Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.169541653T>ACA343117894F5c.3437A>T (p.His1146Leu)
c.3452A>T (p.His1151Leu)
c.3026A>T (p.His1009Leu)
1g.169541653T>CCA343117896F5c.3437A>G (p.His1146Arg)
c.3452A>G (p.His1151Arg)
c.3026A>G (p.His1009Arg)
1g.169541653T>GCA343117898F5c.3437A>C (p.His1146Pro)
c.3452A>C (p.His1151Pro)
c.3026A>C (p.His1009Pro)
1g.169541654G>ACA1233911F5c.3436C>T (p.His1146Tyr)
c.3451C>T (p.His1151Tyr)
c.3025C>T (p.His1009Tyr)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.169541654G>CCA343117902F5c.3436C>G (p.His1146Asp)
c.3451C>G (p.His1151Asp)
c.3025C>G (p.His1009Asp)
1g.169541654G=CA1206132313F5c.3436C= (p.His1146=)
c.3451C= (p.His1151=)
c.3025C= (p.His1009=)
1g.169541654G>TCA343117901F5c.3436C>A (p.His1146Asn)
c.3451C>A (p.His1151Asn)
c.3025C>A (p.His1009Asn)
1g.169541655A>CCA343117904F5c.3435T>G (p.Ser1145Arg)
c.3450T>G (p.Ser1150Arg)
c.3024T>G (p.Ser1008Arg)
1g.169541655A>GCA421930412F5c.3435T>C (p.Ser1145=)
c.3450T>C (p.Ser1150=)
c.3024T>C (p.Ser1008=)
1g.169541655A>TCA343117906F5c.3435T>A (p.Ser1145Arg)
c.3450T>A (p.Ser1150Arg)
c.3024T>A (p.Ser1008Arg)
1g.169541656C>ACA343117907F5c.3434G>T (p.Ser1145Ile)
c.3449G>T (p.Ser1150Ile)
c.3023G>T (p.Ser1008Ile)
1g.169541656C>GCA343117909F5c.3434G>C (p.Ser1145Thr)
c.3449G>C (p.Ser1150Thr)
c.3023G>C (p.Ser1008Thr)
1g.169541656C>TCA343117910F5c.3434G>A (p.Ser1145Asn)
c.3449G>A (p.Ser1150Asn)
c.3023G>A (p.Ser1008Asn)
1g.169541657T>ACA343117911F5c.3433A>T (p.Ser1145Cys)
c.3448A>T (p.Ser1150Cys)
c.3022A>T (p.Ser1008Cys)
1g.169541657T>CCA343117912F5c.3433A>G (p.Ser1145Gly)
c.3448A>G (p.Ser1150Gly)
c.3022A>G (p.Ser1008Gly)
1g.169541657T>GCA343117914F5c.3433A>C (p.Ser1145Arg)
c.3448A>C (p.Ser1150Arg)
c.3022A>C (p.Ser1008Arg)
1g.169541658G>ACA421930416F5c.3432C>T (p.Pro1144=)
c.3447C>T (p.Pro1149=)
c.3021C>T (p.Pro1007=)
gnomAD v4
1g.169541658G>CCA421930418F5c.3432C>G (p.Pro1144=)
c.3447C>G (p.Pro1149=)
c.3021C>G (p.Pro1007=)
1g.169541658G>TCA421930420F5c.3432C>A (p.Pro1144=)
c.3447C>A (p.Pro1149=)
c.3021C>A (p.Pro1007=)
1g.169541659G>ACA32385313F5c.3431C>T (p.Pro1144Leu)
c.3446C>T (p.Pro1149Leu)
c.3020C>T (p.Pro1007Leu)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.169541659G>CCA343117917F5c.3431C>G (p.Pro1144Arg)
c.3446C>G (p.Pro1149Arg)
c.3020C>G (p.Pro1007Arg)
dbSNP gnomAD v4
1g.169541659G=CA1206132316F5c.3431C= (p.Pro1144=)
c.3446C= (p.Pro1149=)
c.3020C= (p.Pro1007=)
1g.169541659G>TCA343117918F5c.3431C>A (p.Pro1144His)
c.3446C>A (p.Pro1149His)
c.3020C>A (p.Pro1007His)
1g.169541660G>ACA1233912F5c.3430C>T (p.Pro1144Ser)
c.3445C>T (p.Pro1149Ser)
c.3019C>T (p.Pro1007Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169541660G>CCA343117920F5c.3430C>G (p.Pro1144Ala)
c.3445C>G (p.Pro1149Ala)
c.3019C>G (p.Pro1007Ala)
1g.169541660G=CA1206132319F5c.3430C= (p.Pro1144=)
c.3445C= (p.Pro1149=)
c.3019C= (p.Pro1007=)
1g.169541660G>TCA343117922F5c.3430C>A (p.Pro1144Thr)
c.3445C>A (p.Pro1149Thr)
c.3019C>A (p.Pro1007Thr)
1g.169541661G>ACA421930425F5c.3429C>T (p.Asp1143=)
c.3444C>T (p.Asp1148=)
c.3018C>T (p.Asp1006=)
gnomAD v4
1g.169541661G>CCA343117926F5c.3429C>G (p.Asp1143Glu)
c.3444C>G (p.Asp1148Glu)
c.3018C>G (p.Asp1006Glu)
1g.169541661G=CA1206132324F5c.3429C= (p.Asp1143=)
c.3444C= (p.Asp1148=)
c.3018C= (p.Asp1006=)
1g.169541661G>TCA343117924F5c.3429C>A (p.Asp1143Glu)
c.3444C>A (p.Asp1148Glu)
c.3018C>A (p.Asp1006Glu)
dbSNP gnomAD v2 gnomAD v4
1g.169541662T>ACA343117928F5c.3428A>T (p.Asp1143Val)
c.3443A>T (p.Asp1148Val)
c.3017A>T (p.Asp1006Val)
1g.169541662T>CCA343117934F5c.3428A>G (p.Asp1143Gly)
c.3443A>G (p.Asp1148Gly)
c.3017A>G (p.Asp1006Gly)
1g.169541662T>GCA343117936F5c.3428A>C (p.Asp1143Ala)
c.3443A>C (p.Asp1148Ala)
c.3017A>C (p.Asp1006Ala)
1g.169541663C>ACA343117937F5c.3427G>T (p.Asp1143Tyr)
c.3442G>T (p.Asp1148Tyr)
c.3016G>T (p.Asp1006Tyr)
1g.169541663C=CA1206132326F5c.3427G= (p.Asp1143=)
c.3442G= (p.Asp1148=)
c.3016G= (p.Asp1006=)
1g.169541663C>GCA343117939F5c.3427G>C (p.Asp1143His)
c.3442G>C (p.Asp1148His)
c.3016G>C (p.Asp1006His)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.169541663C>TCA343117941F5c.3427G>A (p.Asp1143Asn)
c.3442G>A (p.Asp1148Asn)
c.3016G>A (p.Asp1006Asn)
1g.169541664T>ACA421930429F5c.3426A>T (p.Ser1142=)
c.3441A>T (p.Ser1147=)
c.3015A>T (p.Ser1005=)
1g.169541664T>CCA421930431F5c.3426A>G (p.Ser1142=)
c.3441A>G (p.Ser1147=)
c.3015A>G (p.Ser1005=)
1g.169541664T>GCA421930433F5c.3426A>C (p.Ser1142=)
c.3441A>C (p.Ser1147=)
c.3015A>C (p.Ser1005=)
1g.169541665G>ACA343117947F5c.3425C>T (p.Ser1142Leu)
c.3440C>T (p.Ser1147Leu)
c.3014C>T (p.Ser1005Leu)
1g.169541665G>CCA343117946F5c.3425C>G (p.Ser1142Ter)
