Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178740580A=CA1310601489TTNn.12140T= (p.Ile4047=)
n.11939T= (p.Ile3980=)
c.12140T= (p.Ile4047=)
c.10361-2220T= (p.=)
c.11939T= (p.Ile3980=)
c.11564T= (p.Ile3855=)
c.12653T= (p.Ile4218=)
c.11702T= (p.Ile3901=)
c.11750T= (p.Ile3917=)
c.11609T= (p.Ile3870=)
c.11705T= (p.Ile3902=)
c.10364-2220T= (p.=)
2g.178740580A>CCA349611164TTNn.12140T>G (p.Ile4047Arg)
n.11939T>G (p.Ile3980Arg)
c.12140T>G (p.Ile4047Arg)
c.10361-2220T>G (p.=)
c.11939T>G (p.Ile3980Arg)
c.11564T>G (p.Ile3855Arg)
c.12653T>G (p.Ile4218Arg)
c.11702T>G (p.Ile3901Arg)
c.11750T>G (p.Ile3917Arg)
c.11609T>G (p.Ile3870Arg)
c.11705T>G (p.Ile3902Arg)
c.10364-2220T>G (p.=)
2g.178740580A>GCA141993TTNn.12140T>C (p.Ile4047Thr)
n.11939T>C (p.Ile3980Thr)
c.12140T>C (p.Ile4047Thr)
c.10361-2220T>C (p.=)
c.11939T>C (p.Ile3980Thr)
c.11564T>C (p.Ile3855Thr)
c.12653T>C (p.Ile4218Thr)
c.11702T>C (p.Ile3901Thr)
c.11750T>C (p.Ile3917Thr)
c.11609T>C (p.Ile3870Thr)
c.11705T>C (p.Ile3902Thr)
c.10364-2220T>C (p.=)
ClinVar dbSNP ExAC gnomAD
2g.178740580A>TCA349611159TTNn.12140T>A (p.Ile4047Lys)
n.11939T>A (p.Ile3980Lys)
c.12140T>A (p.Ile4047Lys)
c.10361-2220T>A (p.=)
c.11939T>A (p.Ile3980Lys)
c.11564T>A (p.Ile3855Lys)
c.12653T>A (p.Ile4218Lys)
c.11702T>A (p.Ile3901Lys)
c.11750T>A (p.Ile3917Lys)
c.11609T>A (p.Ile3870Lys)
c.11705T>A (p.Ile3902Lys)
c.10364-2220T>A (p.=)
2g.178740581T>ACA349611169TTNn.12139A>T (p.Ile4047Leu)
n.11938A>T (p.Ile3980Leu)
c.12139A>T (p.Ile4047Leu)
c.10361-2221A>T (p.=)
c.11938A>T (p.Ile3980Leu)
c.11563A>T (p.Ile3855Leu)
c.12652A>T (p.Ile4218Leu)
c.11701A>T (p.Ile3901Leu)
c.11749A>T (p.Ile3917Leu)
c.11608A>T (p.Ile3870Leu)
c.11704A>T (p.Ile3902Leu)
c.10364-2221A>T (p.=)
2g.178740581T>CCA2002681TTNn.12139A>G (p.Ile4047Val)
n.11938A>G (p.Ile3980Val)
c.12139A>G (p.Ile4047Val)
c.10361-2221A>G (p.=)
c.11938A>G (p.Ile3980Val)
c.11563A>G (p.Ile3855Val)
c.12652A>G (p.Ile4218Val)
c.11701A>G (p.Ile3901Val)
c.11749A>G (p.Ile3917Val)
c.11608A>G (p.Ile3870Val)
c.11704A>G (p.Ile3902Val)
c.10364-2221A>G (p.=)
dbSNP ExAC gnomAD
2g.178740581T>GCA349611174TTNn.12139A>C (p.Ile4047Leu)
