Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.34342072G>ACA391622165NOP10c.55-22C>T (n.55-22C>T)
c.94C>T (p.His32Tyr)
c.91C>T (p.His31Tyr)
c.115C>T (p.His39Tyr)
c.25C>T (p.His9Tyr)
c.76C>T (p.His26Tyr)
n.260-22C>T
ClinVar
15g.34342072G>CCA391622166NOP10c.55-22C>G (n.55-22C>G)
c.94C>G (p.His32Asp)
c.91C>G (p.His31Asp)
c.115C>G (p.His39Asp)
c.25C>G (p.His9Asp)
c.76C>G (p.His26Asp)
n.260-22C>G
15g.34342072G>TCA391622167NOP10c.55-22C>A (n.55-22C>A)
c.94C>A (p.His32Asn)
c.91C>A (p.His31Asn)
c.115C>A (p.His39Asn)
c.25C>A (p.His9Asn)
c.76C>A (p.His26Asn)
n.260-22C>A
gnomAD v4
15g.34342073G>ACA489410067NOP10c.55-23C>T (n.55-23C>T)
c.93C>T (p.Ala31=)
c.90C>T (p.Ala30=)
c.114C>T (p.Ala38=)
c.24C>T (p.Ala8=)
c.75C>T (p.Ala25=)
n.260-23C>T
gnomAD v4
15g.34342073G>CCA489410069NOP10c.55-23C>G (n.55-23C>G)
c.93C>G (p.Ala31=)
c.90C>G (p.Ala30=)
c.114C>G (p.Ala38=)
c.24C>G (p.Ala8=)
c.75C>G (p.Ala25=)
n.260-23C>G
15g.34342073G>TCA489410068NOP10c.55-23C>A (n.55-23C>A)
c.93C>A (p.Ala31=)
c.90C>A (p.Ala30=)
c.114C>A (p.Ala38=)
c.24C>A (p.Ala8=)
c.75C>A (p.Ala25=)
n.260-23C>A
15g.34342074G>ACA391622168NOP10c.55-24C>T (n.55-24C>T)
c.92C>T (p.Ala31Val)
c.89C>T (p.Ala30Val)
c.113C>T (p.Ala38Val)
c.23C>T (p.Ala8Val)
c.74C>T (p.Ala25Val)
n.260-24C>T
COSMIC
15g.34342074G>CCA7464778NOP10c.55-24C>G (n.55-24C>G)
c.92C>G (p.Ala31Gly)
c.89C>G (p.Ala30Gly)
c.113C>G (p.Ala38Gly)
c.23C>G (p.Ala8Gly)
c.74C>G (p.Ala25Gly)
n.260-24C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.34342074G>TCA391622169NOP10c.55-24C>A (n.55-24C>A)
c.92C>A (p.Ala31Asp)
c.89C>A (p.Ala30Asp)
c.113C>A (p.Ala38Asp)
c.23C>A (p.Ala8Asp)
c.74C>A (p.Ala25Asp)
n.260-24C>A
ClinVar dbSNP gnomAD v2 gnomAD v4
15g.34342075C>ACA391622170NOP10c.55-25G>T (n.55-25G>T)
c.91G>T (p.Ala31Ser)
c.88G>T (p.Ala30Ser)
c.112G>T (p.Ala38Ser)
c.22G>T (p.Ala8Ser)
c.73G>T (p.Ala25Ser)
n.260-25G>T
15g.34342075C>GCA391622171NOP10c.55-25G>C (n.55-25G>C)
c.91G>C (p.Ala31Pro)
c.88G>C (p.Ala30Pro)
c.112G>C (p.Ala38Pro)
c.22G>C (p.Ala8Pro)
c.73G>C (p.Ala25Pro)
n.260-25G>C
15g.34342075C>TCA391622172NOP10c.55-25G>A (n.55-25G>A)
c.91G>A (p.Ala31Thr)
c.88G>A (p.Ala30Thr)
c.112G>A (p.Ala38Thr)
c.22G>A (p.Ala8Thr)
c.73G>A (p.Ala25Thr)
n.260-25G>A
15g.34342076T>ACA489410073NOP10c.55-26A>T (n.55-26A>T)
c.90A>T (p.Ser30=)
c.87A>T (p.Ser29=)
c.111A>T (p.Ser37=)
c.21A>T (p.Ser7=)
c.72A>T (p.Ser24=)
n.260-26A>T
gnomAD v4
15g.34342076T>CCA489410072NOP10c.55-26A>G (n.55-26A>G)
c.90A>G (p.Ser30=)
c.87A>G (p.Ser29=)
c.111A>G (p.Ser37=)
c.21A>G (p.Ser7=)
c.72A>G (p.Ser24=)
n.260-26A>G
15g.34342076T>GCA489410071NOP10c.55-26A>C (n.55-26A>C)
c.90A>C (p.Ser30=)
c.87A>C (p.Ser29=)
c.111A>C (p.Ser37=)
c.21A>C (p.Ser7=)
c.72A>C (p.Ser24=)
n.260-26A>C
15g.34342077G>ACA391622173NOP10c.55-27C>T (n.55-27C>T)
c.89C>T (p.Ser30Leu)
c.86C>T (p.Ser29Leu)
c.110C>T (p.Ser37Leu)
c.20C>T (p.Ser7Leu)
c.71C>T (p.Ser24Leu)
n.260-27C>T
15g.34342077G>CCA391622174NOP10c.55-27C>G (n.55-27C>G)
c.89C>G (p.Ser30Ter)
c.86C>G (p.Ser29Ter)
c.110C>G (p.Ser37Ter)
c.20C>G (p.Ser7Ter)
c.71C>G (p.Ser24Ter)
n.260-27C>G
15g.34342077G>TCA391622175NOP10c.55-27C>A (n.55-27C>A)
c.89C>A (p.Ser30Ter)
c.86C>A (p.Ser29Ter)
c.110C>A (p.Ser37Ter)
c.20C>A (p.Ser7Ter)
c.71C>A (p.Ser24Ter)
n.260-27C>A
15g.34342078A>CCA391622177NOP10c.55-28T>G (n.55-28T>G)
c.88T>G (p.Ser30Ala)
c.85T>G (p.Ser29Ala)
c.109T>G (p.Ser37Ala)
c.19T>G (p.Ser7Ala)
c.70T>G (p.Ser24Ala)
n.260-28T>G
15g.34342078A>GCA391622178NOP10c.55-28T>C (n.55-28T>C)
c.88T>C (p.Ser30Pro)
c.85T>C (p.Ser29Pro)
c.109T>C (p.Ser37Pro)
c.19T>C (p.Ser7Pro)
c.70T>C (p.Ser24Pro)
n.260-28T>C
15g.34342078A>TCA391622176NOP10c.55-28T>A (n.55-28T>A)
c.88T>A (p.Ser30Thr)
c.85T>A (p.Ser29Thr)
c.109T>A (p.Ser37Thr)
c.19T>A (p.Ser7Thr)
c.70T>A (p.Ser24Thr)
n.260-28T>A
gnomAD v4
15g.34342079G>ACA489410075NOP10c.55-29C>T (n.55-29C>T)
c.87C>T (p.Cys29=)
c.84C>T (p.Cys28=)
c.108C>T (p.Cys36=)
c.18C>T (p.Cys6=)
c.69C>T (p.Cys23=)
n.260-29C>T
15g.34342079G>CCA391622179NOP10c.55-29C>G (n.55-29C>G)
c.87C>G (p.Cys29Trp)
c.84C>G (p.Cys28Trp)
c.108C>G (p.Cys36Trp)
c.18C>G (p.Cys6Trp)
c.69C>G (p.Cys23Trp)
n.260-29C>G
15g.34342079G>TCA391622180NOP10c.55-29C>A (n.55-29C>A)
c.87C>A (p.Cys29Ter)
c.84C>A (p.Cys28Ter)
c.108C>A (p.Cys36Ter)
c.18C>A (p.Cys6Ter)
c.69C>A (p.Cys23Ter)
n.260-29C>A
15g.34342080C>ACA391622181NOP10c.55-30G>T (n.55-30G>T)
c.86G>T (p.Cys29Phe)
c.83G>T (p.Cys28Phe)
c.107G>T (p.Cys36Phe)
c.17G>T (p.Cys6Phe)
c.68G>T (p.Cys23Phe)
n.260-30G>T
15g.34342080C>GCA391622182NOP10c.55-30G>C (n.55-30G>C)
c.86G>C (p.Cys29Ser)
c.83G>C (p.Cys28Ser)
c.107G>C (p.Cys36Ser)
c.17G>C (p.Cys6Ser)
c.68G>C (p.Cys23Ser)
n.260-30G>C
15g.34342080C>TCA391622183NOP10c.55-30G>A (n.55-30G>A)
c.86G>A (p.Cys29Tyr)
c.83G>A (p.Cys28Tyr)
c.107G>A (p.Cys36Tyr)
c.17G>A (p.Cys6Tyr)
c.68G>A (p.Cys23Tyr)
n.260-30G>A
15g.34342081delCA2627640131NOP10c.55-31del (n.55-31del)
c.85del (p.Cys29AlafsTer29)
c.82del (p.Cys28AlafsTer?)