c.3440C>G (p.Ser1147Ter)
c.3014C>G (p.Ser1005Ter)
1g.169541665G>TCA343117944F5c.3425C>A (p.Ser1142Ter)
c.3440C>A (p.Ser1147Ter)
c.3014C>A (p.Ser1005Ter)
1g.169541666A>CCA343117949F5c.3424T>G (p.Ser1142Ala)
c.3439T>G (p.Ser1147Ala)
c.3013T>G (p.Ser1005Ala)
1g.169541666A>GCA343117951F5c.3424T>C (p.Ser1142Pro)
c.3439T>C (p.Ser1147Pro)
c.3013T>C (p.Ser1005Pro)
1g.169541666A>TCA343117953F5c.3424T>A (p.Ser1142Thr)
c.3439T>A (p.Ser1147Thr)
c.3013T>A (p.Ser1005Thr)
1g.169541667A>CCA421930438F5c.3423T>G (p.Thr1141=)
c.3438T>G (p.Thr1146=)
c.3012T>G (p.Thr1004=)
1g.169541667A>GCA421930437F5c.3423T>C (p.Thr1141=)
c.3438T>C (p.Thr1146=)
c.3012T>C (p.Thr1004=)
gnomAD v4
1g.169541667A>TCA421930436F5c.3423T>A (p.Thr1141=)
c.3438T>A (p.Thr1146=)
c.3012T>A (p.Thr1004=)
ClinVar
1g.169541668G>ACA1233913F5c.3422C>T (p.Thr1141Ile)
c.3437C>T (p.Thr1146Ile)
c.3011C>T (p.Thr1004Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.169541668G>CCA343117955F5c.3422C>G (p.Thr1141Ser)
c.3437C>G (p.Thr1146Ser)
c.3011C>G (p.Thr1004Ser)
1g.169541668G=CA1206132329F5c.3422C= (p.Thr1141=)
c.3437C= (p.Thr1146=)
c.3011C= (p.Thr1004=)
1g.169541668G>TCA343117956F5c.3422C>A (p.Thr1141Asn)
c.3437C>A (p.Thr1146Asn)
c.3011C>A (p.Thr1004Asn)
COSMIC
1g.169541669T>ACA1233914F5c.3421A>T (p.Thr1141Ser)
c.3436A>T (p.Thr1146Ser)
c.3010A>T (p.Thr1004Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.169541669T>CCA343117959F5c.3421A>G (p.Thr1141Ala)
c.3436A>G (p.Thr1146Ala)
c.3010A>G (p.Thr1004Ala)
1g.169541669T>GCA343117958F5c.3421A>C (p.Thr1141Pro)
c.3436A>C (p.Thr1146Pro)
c.3010A>C (p.Thr1004Pro)
1g.169541669T=CA1206132330F5c.3421A= (p.Thr1141=)
c.3436A= (p.Thr1146=)
c.3010A= (p.Thr1004=)
1g.169541670A>CCA421930443F5c.3420T>G (p.Ser1140=)
c.3435T>G (p.Ser1145=)
c.3009T>G (p.Ser1003=)
1g.169541670A>GCA421930442F5c.3420T>C (p.Ser1140=)
c.3435T>C (p.Ser1145=)
c.3009T>C (p.Ser1003=)
1g.169541670A>TCA421930441F5c.3420T>A (p.Ser1140=)
c.3435T>A (p.Ser1145=)
c.3009T>A (p.Ser1003=)
1g.169541671G>ACA343117962F5c.3419C>T (p.Ser1140Phe)
c.3434C>T (p.Ser1145Phe)
c.3008C>T (p.Ser1003Phe)
gnomAD v4
1g.169541671G>CCA343117964F5c.3419C>G (p.Ser1140Cys)
c.3434C>G (p.Ser1145Cys)
c.3008C>G (p.Ser1003Cys)
gnomAD v4
1g.169541671G>TCA343117968F5c.3419C>A (p.Ser1140Tyr)
c.3434C>A (p.Ser1145Tyr)
c.3008C>A (p.Ser1003Tyr)
1g.169541672A>CCA343117970F5c.3418T>G (p.Ser1140Ala)
c.3433T>G (p.Ser1145Ala)
c.3007T>G (p.Ser1003Ala)
gnomAD v4
1g.169541672A>GCA343117972F5c.3418T>C (p.Ser1140Pro)
c.3433T>C (p.Ser1145Pro)
c.3007T>C (p.Ser1003Pro)
gnomAD v4
1g.169541672A>TCA343117973F5c.3418T>A (p.Ser1140Thr)
c.3433T>A (p.Ser1145Thr)
c.3007T>A (p.Ser1003Thr)
1g.169541673G>ACA421930449F5c.3417C>T (p.His1139=)
c.3432C>T (p.His1144=)
c.3006C>T (p.His1002=)
1g.169541673G>CCA343117978F5c.3417C>G (p.His1139Gln)
c.3432C>G (p.His1144Gln)
c.3006C>G (p.His1002Gln)
1g.169541673G>TCA343117975F5c.3417C>A (p.His1139Gln)
c.3432C>A (p.His1144Gln)
c.3006C>A (p.His1002Gln)
1g.169541674T>ACA343117979F5c.3416A>T (p.His1139Leu)
c.3431A>T (p.His1144Leu)
c.3005A>T (p.His1002Leu)
1g.169541674T>CCA343117981F5c.3416A>G (p.His1139Arg)
c.3431A>G (p.His1144Arg)
c.3005A>G (p.His1002Arg)
gnomAD v4
1g.169541674T>GCA343117983F5c.3416A>C (p.His1139Pro)
c.3431A>C (p.His1144Pro)
c.3005A>C (p.His1002Pro)
1g.169541675G>ACA343117985F5c.3415C>T (p.His1139Tyr)
c.3430C>T (p.His1144Tyr)
c.3004C>T (p.His1002Tyr)
gnomAD v4
1g.169541675G>CCA343117987F5c.3415C>G (p.His1139Asp)
c.3430C>G (p.His1144Asp)
c.3004C>G (p.His1002Asp)
1g.169541675G>TCA343117989F5c.3415C>A (p.His1139Asn)
c.3430C>A (p.His1144Asn)
c.3004C>A (p.His1002Asn)
1g.169541676C>ACA343117999F5c.3414G>T (p.Met1138Ile)
c.3429G>T (p.Met1143Ile)
c.3003G>T (p.Met1001Ile)
1g.169541676C>GCA343118003F5c.3414G>C (p.Met1138Ile)
c.3429G>C (p.Met1143Ile)
c.3003G>C (p.Met1001Ile)
1g.169541676C>TCA343118000F5c.3414G>A (p.Met1138Ile)
c.3429G>A (p.Met1143Ile)
c.3003G>A (p.Met1001Ile)
COSMIC
1g.169541677A=CA1206132332F5c.3413T= (p.Met1138=)
c.3428T= (p.Met1143=)
c.3002T= (p.Met1001=)
1g.169541677A>CCA343118005F5c.3413T>G (p.Met1138Arg)
c.3428T>G (p.Met1143Arg)
c.3002T>G (p.Met1001Arg)
dbSNP gnomAD v3 gnomAD v4
1g.169541677A>GCA343118006F5c.3413T>C (p.Met1138Thr)
c.3428T>C (p.Met1143Thr)
c.3002T>C (p.Met1001Thr)
1g.169541677A>TCA343118008F5c.3413T>A (p.Met1138Lys)
c.3428T>A (p.Met1143Lys)
c.3002T>A (p.Met1001Lys)
1g.169541678T>ACA343118010F5c.3412A>T (p.Met1138Leu)
c.3427A>T (p.Met1143Leu)
c.3001A>T (p.Met1001Leu)
1g.169541678T>CCA343118011F5c.3412A>G (p.Met1138Val)
c.3427A>G (p.Met1143Val)
c.3001A>G (p.Met1001Val)
1g.169541678T>GCA343118012F5c.3412A>C (p.Met1138Leu)