n.11938A>C (p.Ile3980Leu)
c.12139A>C (p.Ile4047Leu)
c.10361-2221A>C (p.=)
c.11938A>C (p.Ile3980Leu)
c.11563A>C (p.Ile3855Leu)
c.12652A>C (p.Ile4218Leu)
c.11701A>C (p.Ile3901Leu)
c.11749A>C (p.Ile3917Leu)
c.11608A>C (p.Ile3870Leu)
c.11704A>C (p.Ile3902Leu)
c.10364-2221A>C (p.=)
2g.178740581T=CA1310601491TTNn.12139A= (p.Ile4047=)
n.11938A= (p.Ile3980=)
c.12139A= (p.Ile4047=)
c.10361-2221A= (p.=)
c.11938A= (p.Ile3980=)
c.11563A= (p.Ile3855=)
c.12652A= (p.Ile4218=)
c.11701A= (p.Ile3901=)
c.11749A= (p.Ile3917=)
c.11608A= (p.Ile3870=)
c.11704A= (p.Ile3902=)
c.10364-2221A= (p.=)
2g.178740582T>ACA430296146TTNn.12138A>T (p.Ser4046=)
n.11937A>T (p.Ser3979=)
c.12138A>T (p.Ser4046=)
c.10361-2222A>T (p.=)
c.11937A>T (p.Ser3979=)
c.11562A>T (p.Ser3854=)
c.12651A>T (p.Ser4217=)
c.11700A>T (p.Ser3900=)
c.11748A>T (p.Ser3916=)
c.11607A>T (p.Ser3869=)
c.11703A>T (p.Ser3901=)
c.10364-2222A>T (p.=)
2g.178740582T>CCA2002682TTNn.12138A>G (p.Ser4046=)
n.11937A>G (p.Ser3979=)
c.12138A>G (p.Ser4046=)
c.10361-2222A>G (p.=)
c.11937A>G (p.Ser3979=)
c.11562A>G (p.Ser3854=)
c.12651A>G (p.Ser4217=)
c.11700A>G (p.Ser3900=)
c.11748A>G (p.Ser3916=)
c.11607A>G (p.Ser3869=)
c.11703A>G (p.Ser3901=)
c.10364-2222A>G (p.=)
dbSNP ExAC gnomAD
2g.178740582T>GCA430296147TTNn.12138A>C (p.Ser4046=)
n.11937A>C (p.Ser3979=)
c.12138A>C (p.Ser4046=)
c.10361-2222A>C (p.=)
c.11937A>C (p.Ser3979=)
c.11562A>C (p.Ser3854=)
c.12651A>C (p.Ser4217=)
c.11700A>C (p.Ser3900=)
c.11748A>C (p.Ser3916=)
c.11607A>C (p.Ser3869=)
c.11703A>C (p.Ser3901=)
c.10364-2222A>C (p.=)
2g.178740582T=CA1310601492TTNn.12138A= (p.Ser4046=)
n.11937A= (p.Ser3979=)
c.12138A= (p.Ser4046=)
c.10361-2222A= (p.=)
c.11937A= (p.Ser3979=)
c.11562A= (p.Ser3854=)
c.12651A= (p.Ser4217=)
c.11700A= (p.Ser3900=)
c.11748A= (p.Ser3916=)
c.11607A= (p.Ser3869=)
c.11703A= (p.Ser3901=)
c.10364-2222A= (p.=)
2g.178740583G>ACA349611178TTNn.12137C>T (p.Ser4046Leu)
n.11936C>T (p.Ser3979Leu)
c.12137C>T (p.Ser4046Leu)
c.10361-2223C>T (p.=)
c.11936C>T (p.Ser3979Leu)
c.11561C>T (p.Ser3854Leu)
c.12650C>T (p.Ser4217Leu)
c.11699C>T (p.Ser3900Leu)
c.11747C>T (p.Ser3916Leu)
c.11606C>T (p.Ser3869Leu)