c.106del (p.Cys36AlafsTer29)
c.16del (p.Cys6AlafsTer29)
c.67del (p.Cys23AlafsTer29)
n.260-31del
c.82del (p.Cys28AlafsTer29)
gnomAD v4
15g.34342081A>CCA391622184NOP10c.55-31T>G (n.55-31T>G)
c.85T>G (p.Cys29Gly)
c.82T>G (p.Cys28Gly)
c.106T>G (p.Cys36Gly)
c.16T>G (p.Cys6Gly)
c.67T>G (p.Cys23Gly)
n.260-31T>G
15g.34342081A>GCA391622185NOP10c.55-31T>C (n.55-31T>C)
c.85T>C (p.Cys29Arg)
c.82T>C (p.Cys28Arg)
c.106T>C (p.Cys36Arg)
c.16T>C (p.Cys6Arg)
c.67T>C (p.Cys23Arg)
n.260-31T>C
COSMIC
15g.34342081A>TCA391622186NOP10c.55-31T>A (n.55-31T>A)
c.85T>A (p.Cys29Ser)
c.82T>A (p.Cys28Ser)
c.106T>A (p.Cys36Ser)
c.16T>A (p.Cys6Ser)
c.67T>A (p.Cys23Ser)
n.260-31T>A
15g.34342082G>ACA489410076NOP10c.55-32C>T (n.55-32C>T)
c.84C>T (p.Thr28=)
c.81C>T (p.Thr27=)
c.105C>T (p.Thr35=)
c.15C>T (p.Thr5=)
c.66C>T (p.Thr22=)
n.260-32C>T
dbSNP gnomAD v2 gnomAD v4
15g.34342082G>CCA489410077NOP10c.55-32C>G (n.55-32C>G)
c.84C>G (p.Thr28=)
c.81C>G (p.Thr27=)
c.105C>G (p.Thr35=)
c.15C>G (p.Thr5=)
c.66C>G (p.Thr22=)
n.260-32C>G
15g.34342082G>TCA489410078NOP10c.55-32C>A (n.55-32C>A)
c.84C>A (p.Thr28=)
c.81C>A (p.Thr27=)
c.105C>A (p.Thr35=)
c.15C>A (p.Thr5=)
c.66C>A (p.Thr22=)
n.260-32C>A
15g.34342083G>ACA391622187NOP10c.55-33C>T (n.55-33C>T)
c.83C>T (p.Thr28Ile)
c.80C>T (p.Thr27Ile)
c.104C>T (p.Thr35Ile)
c.14C>T (p.Thr5Ile)
c.65C>T (p.Thr22Ile)
n.260-33C>T
gnomAD v4
15g.34342083G>CCA391622188NOP10c.55-33C>G (n.55-33C>G)
c.83C>G (p.Thr28Ser)
c.80C>G (p.Thr27Ser)
c.104C>G (p.Thr35Ser)
c.14C>G (p.Thr5Ser)
c.65C>G (p.Thr22Ser)
n.260-33C>G
15g.34342083G>TCA391622189NOP10c.55-33C>A (n.55-33C>A)
c.83C>A (p.Thr28Asn)
c.80C>A (p.Thr27Asn)
c.104C>A (p.Thr35Asn)
c.14C>A (p.Thr5Asn)
c.65C>A (p.Thr22Asn)
n.260-33C>A
gnomAD v4
15g.34342084T>ACA391622190NOP10c.55-34A>T (n.55-34A>T)
c.82A>T (p.Thr28Ser)
c.79A>T (p.Thr27Ser)
c.103A>T (p.Thr35Ser)
c.13A>T (p.Thr5Ser)
c.64A>T (p.Thr22Ser)
n.260-34A>T
15g.34342084T>CCA391622191NOP10c.55-34A>G (n.55-34A>G)
c.82A>G (p.Thr28Ala)
c.79A>G (p.Thr27Ala)
c.103A>G (p.Thr35Ala)
c.13A>G (p.Thr5Ala)
c.64A>G (p.Thr22Ala)
n.260-34A>G
15g.34342084T>GCA391622192NOP10c.55-34A>C (n.55-34A>C)
c.82A>C (p.Thr28Pro)
c.79A>C (p.Thr27Pro)
c.103A>C (p.Thr35Pro)
c.13A>C (p.Thr5Pro)
c.64A>C (p.Thr22Pro)
n.260-34A>C
15g.34342085C>ACA391622194NOP10c.55-35G>T (n.55-35G>T)
c.81G>T (p.Gln27His)
c.78G>T (p.Gln26His)
c.102G>T (p.Gln34His)
c.12G>T (p.Gln4His)
c.63G>T (p.Gln21His)
n.260-35G>T
15g.34342085C>GCA391622193NOP10c.55-35G>C (n.55-35G>C)
c.81G>C (p.Gln27His)
c.78G>C (p.Gln26His)
c.102G>C (p.Gln34His)
c.12G>C (p.Gln4His)
c.63G>C (p.Gln21His)
n.260-35G>C
15g.34342085C>TCA489410079NOP10c.55-35G>A (n.55-35G>A)
c.81G>A (p.Gln27=)
c.78G>A (p.Gln26=)
c.102G>A (p.Gln34=)
c.12G>A (p.Gln4=)
c.63G>A (p.Gln21=)
n.260-35G>A
dbSNP gnomAD v2 gnomAD v4
15g.34342086T>ACA391622195NOP10c.55-36A>T (n.55-36A>T)
c.80A>T (p.Gln27Leu)
c.77A>T (p.Gln26Leu)
c.101A>T (p.Gln34Leu)
c.11A>T (p.Gln4Leu)
c.62A>T (p.Gln21Leu)
n.260-36A>T
15g.34342086T>CCA391622196NOP10c.55-36A>G (n.55-36A>G)
c.80A>G (p.Gln27Arg)
c.77A>G (p.Gln26Arg)
c.101A>G (p.Gln34Arg)
c.11A>G (p.Gln4Arg)
c.62A>G (p.Gln21Arg)
n.260-36A>G
15g.34342086T>GCA391622197NOP10c.55-36A>C (n.55-36A>C)
c.80A>C (p.Gln27Pro)
c.77A>C (p.Gln26Pro)
c.101A>C (p.Gln34Pro)
c.11A>C (p.Gln4Pro)
c.62A>C (p.Gln21Pro)
n.260-36A>C
15g.34342087_34342088delCA2580089262NOP10c.55-37_55-36del (n.55-37_55-36del)
c.79_80del (p.Gln27AspfsTer13)
c.76_77del (p.Gln26AspfsTer13)
c.100_101del (p.Gln34AspfsTer13)
c.10_11del (p.Gln4AspfsTer13)
c.61_62del (p.Gln21AspfsTer13)
n.260-37_260-36del
ClinVar
15g.34342087G>ACA391622198NOP10c.55-37C>T (n.55-37C>T)
c.79C>T (p.Gln27Ter)
c.76C>T (p.Gln26Ter)
c.100C>T (p.Gln34Ter)
c.10C>T (p.Gln4Ter)
c.61C>T (p.Gln21Ter)
n.260-37C>T
gnomAD v4
15g.34342087G>CCA391622199NOP10c.55-37C>G (n.55-37C>G)
c.79C>G (p.Gln27Glu)
c.76C>G (p.Gln26Glu)
c.100C>G (p.Gln34Glu)
c.10C>G (p.Gln4Glu)
c.61C>G (p.Gln21Glu)
n.260-37C>G
15g.34342087G>TCA391622200NOP10c.55-37C>A (n.55-37C>A)
c.79C>A (p.Gln27Lys)
c.76C>A (p.Gln26Lys)
c.100C>A (p.Gln34Lys)
c.10C>A (p.Gln4Lys)
c.61C>A (p.Gln21Lys)
n.260-37C>A
15g.34342088T>ACA7464779NOP10c.55-38A>T (n.55-38A>T)
c.78A>T (p.Gln26His)
c.75A>T (p.Gln25His)
c.99A>T (p.Gln33His)
c.9A>T (p.Gln3His)
c.60A>T (p.Gln20His)
n.260-38A>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.34342088T>CCA489410080NOP10c.55-38A>G (n.55-38A>G)
c.78A>G (p.Gln26=)
c.75A>G (p.Gln25=)
c.99A>G (p.Gln33=)
c.9A>G (p.Gln3=)
c.60A>G (p.Gln20=)
n.260-38A>G
15g.34342088T>GCA391622201NOP10c.55-38A>C (n.55-38A>C)
c.78A>C (p.Gln26His)
c.75A>C (p.Gln25His)
c.99A>C (p.Gln33His)
c.9A>C (p.Gln3His)
c.60A>C (p.Gln20His)
n.260-38A>C
15g.34342089T>ACA391622202NOP10c.55-39A>T (n.55-39A>T)
c.77A>T (p.Gln26Leu)
c.74A>T (p.Gln25Leu)
c.98A>T (p.Gln33Leu)
c.8A>T (p.Gln3Leu)
c.59A>T (p.Gln20Leu)
n.260-39A>T
15g.34342089T>CCA391622203NOP10c.55-39A>G (n.55-39A>G)
c.77A>G (p.Gln26Arg)
c.74A>G (p.Gln25Arg)
c.98A>G (p.Gln33Arg)
c.8A>G (p.Gln3Arg)
c.59A>G (p.Gln20Arg)
n.260-39A>G
15g.34342089T>GCA391622204NOP10c.55-39A>C (n.55-39A>C)
c.77A>C (p.Gln26Pro)
c.74A>C (p.Gln25Pro)
c.98A>C (p.Gln33Pro)
c.8A>C (p.Gln3Pro)
c.59A>C (p.Gln20Pro)
n.260-39A>C
15g.34342090delCA2627640132NOP10c.55-40del (n.55-40del)
c.76del (p.Gln26AsnfsTer?)
c.73del (p.Gln25AsnfsTer?)
c.97del (p.Gln33AsnfsTer?)
c.7del (p.Gln3AsnfsTer?)
c.58del (p.Gln20AsnfsTer?)