c.3427A>C (p.Met1143Leu)
c.3001A>C (p.Met1001Leu)
1g.169541679T>ACA343118013F5c.3411A>T (p.Gln1137His)
c.3426A>T (p.Gln1142His)
c.3000A>T (p.Gln1000His)
1g.169541679T>CCA421930455F5c.3411A>G (p.Gln1137=)
c.3426A>G (p.Gln1142=)
c.3000A>G (p.Gln1000=)
1g.169541679T>GCA343118014F5c.3411A>C (p.Gln1137His)
c.3426A>C (p.Gln1142His)
c.3000A>C (p.Gln1000His)
1g.169541680T>ACA343118016F5c.3410A>T (p.Gln1137Leu)
c.3425A>T (p.Gln1142Leu)
c.2999A>T (p.Gln1000Leu)
1g.169541680T>CCA343118018F5c.3410A>G (p.Gln1137Arg)
c.3425A>G (p.Gln1142Arg)
c.2999A>G (p.Gln1000Arg)
1g.169541680T>GCA343118020F5c.3410A>C (p.Gln1137Pro)
c.3425A>C (p.Gln1142Pro)
c.2999A>C (p.Gln1000Pro)
dbSNP gnomAD v4
1g.169541680T=CA1206132334F5c.3410A= (p.Gln1137=)
c.3425A= (p.Gln1142=)
c.2999A= (p.Gln1000=)
1g.169541681G>ACA343118022F5c.3409C>T (p.Gln1137Ter)
c.3424C>T (p.Gln1142Ter)
c.2998C>T (p.Gln1000Ter)
1g.169541681G>CCA343118025F5c.3409C>G (p.Gln1137Glu)
c.3424C>G (p.Gln1142Glu)
c.2998C>G (p.Gln1000Glu)
1g.169541681G>TCA343118023F5c.3409C>A (p.Gln1137Lys)
c.3424C>A (p.Gln1142Lys)
c.2998C>A (p.Gln1000Lys)
1g.169541682A=CA1148237929F5c.3408T= (p.Asp1136=)
c.3423T= (p.Asp1141=)
c.2997T= (p.Asp999=)
1g.169541682A>CCA343118026F5c.3408T>G (p.Asp1136Glu)
c.3423T>G (p.Asp1141Glu)
c.2997T>G (p.Asp999Glu)
1g.169541682A>GCA1233915F5c.3408T>C (p.Asp1136=)
c.3423T>C (p.Asp1141=)
c.2997T>C (p.Asp999=)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.169541682A>TCA343118028F5c.3408T>A (p.Asp1136Glu)
c.3423T>A (p.Asp1141Glu)
c.2997T>A (p.Asp999Glu)
1g.169541683T>ACA343118044F5c.3407A>T (p.Asp1136Val)
c.3422A>T (p.Asp1141Val)
c.2996A>T (p.Asp999Val)
1g.169541683T>CCA343118046F5c.3407A>G (p.Asp1136Gly)
c.3422A>G (p.Asp1141Gly)
c.2996A>G (p.Asp999Gly)
1g.169541683T>GCA343118049F5c.3407A>C (p.Asp1136Ala)
c.3422A>C (p.Asp1141Ala)
c.2996A>C (p.Asp999Ala)
1g.169541684C>ACA343118052F5c.3406G>T (p.Asp1136Tyr)
c.3421G>T (p.Asp1141Tyr)
c.2995G>T (p.Asp999Tyr)
1g.169541684C>GCA343118054F5c.3406G>C (p.Asp1136His)
c.3421G>C (p.Asp1141His)
c.2995G>C (p.Asp999His)
1g.169541684C>TCA343118065F5c.3406G>A (p.Asp1136Asn)
c.3421G>A (p.Asp1141Asn)
c.2995G>A (p.Asp999Asn)
1g.169541685A>CCA421930463F5c.3405T>G (p.Pro1135=)
c.3420T>G (p.Pro1140=)
c.2994T>G (p.Pro998=)
1g.169541685A>GCA421930464F5c.3405T>C (p.Pro1135=)
c.3420T>C (p.Pro1140=)
c.2994T>C (p.Pro998=)
1g.169541685A>TCA421930465F5c.3405T>A (p.Pro1135=)
c.3420T>A (p.Pro1140=)
c.2994T>A (p.Pro998=)
1g.169541686G>ACA343118068F5c.3404C>T (p.Pro1135Leu)
c.3419C>T (p.Pro1140Leu)
c.2993C>T (p.Pro998Leu)
1g.169541686G>CCA343118071F5c.3404C>G (p.Pro1135Arg)
c.3419C>G (p.Pro1140Arg)
c.2993C>G (p.Pro998Arg)
1g.169541686G>TCA343118074F5c.3404C>A (p.Pro1135His)
c.3419C>A (p.Pro1140His)
c.2993C>A (p.Pro998His)
1g.169541687G>ACA343118079F5c.3403C>T (p.Pro1135Ser)
c.3418C>T (p.Pro1140Ser)
c.2992C>T (p.Pro998Ser)
1g.169541687G>CCA1233916F5c.3403C>G (p.Pro1135Ala)
c.3418C>G (p.Pro1140Ala)
c.2992C>G (p.Pro998Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169541687G=CA1142328043F5c.3403C= (p.Pro1135=)
c.3418C= (p.Pro1140=)
c.2992C= (p.Pro998=)
1g.169541687G>TCA343118084F5c.3403C>A (p.Pro1135Thr)
c.3418C>A (p.Pro1140Thr)
c.2992C>A (p.Pro998Thr)
1g.169541688G>ACA421930472F5c.3402C>T (p.Asp1134=)
c.3417C>T (p.Asp1139=)
c.2991C>T (p.Asp997=)
dbSNP gnomAD v4
1g.169541688G>CCA343118086F5c.3402C>G (p.Asp1134Glu)
c.3417C>G (p.Asp1139Glu)
c.2991C>G (p.Asp997Glu)
1g.169541688G=CA1143958547F5c.3402C= (p.Asp1134=)
c.3417C= (p.Asp1139=)
c.2991C= (p.Asp997=)
1g.169541688G>TCA1233917F5c.3402C>A (p.Asp1134Glu)
c.3417C>A (p.Asp1139Glu)
c.2991C>A (p.Asp997Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169541689T>ACA343118091F5c.3401A>T (p.Asp1134Val)
c.3416A>T (p.Asp1139Val)
c.2990A>T (p.Asp997Val)
1g.169541689T>CCA343118094F5c.3401A>G (p.Asp1134Gly)
c.3416A>G (p.Asp1139Gly)
c.2990A>G (p.Asp997Gly)
1g.169541689T>GCA1233918F5c.3401A>C (p.Asp1134Ala)
c.3416A>C (p.Asp1139Ala)
c.2990A>C (p.Asp997Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.169541689T=CA1148899195F5c.3401A= (p.Asp1134=)
c.3416A= (p.Asp1139=)
c.2990A= (p.Asp997=)
1g.169541690C>ACA343118100F5c.3400G>T (p.Asp1134Tyr)
c.3415G>T (p.Asp1139Tyr)
c.2989G>T (p.Asp997Tyr)
1g.169541690C>GCA343118103F5c.3400G>C (p.Asp1134His)
c.3415G>C (p.Asp1139His)
c.2989G>C (p.Asp997His)
1g.169541690C>TCA343118105F5c.3400G>A (p.Asp1134Asn)
c.3415G>A (p.Asp1139Asn)
c.2989G>A (p.Asp997Asn)
1g.169541690_169541705delinsCTTGAATGGGGAATGTCA1206132350F5c.3385_3400delinsACATTCCCCATTCAAG (p.Thr1129=)
c.3400_3415delinsACATTCCCCATTCAAG (p.Thr1134=)
c.2974_2989delinsACATTCCCCATTCAAG (p.Thr992=)