c.11702C>T (p.Ser3901Leu)
c.10364-2223C>T (p.=)
2g.178740583G>CCA349611181TTNn.12137C>G (p.Ser4046Ter)
n.11936C>G (p.Ser3979Ter)
c.12137C>G (p.Ser4046Ter)
c.10361-2223C>G (p.=)
c.11936C>G (p.Ser3979Ter)
c.11561C>G (p.Ser3854Ter)
c.12650C>G (p.Ser4217Ter)
c.11699C>G (p.Ser3900Ter)
c.11747C>G (p.Ser3916Ter)
c.11606C>G (p.Ser3869Ter)
c.11702C>G (p.Ser3901Ter)
c.10364-2223C>G (p.=)
2g.178740583G>TCA349611183TTNn.12137C>A (p.Ser4046Ter)
n.11936C>A (p.Ser3979Ter)
c.12137C>A (p.Ser4046Ter)
c.10361-2223C>A (p.=)
c.11936C>A (p.Ser3979Ter)
c.11561C>A (p.Ser3854Ter)
c.12650C>A (p.Ser4217Ter)
c.11699C>A (p.Ser3900Ter)
c.11747C>A (p.Ser3916Ter)
c.11606C>A (p.Ser3869Ter)
c.11702C>A (p.Ser3901Ter)
c.10364-2223C>A (p.=)
2g.178740584A>CCA349611190TTNn.12136T>G (p.Ser4046Ala)
n.11935T>G (p.Ser3979Ala)
c.12136T>G (p.Ser4046Ala)
c.10361-2224T>G (p.=)
c.11935T>G (p.Ser3979Ala)
c.11560T>G (p.Ser3854Ala)
c.12649T>G (p.Ser4217Ala)
c.11698T>G (p.Ser3900Ala)
c.11746T>G (p.Ser3916Ala)
c.11605T>G (p.Ser3869Ala)
c.11701T>G (p.Ser3901Ala)
c.10364-2224T>G (p.=)
2g.178740584A>GCA349611193TTNn.12136T>C (p.Ser4046Pro)
n.11935T>C (p.Ser3979Pro)
c.12136T>C (p.Ser4046Pro)
c.10361-2224T>C (p.=)
c.11935T>C (p.Ser3979Pro)
c.11560T>C (p.Ser3854Pro)
c.12649T>C (p.Ser4217Pro)
c.11698T>C (p.Ser3900Pro)
c.11746T>C (p.Ser3916Pro)
c.11605T>C (p.Ser3869Pro)
c.11701T>C (p.Ser3901Pro)
c.10364-2224T>C (p.=)
COSMIC COSMIC
2g.178740584A>TCA349611188TTNn.12136T>A (p.Ser4046Thr)
n.11935T>A (p.Ser3979Thr)
c.12136T>A (p.Ser4046Thr)
c.10361-2224T>A (p.=)
c.11935T>A (p.Ser3979Thr)
c.11560T>A (p.Ser3854Thr)
c.12649T>A (p.Ser4217Thr)
c.11698T>A (p.Ser3900Thr)
c.11746T>A (p.Ser3916Thr)
c.11605T>A (p.Ser3869Thr)
c.11701T>A (p.Ser3901Thr)
c.10364-2224T>A (p.=)
2g.178740585A>CCA430296148TTNn.12135T>G (p.Ser4045=)
n.11934T>G (p.Ser3978=)
c.12135T>G (p.Ser4045=)
c.10361-2225T>G (p.=)
c.11934T>G (p.Ser3978=)
c.11559T>G (p.Ser3853=)
c.12648T>G (p.Ser4216=)
c.11697T>G (p.Ser3899=)
c.11745T>G (p.Ser3915=)
c.11604T>G (p.Ser3868=)
c.11700T>G (p.Ser3900=)
c.10364-2225T>G (p.=)
2g.178740585A>GCA430296149TTNn.12135T>C (p.Ser4045=)
n.11934T>C (p.Ser3978=)
c.12135T>C (p.Ser4045=)