n.260-40del
gnomAD v4
15g.34342090G>ACA391622205NOP10c.55-40C>T (n.55-40C>T)
c.76C>T (p.Gln26Ter)
c.73C>T (p.Gln25Ter)
c.97C>T (p.Gln33Ter)
c.7C>T (p.Gln3Ter)
c.58C>T (p.Gln20Ter)
n.260-40C>T
15g.34342090G>CCA268645354NOP10c.55-40C>G (n.55-40C>G)
c.76C>G (p.Gln26Glu)
c.73C>G (p.Gln25Glu)
c.97C>G (p.Gln33Glu)
c.7C>G (p.Gln3Glu)
c.58C>G (p.Gln20Glu)
n.260-40C>G
dbSNP
15g.34342090G>TCA391622206NOP10c.55-40C>A (n.55-40C>A)
c.76C>A (p.Gln26Lys)
c.73C>A (p.Gln25Lys)
c.97C>A (p.Gln33Lys)
c.7C>A (p.Gln3Lys)
c.58C>A (p.Gln20Lys)
n.260-40C>A
15g.34342091T>ACA489410081NOP10c.55-41A>T (n.55-41A>T)
c.75A>T (p.Gly25=)
c.72A>T (p.Gly24=)
c.96A>T (p.Gly32=)
c.6A>T (p.Gly2=)
c.57A>T (p.Gly19=)
n.260-41A>T
15g.34342091T>CCA489410082NOP10c.55-41A>G (n.55-41A>G)
c.75A>G (p.Gly25=)
c.72A>G (p.Gly24=)
c.96A>G (p.Gly32=)
c.6A>G (p.Gly2=)
c.57A>G (p.Gly19=)
n.260-41A>G
15g.34342091T>GCA489410083NOP10c.55-41A>C (n.55-41A>C)
c.75A>C (p.Gly25=)
c.72A>C (p.Gly24=)
c.96A>C (p.Gly32=)
c.6A>C (p.Gly2=)
c.57A>C (p.Gly19=)
n.260-41A>C
15g.34342092C>ACA391622207NOP10c.55-42G>T (n.55-42G>T)
c.74G>T (p.Gly25Val)
c.71G>T (p.Gly24Val)
c.95G>T (p.Gly32Val)
c.5G>T (p.Gly2Val)
c.56G>T (p.Gly19Val)
n.260-42G>T
15g.34342092C>GCA391622209NOP10c.55-42G>C (n.55-42G>C)
c.74G>C (p.Gly25Ala)
c.71G>C (p.Gly24Ala)
c.95G>C (p.Gly32Ala)
c.5G>C (p.Gly2Ala)
c.56G>C (p.Gly19Ala)
n.260-42G>C
gnomAD v4
15g.34342092C>TCA391622208NOP10c.55-42G>A (n.55-42G>A)
c.74G>A (p.Gly25Glu)
c.71G>A (p.Gly24Glu)
c.95G>A (p.Gly32Glu)
c.5G>A (p.Gly2Glu)
c.56G>A (p.Gly19Glu)
n.260-42G>A
gnomAD v4
15g.34342093C>ACA391622210NOP10c.55-43G>T (n.55-43G>T)
c.73G>T (p.Gly25Ter)
c.70G>T (p.Gly24Ter)
c.94G>T (p.Gly32Ter)
c.4G>T (p.Gly2Ter)
c.55G>T (p.Gly19Ter)
n.260-43G>T
15g.34342093C>GCA7464780NOP10c.55-43G>C (n.55-43G>C)
c.73G>C (p.Gly25Arg)
c.70G>C (p.Gly24Arg)
c.94G>C (p.Gly32Arg)
c.4G>C (p.Gly2Arg)
c.55G>C (p.Gly19Arg)
n.260-43G>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.34342093C>TCA391622211NOP10c.55-43G>A (n.55-43G>A)
c.73G>A (p.Gly25Arg)
c.70G>A (p.Gly24Arg)
c.94G>A (p.Gly32Arg)
c.4G>A (p.Gly2Arg)
c.55G>A (p.Gly19Arg)
n.260-43G>A
15g.34342094C>ACA391622212NOP10c.55-44G>T (n.55-44G>T)
c.72G>T (p.Met24Ile)
c.69G>T (p.Met23Ile)
c.93G>T (p.Met31Ile)
c.3G>T (p.Met1Ile)
c.54G>T (p.Met18Ile)
n.260-44G>T
15g.34342094C>GCA391622213NOP10c.55-44G>C (n.55-44G>C)
c.72G>C (p.Met24Ile)
c.69G>C (p.Met23Ile)
c.93G>C (p.Met31Ile)
c.3G>C (p.Met1Ile)
c.54G>C (p.Met18Ile)
n.260-44G>C
15g.34342094C>TCA268645366NOP10c.55-44G>A (n.55-44G>A)
c.72G>A (p.Met24Ile)
c.69G>A (p.Met23Ile)
c.93G>A (p.Met31Ile)
c.3G>A (p.Met1Ile)
c.54G>A (p.Met18Ile)
n.260-44G>A
dbSNP gnomAD v3 gnomAD v4
15g.34342095A>CCA391622214NOP10c.55-45T>G (n.55-45T>G)
c.71T>G (p.Met24Arg)
c.68T>G (p.Met23Arg)
c.92T>G (p.Met31Arg)
c.2T>G (p.Met1Arg)
c.53T>G (p.Met18Arg)
n.260-45T>G
gnomAD v4
15g.34342095A>GCA391622215NOP10c.55-45T>C (n.55-45T>C)
c.71T>C (p.Met24Thr)
c.68T>C (p.Met23Thr)
c.92T>C (p.Met31Thr)
c.2T>C (p.Met1Thr)
c.53T>C (p.Met18Thr)
n.260-45T>C
dbSNP gnomAD v3 gnomAD v4
15g.34342095A>TCA391622216NOP10c.55-45T>A (n.55-45T>A)
c.71T>A (p.Met24Lys)
c.68T>A (p.Met23Lys)
c.92T>A (p.Met31Lys)
c.2T>A (p.Met1Lys)
c.53T>A (p.Met18Lys)
n.260-45T>A
15g.34342096T>ACA391622217NOP10c.55-46A>T (n.55-46A>T)
c.70A>T (p.Met24Leu)
c.67A>T (p.Met23Leu)
c.91A>T (p.Met31Leu)
c.1A>T (p.Met1Leu)
c.52A>T (p.Met18Leu)
n.260-46A>T
15g.34342096T>CCA391622218NOP10c.55-46A>G (n.55-46A>G)
c.70A>G (p.Met24Val)
c.67A>G (p.Met23Val)
c.91A>G (p.Met31Val)
c.1A>G (p.Met1Val)
c.52A>G (p.Met18Val)
n.260-46A>G
15g.34342096T>GCA391622219NOP10c.55-46A>C (n.55-46A>C)
c.70A>C (p.Met24Leu)
c.67A>C (p.Met23Leu)
c.91A>C (p.Met31Leu)
c.1A>C (p.Met1Leu)
c.52A>C (p.Met18Leu)
n.260-46A>C
15g.34342097C>ACA489410086NOP10c.55-47G>T (n.55-47G>T)
c.69G>T (p.Pro23=)
c.66G>T (p.Pro22=)
c.90G>T (p.Pro30=)
c.-1G>T (n.-1G>T)
c.51G>T (p.Pro17=)
n.260-47G>T
gnomAD v4
15g.34342097C>GCA489410085NOP10c.55-47G>C (n.55-47G>C)
c.69G>C (p.Pro23=)
c.66G>C (p.Pro22=)
c.90G>C (p.Pro30=)
c.-1G>C (n.-1G>C)
c.51G>C (p.Pro17=)
n.260-47G>C
COSMIC
15g.34342097C>TCA489410084NOP10c.55-47G>A (n.55-47G>A)
c.69G>A (p.Pro23=)
c.66G>A (p.Pro22=)
c.90G>A (p.Pro30=)
c.-1G>A (n.-1G>A)
c.51G>A (p.Pro17=)
n.260-47G>A
dbSNP
15g.34342098G>ACA391622221NOP10c.55-48C>T (n.55-48C>T)
c.68C>T (p.Pro23Leu)
c.65C>T (p.Pro22Leu)
c.89C>T (p.Pro30Leu)
c.-2C>T (n.-2C>T)
c.50C>T (p.Pro17Leu)
n.260-48C>T
COSMIC
15g.34342098G>CCA391622222NOP10c.55-48C>G (n.55-48C>G)
c.68C>G (p.Pro23Arg)
c.65C>G (p.Pro22Arg)
c.89C>G (p.Pro30Arg)
c.-2C>G (n.-2C>G)
c.50C>G (p.Pro17Arg)
n.260-48C>G
15g.34342098G>TCA391622220NOP10c.55-48C>A (n.55-48C>A)
c.68C>A (p.Pro23Gln)
c.65C>A (p.Pro22Gln)
c.89C>A (p.Pro30Gln)
c.-2C>A (n.-2C>A)
c.50C>A (p.Pro17Gln)
n.260-48C>A
15g.34342099G>ACA391622223NOP10c.55-49C>T (n.55-49C>T)
c.67C>T (p.Pro23Ser)
c.64C>T (p.Pro22Ser)
c.88C>T (p.Pro30Ser)
c.-3C>T (n.-3C>T)
c.49C>T (p.Pro17Ser)
n.260-49C>T
ClinVar dbSNP gnomAD v3 gnomAD v4
15g.34342099G>CCA391622224NOP10c.55-49C>G (n.55-49C>G)
c.67C>G (p.Pro23Ala)
c.64C>G (p.Pro22Ala)
c.88C>G (p.Pro30Ala)
c.-3C>G (n.-3C>G)
c.49C>G (p.Pro17Ala)
n.260-49C>G
dbSNP
15g.34342099G>TCA391622225NOP10c.55-49C>A (n.55-49C>A)
c.67C>A (p.Pro23Thr)
c.64C>A (p.Pro22Thr)
c.88C>A (p.Pro30Thr)
c.-3C>A (n.-3C>A)
c.49C>A (p.Pro17Thr)
n.260-49C>A
15g.34342100G>ACA489410087NOP10c.55-50C>T (n.55-50C>T)