1g.169541691T>ACA343118108F5c.3399A>T (p.Gln1133His)
c.3414A>T (p.Gln1138His)
c.2988A>T (p.Gln996His)
1g.169541691T>CCA421930475F5c.3399A>G (p.Gln1133=)
c.3414A>G (p.Gln1138=)
c.2988A>G (p.Gln996=)
1g.169541691T>GCA343118111F5c.3399A>C (p.Gln1133His)
c.3414A>C (p.Gln1138His)
c.2988A>C (p.Gln996His)
1g.169541695_169541709delCA1206132352F5c.3385_3399del (p.Thr1129_Gln1133del)
c.3400_3414del (p.Thr1134_Gln1138del)
c.2974_2988del (p.Thr992_Gln996del)
dbSNP
1g.169541692T>ACA343118114F5c.3398A>T (p.Gln1133Leu)
c.3413A>T (p.Gln1138Leu)
c.2987A>T (p.Gln996Leu)
1g.169541692T>CCA343118116F5c.3398A>G (p.Gln1133Arg)
c.3413A>G (p.Gln1138Arg)
c.2987A>G (p.Gln996Arg)
1g.169541692T>GCA343118117F5c.3398A>C (p.Gln1133Pro)
c.3413A>C (p.Gln1138Pro)
c.2987A>C (p.Gln996Pro)
gnomAD v4
1g.169541693G>ACA343118121F5c.3397C>T (p.Gln1133Ter)
c.3412C>T (p.Gln1138Ter)
c.2986C>T (p.Gln996Ter)
1g.169541693G>CCA343118123F5c.3397C>G (p.Gln1133Glu)
c.3412C>G (p.Gln1138Glu)
c.2986C>G (p.Gln996Glu)
1g.169541693G>TCA343118119F5c.3397C>A (p.Gln1133Lys)
c.3412C>A (p.Gln1138Lys)
c.2986C>A (p.Gln996Lys)
1g.169541694A>CCA343118126F5c.3396T>G (p.Ile1132Met)
c.3411T>G (p.Ile1137Met)
c.2985T>G (p.Ile995Met)
1g.169541694A>GCA421930479F5c.3396T>C (p.Ile1132=)
c.3411T>C (p.Ile1137=)
c.2985T>C (p.Ile995=)
1g.169541694A>TCA421930481F5c.3396T>A (p.Ile1132=)
c.3411T>A (p.Ile1137=)
c.2985T>A (p.Ile995=)
1g.169541695A=CA1206132355F5c.3395T= (p.Ile1132=)
c.3410T= (p.Ile1137=)
c.2984T= (p.Ile995=)
1g.169541695A>CCA343118128F5c.3395T>G (p.Ile1132Ser)
c.3410T>G (p.Ile1137Ser)
c.2984T>G (p.Ile995Ser)
1g.169541695A>GCA1233919F5c.3395T>C (p.Ile1132Thr)
c.3410T>C (p.Ile1137Thr)
c.2984T>C (p.Ile995Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.169541695A>TCA343118130F5c.3395T>A (p.Ile1132Asn)
c.3410T>A (p.Ile1137Asn)
c.2984T>A (p.Ile995Asn)
1g.169541696T>ACA343118134F5c.3394A>T (p.Ile1132Phe)
c.3409A>T (p.Ile1137Phe)
c.2983A>T (p.Ile995Phe)
1g.169541696T>CCA343118136F5c.3394A>G (p.Ile1132Val)
c.3409A>G (p.Ile1137Val)
c.2983A>G (p.Ile995Val)
dbSNP
1g.169541696T>GCA343118139F5c.3394A>C (p.Ile1132Leu)
c.3409A>C (p.Ile1137Leu)
c.2983A>C (p.Ile995Leu)
1g.169541696T=CA1206132358F5c.3394A= (p.Ile1132=)
c.3409A= (p.Ile1137=)
c.2983A= (p.Ile995=)
1g.169541697G>ACA421930484F5c.3393C>T (p.Pro1131=)
c.3408C>T (p.Pro1136=)
c.2982C>T (p.Pro994=)
1g.169541697G>CCA421930485F5c.3393C>G (p.Pro1131=)
c.3408C>G (p.Pro1136=)
c.2982C>G (p.Pro994=)
1g.169541697G>TCA421930486F5c.3393C>A (p.Pro1131=)
c.3408C>A (p.Pro1136=)
c.2982C>A (p.Pro994=)
1g.169541698G>ACA343118142F5c.3392C>T (p.Pro1131Leu)
c.3407C>T (p.Pro1136Leu)
c.2981C>T (p.Pro994Leu)
1g.169541698G>CCA1233920F5c.3392C>G (p.Pro1131Arg)
c.3407C>G (p.Pro1136Arg)
c.2981C>G (p.Pro994Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.169541698G=CA1206132360F5c.3392C= (p.Pro1131=)
c.3407C= (p.Pro1136=)
c.2981C= (p.Pro994=)
1g.169541698G>TCA343118146F5c.3392C>A (p.Pro1131His)
c.3407C>A (p.Pro1136His)
c.2981C>A (p.Pro994His)
1g.169541699G>ACA1233921F5c.3391C>T (p.Pro1131Ser)
c.3406C>T (p.Pro1136Ser)
c.2980C>T (p.Pro994Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169541699G>CCA343118151F5c.3391C>G (p.Pro1131Ala)
c.3406C>G (p.Pro1136Ala)
c.2980C>G (p.Pro994Ala)
1g.169541699G=CA1143804105F5c.3391C= (p.Pro1131=)
c.3406C= (p.Pro1136=)
c.2980C= (p.Pro994=)
1g.169541699G>TCA343118153F5c.3391C>A (p.Pro1131Thr)
c.3406C>A (p.Pro1136Thr)
c.2980C>A (p.Pro994Thr)
1g.169541700G>ACA421930491F5c.3390C>T (p.Phe1130=)
c.3405C>T (p.Phe1135=)
c.2979C>T (p.Phe993=)
dbSNP gnomAD v2 gnomAD v4
1g.169541700G>CCA343118159F5c.3390C>G (p.Phe1130Leu)
c.3405C>G (p.Phe1135Leu)
c.2979C>G (p.Phe993Leu)
1g.169541700G=CA1206132363F5c.3390C= (p.Phe1130=)
c.3405C= (p.Phe1135=)
c.2979C= (p.Phe993=)
1g.169541700G>TCA343118156F5c.3390C>A (p.Phe1130Leu)
c.3405C>A (p.Phe1135Leu)
c.2979C>A (p.Phe993Leu)
1g.169541701A>CCA343118162F5c.3389T>G (p.Phe1130Cys)
c.3404T>G (p.Phe1135Cys)
c.2978T>G (p.Phe993Cys)
1g.169541701A>GCA343118163F5c.3389T>C (p.Phe1130Ser)
c.3404T>C (p.Phe1135Ser)
c.2978T>C (p.Phe993Ser)
1g.169541701A>TCA343118166F5c.3389T>A (p.Phe1130Tyr)
c.3404T>A (p.Phe1135Tyr)
c.2978T>A (p.Phe993Tyr)
gnomAD v4
1g.169541702A>CCA343118168F5c.3388T>G (p.Phe1130Val)
c.3403T>G (p.Phe1135Val)
c.2977T>G (p.Phe993Val)
1g.169541702A>GCA343118170F5c.3388T>C (p.Phe1130Leu)
c.3403T>C (p.Phe1135Leu)
c.2977T>C (p.Phe993Leu)
1g.169541702A>TCA343118173F5c.3388T>A (p.Phe1130Ile)
c.3403T>A (p.Phe1135Ile)
c.2977T>A (p.Phe993Ile)
1g.169541703T>ACA421930496F5c.3387A>T (p.Thr1129=)
c.3402A>T (p.Thr1134=)
c.2976A>T (p.Thr992=)
1g.169541703T>CCA421930495F5c.3387A>G (p.Thr1129=)
c.3402A>G (p.Thr1134=)