c.10361-2225T>C (p.=)
c.11934T>C (p.Ser3978=)
c.11559T>C (p.Ser3853=)
c.12648T>C (p.Ser4216=)
c.11697T>C (p.Ser3899=)
c.11745T>C (p.Ser3915=)
c.11604T>C (p.Ser3868=)
c.11700T>C (p.Ser3900=)
c.10364-2225T>C (p.=)
2g.178740585A>TCA430296150TTNn.12135T>A (p.Ser4045=)
n.11934T>A (p.Ser3978=)
c.12135T>A (p.Ser4045=)
c.10361-2225T>A (p.=)
c.11934T>A (p.Ser3978=)
c.11559T>A (p.Ser3853=)
c.12648T>A (p.Ser4216=)
c.11697T>A (p.Ser3899=)
c.11745T>A (p.Ser3915=)
c.11604T>A (p.Ser3868=)
c.11700T>A (p.Ser3900=)
c.10364-2225T>A (p.=)
2g.178740586G>ACA349611202TTNn.12134C>T (p.Ser4045Phe)
n.11933C>T (p.Ser3978Phe)
c.12134C>T (p.Ser4045Phe)
c.10361-2226C>T (p.=)
c.11933C>T (p.Ser3978Phe)
c.11558C>T (p.Ser3853Phe)
c.12647C>T (p.Ser4216Phe)
c.11696C>T (p.Ser3899Phe)
c.11744C>T (p.Ser3915Phe)
c.11603C>T (p.Ser3868Phe)
c.11699C>T (p.Ser3900Phe)
c.10364-2226C>T (p.=)
2g.178740586G>CCA349611198TTNn.12134C>G (p.Ser4045Cys)
n.11933C>G (p.Ser3978Cys)
c.12134C>G (p.Ser4045Cys)
c.10361-2226C>G (p.=)
c.11933C>G (p.Ser3978Cys)
c.11558C>G (p.Ser3853Cys)
c.12647C>G (p.Ser4216Cys)
c.11696C>G (p.Ser3899Cys)
c.11744C>G (p.Ser3915Cys)
c.11603C>G (p.Ser3868Cys)
c.11699C>G (p.Ser3900Cys)
c.10364-2226C>G (p.=)
2g.178740586G>TCA349611200TTNn.12134C>A (p.Ser4045Tyr)
n.11933C>A (p.Ser3978Tyr)
c.12134C>A (p.Ser4045Tyr)
c.10361-2226C>A (p.=)
c.11933C>A (p.Ser3978Tyr)
c.11558C>A (p.Ser3853Tyr)
c.12647C>A (p.Ser4216Tyr)
c.11696C>A (p.Ser3899Tyr)
c.11744C>A (p.Ser3915Tyr)
c.11603C>A (p.Ser3868Tyr)
c.11699C>A (p.Ser3900Tyr)
c.10364-2226C>A (p.=)
2g.178740587A>CCA349611208TTNn.12133T>G (p.Ser4045Ala)
n.11932T>G (p.Ser3978Ala)
c.12133T>G (p.Ser4045Ala)
c.10361-2227T>G (p.=)
c.11932T>G (p.Ser3978Ala)
c.11557T>G (p.Ser3853Ala)
c.12646T>G (p.Ser4216Ala)
c.11695T>G (p.Ser3899Ala)
c.11743T>G (p.Ser3915Ala)
c.11602T>G (p.Ser3868Ala)
c.11698T>G (p.Ser3900Ala)
c.10364-2227T>G (p.=)
2g.178740587A>GCA349611211TTNn.12133T>C (p.Ser4045Pro)
n.11932T>C (p.Ser3978Pro)
c.12133T>C (p.Ser4045Pro)
c.10361-2227T>C (p.=)
c.11932T>C (p.Ser3978Pro)
c.11557T>C (p.Ser3853Pro)
c.12646T>C (p.Ser4216Pro)
c.11695T>C (p.Ser3899Pro)
c.11743T>C (p.Ser3915Pro)