c.66C>T (p.Asp22=)
c.63C>T (p.Asp21=)
c.87C>T (p.Asp29=)
c.-4C>T (n.-4C>T)
c.48C>T (p.Asp16=)
n.260-50C>T
15g.34342100G>CCA391622226NOP10c.55-50C>G (n.55-50C>G)
c.66C>G (p.Asp22Glu)
c.63C>G (p.Asp21Glu)
c.87C>G (p.Asp29Glu)
c.-4C>G (n.-4C>G)
c.48C>G (p.Asp16Glu)
n.260-50C>G
15g.34342100G>TCA391622227NOP10c.55-50C>A (n.55-50C>A)
c.66C>A (p.Asp22Glu)
c.63C>A (p.Asp21Glu)
c.87C>A (p.Asp29Glu)
c.-4C>A (n.-4C>A)
c.48C>A (p.Asp16Glu)
n.260-50C>A
15g.34342101T>ACA391622230NOP10c.55-51A>T (n.55-51A>T)
c.65A>T (p.Asp22Val)
c.62A>T (p.Asp21Val)
c.86A>T (p.Asp29Val)
c.-5A>T (n.-5A>T)
c.47A>T (p.Asp16Val)
n.260-51A>T
15g.34342101T>CCA391622228NOP10c.55-51A>G (n.55-51A>G)
c.65A>G (p.Asp22Gly)
c.62A>G (p.Asp21Gly)
c.86A>G (p.Asp29Gly)
c.-5A>G (n.-5A>G)
c.47A>G (p.Asp16Gly)
n.260-51A>G
15g.34342101T>GCA391622229NOP10c.55-51A>C (n.55-51A>C)
c.65A>C (p.Asp22Ala)
c.62A>C (p.Asp21Ala)
c.86A>C (p.Asp29Ala)
c.-5A>C (n.-5A>C)
c.47A>C (p.Asp16Ala)
n.260-51A>C
15g.34342102C>ACA391622231NOP10c.55-52G>T (n.55-52G>T)
c.64G>T (p.Asp22Tyr)
c.61G>T (p.Asp21Tyr)
c.85G>T (p.Asp29Tyr)
c.-6G>T (n.-6G>T)
c.46G>T (p.Asp16Tyr)
n.260-52G>T
15g.34342102C>GCA391622232NOP10c.55-52G>C (n.55-52G>C)
c.64G>C (p.Asp22His)
c.61G>C (p.Asp21His)
c.85G>C (p.Asp29His)
c.-6G>C (n.-6G>C)
c.46G>C (p.Asp16His)
n.260-52G>C
15g.34342102C>TCA391622233NOP10c.55-52G>A (n.55-52G>A)
c.64G>A (p.Asp22Asn)
c.61G>A (p.Asp21Asn)
c.85G>A (p.Asp29Asn)
c.-6G>A (n.-6G>A)
c.46G>A (p.Asp16Asn)
n.260-52G>A
dbSNP gnomAD v2
15g.34342103A>CCA391622234NOP10c.55-53T>G (n.55-53T>G)
c.63T>G (p.Phe21Leu)
c.60T>G (p.Phe20Leu)
c.84T>G (p.Phe28Leu)
c.-7T>G (n.-7T>G)
c.45T>G (p.Phe15Leu)
n.260-53T>G
15g.34342103A>GCA489410088NOP10c.55-53T>C (n.55-53T>C)
c.63T>C (p.Phe21=)
c.60T>C (p.Phe20=)
c.84T>C (p.Phe28=)
c.-7T>C (n.-7T>C)
c.45T>C (p.Phe15=)
n.260-53T>C
15g.34342103A>TCA391622235NOP10c.55-53T>A (n.55-53T>A)
c.63T>A (p.Phe21Leu)
c.60T>A (p.Phe20Leu)
c.84T>A (p.Phe28Leu)
c.-7T>A (n.-7T>A)
c.45T>A (p.Phe15Leu)
n.260-53T>A
15g.34342104A>CCA391622238NOP10c.55-54T>G (n.55-54T>G)
c.62T>G (p.Phe21Cys)
c.59T>G (p.Phe20Cys)
c.83T>G (p.Phe28Cys)
c.-8T>G (n.-8T>G)
c.44T>G (p.Phe15Cys)
n.260-54T>G
gnomAD v4
15g.34342104A>GCA391622237NOP10c.55-54T>C (n.55-54T>C)
c.62T>C (p.Phe21Ser)
c.59T>C (p.Phe20Ser)
c.83T>C (p.Phe28Ser)
c.-8T>C (n.-8T>C)
c.44T>C (p.Phe15Ser)
n.260-54T>C
15g.34342104A>TCA391622236NOP10c.55-54T>A (n.55-54T>A)
c.62T>A (p.Phe21Tyr)
c.59T>A (p.Phe20Tyr)
c.83T>A (p.Phe28Tyr)
c.-8T>A (n.-8T>A)
c.44T>A (p.Phe15Tyr)
n.260-54T>A
15g.34342105A>CCA391622239NOP10c.55-55T>G (n.55-55T>G)
c.61T>G (p.Phe21Val)
c.58T>G (p.Phe20Val)
c.82T>G (p.Phe28Val)
c.-9T>G (n.-9T>G)
c.43T>G (p.Phe15Val)
n.260-55T>G
15g.34342105A>GCA391622241NOP10c.55-55T>C (n.55-55T>C)
c.61T>C (p.Phe21Leu)
c.58T>C (p.Phe20Leu)
c.82T>C (p.Phe28Leu)
c.-9T>C (n.-9T>C)
c.43T>C (p.Phe15Leu)
n.260-55T>C
15g.34342105A>TCA391622240NOP10c.55-55T>A (n.55-55T>A)
c.61T>A (p.Phe21Ile)
c.58T>A (p.Phe20Ile)
c.82T>A (p.Phe28Ile)
c.-9T>A (n.-9T>A)
c.43T>A (p.Phe15Ile)
n.260-55T>A
15g.34342106T>ACA391622242NOP10c.55-56A>T (n.55-56A>T)
c.60A>T (p.Lys20Asn)
c.57A>T (p.Lys19Asn)
c.81A>T (p.Lys27Asn)
c.-10A>T (n.-10A>T)
c.42A>T (p.Lys14Asn)
n.260-56A>T
15g.34342106T>CCA489410089NOP10c.55-56A>G (n.55-56A>G)
c.60A>G (p.Lys20=)
c.57A>G (p.Lys19=)
c.81A>G (p.Lys27=)
c.-10A>G (n.-10A>G)
c.42A>G (p.Lys14=)
n.260-56A>G
gnomAD v4
15g.34342106T>GCA391622243NOP10c.55-56A>C (n.55-56A>C)
c.60A>C (p.Lys20Asn)
c.57A>C (p.Lys19Asn)
c.81A>C (p.Lys27Asn)
c.-10A>C (n.-10A>C)
c.42A>C (p.Lys14Asn)
n.260-56A>C
15g.34342107T>ACA391622244NOP10c.55-57A>T (n.55-57A>T)
c.59A>T (p.Lys20Ile)
c.56A>T (p.Lys19Ile)
c.80A>T (p.Lys27Ile)
c.-11A>T (n.-11A>T)
c.41A>T (p.Lys14Ile)
n.260-57A>T
15g.34342107T>CCA391622245NOP10c.55-57A>G (n.55-57A>G)
c.59A>G (p.Lys20Arg)
c.56A>G (p.Lys19Arg)
c.80A>G (p.Lys27Arg)
c.-11A>G (n.-11A>G)
c.41A>G (p.Lys14Arg)
n.260-57A>G
gnomAD v4
15g.34342107T>GCA391622246NOP10c.55-57A>C (n.55-57A>C)
c.59A>C (p.Lys20Thr)
c.56A>C (p.Lys19Thr)
c.80A>C (p.Lys27Thr)
c.-11A>C (n.-11A>C)
c.41A>C (p.Lys14Thr)
n.260-57A>C
15g.34342108T>ACA391622247NOP10c.55-58A>T (n.55-58A>T)
c.58A>T (p.Lys20Ter)
c.55A>T (p.Lys19Ter)
c.79A>T (p.Lys27Ter)
c.-12A>T (n.-12A>T)
c.40A>T (p.Lys14Ter)
n.260-58A>T
15g.34342108T>CCA391622248NOP10c.55-58A>G (n.55-58A>G)
c.58A>G (p.Lys20Glu)
c.55A>G (p.Lys19Glu)
c.79A>G (p.Lys27Glu)
c.-12A>G (n.-12A>G)
c.40A>G (p.Lys14Glu)
n.260-58A>G
15g.34342108T>GCA391622249NOP10c.55-58A>C (n.55-58A>C)
c.58A>C (p.Lys20Gln)
c.55A>C (p.Lys19Gln)
c.79A>C (p.Lys27Gln)
c.-12A>C (n.-12A>C)
c.40A>C (p.Lys14Gln)
n.260-58A>C
15g.34342109C>ACA391622250NOP10c.55-59G>T (n.55-59G>T)
c.57G>T (p.Gln19His)
c.55-1G>T (n.55-1G>T)
c.78G>T (p.Gln26His)
c.-12-1G>T (n.-12-1G>T)
c.40-1G>T (n.40-1G>T)
n.260-59G>T
dbSNP
15g.34342109C>GCA391622251NOP10c.55-59G>C (n.55-59G>C)
c.57G>C (p.Gln19His)
c.55-1G>C (n.55-1G>C)
c.78G>C (p.Gln26His)
c.-12-1G>C (n.-12-1G>C)
c.40-1G>C (n.40-1G>C)
n.260-59G>C
15g.34342109C>TCA268645367NOP10c.55-59G>A (n.55-59G>A)
c.57G>A (p.Gln19=)
c.55-1G>A (n.55-1G>A)
c.78G>A (p.Gln26=)
c.-12-1G>A (n.-12-1G>A)
c.40-1G>A (n.40-1G>A)
n.260-59G>A
dbSNP gnomAD v4
15g.34342110T>ACA391622252NOP10c.55-60A>T (n.55-60A>T)
c.56A>T (p.Gln19Leu)
c.55-2A>T (n.55-2A>T)
c.77A>T (p.Gln26Leu)
c.-12-2A>T (n.-12-2A>T)
c.40-2A>T (n.40-2A>T)
n.260-60A>T
