Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178780009_178780021delinsTACATAAGTTCTGCA1310618999TTNc.3708_3720delinsCAGAACTTATGTA (p.Val1236=)
c.3570_3582delinsCAGAACTTATGTA (p.Val1190=)
c.3756_3768delinsCAGAACTTATGTA (p.Val1252=)
c.3615_3627delinsCAGAACTTATGTA (p.Val1205=)
c.3753_3765delinsCAGAACTTATGTA (p.Val1251=)
c.3711_3723delinsCAGAACTTATGTA (p.Val1237=)
2g.178780010A=CA1310619001TTNc.3719T= (p.Val1240=)
c.3581T= (p.Val1194=)
c.3767T= (p.Val1256=)
c.3626T= (p.Val1209=)
c.3764T= (p.Val1255=)
c.3722T= (p.Val1241=)
2g.178780010A>CCA349481860TTNc.3719T>G (p.Val1240Gly)
c.3581T>G (p.Val1194Gly)
c.3767T>G (p.Val1256Gly)
c.3626T>G (p.Val1209Gly)
c.3764T>G (p.Val1255Gly)
c.3722T>G (p.Val1241Gly)
2g.178780010A>GCA2005496TTNc.3719T>C (p.Val1240Ala)
c.3581T>C (p.Val1194Ala)
c.3767T>C (p.Val1256Ala)
c.3626T>C (p.Val1209Ala)
c.3764T>C (p.Val1255Ala)
c.3722T>C (p.Val1241Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.178780010A>TCA349481861TTNc.3719T>A (p.Val1240Glu)
c.3581T>A (p.Val1194Glu)
c.3767T>A (p.Val1256Glu)
c.3626T>A (p.Val1209Glu)
c.3764T>A (p.Val1255Glu)
c.3722T>A (p.Val1241Glu)
2g.178780012_178780023delCA538094648TTNc.3708_3719del (p.Arg1237_Val1240del)
c.3570_3581del (p.Arg1191_Val1194del)
c.3756_3767del (p.Arg1253_Val1256del)
c.3615_3626del (p.Arg1206_Val1209del)
c.3753_3764del (p.Arg1252_Val1255del)
c.3711_3722del (p.Arg1238_Val1241del)
dbSNP gnomAD v2 gnomAD v4
2g.178780011C>ACA349481862TTNc.3718G>T (p.Val1240Leu)
c.3580G>T (p.Val1194Leu)
c.3766G>T (p.Val1256Leu)
c.3625G>T (p.Val1209Leu)
c.3763G>T (p.Val1255Leu)
c.3721G>T (p.Val1241Leu)
dbSNP gnomAD v3 gnomAD v4
2g.178780011C=CA1310619002TTNc.3718G= (p.Val1240=)
c.3580G= (p.Val1194=)
c.3766G= (p.Val1256=)
c.3625G= (p.Val1209=)
c.3763G= (p.Val1255=)
c.3721G= (p.Val1241=)
2g.178780011C>GCA349481863TTNc.3718G>C (p.Val1240Leu)
c.3580G>C (p.Val1194Leu)
c.3766G>C (p.Val1256Leu)
c.3625G>C (p.Val1209Leu)
c.3763G>C (p.Val1255Leu)
c.3721G>C (p.Val1241Leu)
2g.178780011C>TCA349481864TTNc.3718G>A (p.Val1240Ile)
c.3580G>A (p.Val1194Ile)
c.3766G>A (p.Val1256Ile)
c.3625G>A (p.Val1209Ile)
c.3763G>A (p.Val1255Ile)
c.3721G>A (p.Val1241Ile)
gnomAD v4
2g.178780011_178780012insGCA60979809TTNc.3717_3718insC (p.Val1240ArgfsTer12)
c.3579_3580insC (p.Val1194ArgfsTer12)
c.3765_3766insC (p.Val1256ArgfsTer12)
c.3624_3625insC (p.Val1209ArgfsTer12)
c.3762_3763insC (p.Val1255ArgfsTer12)
c.3720_3721insC (p.Val1241ArgfsTer12)
dbSNP
2g.178780012A=CA1310619003TTNc.3717T= (p.Tyr1239=)