c.11602T>C (p.Ser3868Pro)
c.11698T>C (p.Ser3900Pro)
c.10364-2227T>C (p.=)
2g.178740587A>TCA349611215TTNn.12133T>A (p.Ser4045Thr)
n.11932T>A (p.Ser3978Thr)
c.12133T>A (p.Ser4045Thr)
c.10361-2227T>A (p.=)
c.11932T>A (p.Ser3978Thr)
c.11557T>A (p.Ser3853Thr)
c.12646T>A (p.Ser4216Thr)
c.11695T>A (p.Ser3899Thr)
c.11743T>A (p.Ser3915Thr)
c.11602T>A (p.Ser3868Thr)
c.11698T>A (p.Ser3900Thr)
c.10364-2227T>A (p.=)
2g.178740588C>ACA349611218TTNn.12132G>T (p.Gln4044His)
n.11931G>T (p.Gln3977His)
c.12132G>T (p.Gln4044His)
c.10361-2228G>T (p.=)
c.11931G>T (p.Gln3977His)
c.11556G>T (p.Gln3852His)
c.12645G>T (p.Gln4215His)
c.11694G>T (p.Gln3898His)
c.11742G>T (p.Gln3914His)
c.11601G>T (p.Gln3867His)
c.11697G>T (p.Gln3899His)
c.10364-2228G>T (p.=)
2g.178740588C>GCA349611227TTNn.12132G>C (p.Gln4044His)
n.11931G>C (p.Gln3977His)
c.12132G>C (p.Gln4044His)
c.10361-2228G>C (p.=)
c.11931G>C (p.Gln3977His)
c.11556G>C (p.Gln3852His)
c.12645G>C (p.Gln4215His)
c.11694G>C (p.Gln3898His)
c.11742G>C (p.Gln3914His)
c.11601G>C (p.Gln3867His)
c.11697G>C (p.Gln3899His)
c.10364-2228G>C (p.=)
2g.178740588C>TCA430296151TTNn.12132G>A (p.Gln4044=)
n.11931G>A (p.Gln3977=)
c.12132G>A (p.Gln4044=)
c.10361-2228G>A (p.=)
c.11931G>A (p.Gln3977=)
c.11556G>A (p.Gln3852=)
c.12645G>A (p.Gln4215=)
c.11694G>A (p.Gln3898=)
c.11742G>A (p.Gln3914=)
c.11601G>A (p.Gln3867=)
c.11697G>A (p.Gln3899=)
c.10364-2228G>A (p.=)
2g.178740588_178740590delinsCTGCA1310601493TTNn.12130_12132delinsCAG (p.Gln4044=)
n.11929_11931delinsCAG (p.Gln3977=)
c.12130_12132delinsCAG (p.Gln4044=)
c.10361-2230_10361-2228delinsCAG (p.=)
c.11929_11931delinsCAG (p.Gln3977=)
c.11554_11556delinsCAG (p.Gln3852=)
c.12643_12645delinsCAG (p.Gln4215=)
c.11692_11694delinsCAG (p.Gln3898=)
c.11740_11742delinsCAG (p.Gln3914=)
c.11599_11601delinsCAG (p.Gln3867=)
c.11695_11697delinsCAG (p.Gln3899=)
c.10364-2230_10364-2228delinsCAG (p.=)
2g.178740589T>ACA349611232TTNn.12131A>T (p.Gln4044Leu)
n.11930A>T (p.Gln3977Leu)
c.12131A>T (p.Gln4044Leu)
c.10361-2229A>T (p.=)
c.11930A>T (p.Gln3977Leu)
c.11555A>T (p.Gln3852Leu)
c.12644A>T (p.Gln4215Leu)
c.11693A>T (p.Gln3898Leu)
c.11741A>T (p.Gln3914Leu)