15g.34342110T>CCA391622253NOP10c.55-60A>G (n.55-60A>G)
c.56A>G (p.Gln19Arg)
c.55-2A>G (n.55-2A>G)
c.77A>G (p.Gln26Arg)
c.-12-2A>G (n.-12-2A>G)
c.40-2A>G (n.40-2A>G)
n.260-60A>G
15g.34342110T>GCA391622254NOP10c.55-60A>C (n.55-60A>C)
c.56A>C (p.Gln19Pro)
c.55-2A>C (n.55-2A>C)
c.77A>C (p.Gln26Pro)
c.-12-2A>C (n.-12-2A>C)
c.40-2A>C (n.40-2A>C)
n.260-60A>C
15g.34342111G>CCA268645368NOP10c.55-61C>G (n.55-61C>G)
c.55C>G (p.Gln19Glu)
c.55-3C>G (n.55-3C>G)
c.76C>G (p.Gln26Glu)
c.-12-3C>G (n.-12-3C>G)
c.40-3C>G (n.40-3C>G)
n.260-61C>G
dbSNP
15g.34342111G>TCA268645372NOP10c.55-61C>A (n.55-61C>A)
c.55C>A (p.Gln19Lys)
c.55-3C>A (n.55-3C>A)
c.76C>A (p.Gln26Lys)
c.-12-3C>A (n.-12-3C>A)
c.40-3C>A (n.40-3C>A)
n.260-61C>A
dbSNP gnomAD v3 gnomAD v4
15g.34342112C>GCA2627640133NOP10c.55-62G>C (n.55-62G>C)
c.55-1G>C (n.55-1G>C)
c.55-4G>C (n.55-4G>C)
c.75G>C (p.Glu25Asp)
c.-12-4G>C (n.-12-4G>C)
c.40-4G>C (n.40-4G>C)
n.260-62G>C
dbSNP gnomAD v4
15g.34342112C>TCA2803708953NOP10c.55-62G>A (n.55-62G>A)
c.55-1G>A (n.55-1G>A)
c.55-4G>A (n.55-4G>A)
c.75G>A (p.Glu25=)
c.-12-4G>A (n.-12-4G>A)
c.40-4G>A (n.40-4G>A)
n.260-62G>A
15g.34342114C>TCA617188389NOP10c.55-64G>A (n.55-64G>A)
c.55-3G>A (n.55-3G>A)
c.55-6G>A (n.55-6G>A)
c.73G>A (p.Glu25Lys)
c.-12-6G>A (n.-12-6G>A)
c.40-6G>A (n.40-6G>A)
n.260-64G>A
dbSNP gnomAD v2 gnomAD v4
15g.34342116A>GCA712270916NOP10c.55-66T>C (n.55-66T>C)
c.55-5T>C (n.55-5T>C)
c.55-8T>C (n.55-8T>C)
c.71T>C (p.Leu24Pro)
c.-12-8T>C (n.-12-8T>C)
c.40-8T>C (n.40-8T>C)
n.260-66T>C
dbSNP gnomAD v3 gnomAD v4
15g.34342117G>ACA7464781NOP10c.55-67C>T (n.55-67C>T)
c.55-6C>T (n.55-6C>T)
c.55-9C>T (n.55-9C>T)
c.70C>T (p.Leu24=)
c.-12-9C>T (n.-12-9C>T)
c.40-9C>T (n.40-9C>T)
n.260-67C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.34342117G>CCA2575669051NOP10c.55-67C>G (n.55-67C>G)
c.55-6C>G (n.55-6C>G)
c.55-9C>G (n.55-9C>G)
c.70C>G (p.Leu24Val)
c.-12-9C>G (n.-12-9C>G)
c.40-9C>G (n.40-9C>G)
n.260-67C>G
dbSNP
15g.34342118G>ACA617188392NOP10c.55-68C>T (n.55-68C>T)
c.55-7C>T (n.55-7C>T)
c.55-10C>T (n.55-10C>T)
c.69C>T (p.Phe23=)
c.-12-10C>T (n.-12-10C>T)
c.40-10C>T (n.40-10C>T)
n.260-68C>T
ClinVar dbSNP gnomAD v2 gnomAD v4
15g.34342118G>TCA7464782NOP10c.55-68C>A (n.55-68C>A)
c.55-7C>A (n.55-7C>A)
c.55-10C>A (n.55-10C>A)
c.69C>A (p.Phe23Leu)
c.-12-10C>A (n.-12-10C>A)
c.40-10C>A (n.40-10C>A)
n.260-68C>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.34342119A>GCA7464783NOP10c.55-69T>C (n.55-69T>C)
c.55-8T>C (n.55-8T>C)
c.55-11T>C (n.55-11T>C)
c.68T>C (p.Phe23Ser)
c.-12-11T>C (n.-12-11T>C)
c.40-11T>C (n.40-11T>C)
n.260-69T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.34342119A>TCA2575669052NOP10c.55-69T>A (n.55-69T>A)
c.55-8T>A (n.55-8T>A)
c.55-11T>A (n.55-11T>A)
c.68T>A (p.Phe23Tyr)
c.-12-11T>A (n.-12-11T>A)
c.40-11T>A (n.40-11T>A)
n.260-69T>A
gnomAD v4
15g.34342123C>ACA2581207033NOP10c.55-73G>T (n.55-73G>T)
c.55-12G>T (n.55-12G>T)
c.55-15G>T (n.55-15G>T)
c.64G>T (p.Val22Leu)
c.-12-15G>T (n.-12-15G>T)
c.40-15G>T (n.40-15G>T)
n.260-73G>T
dbSNP
15g.34342123C=CA2581207031NOP10c.55-73G= (n.55-73G=)
c.55-12G= (n.55-12G=)
c.55-15G= (n.55-15G=)
c.64G= (p.Val22=)
c.-12-15G= (n.-12-15G=)
c.40-15G= (n.40-15G=)
n.260-73G=
15g.34342123C>GCA7464784NOP10c.55-73G>C (n.55-73G>C)
c.55-12G>C (n.55-12G>C)
c.55-15G>C (n.55-15G>C)
c.64G>C (p.Val22Leu)
c.-12-15G>C (n.-12-15G>C)
c.40-15G>C (n.40-15G>C)
n.260-73G>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.34342123C>TCA2581207032NOP10c.55-73G>A (n.55-73G>A)
c.55-12G>A (n.55-12G>A)
c.55-15G>A (n.55-15G>A)
c.64G>A (p.Val22Met)
c.-12-15G>A (n.-12-15G>A)
c.40-15G>A (n.40-15G>A)
n.260-73G>A
dbSNP gnomAD v4
15g.34342126A>CCA2627640135NOP10c.55-76T>G (n.55-76T>G)
c.55-15T>G (n.55-15T>G)
c.55-18T>G (n.55-18T>G)
c.61T>G (p.Ser21Ala)
c.-12-18T>G (n.-12-18T>G)
c.40-18T>G (n.40-18T>G)
n.260-76T>G
gnomAD v4
15g.34342127dupCA2627640134NOP10c.55-76dup (n.55-76dup)
c.55-15dup (n.55-15dup)
c.55-18dup (n.55-18dup)
c.61dup (p.Ser21PhefsTer9)
c.-12-18dup (n.-12-18dup)
c.40-18dup (n.40-18dup)
n.260-76dup
gnomAD v4
15g.34342128T>CCA2730850533NOP10c.55-78A>G (n.55-78A>G)
c.55-17A>G (n.55-17A>G)
c.55-20A>G (n.55-20A>G)
c.59A>G (p.His20Arg)
c.-12-20A>G (n.-12-20A>G)
c.40-20A>G (n.40-20A>G)
n.260-78A>G
dbSNP
15g.34342129G>ACA2627640136NOP10c.55-79C>T (n.55-79C>T)
c.55-18C>T (n.55-18C>T)
c.55-21C>T (n.55-21C>T)
c.58C>T (p.His20Tyr)
c.-12-21C>T (n.-12-21C>T)
c.40-21C>T (n.40-21C>T)
n.260-79C>T
gnomAD v4
15g.34342132_34342139delCA968547428NOP10c.55-86_55-79del (n.55-86_55-79del)
c.55-25_55-18del (n.55-25_55-18del)
c.55-28_55-21del (n.55-28_55-21del)
c.51_58del (p.Asp18PhefsTer9)
c.-12-28_-12-21del (n.-12-28_-12-21del)
c.40-28_40-21del (n.40-28_40-21del)
n.260-86_260-79del
dbSNP gnomAD v3 gnomAD v4
15g.34342130T>CCA2730643263NOP10c.55-80A>G (n.55-80A>G)
c.55-19A>G (n.55-19A>G)
c.55-22A>G (n.55-22A>G)
c.57A>G (p.Ile19Met)
c.-12-22A>G (n.-12-22A>G)
c.40-22A>G (n.40-22A>G)
n.260-80A>G
dbSNP
15g.34342131_34342133delCA7464785NOP10c.55-83_55-81del (n.55-83_55-81del)
c.55-22_55-20del (n.55-22_55-20del)
c.55-25_55-23del (n.55-25_55-23del)
c.54_56del (p.Asp18_Ile19delinsGlu)
c.-12-25_-12-23del (n.-12-25_-12-23del)
c.40-25_40-23del (n.40-25_40-23del)
n.260-83_260-81del
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.34342132delCA919528899NOP10c.55-82del (n.55-82del)
c.55-21del (n.55-21del)
c.55-24del (n.55-24del)
c.55del (p.Ile19TyrfsTer?)