c.3579T= (p.Tyr1193=)
c.3765T= (p.Tyr1255=)
c.3624T= (p.Tyr1208=)
c.3762T= (p.Tyr1254=)
c.3720T= (p.Tyr1240=)
2g.178780012A>CCA349481865TTNc.3717T>G (p.Tyr1239Ter)
c.3579T>G (p.Tyr1193Ter)
c.3765T>G (p.Tyr1255Ter)
c.3624T>G (p.Tyr1208Ter)
c.3762T>G (p.Tyr1254Ter)
c.3720T>G (p.Tyr1240Ter)
ClinVar
2g.178780012A>GCA2005497TTNc.3717T>C (p.Tyr1239=)
c.3579T>C (p.Tyr1193=)
c.3765T>C (p.Tyr1255=)
c.3624T>C (p.Tyr1208=)
c.3762T>C (p.Tyr1254=)
c.3720T>C (p.Tyr1240=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178780012A>TCA349481866TTNc.3717T>A (p.Tyr1239Ter)
c.3579T>A (p.Tyr1193Ter)
c.3765T>A (p.Tyr1255Ter)
c.3624T>A (p.Tyr1208Ter)
c.3762T>A (p.Tyr1254Ter)
c.3720T>A (p.Tyr1240Ter)
2g.178780013T>ACA349481882TTNc.3716A>T (p.Tyr1239Phe)
c.3578A>T (p.Tyr1193Phe)
c.3764A>T (p.Tyr1255Phe)
c.3623A>T (p.Tyr1208Phe)
c.3761A>T (p.Tyr1254Phe)
c.3719A>T (p.Tyr1240Phe)
2g.178780013T>CCA349481867TTNc.3716A>G (p.Tyr1239Cys)
c.3578A>G (p.Tyr1193Cys)
c.3764A>G (p.Tyr1255Cys)
c.3623A>G (p.Tyr1208Cys)
c.3761A>G (p.Tyr1254Cys)
c.3719A>G (p.Tyr1240Cys)
dbSNP gnomAD v2 gnomAD v4
2g.178780013T>GCA311269TTNc.3716A>C (p.Tyr1239Ser)
c.3578A>C (p.Tyr1193Ser)
c.3764A>C (p.Tyr1255Ser)
c.3623A>C (p.Tyr1208Ser)
c.3761A>C (p.Tyr1254Ser)
c.3719A>C (p.Tyr1240Ser)
ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC
2g.178780013T=CA1310619004TTNc.3716A= (p.Tyr1239=)
c.3578A= (p.Tyr1193=)
c.3764A= (p.Tyr1255=)
c.3623A= (p.Tyr1208=)
c.3761A= (p.Tyr1254=)
c.3719A= (p.Tyr1240=)
2g.178780014A>CCA349481887TTNc.3715T>G (p.Tyr1239Asp)
c.3577T>G (p.Tyr1193Asp)
c.3763T>G (p.Tyr1255Asp)
c.3622T>G (p.Tyr1208Asp)
c.3760T>G (p.Tyr1254Asp)
c.3718T>G (p.Tyr1240Asp)
2g.178780014A>GCA349481894TTNc.3715T>C (p.Tyr1239His)
c.3577T>C (p.Tyr1193His)
c.3763T>C (p.Tyr1255His)
c.3622T>C (p.Tyr1208His)
c.3760T>C (p.Tyr1254His)
c.3718T>C (p.Tyr1240His)
2g.178780014A>TCA349481890TTNc.3715T>A (p.Tyr1239Asn)
c.3577T>A (p.Tyr1193Asn)
c.3763T>A (p.Tyr1255Asn)
c.3622T>A (p.Tyr1208Asn)
c.3760T>A (p.Tyr1254Asn)
c.3718T>A (p.Tyr1240Asn)
2g.178780015A>CCA430108689TTNc.3714T>G (p.Thr1238=)
c.3576T>G (p.Thr1192=)
c.3762T>G (p.Thr1254=)
c.3621T>G (p.Thr1207=)
c.3759T>G (p.Thr1253=)
c.3717T>G (p.Thr1239=)
COSMIC COSMIC COSMIC COSMIC COSMIC
2g.178780015A>GCA430108691TTNc.3714T>C (p.Thr1238=)
c.3576T>C (p.Thr1192=)
c.3762T>C (p.Thr1254=)
c.3621T>C (p.Thr1207=)
c.3759T>C (p.Thr1253=)
c.3717T>C (p.Thr1239=)
COSMIC COSMIC COSMIC COSMIC COSMIC
