Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.24751989T>ACA425170814NCOA1c.3714T>A (p.Val1238=)
c.3261T>A (p.Val1087=)
c.3399T>A (p.Val1133=)
2g.24751989T>CCA425170815NCOA1c.3714T>C (p.Val1238=)
c.3261T>C (p.Val1087=)
c.3399T>C (p.Val1133=)
2g.24751989T>GCA425170816NCOA1c.3714T>G (p.Val1238=)
c.3261T>G (p.Val1087=)
c.3399T>G (p.Val1133=)
2g.24751990C>ACA346055698NCOA1c.3715C>A (p.Pro1239Thr)
c.3262C>A (p.Pro1088Thr)
c.3400C>A (p.Pro1134Thr)
2g.24751990C>GCA346055697NCOA1c.3715C>G (p.Pro1239Ala)
c.3262C>G (p.Pro1088Ala)
c.3400C>G (p.Pro1134Ala)
2g.24751990C>TCA346055696NCOA1c.3715C>T (p.Pro1239Ser)
c.3262C>T (p.Pro1088Ser)
c.3400C>T (p.Pro1134Ser)
 gnomAD v4 COSMIC COSMIC
2g.24751991C>ACA346055699NCOA1c.3716C>A (p.Pro1239His)
c.3263C>A (p.Pro1088His)
c.3401C>A (p.Pro1134His)
2g.24751991C>GCA346055700NCOA1c.3716C>G (p.Pro1239Arg)
c.3263C>G (p.Pro1088Arg)
c.3401C>G (p.Pro1134Arg)
2g.24751991C>TCA346055701NCOA1c.3716C>T (p.Pro1239Leu)
c.3263C>T (p.Pro1088Leu)
c.3401C>T (p.Pro1134Leu)
 COSMIC COSMIC
2g.24751992C>ACA425170819NCOA1c.3717C>A (p.Pro1239=)
c.3264C>A (p.Pro1088=)
c.3402C>A (p.Pro1134=)
 dbSNP gnomAD v3 gnomAD v4
2g.24751992C=CA1239039635NCOA1c.3717C= (p.Pro1239=)
c.3264C= (p.Pro1088=)
c.3402C= (p.Pro1134=)
2g.24751992C>GCA425170817NCOA1c.3717C>G (p.Pro1239=)
c.3264C>G (p.Pro1088=)
c.3402C>G (p.Pro1134=)
2g.24751992C>TCA425170818NCOA1c.3717C>T (p.Pro1239=)
c.3264C>T (p.Pro1088=)
c.3402C>T (p.Pro1134=)
2g.24751993C>ACA346055702NCOA1c.3718C>A (p.Gln1240Lys)
c.3265C>A (p.Gln1089Lys)
c.3403C>A (p.Gln1135Lys)
2g.24751993C>GCA346055703NCOA1c.3718C>G (p.Gln1240Glu)
c.3265C>G (p.Gln1089Glu)
c.3403C>G (p.Gln1135Glu)
2g.24751993C>TCA346055704NCOA1c.3718C>T (p.Gln1240Ter)
c.3265C>T (p.Gln1089Ter)
c.3403C>T (p.Gln1135Ter)
2g.24751994A>CCA346055705NCOA1c.3719A>C (p.Gln1240Pro)
c.3266A>C (p.Gln1089Pro)
c.3404A>C (p.Gln1135Pro)
2g.24751994A>GCA346055707NCOA1c.3719A>G (p.Gln1240Arg)
c.3266A>G (p.Gln1089Arg)
c.3404A>G (p.Gln1135Arg)
2g.24751994A>TCA346055706NCOA1c.3719A>T (p.Gln1240Leu)
c.3266A>T (p.Gln1089Leu)
c.3404A>T (p.Gln1135Leu)
2g.24751995delCA2658130975NCOA1c.3720del (p.Gly1241ValfsTer9)
c.3267del (p.Gly1090ValfsTer9)
c.3405del (p.Gly1136ValfsTer9)
 gnomAD v4
2g.24751995A=CA1239039636NCOA1c.3720A= (p.Gln1240=)
c.3267A= (p.Gln1089=)
c.3405A= (p.Gln1135=)
2g.24751995A>CCA346055708NCOA1c.3720A>C (p.Gln1240His)
c.3267A>C (p.Gln1089His)
c.3405A>C (p.Gln1135His)
2g.24751995A>GCA1552702NCOA1c.3720A>G (p.Gln1240=)
c.3267A>G (p.Gln1089=)
c.3405A>G (p.Gln1135=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.24751995A>TCA346055709NCOA1c.3720A>T (p.Gln1240His)
c.3267A>T (p.Gln1089His)
c.3405A>T (p.Gln1135His)
2g.24751996G>ACA1552703NCOA1c.3721G>A (p.Gly1241Ser)
c.3268G>A (p.Gly1090Ser)
