395889250 | SALL1 | c.1169C>T (p.Pro390Leu) c.878C>T (p.Pro293Leu) c.77-3501C>T (n.77-3501C>T) | gnomAD v4 COSMIC |
| 16 | g.51141053G>C | CA395889251 | SALL1 | c.1169C>G (p.Pro390Arg) c.878C>G (p.Pro293Arg) c.77-3501C>G (n.77-3501C>G) | |
| 16 | g.51141053G>T | CA395889252 | SALL1 | c.1169C>A (p.Pro390Gln) c.878C>A (p.Pro293Gln) c.77-3501C>A (n.77-3501C>A) | |
| 16 | g.51141054G>A | CA395889253 | SALL1 | c.1168C>T (p.Pro390Ser) c.877C>T (p.Pro293Ser) c.77-3502C>T (n.77-3502C>T) | COSMIC |
| 16 | g.51141054G>C | CA395889254 | SALL1 | c.1168C>G (p.Pro390Ala) c.877C>G (p.Pro293Ala) c.77-3502C>G (n.77-3502C>G) | |
| 16 | g.51141054G>T | CA395889255 | SALL1 | c.1168C>A (p.Pro390Thr) c.877C>A (p.Pro293Thr) c.77-3502C>A (n.77-3502C>A) | dbSNP |
| 16 | g.51141055A>C | CA395889256 | SALL1 | c.1167T>G (p.Asn389Lys) c.876T>G (p.Asn292Lys) c.77-3503T>G (n.77-3503T>G) | |
| 16 | g.51141055A>G | CA495781288 | SALL1 | c.1167T>C (p.Asn389=) c.876T>C (p.Asn292=) c.77-3503T>C (n.77-3503T>C) | |
| 16 | g.51141055A>T | CA395889257 | SALL1 | c.1167T>A (p.Asn389Lys) c.876T>A (p.Asn292Lys) c.77-3503T>A (n.77-3503T>A) | gnomAD v4 |
| 16 | g.51141056T>A | CA395889258 | SALL1 | c.1166A>T (p.Asn389Ile) c.875A>T (p.Asn292Ile) c.77-3504A>T (n.77-3504A>T) | |
| 16 | g.51141056T>C | CA395889259 | SALL1 | c.1166A>G (p.Asn389Ser) c.875A>G (p.Asn292Ser) c.77-3504A>G (n.77-3504A>G) | |
| 16 | g.51141056T>G | CA395889260 | SALL1 | c.1166A>C (p.Asn389Thr) c.875A>C (p.Asn292Thr) c.77-3504A>C (n.77-3504A>C) | |
| 16 | g.51141057T>A | CA395889262 | SALL1 | c.1165A>T (p.Asn389Tyr) c.874A>T (p.Asn292Tyr) c.77-3505A>T (n.77-3505A>T) | |
| 16 | g.51141057T>C | CA8053326 | SALL1 | c.1165A>G (p.Asn389Asp) c.874A>G (p.Asn292Asp) c.77-3505A>G (n.77-3505A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51141057T>G | CA395889261 | SALL1 | c.1165A>C (p.Asn389His) c.874A>C (p.Asn292His) c.77-3505A>C (n.77-3505A>C) | |
| 16 | g.51141057T= | CA2222021289 | SALL1 | c.1165A= (p.Asn389=) c.874A= (p.Asn292=) c.77-3505A= (n.77-3505A=) | |
| 16 | g.51141058A>C | CA495781291 | SALL1 | c.1164T>G (p.Ser388=) c.873T>G (p.Ser291=) c.77-3506T>G (n.77-3506T>G) | |
| 16 | g.51141058A>G | CA495781293 | SALL1 | c.1164T>C (p.Ser388=) c.873T>C (p.Ser291=) c.77-3506T>C (n.77-3506T>C) | |
| 16 | g.51141058A>T | CA495781294 | SALL1 | c.1164T>A (p.Ser388=) c.873T>A (p.Ser291=) c.77-3506T>A (n.77-3506T>A) | |
| 16 | g.51141059G>A | CA395889263 | SALL1 | c.1163C>T (p.Ser388Phe) c.872C>T (p.Ser291Phe) c.77-3507C>T (n.77-3507C>T) | gnomAD v4 |
| 16 | g.51141059G>C | CA395889264 | SALL1 | c.1163C>G (p.Ser388Cys) c.872C>G (p.Ser291Cys) c.77-3507C>G (n.77-3507C>G) | COSMIC |
| 16 | g.51141059G>T | CA395889265 | SALL1 | c.1163C>A (p.Ser388Tyr) c.872C>A (p.Ser291Tyr) c.77-3507C>A (n.77-3507C>A) | |
| 16 | g.51141060A>C | CA395889266 | SALL1 | c.1162T>G (p.Ser388Ala) c.871T>G (p.Ser291Ala) c.77-3508T>G (n.77-3508T>G) | |
| 16 | g.51141060A>G | CA395889267 | SALL1 | c.1162T>C (p.Ser388Pro) c.871T>C (p.Ser291Pro) c.77-3508T>C (n.77-3508T>C) | |
| 16 | g.51141060A>T | CA395889268 | SALL1 | c.1162T>A (p.Ser388Thr) c.871T>A (p.Ser291Thr) c.77-3508T>A (n.77-3508T>A) | |