c.2976A>G (p.Thr992=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.169541703T>GCA421930494F5c.3387A>C (p.Thr1129=)
c.3402A>C (p.Thr1134=)
c.2976A>C (p.Thr992=)
ClinVar gnomAD v4
1g.169541703T=CA1206132367F5c.3387A= (p.Thr1129=)
c.3402A= (p.Thr1134=)
c.2976A= (p.Thr992=)
1g.169541704G>ACA343118181F5c.3386C>T (p.Thr1129Ile)
c.3401C>T (p.Thr1134Ile)
c.2975C>T (p.Thr992Ile)
gnomAD v4
1g.169541704G>CCA343118175F5c.3386C>G (p.Thr1129Arg)
c.3401C>G (p.Thr1134Arg)
c.2975C>G (p.Thr992Arg)
1g.169541704G>TCA343118178F5c.3386C>A (p.Thr1129Lys)
c.3401C>A (p.Thr1134Lys)
c.2975C>A (p.Thr992Lys)
1g.169541705T>ACA343118183F5c.3385A>T (p.Thr1129Ser)
c.3400A>T (p.Thr1134Ser)
c.2974A>T (p.Thr992Ser)
dbSNP gnomAD v3 gnomAD v4
1g.169541705T>CCA343118185F5c.3385A>G (p.Thr1129Ala)
c.3400A>G (p.Thr1134Ala)
c.2974A>G (p.Thr992Ala)
dbSNP
1g.169541705T>GCA343118186F5c.3385A>C (p.Thr1129Pro)
c.3400A>C (p.Thr1134Pro)
c.2974A>C (p.Thr992Pro)
1g.169541705T=CA1206132371F5c.3385A= (p.Thr1129=)
c.3400A= (p.Thr1134=)
c.2974A= (p.Thr992=)
1g.169541706T>ACA343118191F5c.3384A>T (p.Gln1128His)
c.3399A>T (p.Gln1133His)
c.2973A>T (p.Gln991His)
1g.169541706T>CCA1233922F5c.3384A>G (p.Gln1128=)
c.3399A>G (p.Gln1133=)
c.2973A>G (p.Gln991=)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.169541706T>GCA343118194F5c.3384A>C (p.Gln1128His)
c.3399A>C (p.Gln1133His)
c.2973A>C (p.Gln991His)
1g.169541706T=CA1206132374F5c.3384A= (p.Gln1128=)
c.3399A= (p.Gln1133=)
c.2973A= (p.Gln991=)
1g.169541707T>ACA343118200F5c.3383A>T (p.Gln1128Leu)
c.3398A>T (p.Gln1133Leu)
c.2972A>T (p.Gln991Leu)
1g.169541707T>CCA343118202F5c.3383A>G (p.Gln1128Arg)
c.3398A>G (p.Gln1133Arg)
c.2972A>G (p.Gln991Arg)
1g.169541707T>GCA343118197F5c.3383A>C (p.Gln1128Pro)
c.3398A>C (p.Gln1133Pro)
c.2972A>C (p.Gln991Pro)
1g.169541708G>ACA343118204F5c.3382C>T (p.Gln1128Ter)
c.3397C>T (p.Gln1133Ter)
c.2971C>T (p.Gln991Ter)
gnomAD v4 COSMIC
1g.169541708G>CCA343118203F5c.3382C>G (p.Gln1128Glu)
c.3397C>G (p.Gln1133Glu)
c.2971C>G (p.Gln991Glu)
1g.169541708G>TCA343118205F5c.3382C>A (p.Gln1128Lys)
c.3397C>A (p.Gln1133Lys)
c.2971C>A (p.Gln991Lys)
COSMIC
1g.169541709A>CCA343118207F5c.3381T>G (p.Tyr1127Ter)
c.3396T>G (p.Tyr1132Ter)
c.2970T>G (p.Tyr990Ter)
1g.169541709A>GCA421930500F5c.3381T>C (p.Tyr1127=)
c.3396T>C (p.Tyr1132=)
c.2970T>C (p.Tyr990=)
gnomAD v4
1g.169541709A>TCA343118208F5c.3381T>A (p.Tyr1127Ter)
c.3396T>A (p.Tyr1132Ter)
c.2970T>A (p.Tyr990Ter)
1g.169541710T>ACA343118210F5c.3380A>T (p.Tyr1127Phe)
c.3395A>T (p.Tyr1132Phe)
c.2969A>T (p.Tyr990Phe)
1g.169541710T>CCA343118216F5c.3380A>G (p.Tyr1127Cys)
c.3395A>G (p.Tyr1132Cys)
c.2969A>G (p.Tyr990Cys)
dbSNP gnomAD v2 gnomAD v4
1g.169541710T>GCA343118213F5c.3380A>C (p.Tyr1127Ser)
c.3395A>C (p.Tyr1132Ser)
c.2969A>C (p.Tyr990Ser)
1g.169541710T=CA1206132378F5c.3380A= (p.Tyr1127=)
c.3395A= (p.Tyr1132=)
c.2969A= (p.Tyr990=)
1g.169541711A>CCA343118217F5c.3379T>G (p.Tyr1127Asp)
c.3394T>G (p.Tyr1132Asp)
c.2968T>G (p.Tyr990Asp)
1g.169541711A>GCA343118221F5c.3379T>C (p.Tyr1127His)
c.3394T>C (p.Tyr1132His)
c.2968T>C (p.Tyr990His)
gnomAD v4
1g.169541711A>TCA343118218F5c.3379T>A (p.Tyr1127Asn)
c.3394T>A (p.Tyr1132Asn)
c.2968T>A (p.Tyr990Asn)
1g.169541712G>ACA421930504F5c.3378C>T (p.His1126=)
c.3393C>T (p.His1131=)
c.2967C>T (p.His989=)
1g.169541712G>CCA343118224F5c.3378C>G (p.His1126Gln)
c.3393C>G (p.His1131Gln)
c.2967C>G (p.His989Gln)
1g.169541712G>TCA343118227F5c.3378C>A (p.His1126Gln)
c.3393C>A (p.His1131Gln)
c.2967C>A (p.His989Gln)
1g.169541713T>ACA343118229F5c.3377A>T (p.His1126Leu)
c.3392A>T (p.His1131Leu)
c.2966A>T (p.His989Leu)
1g.169541713T>CCA343118231F5c.3377A>G (p.His1126Arg)
c.3392A>G (p.His1131Arg)
c.2966A>G (p.His989Arg)
1g.169541713T>GCA343118234F5c.3377A>C (p.His1126Pro)
c.3392A>C (p.His1131Pro)
c.2966A>C (p.His989Pro)
1g.169541714G>ACA343118237F5c.3376C>T (p.His1126Tyr)
c.3391C>T (p.His1131Tyr)
c.2965C>T (p.His989Tyr)
1g.169541714G>CCA343118240F5c.3376C>G (p.His1126Asp)
c.3391C>G (p.His1131Asp)
c.2965C>G (p.His989Asp)
1g.169541714G>TCA343118242F5c.3376C>A (p.His1126Asn)
c.3391C>A (p.His1131Asn)
c.2965C>A (p.His989Asn)
1g.169541715T>ACA343118246F5c.3375A>T (p.Glu1125Asp)
c.3390A>T (p.Glu1130Asp)
c.2964A>T (p.Glu988Asp)
1g.169541715T>CCA421930511F5c.3375A>G (p.Glu1125=)
c.3390A>G (p.Glu1130=)
c.2964A>G (p.Glu988=)
COSMIC
1g.169541715T>GCA343118249F5c.3375A>C (p.Glu1125Asp)
c.3390A>C (p.Glu1130Asp)
c.2964A>C (p.Glu988Asp)
1g.169541716T>ACA343118257F5c.3374A>T (p.Glu1125Val)
c.3389A>T (p.Glu1130Val)
c.2963A>T (p.Glu988Val)
1g.169541716T>CCA343118255F5c.3374A>G (p.Glu1125Gly)
c.3389A>G (p.Glu1130Gly)
c.2963A>G (p.Glu988Gly)