c.3406G>A (p.Gly1136Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.24751996G>CCA346055710NCOA1c.3721G>C (p.Gly1241Arg)
c.3268G>C (p.Gly1090Arg)
c.3406G>C (p.Gly1136Arg)
2g.24751996G=CA1239039637NCOA1c.3721G= (p.Gly1241=)
c.3268G= (p.Gly1090=)
c.3406G= (p.Gly1136=)
2g.24751996G>TCA346055711NCOA1c.3721G>T (p.Gly1241Cys)
c.3268G>T (p.Gly1090Cys)
c.3406G>T (p.Gly1136Cys)
2g.24751997G>ACA346055712NCOA1c.3722G>A (p.Gly1241Asp)
c.3269G>A (p.Gly1090Asp)
c.3407G>A (p.Gly1136Asp)
2g.24751997G>CCA346055713NCOA1c.3722G>C (p.Gly1241Ala)
c.3269G>C (p.Gly1090Ala)
c.3407G>C (p.Gly1136Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.24751997G=CA1239039638NCOA1c.3722G= (p.Gly1241=)
c.3269G= (p.Gly1090=)
c.3407G= (p.Gly1136=)
2g.24751997G>TCA346055714NCOA1c.3722G>T (p.Gly1241Val)
c.3269G>T (p.Gly1090Val)
c.3407G>T (p.Gly1136Val)
 gnomAD v4
2g.24751998T>ACA425170820NCOA1c.3723T>A (p.Gly1241=)
c.3270T>A (p.Gly1090=)
c.3408T>A (p.Gly1136=)
2g.24751998T>CCA425170822NCOA1c.3723T>C (p.Gly1241=)
c.3270T>C (p.Gly1090=)
c.3408T>C (p.Gly1136=)
2g.24751998T>GCA425170821NCOA1c.3723T>G (p.Gly1241=)
c.3270T>G (p.Gly1090=)
c.3408T>G (p.Gly1136=)
2g.24751999G>ACA346055715NCOA1c.3724G>A (p.Glu1242Lys)
c.3271G>A (p.Glu1091Lys)
c.3409G>A (p.Glu1137Lys)
2g.24751999G>CCA346055716NCOA1c.3724G>C (p.Glu1242Gln)
c.3271G>C (p.Glu1091Gln)
c.3409G>C (p.Glu1137Gln)
2g.24751999G>TCA346055717NCOA1c.3724G>T (p.Glu1242Ter)
c.3271G>T (p.Glu1091Ter)
c.3409G>T (p.Glu1137Ter)
2g.24752000A=CA1239039639NCOA1c.3725A= (p.Glu1242=)
c.3272A= (p.Glu1091=)
c.3410A= (p.Glu1137=)
2g.24752000A>CCA346055718NCOA1c.3725A>C (p.Glu1242Ala)
c.3272A>C (p.Glu1091Ala)
c.3410A>C (p.Glu1137Ala)
2g.24752000A>GCA346055720NCOA1c.3725A>G (p.Glu1242Gly)
c.3272A>G (p.Glu1091Gly)
c.3410A>G (p.Glu1137Gly)
 dbSNP
2g.24752000A>TCA346055719NCOA1c.3725A>T (p.Glu1242Val)
c.3272A>T (p.Glu1091Val)
c.3410A>T (p.Glu1137Val)
2g.24752001G>ACA425170823NCOA1c.3726G>A (p.Glu1242=)
c.3273G>A (p.Glu1091=)
c.3411G>A (p.Glu1137=)
2g.24752001G>CCA346055721NCOA1c.3726G>C (p.Glu1242Asp)
c.3273G>C (p.Glu1091Asp)
c.3411G>C (p.Glu1137Asp)
2g.24752001G>TCA346055722NCOA1c.3726G>T (p.Glu1242Asp)
c.3273G>T (p.Glu1091Asp)
c.3411G>T (p.Glu1137Asp)
2g.24752002G>ACA346055723NCOA1c.3727G>A (p.Ala1243Thr)
c.3274G>A (p.Ala1092Thr)
c.3412G>A (p.Ala1138Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.24752002G>CCA346055724NCOA1c.3727G>C (p.Ala1243Pro)
c.3274G>C (p.Ala1092Pro)
c.3412G>C (p.Ala1138Pro)
2g.24752002G=CA1239039640NCOA1c.3727G= (p.Ala1243=)
c.3274G= (p.Ala1092=)
c.3412G= (p.Ala1138=)
2g.24752002G>TCA346055725NCOA1c.3727G>T (p.Ala1243Ser)
c.3274G>T (p.Ala1092Ser)
c.3412G>T (p.Ala1138Ser)
2g.24752003C>ACA346055726NCOA1c.3728C>A (p.Ala1243Asp)
c.3275C>A (p.Ala1092Asp)
c.3413C>A (p.Ala1138Asp)

Number of alleles fetched