c.11600A>T (p.Gln3867Leu)
c.11696A>T (p.Gln3899Leu)
c.10364-2229A>T (p.=)
2g.178740589T>CCA60984130TTNn.12131A>G (p.Gln4044Arg)
n.11930A>G (p.Gln3977Arg)
c.12131A>G (p.Gln4044Arg)
c.10361-2229A>G (p.=)
c.11930A>G (p.Gln3977Arg)
c.11555A>G (p.Gln3852Arg)
c.12644A>G (p.Gln4215Arg)
c.11693A>G (p.Gln3898Arg)
c.11741A>G (p.Gln3914Arg)
c.11600A>G (p.Gln3867Arg)
c.11696A>G (p.Gln3899Arg)
c.10364-2229A>G (p.=)
dbSNP COSMIC COSMIC
2g.178740589T>GCA10606447TTNn.12131A>C (p.Gln4044Pro)
n.11930A>C (p.Gln3977Pro)
c.12131A>C (p.Gln4044Pro)
c.10361-2229A>C (p.=)
c.11930A>C (p.Gln3977Pro)
c.11555A>C (p.Gln3852Pro)
c.12644A>C (p.Gln4215Pro)
c.11693A>C (p.Gln3898Pro)
c.11741A>C (p.Gln3914Pro)
c.11600A>C (p.Gln3867Pro)
c.11696A>C (p.Gln3899Pro)
c.10364-2229A>C (p.=)
ClinVar dbSNP
2g.178740589T=CA1310601495TTNn.12131A= (p.Gln4044=)
n.11930A= (p.Gln3977=)
c.12131A= (p.Gln4044=)
c.10361-2229A= (p.=)
c.11930A= (p.Gln3977=)
c.11555A= (p.Gln3852=)
c.12644A= (p.Gln4215=)
c.11693A= (p.Gln3898=)
c.11741A= (p.Gln3914=)
c.11600A= (p.Gln3867=)
c.11696A= (p.Gln3899=)
c.10364-2229A= (p.=)
2g.178740591_178740592delCA353308TTNn.12130_12131del (p.Gln4044ValfsTer16)
n.11929_11930del (p.Gln3977ValfsTer16)
c.12130_12131del (p.Gln4044ValfsTer16)
c.10361-2230_10361-2229del (p.=)
c.11929_11930del (p.Gln3977ValfsTer16)
c.11554_11555del (p.Gln3852ValfsTer16)
c.12643_12644del (p.Gln4215ValfsTer16)
c.11692_11693del (p.Gln3898ValfsTer16)
c.11740_11741del (p.Gln3914ValfsTer16)
c.11599_11600del (p.Gln3867ValfsTer16)
c.11695_11696del (p.Gln3899ValfsTer16)
c.10364-2230_10364-2229del (p.=)
dbSNP
2g.178740590G>ACA2002683TTNn.12130C>T (p.Gln4044Ter)
n.11929C>T (p.Gln3977Ter)
c.12130C>T (p.Gln4044Ter)
c.10361-2230C>T (p.=)
c.11929C>T (p.Gln3977Ter)
c.11554C>T (p.Gln3852Ter)
c.12643C>T (p.Gln4215Ter)
c.11692C>T (p.Gln3898Ter)
c.11740C>T (p.Gln3914Ter)
c.11599C>T (p.Gln3867Ter)
c.11695C>T (p.Gln3899Ter)
c.10364-2230C>T (p.=)
ClinVar dbSNP ExAC gnomAD
2g.178740590G>CCA349611241TTNn.12130C>G (p.Gln4044Glu)
n.11929C>G (p.Gln3977Glu)
c.12130C>G (p.Gln4044Glu)
c.10361-2230C>G (p.=)
c.11929C>G (p.Gln3977Glu)
c.11554C>G (p.Gln3852Glu)