dbSNP gnomAD v2 gnomAD v4
1g.169541716T>GCA343118252F5c.3374A>C (p.Glu1125Ala)
c.3389A>C (p.Glu1130Ala)
c.2963A>C (p.Glu988Ala)
1g.169541716T=CA1206132380F5c.3374A= (p.Glu1125=)
c.3389A= (p.Glu1130=)
c.2963A= (p.Glu988=)
1g.169541717C>ACA343118259F5c.3373G>T (p.Glu1125Ter)
c.3388G>T (p.Glu1130Ter)
c.2962G>T (p.Glu988Ter)
1g.169541717C>GCA343118262F5c.3373G>C (p.Glu1125Gln)
c.3388G>C (p.Glu1130Gln)
c.2962G>C (p.Glu988Gln)
1g.169541717C>TCA343118265F5c.3373G>A (p.Glu1125Lys)
c.3388G>A (p.Glu1130Lys)
c.2962G>A (p.Glu988Lys)
1g.169541718C>ACA343118267F5c.3372G>T (p.Glu1124Asp)
c.3387G>T (p.Glu1129Asp)
c.2961G>T (p.Glu987Asp)
1g.169541718C>GCA343118269F5c.3372G>C (p.Glu1124Asp)
c.3387G>C (p.Glu1129Asp)
c.2961G>C (p.Glu987Asp)
1g.169541718C>TCA421930514F5c.3372G>A (p.Glu1124=)
c.3387G>A (p.Glu1129=)
c.2961G>A (p.Glu987=)
1g.169541719T>ACA343118271F5c.3371A>T (p.Glu1124Val)
c.3386A>T (p.Glu1129Val)
c.2960A>T (p.Glu987Val)
1g.169541719T>CCA343118273F5c.3371A>G (p.Glu1124Gly)
c.3386A>G (p.Glu1129Gly)
c.2960A>G (p.Glu987Gly)
1g.169541719T>GCA343118276F5c.3371A>C (p.Glu1124Ala)
c.3386A>C (p.Glu1129Ala)
c.2960A>C (p.Glu987Ala)
1g.169541720C>ACA343118279F5c.3370G>T (p.Glu1124Ter)
c.3385G>T (p.Glu1129Ter)
c.2959G>T (p.Glu987Ter)
1g.169541720C>GCA343118281F5c.3370G>C (p.Glu1124Gln)
c.3385G>C (p.Glu1129Gln)
c.2959G>C (p.Glu987Gln)
dbSNP
1g.169541720C>TCA343118285F5c.3370G>A (p.Glu1124Lys)
c.3385G>A (p.Glu1129Lys)
c.2959G>A (p.Glu987Lys)
1g.169541721T>ACA421930519F5c.3369A>T (p.Pro1123=)
c.3384A>T (p.Pro1128=)
c.2958A>T (p.Pro986=)
1g.169541721T>CCA421930521F5c.3369A>G (p.Pro1123=)
c.3384A>G (p.Pro1128=)
c.2958A>G (p.Pro986=)
gnomAD v4
1g.169541721T>GCA421930522F5c.3369A>C (p.Pro1123=)
c.3384A>C (p.Pro1128=)
c.2958A>C (p.Pro986=)
gnomAD v4
1g.169541722G>ACA1233924F5c.3368C>T (p.Pro1123Leu)
c.3383C>T (p.Pro1128Leu)
c.2957C>T (p.Pro986Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169541722G>CCA1233923F5c.3368C>G (p.Pro1123Arg)
c.3383C>G (p.Pro1128Arg)
c.2957C>G (p.Pro986Arg)
dbSNP ExAC gnomAD v2
1g.169541722G=CA1206132383F5c.3368C= (p.Pro1123=)
c.3383C= (p.Pro1128=)
c.2957C= (p.Pro986=)
1g.169541722G>TCA343118288F5c.3368C>A (p.Pro1123Gln)
c.3383C>A (p.Pro1128Gln)
c.2957C>A (p.Pro986Gln)
1g.169541723G>ACA343118294F5c.3367C>T (p.Pro1123Ser)
c.3382C>T (p.Pro1128Ser)
c.2956C>T (p.Pro986Ser)
dbSNP
1g.169541723G>CCA343118297F5c.3367C>G (p.Pro1123Ala)
c.3382C>G (p.Pro1128Ala)
c.2956C>G (p.Pro986Ala)
dbSNP gnomAD v3 gnomAD v4
1g.169541723G=CA1206132386F5c.3367C= (p.Pro1123=)
c.3382C= (p.Pro1128=)
c.2956C= (p.Pro986=)
1g.169541723G>TCA343118301F5c.3367C>A (p.Pro1123Thr)
c.3382C>A (p.Pro1128Thr)
c.2956C>A (p.Pro986Thr)
1g.169541724G>ACA421930525F5c.3366C>T (p.Pro1122=)
c.3381C>T (p.Pro1127=)
c.2955C>T (p.Pro985=)
dbSNP gnomAD v3 gnomAD v4
1g.169541724G>CCA421930526F5c.3366C>G (p.Pro1122=)
c.3381C>G (p.Pro1127=)
c.2955C>G (p.Pro985=)
1g.169541724G=CA1206132388F5c.3366C= (p.Pro1122=)
c.3381C= (p.Pro1127=)
c.2955C= (p.Pro985=)
1g.169541724G>TCA1233925F5c.3366C>A (p.Pro1122=)
c.3381C>A (p.Pro1127=)
c.2955C>A (p.Pro985=)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.169541725G>ACA1233926F5c.3365C>T (p.Pro1122Leu)
c.3380C>T (p.Pro1127Leu)
c.2954C>T (p.Pro985Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.169541725G>CCA343118307F5c.3365C>G (p.Pro1122Arg)
c.3380C>G (p.Pro1127Arg)
c.2954C>G (p.Pro985Arg)
gnomAD v4
1g.169541725G=CA1206132390F5c.3365C= (p.Pro1122=)
c.3380C= (p.Pro1127=)
c.2954C= (p.Pro985=)
1g.169541725G>TCA343118305F5c.3365C>A (p.Pro1122His)
c.3380C>A (p.Pro1127His)
c.2954C>A (p.Pro985His)
ClinVar dbSNP gnomAD v2 gnomAD v4
1g.169541726G>ACA1233927F5c.3364C>T (p.Pro1122Ser)
c.3379C>T (p.Pro1127Ser)
c.2953C>T (p.Pro985Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169541726G>CCA343118313F5c.3364C>G (p.Pro1122Ala)
c.3379C>G (p.Pro1127Ala)
c.2953C>G (p.Pro985Ala)
1g.169541726G=CA1142762155F5c.3364C= (p.Pro1122=)
c.3379C= (p.Pro1127=)
c.2953C= (p.Pro985=)
1g.169541726G>TCA343118315F5c.3364C>A (p.Pro1122Thr)
c.3379C>A (p.Pro1127Thr)
c.2953C>A (p.Pro985Thr)
1g.169541727C>ACA32385330F5c.3363G>T (p.Val1121=)
c.3378G>T (p.Val1126=)
c.2952G>T (p.Val984=)
dbSNP gnomAD v4
1g.169541727C=CA1206132396F5c.3363G= (p.Val1121=)
c.3378G= (p.Val1126=)
c.2952G= (p.Val984=)
1g.169541727C>GCA421930531F5c.3363G>C (p.Val1121=)
c.3378G>C (p.Val1126=)
c.2952G>C (p.Val984=)
1g.169541727C>TCA421930530F5c.3363G>A (p.Val1121=)
c.3378G>A (p.Val1126=)
c.2952G>A (p.Val984=)
1g.169541728A>CCA343118319F5c.3362T>G (p.Val1121Gly)
c.3377T>G (p.Val1126Gly)
c.2951T>G (p.Val984Gly)
gnomAD v4
1g.169541728A>GCA343118320F5c.3362T>C (p.Val1121Ala)