2g.178780015A>TCA430108693TTNc.3714T>A (p.Thr1238=)
c.3576T>A (p.Thr1192=)
c.3762T>A (p.Thr1254=)
c.3621T>A (p.Thr1207=)
c.3759T>A (p.Thr1253=)
c.3717T>A (p.Thr1239=)
COSMIC COSMIC COSMIC COSMIC COSMIC
2g.178780016G>ACA349481897TTNc.3713C>T (p.Thr1238Ile)
c.3575C>T (p.Thr1192Ile)
c.3761C>T (p.Thr1254Ile)
c.3620C>T (p.Thr1207Ile)
c.3758C>T (p.Thr1253Ile)
c.3716C>T (p.Thr1239Ile)
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.178780016G>CCA2005499TTNc.3713C>G (p.Thr1238Ser)
c.3575C>G (p.Thr1192Ser)
c.3761C>G (p.Thr1254Ser)
c.3620C>G (p.Thr1207Ser)
c.3758C>G (p.Thr1253Ser)
c.3716C>G (p.Thr1239Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.178780016G=CA1310619005TTNc.3713C= (p.Thr1238=)
c.3575C= (p.Thr1192=)
c.3761C= (p.Thr1254=)
c.3620C= (p.Thr1207=)
c.3758C= (p.Thr1253=)
c.3716C= (p.Thr1239=)
2g.178780016G>TCA2005498TTNc.3713C>A (p.Thr1238Asn)
c.3575C>A (p.Thr1192Asn)
c.3761C>A (p.Thr1254Asn)
c.3620C>A (p.Thr1207Asn)
c.3758C>A (p.Thr1253Asn)
c.3716C>A (p.Thr1239Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.178780017T>ACA349481909TTNc.3712A>T (p.Thr1238Ser)
c.3574A>T (p.Thr1192Ser)
c.3760A>T (p.Thr1254Ser)
c.3619A>T (p.Thr1207Ser)
c.3757A>T (p.Thr1253Ser)
c.3715A>T (p.Thr1239Ser)
2g.178780017T>CCA349481913TTNc.3712A>G (p.Thr1238Ala)
c.3574A>G (p.Thr1192Ala)
c.3760A>G (p.Thr1254Ala)
c.3619A>G (p.Thr1207Ala)
c.3757A>G (p.Thr1253Ala)
c.3715A>G (p.Thr1239Ala)
2g.178780017T>GCA349481915TTNc.3712A>C (p.Thr1238Pro)
c.3574A>C (p.Thr1192Pro)
c.3760A>C (p.Thr1254Pro)
c.3619A>C (p.Thr1207Pro)
c.3757A>C (p.Thr1253Pro)
c.3715A>C (p.Thr1239Pro)
COSMIC COSMIC COSMIC COSMIC COSMIC
2g.178780018T>ACA349481931TTNc.3711A>T (p.Arg1237Ser)
c.3573A>T (p.Arg1191Ser)
c.3759A>T (p.Arg1253Ser)
c.3618A>T (p.Arg1206Ser)
c.3756A>T (p.Arg1252Ser)
c.3714A>T (p.Arg1238Ser)
2g.178780018T>CCA430108705TTNc.3711A>G (p.Arg1237=)
c.3573A>G (p.Arg1191=)
c.3759A>G (p.Arg1253=)
c.3618A>G (p.Arg1206=)
c.3756A>G (p.Arg1252=)
c.3714A>G (p.Arg1238=)
2g.178780018T>GCA349481935TTNc.3711A>C (p.Arg1237Ser)
c.3573A>C (p.Arg1191Ser)
c.3759A>C (p.Arg1253Ser)
c.3618A>C (p.Arg1206Ser)
c.3756A>C (p.Arg1252Ser)
c.3714A>C (p.Arg1238Ser)
2g.178780019C>ACA349481938TTNc.3710G>T (p.Arg1237Ile)
c.3572G>T (p.Arg1191Ile)
c.3758G>T (p.Arg1253Ile)
c.3617G>T (p.Arg1206Ile)
c.3755G>T (p.Arg1252Ile)
c.3713G>T (p.Arg1238Ile)
COSMIC COSMIC COSMIC COSMIC COSMIC
2g.178780019C>GCA349481937TTNc.3710G>C (p.Arg1237Thr)
c.3572G>C (p.Arg1191Thr)
c.3758G>C (p.Arg1253Thr)