c.12643C>G (p.Gln4215Glu)
c.11692C>G (p.Gln3898Glu)
c.11740C>G (p.Gln3914Glu)
c.11599C>G (p.Gln3867Glu)
c.11695C>G (p.Gln3899Glu)
c.10364-2230C>G (p.=)
2g.178740590G=CA1310601499TTNn.12130C= (p.Gln4044=)
n.11929C= (p.Gln3977=)
c.12130C= (p.Gln4044=)
c.10361-2230C= (p.=)
c.11929C= (p.Gln3977=)
c.11554C= (p.Gln3852=)
c.12643C= (p.Gln4215=)
c.11692C= (p.Gln3898=)
c.11740C= (p.Gln3914=)
c.11599C= (p.Gln3867=)
c.11695C= (p.Gln3899=)
c.10364-2230C= (p.=)
2g.178740590G>TCA349611243TTNn.12130C>A (p.Gln4044Lys)
n.11929C>A (p.Gln3977Lys)
c.12130C>A (p.Gln4044Lys)
c.10361-2230C>A (p.=)
c.11929C>A (p.Gln3977Lys)
c.11554C>A (p.Gln3852Lys)
c.12643C>A (p.Gln4215Lys)
c.11692C>A (p.Gln3898Lys)
c.11740C>A (p.Gln3914Lys)
c.11599C>A (p.Gln3867Lys)
c.11695C>A (p.Gln3899Lys)
c.10364-2230C>A (p.=)
gnomAD
2g.178740591T>ACA430296154TTNn.12129A>T (p.Pro4043=)
n.11928A>T (p.Pro3976=)
c.12129A>T (p.Pro4043=)
c.10361-2231A>T (p.=)
c.11928A>T (p.Pro3976=)
c.11553A>T (p.Pro3851=)
c.12642A>T (p.Pro4214=)
c.11691A>T (p.Pro3897=)
c.11739A>T (p.Pro3913=)
c.11598A>T (p.Pro3866=)
c.11694A>T (p.Pro3898=)
c.10364-2231A>T (p.=)
2g.178740591T>CCA430296152TTNn.12129A>G (p.Pro4043=)
n.11928A>G (p.Pro3976=)
c.12129A>G (p.Pro4043=)
c.10361-2231A>G (p.=)
c.11928A>G (p.Pro3976=)
c.11553A>G (p.Pro3851=)
c.12642A>G (p.Pro4214=)
c.11691A>G (p.Pro3897=)
c.11739A>G (p.Pro3913=)
c.11598A>G (p.Pro3866=)
c.11694A>G (p.Pro3898=)
c.10364-2231A>G (p.=)
2g.178740591T>GCA430296153TTNn.12129A>C (p.Pro4043=)
n.11928A>C (p.Pro3976=)
c.12129A>C (p.Pro4043=)
c.10361-2231A>C (p.=)
c.11928A>C (p.Pro3976=)
c.11553A>C (p.Pro3851=)
c.12642A>C (p.Pro4214=)
c.11691A>C (p.Pro3897=)
c.11739A>C (p.Pro3913=)
c.11598A>C (p.Pro3866=)
c.11694A>C (p.Pro3898=)
c.10364-2231A>C (p.=)
2g.178740592G>ACA60984137TTNn.12128C>T (p.Pro4043Leu)
n.11927C>T (p.Pro3976Leu)
c.12128C>T (p.Pro4043Leu)
c.10361-2232C>T (p.=)
c.11927C>T (p.Pro3976Leu)
c.11552C>T (p.Pro3851Leu)
c.12641C>T (p.Pro4214Leu)
c.11690C>T (p.Pro3897Leu)
c.11738C>T (p.Pro3913Leu)
c.11597C>T (p.Pro3866Leu)
c.11693C>T (p.Pro3898Leu)
c.10364-2232C>T (p.=)
dbSNP
2g.178740592G>CCA349611251TTNn.12128C>G (p.Pro4043Arg)