| 16 | g.51141060_51141061del | CA2575992065 | SALL1 | c.1161_1162del (p.Ser388Ter) c.870_871del (p.Ser291Ter) c.77-3509_77-3508del (n.77-3509_77-3508del) | |
| 16 | g.51141061C>A | CA8053327 | SALL1 | c.1161G>T (p.Ala387=) c.870G>T (p.Ala290=) c.77-3509G>T (n.77-3509G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.51141061C= | CA2222021294 | SALL1 | c.1161G= (p.Ala387=) c.870G= (p.Ala290=) c.77-3509G= (n.77-3509G=) | |
| 16 | g.51141061C>G | CA495781299 | SALL1 | c.1161G>C (p.Ala387=) c.870G>C (p.Ala290=) c.77-3509G>C (n.77-3509G>C) | gnomAD v4 |
| 16 | g.51141061C>T | CA8053328 | SALL1 | c.1161G>A (p.Ala387=) c.870G>A (p.Ala290=) c.77-3509G>A (n.77-3509G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51141062G>A | CA8053329 | SALL1 | c.1160C>T (p.Ala387Val) c.869C>T (p.Ala290Val) c.77-3510C>T (n.77-3510C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.51141062G>C | CA8053330 | SALL1 | c.1160C>G (p.Ala387Gly) c.869C>G (p.Ala290Gly) c.77-3510C>G (n.77-3510C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.51141062G= | CA2222021298 | SALL1 | c.1160C= (p.Ala387=) c.869C= (p.Ala290=) c.77-3510C= (n.77-3510C=) | |
| 16 | g.51141062G>T | CA395889269 | SALL1 | c.1160C>A (p.Ala387Glu) c.869C>A (p.Ala290Glu) c.77-3510C>A (n.77-3510C>A) | |
| 16 | g.51141063C>A | CA395889270 | SALL1 | c.1159G>T (p.Ala387Ser) c.868G>T (p.Ala290Ser) c.77-3511G>T (n.77-3511G>T) | |
| 16 | g.51141063C>G | CA395889271 | SALL1 | c.1159G>C (p.Ala387Pro) c.868G>C (p.Ala290Pro) c.77-3511G>C (n.77-3511G>C) | |
| 16 | g.51141063C>T | CA395889272 | SALL1 | c.1159G>A (p.Ala387Thr) c.868G>A (p.Ala290Thr) c.77-3511G>A (n.77-3511G>A) | gnomAD v4 |
| 16 | g.51141064A= | CA2222021305 | SALL1 | c.1158T= (p.Pro386=) c.867T= (p.Pro289=) c.77-3512T= (n.77-3512T=) | |
| 16 | g.51141064A>C | CA495781305 | SALL1 | c.1158T>G (p.Pro386=) c.867T>G (p.Pro289=) c.77-3512T>G (n.77-3512T>G) | |
| 16 | g.51141064A>G | CA495781303 | SALL1 | c.1158T>C (p.Pro386=) c.867T>C (p.Pro289=) c.77-3512T>C (n.77-3512T>C) | gnomAD v4 |
| 16 | g.51141064A>T | CA495781304 | SALL1 | c.1158T>A (p.Pro386=) c.867T>A (p.Pro289=) c.77-3512T>A (n.77-3512T>A) | dbSNP gnomAD v4 |
| 16 | g.51141065G>A | CA395889277 | SALL1 | c.1157C>T (p.Pro386Leu) c.866C>T (p.Pro289Leu) c.77-3513C>T (n.77-3513C>T) | |
| 16 | g.51141065G>C | CA395889276 | SALL1 | c.1157C>G (p.Pro386Arg) c.866C>G (p.Pro289Arg) c.77-3513C>G (n.77-3513C>G) | |
| 16 | g.51141065G>T | CA395889274 | SALL1 | c.1157C>A (p.Pro386His) c.866C>A (p.Pro289His) c.77-3513C>A (n.77-3513C>A) | |
| 16 | g.51141066G>A | CA395889279 | SALL1 | c.1156C>T (p.Pro386Ser) c.865C>T (p.Pro289Ser) c.77-3514C>T (n.77-3514C>T) | |
| 16 | g.51141066G>C | CA395889280 | SALL1 | c.1156C>G (p.Pro386Ala) c.865C>G (p.Pro289Ala) c.77-3514C>G (n.77-3514C>G) | |
| 16 | g.51141066G>T | CA395889282 | SALL1 | c.1156C>A (p.Pro386Thr) c.865C>A (p.Pro289Thr) c.77-3514C>A (n.77-3514C>A) | |
| 16 | g.51141067A>C | CA395889285 | SALL1 | c.1155T>G (p.Ser385Arg) c.864T>G (p.Ser288Arg) c.77-3515T>G (n.77-3515T>G) | |
| 16 | g.51141067A>G | CA495781309 | SALL1 | c.1155T>C (p.Ser385=) c.864T>C (p.Ser288=) c.77-3515T>C (n.77-3515T>C) | |
| 16 | g.51141067A>T | CA395889287 | SALL1 | c.1155T>A (p.Ser385Arg) c.864T>A (p.Ser288Arg) c.77-3515T>A (n.77-3515T>A) |