c.-12-24del (n.-12-24del)
c.40-24del (n.40-24del)
n.260-82del
dbSNP gnomAD v4
15g.34342132T>CCA2627640137NOP10c.55-82A>G (n.55-82A>G)
c.55-21A>G (n.55-21A>G)
c.55-24A>G (n.55-24A>G)
c.55A>G (p.Ile19Val)
c.-12-24A>G (n.-12-24A>G)
c.40-24A>G (n.40-24A>G)
n.260-82A>G
gnomAD v4
15g.34342132_34342134delCA391622255NOP10c.55-84_55-82del (n.55-84_55-82del)
c.55-23_55-21del (n.55-23_55-21del)
c.55-26_55-24del (n.55-26_55-24del)
c.53_55del (p.Asp18_Ile19delinsVal)
c.-12-26_-12-24del (n.-12-26_-12-24del)
c.40-26_40-24del (n.40-26_40-24del)
n.260-84_260-82del
15g.34342135C>ACA2512595839NOP10c.55-85G>T (n.55-85G>T)
c.55-24G>T (n.55-24G>T)
c.55-27G>T (n.55-27G>T)
c.52G>T (p.Asp18Tyr)
c.-12-27G>T (n.-12-27G>T)
c.40-27G>T (n.40-27G>T)
n.260-85G>T
15g.34342136A>CCA617188396NOP10c.55-86T>G (n.55-86T>G)
c.55-25T>G (n.55-25T>G)
c.55-28T>G (n.55-28T>G)
c.51T>G (p.Thr17=)
c.-12-28T>G (n.-12-28T>G)
c.40-28T>G (n.40-28T>G)
n.260-86T>G
dbSNP gnomAD v2 gnomAD v4
15g.34342136A>GCA2627640138NOP10c.55-86T>C (n.55-86T>C)
c.55-25T>C (n.55-25T>C)
c.55-28T>C (n.55-28T>C)
c.51T>C (p.Thr17=)
c.-12-28T>C (n.-12-28T>C)
c.40-28T>C (n.40-28T>C)
n.260-86T>C
gnomAD v4
15g.34342138T>CCA7464786NOP10c.55-88A>G (n.55-88A>G)
c.55-27A>G (n.55-27A>G)
c.55-30A>G (n.55-30A>G)
c.49A>G (p.Thr17Ala)
c.-12-30A>G (n.-12-30A>G)
c.40-30A>G (n.40-30A>G)
n.260-88A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.34342138_34342139insCCA712270943NOP10c.55-89_55-88insG (n.55-89_55-88insG)
c.55-28_55-27insG (n.55-28_55-27insG)
c.55-31_55-30insG (n.55-31_55-30insG)
c.48_49insG (p.Thr17AspfsTer2)
c.-12-31_-12-30insG (n.-12-31_-12-30insG)
c.40-31_40-30insG (n.40-31_40-30insG)
n.260-89_260-88insG
dbSNP
15g.34342142G>ACA7464787NOP10c.55-92C>T (n.55-92C>T)
c.55-31C>T (n.55-31C>T)
c.55-34C>T (n.55-34C>T)
c.45C>T (p.Ser15=)
c.-12-34C>T (n.-12-34C>T)
c.40-34C>T (n.40-34C>T)
n.260-92C>T
dbSNP ExAC gnomAD v2 gnomAD v4
15g.34342144A>GCA2627640139NOP10c.55-94T>C (n.55-94T>C)
c.55-33T>C (n.55-33T>C)
c.55-36T>C (n.55-36T>C)
c.43T>C (p.Ser15Pro)
c.-12-36T>C (n.-12-36T>C)
c.40-36T>C (n.40-36T>C)
n.260-94T>C
gnomAD v4
15g.34342145G>ACA2627640140NOP10c.55-95C>T (n.55-95C>T)
c.55-34C>T (n.55-34C>T)
c.55-37C>T (n.55-37C>T)
c.42C>T (p.His14=)
c.-12-37C>T (n.-12-37C>T)
c.40-37C>T (n.40-37C>T)
n.260-95C>T
gnomAD v4
15g.34342145G>CCA2627640141NOP10c.55-95C>G (n.55-95C>G)
c.55-34C>G (n.55-34C>G)
c.55-37C>G (n.55-37C>G)
c.42C>G (p.His14Gln)
c.-12-37C>G (n.-12-37C>G)
c.40-37C>G (n.40-37C>G)
n.260-95C>G
gnomAD v4
15g.34342145G>TCA2627640142NOP10c.55-95C>A (n.55-95C>A)
c.55-34C>A (n.55-34C>A)
c.55-37C>A (n.55-37C>A)
c.42C>A (p.His14Gln)
c.-12-37C>A (n.-12-37C>A)
c.40-37C>A (n.40-37C>A)
n.260-95C>A
gnomAD v4
15g.34342146T>GCA968547440NOP10c.55-96A>C (n.55-96A>C)
c.55-35A>C (n.55-35A>C)
c.55-38A>C (n.55-38A>C)
c.41A>C (p.His14Pro)
c.-12-38A>C (n.-12-38A>C)
c.40-38A>C (n.40-38A>C)
n.260-96A>C
gnomAD v3 gnomAD v4
15g.34342147G>ACA7464788NOP10c.55-97C>T (n.55-97C>T)
c.55-36C>T (n.55-36C>T)
c.55-39C>T (n.55-39C>T)
c.40C>T (p.His14Tyr)
c.-12-39C>T (n.-12-39C>T)
c.40-39C>T (n.40-39C>T)
n.260-97C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.34342147G>CCA2627640143NOP10c.55-97C>G (n.55-97C>G)
c.55-36C>G (n.55-36C>G)
c.55-39C>G (n.55-39C>G)
c.40C>G (p.His14Asp)
c.-12-39C>G (n.-12-39C>G)
c.40-39C>G (n.40-39C>G)
n.260-97C>G
gnomAD v4
15g.34342148A>TCA712270945NOP10c.55-98T>A (n.55-98T>A)
c.55-37T>A (n.55-37T>A)
c.55-40T>A (n.55-40T>A)
c.39T>A (p.His13Gln)
c.-12-40T>A (n.-12-40T>A)
c.40-40T>A (n.40-40T>A)
n.260-98T>A
dbSNP
15g.34342148_34342149insCAGCA7464789NOP10c.55-99_55-98insCTG (n.55-99_55-98insCTG)
c.55-38_55-37insCTG (n.55-38_55-37insCTG)
c.55-41_55-40insCTG (n.55-41_55-40insCTG)
c.38_39insCTG (p.His13_His14insCys)
c.-12-41_-12-40insCTG (n.-12-41_-12-40insCTG)
c.40-41_40-40insCTG (n.40-41_40-40insCTG)
n.260-99_260-98insCTG
dbSNP ExAC gnomAD v2 gnomAD v4
15g.34342149T>ACA2627640144NOP10c.55-99A>T (n.55-99A>T)
c.55-38A>T (n.55-38A>T)
c.55-41A>T (n.55-41A>T)
c.38A>T (p.His13Leu)
c.-12-41A>T (n.-12-41A>T)
c.40-41A>T (n.40-41A>T)
n.260-99A>T
gnomAD v4
15g.34342149T>CCA712270948NOP10c.55-99A>G (n.55-99A>G)
c.55-38A>G (n.55-38A>G)
c.55-41A>G (n.55-41A>G)
c.38A>G (p.His13Arg)
c.-12-41A>G (n.-12-41A>G)
c.40-41A>G (n.40-41A>G)
n.260-99A>G
dbSNP gnomAD v3 gnomAD v4
15g.34342149T>GCA7464790NOP10c.55-99A>C (n.55-99A>C)
c.55-38A>C (n.55-38A>C)
c.55-41A>C (n.55-41A>C)
c.38A>C (p.His13Pro)
c.-12-41A>C (n.-12-41A>C)
c.40-41A>C (n.40-41A>C)
n.260-99A>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.34342150delCA7464791NOP10c.55-100del (n.55-100del)
c.55-39del (n.55-39del)
c.55-42del (n.55-42del)
c.37del (p.His13IlefsTer?)
c.-12-42del (n.-12-42del)
c.40-42del (n.40-42del)
n.260-100del
dbSNP ExAC gnomAD v2 gnomAD v4
15g.34342150G>TCA2627640145NOP10c.55-100C>A (n.55-100C>A)
c.55-39C>A (n.55-39C>A)
c.55-42C>A (n.55-42C>A)
c.37C>A (p.His13Asn)
c.-12-42C>A (n.-12-42C>A)
c.40-42C>A (n.40-42C>A)
n.260-100C>A
gnomAD v4
15g.34342153delCA656019843NOP10c.55-101del (n.55-101del)
c.55-40del (n.55-40del)
c.55-43del (n.55-43del)
c.36del (p.His13IlefsTer?)