n.11927C>G (p.Pro3976Arg)
c.12128C>G (p.Pro4043Arg)
c.10361-2232C>G (p.=)
c.11927C>G (p.Pro3976Arg)
c.11552C>G (p.Pro3851Arg)
c.12641C>G (p.Pro4214Arg)
c.11690C>G (p.Pro3897Arg)
c.11738C>G (p.Pro3913Arg)
c.11597C>G (p.Pro3866Arg)
c.11693C>G (p.Pro3898Arg)
c.10364-2232C>G (p.=)
2g.178740592G=CA1310601502TTNn.12128C= (p.Pro4043=)
n.11927C= (p.Pro3976=)
c.12128C= (p.Pro4043=)
c.10361-2232C= (p.=)
c.11927C= (p.Pro3976=)
c.11552C= (p.Pro3851=)
c.12641C= (p.Pro4214=)
c.11690C= (p.Pro3897=)
c.11738C= (p.Pro3913=)
c.11597C= (p.Pro3866=)
c.11693C= (p.Pro3898=)
c.10364-2232C= (p.=)
2g.178740592G>TCA349611248TTNn.12128C>A (p.Pro4043Gln)
n.11927C>A (p.Pro3976Gln)
c.12128C>A (p.Pro4043Gln)
c.10361-2232C>A (p.=)
c.11927C>A (p.Pro3976Gln)
c.11552C>A (p.Pro3851Gln)
c.12641C>A (p.Pro4214Gln)
c.11690C>A (p.Pro3897Gln)
c.11738C>A (p.Pro3913Gln)
c.11597C>A (p.Pro3866Gln)
c.11693C>A (p.Pro3898Gln)
c.10364-2232C>A (p.=)
2g.178740592_178740593delinsTTCA645514477TTNn.12127_12128delinsAA (p.Pro4043Lys)
n.11926_11927delinsAA (p.Pro3976Lys)
c.12127_12128delinsAA (p.Pro4043Lys)
c.10361-2233_10361-2232delinsAA (p.=)
c.11926_11927delinsAA (p.Pro3976Lys)
c.11551_11552delinsAA (p.Pro3851Lys)
c.12640_12641delinsAA (p.Pro4214Lys)
c.11689_11690delinsAA (p.Pro3897Lys)
c.11737_11738delinsAA (p.Pro3913Lys)
c.11596_11597delinsAA (p.Pro3866Lys)
c.11692_11693delinsAA (p.Pro3898Lys)
c.10364-2233_10364-2232delinsAA (p.=)
COSMIC COSMIC
2g.178740593G>ACA349611255TTNn.12127C>T (p.Pro4043Ser)
n.11926C>T (p.Pro3976Ser)
c.12127C>T (p.Pro4043Ser)
c.10361-2233C>T (p.=)
c.11926C>T (p.Pro3976Ser)
c.11551C>T (p.Pro3851Ser)
c.12640C>T (p.Pro4214Ser)
c.11689C>T (p.Pro3897Ser)
c.11737C>T (p.Pro3913Ser)
c.11596C>T (p.Pro3866Ser)
c.11692C>T (p.Pro3898Ser)
c.10364-2233C>T (p.=)
COSMIC COSMIC
2g.178740593G>CCA349611257TTNn.12127C>G (p.Pro4043Ala)
n.11926C>G (p.Pro3976Ala)
c.12127C>G (p.Pro4043Ala)
c.10361-2233C>G (p.=)
c.11926C>G (p.Pro3976Ala)
c.11551C>G (p.Pro3851Ala)
c.12640C>G (p.Pro4214Ala)
c.11689C>G (p.Pro3897Ala)
c.11737C>G (p.Pro3913Ala)
c.11596C>G (p.Pro3866Ala)
c.11692C>G (p.Pro3898Ala)
c.10364-2233C>G (p.=)

Number of alleles fetched