c.3377T>C (p.Val1126Ala)
c.2951T>C (p.Val984Ala)
1g.169541728A>TCA343118324F5c.3362T>A (p.Val1121Glu)
c.3377T>A (p.Val1126Glu)
c.2951T>A (p.Val984Glu)
1g.169541729C>ACA343118325F5c.3361G>T (p.Val1121Leu)
c.3376G>T (p.Val1126Leu)
c.2950G>T (p.Val984Leu)
1g.169541729C=CA1206132400F5c.3361G= (p.Val1121=)
c.3376G= (p.Val1126=)
c.2950G= (p.Val984=)
1g.169541729C>GCA343118331F5c.3361G>C (p.Val1121Leu)
c.3376G>C (p.Val1126Leu)
c.2950G>C (p.Val984Leu)
ClinVar gnomAD v4
1g.169541729C>TCA343118327F5c.3361G>A (p.Val1121Met)
c.3376G>A (p.Val1126Met)
c.2950G>A (p.Val984Met)
dbSNP gnomAD v2 gnomAD v4
1g.169541730T>ACA421930538F5c.3360A>T (p.Thr1120=)
c.3375A>T (p.Thr1125=)
c.2949A>T (p.Thr983=)
1g.169541730T>CCA421930539F5c.3360A>G (p.Thr1120=)
c.3375A>G (p.Thr1125=)
c.2949A>G (p.Thr983=)
dbSNP gnomAD v2
1g.169541730T>GCA421930540F5c.3360A>C (p.Thr1120=)
c.3375A>C (p.Thr1125=)
c.2949A>C (p.Thr983=)
1g.169541730T=CA1206132402F5c.3360A= (p.Thr1120=)
c.3375A= (p.Thr1125=)
c.2949A= (p.Thr983=)
1g.169541731G>ACA1233928F5c.3359C>T (p.Thr1120Ile)
c.3374C>T (p.Thr1125Ile)
c.2948C>T (p.Thr983Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169541731G>CCA343118334F5c.3359C>G (p.Thr1120Arg)
c.3374C>G (p.Thr1125Arg)
c.2948C>G (p.Thr983Arg)
gnomAD v4
1g.169541731G=CA1206132405F5c.3359C= (p.Thr1120=)
c.3374C= (p.Thr1125=)
c.2948C= (p.Thr983=)
1g.169541731G>TCA343118336F5c.3359C>A (p.Thr1120Lys)
c.3374C>A (p.Thr1125Lys)
c.2948C>A (p.Thr983Lys)
1g.169541732T>ACA343118338F5c.3358A>T (p.Thr1120Ser)
c.3373A>T (p.Thr1125Ser)
c.2947A>T (p.Thr983Ser)
1g.169541732T>CCA343118341F5c.3358A>G (p.Thr1120Ala)
c.3373A>G (p.Thr1125Ala)
c.2947A>G (p.Thr983Ala)
gnomAD v4
1g.169541732T>GCA343118343F5c.3358A>C (p.Thr1120Pro)
c.3373A>C (p.Thr1125Pro)
c.2947A>C (p.Thr983Pro)
1g.169541733C>ACA343118346F5c.3357G>T (p.Gln1119His)
c.3372G>T (p.Gln1124His)
c.2946G>T (p.Gln982His)
1g.169541733C>GCA343118348F5c.3357G>C (p.Gln1119His)
c.3372G>C (p.Gln1124His)
c.2946G>C (p.Gln982His)
gnomAD v4
1g.169541733C>TCA421930543F5c.3357G>A (p.Gln1119=)
c.3372G>A (p.Gln1124=)
c.2946G>A (p.Gln982=)
1g.169541734T>ACA343118351F5c.3356A>T (p.Gln1119Leu)
c.3371A>T (p.Gln1124Leu)
c.2945A>T (p.Gln982Leu)
1g.169541734T>CCA343118354F5c.3356A>G (p.Gln1119Arg)
c.3371A>G (p.Gln1124Arg)
c.2945A>G (p.Gln982Arg)
1g.169541734T>GCA343118356F5c.3356A>C (p.Gln1119Pro)
c.3371A>C (p.Gln1124Pro)
c.2945A>C (p.Gln982Pro)
dbSNP
1g.169541734T=CA1206132407F5c.3356A= (p.Gln1119=)
c.3371A= (p.Gln1124=)
c.2945A= (p.Gln982=)
1g.169541735G>ACA343118366F5c.3355C>T (p.Gln1119Ter)
c.3370C>T (p.Gln1124Ter)
c.2944C>T (p.Gln982Ter)
COSMIC
1g.169541735G>CCA343118361F5c.3355C>G (p.Gln1119Glu)
c.3370C>G (p.Gln1124Glu)
c.2944C>G (p.Gln982Glu)
dbSNP gnomAD v2 gnomAD v4
1g.169541735G=CA1206132409F5c.3355C= (p.Gln1119=)
c.3370C= (p.Gln1124=)
c.2944C= (p.Gln982=)
1g.169541735G>TCA343118358F5c.3355C>A (p.Gln1119Lys)
c.3370C>A (p.Gln1124Lys)
c.2944C>A (p.Gln982Lys)
1g.169541736A>CCA343118369F5c.3354T>G (p.Tyr1118Ter)
c.3369T>G (p.Tyr1123Ter)
c.2943T>G (p.Tyr981Ter)
1g.169541736A>GCA421930545F5c.3354T>C (p.Tyr1118=)
c.3369T>C (p.Tyr1123=)
c.2943T>C (p.Tyr981=)
1g.169541736A>TCA343118371F5c.3354T>A (p.Tyr1118Ter)
c.3369T>A (p.Tyr1123Ter)
c.2943T>A (p.Tyr981Ter)
1g.169541737T>ACA343118374F5c.3353A>T (p.Tyr1118Phe)
c.3368A>T (p.Tyr1123Phe)
c.2942A>T (p.Tyr981Phe)
1g.169541737T>CCA343118375F5c.3353A>G (p.Tyr1118Cys)
c.3368A>G (p.Tyr1123Cys)
c.2942A>G (p.Tyr981Cys)
1g.169541737T>GCA343118376F5c.3353A>C (p.Tyr1118Ser)
c.3368A>C (p.Tyr1123Ser)
c.2942A>C (p.Tyr981Ser)
1g.169541738A>CCA343118377F5c.3352T>G (p.Tyr1118Asp)
c.3367T>G (p.Tyr1123Asp)
c.2941T>G (p.Tyr981Asp)
1g.169541738A>GCA343118378F5c.3352T>C (p.Tyr1118His)
c.3367T>C (p.Tyr1123His)
c.2941T>C (p.Tyr981His)
1g.169541738A>TCA343118379F5c.3352T>A (p.Tyr1118Asn)
c.3367T>A (p.Tyr1123Asn)
c.2941T>A (p.Tyr981Asn)
1g.169541740dupCA2649035352F5c.3352dup (p.Tyr1118LeufsTer19)
c.3367dup (p.Tyr1123LeufsTer19)
c.2941dup (p.Tyr981LeufsTer19)
gnomAD v4
1g.169541739A>CCA421930550F5c.3351T>G (p.Leu1117=)
c.3366T>G (p.Leu1122=)
c.2940T>G (p.Leu980=)
1g.169541739A>GCA421930552F5c.3351T>C (p.Leu1117=)
c.3366T>C (p.Leu1122=)
c.2940T>C (p.Leu980=)
1g.169541739A>TCA421930551F5c.3351T>A (p.Leu1117=)
c.3366T>A (p.Leu1122=)
c.2940T>A (p.Leu980=)
1g.169541740A>CCA343118381F5c.3350T>G (p.Leu1117Arg)
c.3365T>G (p.Leu1122Arg)
c.2939T>G (p.Leu980Arg)
1g.169541740A>GCA343118382F5c.3350T>C (p.Leu1117Pro)
c.3365T>C (p.Leu1122Pro)
c.2939T>C (p.Leu980Pro)
1g.169541740A>TCA343118384F5c.3350T>A (p.Leu1117His)
c.3365T>A (p.Leu1122His)
c.2939T>A (p.Leu980His)