c.3617G>C (p.Arg1206Thr)
c.3755G>C (p.Arg1252Thr)
c.3713G>C (p.Arg1238Thr)
2g.178780019C>TCA349481936TTNc.3710G>A (p.Arg1237Lys)
c.3572G>A (p.Arg1191Lys)
c.3758G>A (p.Arg1253Lys)
c.3617G>A (p.Arg1206Lys)
c.3755G>A (p.Arg1252Lys)
c.3713G>A (p.Arg1238Lys)
2g.178780020T>ACA349481940TTNc.3709A>T (p.Arg1237Ter)
c.3571A>T (p.Arg1191Ter)
c.3757A>T (p.Arg1253Ter)
c.3616A>T (p.Arg1206Ter)
c.3754A>T (p.Arg1252Ter)
c.3712A>T (p.Arg1238Ter)
gnomAD v4
2g.178780020T>CCA349481943TTNc.3709A>G (p.Arg1237Gly)
c.3571A>G (p.Arg1191Gly)
c.3757A>G (p.Arg1253Gly)
c.3616A>G (p.Arg1206Gly)
c.3754A>G (p.Arg1252Gly)
c.3712A>G (p.Arg1238Gly)
gnomAD v4
2g.178780020T>GCA430108709TTNc.3709A>C (p.Arg1237=)
c.3571A>C (p.Arg1191=)
c.3757A>C (p.Arg1253=)
c.3616A>C (p.Arg1206=)
c.3754A>C (p.Arg1252=)
c.3712A>C (p.Arg1238=)
2g.178780021G>ACA2005500TTNc.3708C>T (p.Val1236=)
c.3570C>T (p.Val1190=)
c.3756C>T (p.Val1252=)
c.3615C>T (p.Val1205=)
c.3753C>T (p.Val1251=)
c.3711C>T (p.Val1237=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178780021G>CCA430108712TTNc.3708C>G (p.Val1236=)
c.3570C>G (p.Val1190=)
c.3756C>G (p.Val1252=)
c.3615C>G (p.Val1205=)
c.3753C>G (p.Val1251=)
c.3711C>G (p.Val1237=)
2g.178780021G=CA1310619006TTNc.3708C= (p.Val1236=)
c.3570C= (p.Val1190=)
c.3756C= (p.Val1252=)
c.3615C= (p.Val1205=)
c.3753C= (p.Val1251=)
c.3711C= (p.Val1237=)
2g.178780021G>TCA430108714TTNc.3708C>A (p.Val1236=)
c.3570C>A (p.Val1190=)
c.3756C>A (p.Val1252=)
c.3615C>A (p.Val1205=)
c.3753C>A (p.Val1251=)
c.3711C>A (p.Val1237=)
gnomAD v4
2g.178780022A>CCA349481949TTNc.3707T>G (p.Val1236Gly)
c.3569T>G (p.Val1190Gly)
c.3755T>G (p.Val1252Gly)
c.3614T>G (p.Val1205Gly)
c.3752T>G (p.Val1251Gly)
c.3710T>G (p.Val1237Gly)
2g.178780022A>GCA349481951TTNc.3707T>C (p.Val1236Ala)
c.3569T>C (p.Val1190Ala)
c.3755T>C (p.Val1252Ala)
c.3614T>C (p.Val1205Ala)
c.3752T>C (p.Val1251Ala)
c.3710T>C (p.Val1237Ala)
2g.178780022A>TCA349481954TTNc.3707T>A (p.Val1236Asp)
c.3569T>A (p.Val1190Asp)
c.3755T>A (p.Val1252Asp)
c.3614T>A (p.Val1205Asp)
c.3752T>A (p.Val1251Asp)
c.3710T>A (p.Val1237Asp)
2g.178780023C>ACA349481967TTNc.3706G>T (p.Val1236Phe)
c.3568G>T (p.Val1190Phe)
c.3754G>T (p.Val1252Phe)
c.3613G>T (p.Val1205Phe)
c.3751G>T (p.Val1251Phe)
c.3709G>T (p.Val1237Phe)
2g.178780023C>GCA349481975TTNc.3706G>C (p.Val1236Leu)
c.3568G>C (p.Val1190Leu)
c.3754G>C (p.Val1252Leu)
c.3613G>C (p.Val1205Leu)
c.3751G>C (p.Val1251Leu)
c.3709G>C (p.Val1237Leu)

Number of alleles fetched