c.-12-43del (n.-12-43del)
c.40-43del (n.40-43del)
n.260-101del
COSMIC
15g.34342152A>CCA7464792NOP10c.55-102T>G (n.55-102T>G)
c.55-41T>G (n.55-41T>G)
c.55-44T>G (n.55-44T>G)
c.35T>G (p.Phe12Cys)
c.-12-44T>G (n.-12-44T>G)
c.40-44T>G (n.40-44T>G)
n.260-102T>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.34342153A>GCA7464794NOP10c.55-103T>C (n.55-103T>C)
c.55-42T>C (n.55-42T>C)
c.55-45T>C (n.55-45T>C)
c.34T>C (p.Phe12Leu)
c.-12-45T>C (n.-12-45T>C)
c.40-45T>C (n.40-45T>C)
n.260-103T>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.34342154delCA7464793NOP10c.55-104del (n.55-104del)
c.55-43del (n.55-43del)
c.55-46del (n.55-46del)
c.33del (p.His13IlefsTer?)
c.-12-46del (n.-12-46del)
c.40-46del (n.40-46del)
n.260-104del
dbSNP ExAC gnomAD v2 gnomAD v4
15g.34342154T>ACA2730850546NOP10c.55-104A>T (n.55-104A>T)
c.55-43A>T (n.55-43A>T)
c.55-46A>T (n.55-46A>T)
c.33A>T (p.Pro11=)
c.-12-46A>T (n.-12-46A>T)
c.40-46A>T (n.40-46A>T)
n.260-104A>T
dbSNP
15g.34342154T>CCA2627640147NOP10c.55-104A>G (n.55-104A>G)
c.55-43A>G (n.55-43A>G)
c.55-46A>G (n.55-46A>G)
c.33A>G (p.Pro11=)
c.-12-46A>G (n.-12-46A>G)
c.40-46A>G (n.40-46A>G)
n.260-104A>G
gnomAD v4
15g.34342159_34342163delCA2627640146NOP10c.55-108_55-104del (n.55-108_55-104del)
c.55-47_55-43del (n.55-47_55-43del)
c.55-50_55-46del (n.55-50_55-46del)
c.29_33del (p.Thr10IlefsTer7)
c.-12-50_-12-46del (n.-12-50_-12-46del)
c.40-50_40-46del (n.40-50_40-46del)
n.260-108_260-104del
gnomAD v4
15g.34342155G>ACA2575669053NOP10c.55-105C>T (n.55-105C>T)
c.55-44C>T (n.55-44C>T)
c.55-47C>T (n.55-47C>T)
c.32C>T (p.Pro11Leu)
c.-12-47C>T (n.-12-47C>T)
c.40-47C>T (n.40-47C>T)
n.260-105C>T
dbSNP gnomAD v4
15g.34342155G>CCA2627640150NOP10c.55-105C>G (n.55-105C>G)
c.55-44C>G (n.55-44C>G)
c.55-47C>G (n.55-47C>G)
c.32C>G (p.Pro11Arg)
c.-12-47C>G (n.-12-47C>G)
c.40-47C>G (n.40-47C>G)
n.260-105C>G
gnomAD v4
15g.34342155G>TCA7464795NOP10c.55-105C>A (n.55-105C>A)
c.55-44C>A (n.55-44C>A)
c.55-47C>A (n.55-47C>A)
c.32C>A (p.Pro11Gln)
c.-12-47C>A (n.-12-47C>A)
c.40-47C>A (n.40-47C>A)
n.260-105C>A
dbSNP ExAC gnomAD v2 gnomAD v4
15g.34342158delCA2627640148NOP10c.55-105del (n.55-105del)
c.55-44del (n.55-44del)
c.55-47del (n.55-47del)
c.32del (p.Pro11HisfsTer?)
c.-12-47del (n.-12-47del)
c.40-47del (n.40-47del)
n.260-105del
gnomAD v4
15g.34342157_34342158delCA2627640149NOP10c.55-106_55-105del (n.55-106_55-105del)
c.55-45_55-44del (n.55-45_55-44del)
c.55-48_55-47del (n.55-48_55-47del)
c.31_32del (p.Pro11IlefsTer7)
c.-12-48_-12-47del (n.-12-48_-12-47del)
c.40-48_40-47del (n.40-48_40-47del)
n.260-106_260-105del
gnomAD v4
15g.34342156G>ACA7464796NOP10c.55-106C>T (n.55-106C>T)
c.55-45C>T (n.55-45C>T)
c.55-48C>T (n.55-48C>T)
c.31C>T (p.Pro11Ser)
c.-12-48C>T (n.-12-48C>T)
c.40-48C>T (n.40-48C>T)
n.260-106C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.34342156G>CCA617188494NOP10c.55-106C>G (n.55-106C>G)
c.55-45C>G (n.55-45C>G)
c.55-48C>G (n.55-48C>G)
c.31C>G (p.Pro11Ala)
c.-12-48C>G (n.-12-48C>G)
c.40-48C>G (n.40-48C>G)
n.260-106C>G
dbSNP gnomAD v2 gnomAD v4
15g.34342156G>TCA2575669054NOP10c.55-106C>A (n.55-106C>A)
c.55-45C>A (n.55-45C>A)
c.55-48C>A (n.55-48C>A)
c.31C>A (p.Pro11Thr)
c.-12-48C>A (n.-12-48C>A)
c.40-48C>A (n.40-48C>A)
n.260-106C>A
dbSNP gnomAD v4
15g.34342157G>ACA2627640152NOP10c.55-107C>T (n.55-107C>T)
c.55-46C>T (n.55-46C>T)
c.55-49C>T (n.55-49C>T)
c.30C>T (p.Thr10=)
c.-12-49C>T (n.-12-49C>T)
c.40-49C>T (n.40-49C>T)
n.260-107C>T
gnomAD v4
15g.34342157G>CCA7464797NOP10c.55-107C>G (n.55-107C>G)
c.55-46C>G (n.55-46C>G)
c.55-49C>G (n.55-49C>G)
c.30C>G (p.Thr10=)
c.-12-49C>G (n.-12-49C>G)
c.40-49C>G (n.40-49C>G)
n.260-107C>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.34342157G>TCA2627640151NOP10c.55-107C>A (n.55-107C>A)
c.55-46C>A (n.55-46C>A)
c.55-49C>A (n.55-49C>A)
c.30C>A (p.Thr10=)
c.-12-49C>A (n.-12-49C>A)
c.40-49C>A (n.40-49C>A)
n.260-107C>A
gnomAD v4
15g.34342158G>ACA2627640153NOP10c.55-108C>T (n.55-108C>T)
c.55-47C>T (n.55-47C>T)
c.55-50C>T (n.55-50C>T)
c.29C>T (p.Thr10Ile)
c.-12-50C>T (n.-12-50C>T)
c.40-50C>T (n.40-50C>T)
n.260-108C>T
gnomAD v4
15g.34342158G>TCA2627640154NOP10c.55-108C>A (n.55-108C>A)
c.55-47C>A (n.55-47C>A)
c.55-50C>A (n.55-50C>A)
c.29C>A (p.Thr10Asn)
c.-12-50C>A (n.-12-50C>A)
c.40-50C>A (n.40-50C>A)
n.260-108C>A
gnomAD v4
15g.34342160G>ACA7464798NOP10c.55-110C>T (n.55-110C>T)
c.55-49C>T (n.55-49C>T)
c.55-52C>T (n.55-52C>T)
c.27C>T (p.Pro9=)
c.-12-52C>T (n.-12-52C>T)
c.40-52C>T (n.40-52C>T)
n.260-110C>T
dbSNP ExAC gnomAD v2 gnomAD v4
15g.34342160G>CCA2627640157NOP10c.55-110C>G (n.55-110C>G)
c.55-49C>G (n.55-49C>G)
c.55-52C>G (n.55-52C>G)
c.27C>G (p.Pro9=)
c.-12-52C>G (n.-12-52C>G)
c.40-52C>G (n.40-52C>G)
n.260-110C>G
gnomAD v4
15g.34342160G>TCA2627640156NOP10c.55-110C>A (n.55-110C>A)
c.55-49C>A (n.55-49C>A)
c.55-52C>A (n.55-52C>A)
c.27C>A (p.Pro9=)
c.-12-52C>A (n.-12-52C>A)
c.40-52C>A (n.40-52C>A)
n.260-110C>A
gnomAD v4
15g.34342163delCA2627640155NOP10c.55-110del (n.55-110del)
c.55-49del (n.55-49del)
c.55-52del (n.55-52del)
c.27del (p.Thr10ProfsTer?)
c.-12-52del (n.-12-52del)
c.40-52del (n.40-52del)
n.260-110del
gnomAD v4
15g.34342161_34342171delCA968547462NOP10c.55-120_55-110del (n.55-120_55-110del)
c.55-59_55-49del (n.55-59_55-49del)
c.55-62_55-52del (n.55-62_55-52del)
c.17_27del (p.Arg6HisfsTer9)
c.-12-62_-12-52del (n.-12-62_-12-52del)
c.40-62_40-52del (n.40-62_40-52del)
n.260-120_260-110del
gnomAD v3 gnomAD v4
15g.34342161G>ACA712270959NOP10c.55-111C>T (n.55-111C>T)
c.55-50C>T (n.55-50C>T)
c.55-53C>T (n.55-53C>T)
c.26C>T (p.Pro9Leu)
c.-12-53C>T (n.-12-53C>T)
c.40-53C>T (n.40-53C>T)
n.260-111C>T
dbSNP gnomAD v3 gnomAD v4
15g.34342161G>CCA2730592919NOP10c.55-111C>G (n.55-111C>G)
c.55-50C>G (n.55-50C>G)
c.55-53C>G (n.55-53C>G)
c.26C>G (p.Pro9Arg)
c.-12-53C>G (n.-12-53C>G)
c.40-53C>G (n.40-53C>G)
n.260-111C>G
dbSNP
15g.34342161G>TCA2627640158NOP10c.55-111C>A (n.55-111C>A)
c.55-50C>A (n.55-50C>A)
c.55-53C>A (n.55-53C>A)
c.26C>A (p.Pro9His)
c.-12-53C>A (n.-12-53C>A)
c.40-53C>A (n.40-53C>A)
n.260-111C>A
gnomAD v4
15g.34342162_34342171delCA617188499NOP10c.55-120_55-111del (n.55-120_55-111del)
c.55-59_55-50del (n.55-59_55-50del)
c.55-62_55-53del (n.55-62_55-53del)
c.17_26del (p.Arg6ProfsTer?)