1g.169541741G>ACA343118386F5c.3349C>T (p.Leu1117Phe)
c.3364C>T (p.Leu1122Phe)
c.2938C>T (p.Leu980Phe)
COSMIC
1g.169541741G>CCA343118392F5c.3349C>G (p.Leu1117Val)
c.3364C>G (p.Leu1122Val)
c.2938C>G (p.Leu980Val)
1g.169541741G>TCA343118395F5c.3349C>A (p.Leu1117Ile)
c.3364C>A (p.Leu1122Ile)
c.2938C>A (p.Leu980Ile)
dbSNP
1g.169541742A=CA1206132412F5c.3348T= (p.Gly1116=)
c.3363T= (p.Gly1121=)
c.2937T= (p.Gly979=)
1g.169541742A>CCA421930557F5c.3348T>G (p.Gly1116=)
c.3363T>G (p.Gly1121=)
c.2937T>G (p.Gly979=)
1g.169541742A>GCA421930559F5c.3348T>C (p.Gly1116=)
c.3363T>C (p.Gly1121=)
c.2937T>C (p.Gly979=)
1g.169541742A>TCA421930560F5c.3348T>A (p.Gly1116=)
c.3363T>A (p.Gly1121=)
c.2937T>A (p.Gly979=)
dbSNP gnomAD v2 gnomAD v4
1g.169541743C>ACA343118402F5c.3347G>T (p.Gly1116Val)
c.3362G>T (p.Gly1121Val)
c.2936G>T (p.Gly979Val)
dbSNP gnomAD v2 gnomAD v4
1g.169541743C=CA1206132415F5c.3347G= (p.Gly1116=)
c.3362G= (p.Gly1121=)
c.2936G= (p.Gly979=)
1g.169541743C>GCA343118401F5c.3347G>C (p.Gly1116Ala)
c.3362G>C (p.Gly1121Ala)
c.2936G>C (p.Gly979Ala)
1g.169541743C>TCA343118398F5c.3347G>A (p.Gly1116Asp)
c.3362G>A (p.Gly1121Asp)
c.2936G>A (p.Gly979Asp)
1g.169541744C>ACA343118405F5c.3346G>T (p.Gly1116Cys)
c.3361G>T (p.Gly1121Cys)
c.2935G>T (p.Gly979Cys)
1g.169541744C>GCA343118410F5c.3346G>C (p.Gly1116Arg)
c.3361G>C (p.Gly1121Arg)
c.2935G>C (p.Gly979Arg)
gnomAD v4
1g.169541744C>TCA343118412F5c.3346G>A (p.Gly1116Ser)
c.3361G>A (p.Gly1121Ser)
c.2935G>A (p.Gly979Ser)
1g.169541745T>ACA421930563F5c.3345A>T (p.Pro1115=)
c.3360A>T (p.Pro1120=)
c.2934A>T (p.Pro978=)
1g.169541745T>CCA32385333F5c.3345A>G (p.Pro1115=)
c.3360A>G (p.Pro1120=)
c.2934A>G (p.Pro978=)
dbSNP gnomAD v2 gnomAD v4
1g.169541745T>GCA421930564F5c.3345A>C (p.Pro1115=)
c.3360A>C (p.Pro1120=)
c.2934A>C (p.Pro978=)
1g.169541745T=CA1206132416F5c.3345A= (p.Pro1115=)
c.3360A= (p.Pro1120=)
c.2934A= (p.Pro978=)
1g.169541746G>ACA1233929F5c.3344C>T (p.Pro1115Leu)
c.3359C>T (p.Pro1120Leu)
c.2933C>T (p.Pro978Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.169541746G>CCA343118416F5c.3344C>G (p.Pro1115Arg)
c.3359C>G (p.Pro1120Arg)
c.2933C>G (p.Pro978Arg)
1g.169541746G=CA1206132418F5c.3344C= (p.Pro1115=)
c.3359C= (p.Pro1120=)
c.2933C= (p.Pro978=)
1g.169541746G>TCA343118419F5c.3344C>A (p.Pro1115Gln)
c.3359C>A (p.Pro1120Gln)
c.2933C>A (p.Pro978Gln)
1g.169541747G>ACA343118422F5c.3343C>T (p.Pro1115Ser)
c.3358C>T (p.Pro1120Ser)
c.2932C>T (p.Pro978Ser)
gnomAD v4
1g.169541747G>CCA343118425F5c.3343C>G (p.Pro1115Ala)
c.3358C>G (p.Pro1120Ala)
c.2932C>G (p.Pro978Ala)
1g.169541747G>TCA343118427F5c.3343C>A (p.Pro1115Thr)
c.3358C>A (p.Pro1120Thr)
c.2932C>A (p.Pro978Thr)
1g.169541748A>CCA421930571F5c.3342T>G (p.Pro1114=)
c.3357T>G (p.Pro1119=)
c.2931T>G (p.Pro977=)
1g.169541748A>GCA421930568F5c.3342T>C (p.Pro1114=)
c.3357T>C (p.Pro1119=)
c.2931T>C (p.Pro977=)
1g.169541748A>TCA421930570F5c.3342T>A (p.Pro1114=)
c.3357T>A (p.Pro1119=)
c.2931T>A (p.Pro977=)
1g.169541749G>ACA343118429F5c.3341C>T (p.Pro1114Leu)
c.3356C>T (p.Pro1119Leu)
c.2930C>T (p.Pro977Leu)
1g.169541749G>CCA343118431F5c.3341C>G (p.Pro1114Arg)
c.3356C>G (p.Pro1119Arg)
c.2930C>G (p.Pro977Arg)
1g.169541749G>TCA343118433F5c.3341C>A (p.Pro1114His)
c.3356C>A (p.Pro1119His)
c.2930C>A (p.Pro977His)
1g.169541750G>ACA343118440F5c.3340C>T (p.Pro1114Ser)
c.3355C>T (p.Pro1119Ser)
c.2929C>T (p.Pro977Ser)
1g.169541750G>CCA343118438F5c.3340C>G (p.Pro1114Ala)
c.3355C>G (p.Pro1119Ala)
c.2929C>G (p.Pro977Ala)
1g.169541750G>TCA343118435F5c.3340C>A (p.Pro1114Thr)
c.3355C>A (p.Pro1119Thr)
c.2929C>A (p.Pro977Thr)
1g.169541751A=CA1206132419F5c.3339T= (p.Cys1113=)
c.3354T= (p.Cys1118=)
c.2928T= (p.Cys976=)
1g.169541751A>CCA343118443F5c.3339T>G (p.Cys1113Trp)
c.3354T>G (p.Cys1118Trp)
c.2928T>G (p.Cys976Trp)
1g.169541751A>GCA421930574F5c.3339T>C (p.Cys1113=)
c.3354T>C (p.Cys1118=)
c.2928T>C (p.Cys976=)
ClinVar dbSNP gnomAD v2 gnomAD v4
1g.169541751A>TCA343118448F5c.3339T>A (p.Cys1113Ter)
c.3354T>A (p.Cys1118Ter)
c.2928T>A (p.Cys976Ter)
1g.169541752C>ACA343118449F5c.3338G>T (p.Cys1113Phe)
c.3353G>T (p.Cys1118Phe)
c.2927G>T (p.Cys976Phe)
1g.169541752C>GCA343118450F5c.3338G>C (p.Cys1113Ser)
c.3353G>C (p.Cys1118Ser)
c.2927G>C (p.Cys976Ser)
1g.169541752C>TCA343118451F5c.3338G>A (p.Cys1113Tyr)
c.3353G>A (p.Cys1118Tyr)
c.2927G>A (p.Cys976Tyr)
1g.169541753A>CCA343118452F5c.3337T>G (p.Cys1113Gly)
c.3352T>G (p.Cys1118Gly)
c.2926T>G (p.Cys976Gly)
1g.169541753A>GCA343118454F5c.3337T>C (p.Cys1113Arg)
c.3352T>C (p.Cys1118Arg)
c.2926T>C (p.Cys976Arg)
1g.169541753A>TCA343118456F5c.3337T>A (p.Cys1113Ser)
c.3352T>A (p.Cys1118Ser)
c.2926T>A (p.Cys976Ser)

Number of alleles fetched