c.-12-62_-12-53del (n.-12-62_-12-53del)
c.40-62_40-53del (n.40-62_40-53del)
n.260-120_260-111del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.34342162G>TCA2627640159NOP10c.55-112C>A (n.55-112C>A)
c.55-51C>A (n.55-51C>A)
c.55-54C>A (n.55-54C>A)
c.25C>A (p.Pro9Thr)
c.-12-54C>A (n.-12-54C>A)
c.40-54C>A (n.40-54C>A)
n.260-112C>A
gnomAD v4
15g.34342163G>ACA2627640160NOP10c.55-113C>T (n.55-113C>T)
c.55-52C>T (n.55-52C>T)
c.55-55C>T (n.55-55C>T)
c.24C>T (p.Gly8=)
c.-12-55C>T (n.-12-55C>T)
c.40-55C>T (n.40-55C>T)
n.260-113C>T
gnomAD v4
15g.34342163G>CCA268645410NOP10c.55-113C>G (n.55-113C>G)
c.55-52C>G (n.55-52C>G)
c.55-55C>G (n.55-55C>G)
c.24C>G (p.Gly8=)
c.-12-55C>G (n.-12-55C>G)
c.40-55C>G (n.40-55C>G)
n.260-113C>G
dbSNP
15g.34342163G>TCA2627640161NOP10c.55-113C>A (n.55-113C>A)
c.55-52C>A (n.55-52C>A)
c.55-55C>A (n.55-55C>A)
c.24C>A (p.Gly8=)
c.-12-55C>A (n.-12-55C>A)
c.40-55C>A (n.40-55C>A)
n.260-113C>A
gnomAD v4
15g.34342165delCA2627640162NOP10c.55-114del (n.55-114del)
c.55-53del (n.55-53del)
c.55-56del (n.55-56del)
c.23del (p.Gly8AlafsTer?)
c.-12-56del (n.-12-56del)
c.40-56del (n.40-56del)
n.260-114del
gnomAD v4
15g.34342165C>TCA2627640163NOP10c.55-115G>A (n.55-115G>A)
c.55-54G>A (n.55-54G>A)
c.55-57G>A (n.55-57G>A)
c.22G>A (p.Gly8Ser)
c.-12-57G>A (n.-12-57G>A)
c.40-57G>A (n.40-57G>A)
n.260-115G>A
dbSNP gnomAD v4
15g.34342166A>GCA2627640164NOP10c.55-116T>C (n.55-116T>C)
c.55-55T>C (n.55-55T>C)
c.55-58T>C (n.55-58T>C)
c.21T>C (p.Ala7=)
c.-12-58T>C (n.-12-58T>C)
c.40-58T>C (n.40-58T>C)
n.260-116T>C
gnomAD v4
15g.34342167G>TCA2627640165NOP10c.55-117C>A (n.55-117C>A)
c.55-56C>A (n.55-56C>A)
c.55-59C>A (n.55-59C>A)
c.20C>A (p.Ala7Asp)
c.-12-59C>A (n.-12-59C>A)
c.40-59C>A (n.40-59C>A)
n.260-117C>A
gnomAD v4
15g.34342168C>ACA2627640166NOP10c.55-118G>T (n.55-118G>T)
c.55-57G>T (n.55-57G>T)
c.55-60G>T (n.55-60G>T)
c.19G>T (p.Ala7Ser)
c.-12-60G>T (n.-12-60G>T)
c.40-60G>T (n.40-60G>T)
n.260-118G>T
gnomAD v4
15g.34342168C>GCA2627640167NOP10c.55-118G>C (n.55-118G>C)
c.55-57G>C (n.55-57G>C)
c.55-60G>C (n.55-60G>C)
c.19G>C (p.Ala7Pro)
c.-12-60G>C (n.-12-60G>C)
c.40-60G>C (n.40-60G>C)
n.260-118G>C
gnomAD v4
15g.34342168C>TCA2627640168NOP10c.55-118G>A (n.55-118G>A)
c.55-57G>A (n.55-57G>A)
c.55-60G>A (n.55-60G>A)
c.19G>A (p.Ala7Thr)
c.-12-60G>A (n.-12-60G>A)
c.40-60G>A (n.40-60G>A)
n.260-118G>A
gnomAD v4
15g.34342169G>ACA617188500NOP10c.55-119C>T (n.55-119C>T)
c.55-58C>T (n.55-58C>T)
c.55-61C>T (n.55-61C>T)
c.18C>T (p.Arg6=)
c.-12-61C>T (n.-12-61C>T)
c.40-61C>T (n.40-61C>T)
n.260-119C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.34342169G>TCA2627640169NOP10c.55-119C>A (n.55-119C>A)
c.55-58C>A (n.55-58C>A)
c.55-61C>A (n.55-61C>A)
c.18C>A (p.Arg6=)
c.-12-61C>A (n.-12-61C>A)
c.40-61C>A (n.40-61C>A)
n.260-119C>A
gnomAD v4
15g.34342170C>ACA2627640170NOP10c.55-120G>T (n.55-120G>T)
c.55-59G>T (n.55-59G>T)
c.55-62G>T (n.55-62G>T)
c.17G>T (p.Arg6Leu)
c.-12-62G>T (n.-12-62G>T)
c.40-62G>T (n.40-62G>T)
n.260-120G>T
gnomAD v4
15g.34342170C>GCA268645411NOP10c.55-120G>C (n.55-120G>C)
c.55-59G>C (n.55-59G>C)
c.55-62G>C (n.55-62G>C)
c.17G>C (p.Arg6Pro)
c.-12-62G>C (n.-12-62G>C)
c.40-62G>C (n.40-62G>C)
n.260-120G>C
dbSNP gnomAD v3 gnomAD v4
15g.34342170C>TCA2627640171NOP10c.55-120G>A (n.55-120G>A)
c.55-59G>A (n.55-59G>A)
c.55-62G>A (n.55-62G>A)
c.17G>A (p.Arg6His)
c.-12-62G>A (n.-12-62G>A)
c.40-62G>A (n.40-62G>A)
n.260-120G>A
gnomAD v4
15g.34342171G>ACA712270963NOP10c.55-121C>T (n.55-121C>T)
c.55-60C>T (n.55-60C>T)
c.55-63C>T (n.55-63C>T)
c.16C>T (p.Arg6Cys)
c.-12-63C>T (n.-12-63C>T)
c.40-63C>T (n.40-63C>T)
n.260-121C>T
dbSNP gnomAD v3 gnomAD v4
15g.34342171G>TCA2627640172NOP10c.55-121C>A (n.55-121C>A)
c.55-60C>A (n.55-60C>A)
c.55-63C>A (n.55-63C>A)
c.16C>A (p.Arg6Ser)
c.-12-63C>A (n.-12-63C>A)
c.40-63C>A (n.40-63C>A)
n.260-121C>A
gnomAD v4
15g.34342176_34342177insAAAAAAAAAACA2627640173NOP10c.55-122_55-121insTTTTTTTTTT (n.55-122_55-121insTTTTTTTTTT)
c.55-61_55-60insTTTTTTTTTT (n.55-61_55-60insTTTTTTTTTT)
c.55-64_55-63insTTTTTTTTTT (n.55-64_55-63insTTTTTTTTTT)
c.15_16insTTTTTTTTTT (p.Arg6PhefsTer16)
c.-12-64_-12-63insTTTTTTTTTT (n.-12-64_-12-63insTTTTTTTTTT)
c.40-64_40-63insTTTTTTTTTT (n.40-64_40-63insTTTTTTTTTT)
n.260-122_260-121insTTTTTTTTTT
gnomAD v4
15g.34342176_34342177insAAAAAAAAAAACA2627640174NOP10c.55-122_55-121insTTTTTTTTTTT (n.55-122_55-121insTTTTTTTTTTT)
c.55-61_55-60insTTTTTTTTTTT (n.55-61_55-60insTTTTTTTTTTT)
c.55-64_55-63insTTTTTTTTTTT (n.55-64_55-63insTTTTTTTTTTT)
c.15_16insTTTTTTTTTTT (p.Arg6PhefsTer?)
c.-12-64_-12-63insTTTTTTTTTTT (n.-12-64_-12-63insTTTTTTTTTTT)
c.40-64_40-63insTTTTTTTTTTT (n.40-64_40-63insTTTTTTTTTTT)
n.260-122_260-121insTTTTTTTTTTT
gnomAD v4
15g.34342176delCA268645414NOP10c.55-122del (n.55-122del)
c.55-61del (n.55-61del)
c.55-64del (n.55-64del)
c.15del (p.Arg6AlafsTer?)
c.-12-64del (n.-12-64del)
c.40-64del (n.40-64del)
n.260-122del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched