Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.7580052_7580054delCA039247DSPc.3862_3864del (p.Lys1288del)
c.3582+280_3582+282del (n.3582+280_3582+282del)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.7580053A=CA1608615676DSPc.3863A= (p.Lys1288=)
c.3582+281A= (n.3582+281A=)
6g.7580053A>CCA362685020DSPc.3863A>C (p.Lys1288Thr)
c.3582+281A>C (n.3582+281A>C)
COSMIC
6g.7580053A>GCA039305DSPc.3863A>G (p.Lys1288Arg)
c.3582+281A>G (n.3582+281A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.7580053A>TCA362685021DSPc.3863A>T (p.Lys1288Met)
c.3582+281A>T (n.3582+281A>T)
6g.7580054G>ACA039327DSPc.3864G>A (p.Lys1288=)
c.3582+282G>A (n.3582+282G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.7580054G>CCA362685022DSPc.3864G>C (p.Lys1288Asn)
c.3582+282G>C (n.3582+282G>C)
6g.7580054G=CA1608615686DSPc.3864G= (p.Lys1288=)
c.3582+282G= (n.3582+282G=)
6g.7580054G>TCA133968942DSPc.3864G>T (p.Lys1288Asn)
c.3582+282G>T (n.3582+282G>T)
ClinVar dbSNP gnomAD v3 gnomAD v4
6g.7580055C>ACA362685023DSPc.3865C>A (p.Gln1289Lys)
c.3582+283C>A (n.3582+283C>A)
gnomAD v4
6g.7580055C=CA1608615692DSPc.3865C= (p.Gln1289=)
c.3582+283C= (n.3582+283C=)
6g.7580055C>GCA362685024DSPc.3865C>G (p.Gln1289Glu)
c.3582+283C>G (n.3582+283C>G)
6g.7580055C>TCA039350DSPc.3865C>T (p.Gln1289Ter)
c.3582+283C>T (n.3582+283C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.7580056A>CCA362685025DSPc.3866A>C (p.Gln1289Pro)
c.3582+284A>C (n.3582+284A>C)
6g.7580056A>GCA362685026DSPc.3866A>G (p.Gln1289Arg)
c.3582+284A>G (n.3582+284A>G)
gnomAD v4
6g.7580056A>TCA362685027DSPc.3866A>T (p.Gln1289Leu)
c.3582+284A>T (n.3582+284A>T)
6g.7580057G>ACA448715261DSPc.3867G>A (p.Gln1289=)
c.3582+285G>A (n.3582+285G>A)
6g.7580057G>CCA362685028DSPc.3867G>C (p.Gln1289His)
c.3582+285G>C (n.3582+285G>C)
6g.7580057G>TCA362685029DSPc.3867G>T (p.Gln1289His)
c.3582+285G>T (n.3582+285G>T)
6g.7580058C>ACA362685032DSPc.3868C>A (p.His1290Asn)
c.3582+286C>A (n.3582+286C>A)
6g.7580058C>GCA362685031DSPc.3868C>G (p.His1290Asp)
c.3582+286C>G (n.3582+286C>G)
6g.7580058C>TCA362685030DSPc.3868C>T (p.His1290Tyr)
c.3582+286C>T (n.3582+286C>T)
6g.7580059A>CCA362685033DSPc.3869A>C (p.His1290Pro)
c.3582+287A>C (n.3582+287A>C)
6g.7580059A>GCA362685034DSPc.3869A>G (p.His1290Arg)
c.3582+287A>G (n.3582+287A>G)
6g.7580059A>TCA362685035DSPc.3869A>T (p.His1290Leu)
c.3582+287A>T (n.3582+287A>T)
6g.7580060T>ACA362685036DSPc.3870T>A (p.His1290Gln)
c.3582+288T>A (n.3582+288T>A)
6g.7580060T>CCA039379DSPc.3870T>C (p.His1290=)
c.3582+288T>C (n.3582+288T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.7580060T>GCA362685037DSPc.3870T>G (p.His1290Gln)
c.3582+288T>G (n.3582+288T>G)
6g.7580060T=CA1608615698DSPc.3870T= (p.His1290=)
c.3582+288T= (n.3582+288T=)
6g.7580061C>ACA362685038DSPc.3871C>A (p.Leu1291Met)
c.3582+289C>A (n.3582+289C>A)
6g.7580061C=CA1608615704DSPc.3871C= (p.Leu1291=)
c.3582+289C= (n.3582+289C=)
6g.7580061C>GCA362685039DSPc.3871C>G (p.Leu1291Val)
c.3582+289C>G (n.3582+289C>G)
6g.7580061C>TCA039395DSPc.3871C>T (p.Leu1291=)
c.3582+289C>T (n.3582+289C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.7580062T>ACA362685040DSPc.3872T>A (p.Leu1291Gln)
c.3582+290T>A (n.3582+290T>A)
6g.7580062T>CCA362685041DSPc.3872T>C (p.Leu1291Pro)
c.3582+290T>C (n.3582+290T>C)
6g.7580062T>GCA362685042DSPc.3872T>G (p.Leu1291Arg)
c.3582+290T>G (n.3582+290T>G)
6g.7580063G>ACA448715272DSPc.3873G>A (p.Leu1291=)
c.3582+291G>A (n.3582+291G>A)
6g.7580063G>CCA448715273DSPc.3873G>C (p.Leu1291=)
c.3582+291G>C (n.3582+291G>C)
6g.7580063G>TCA448715274DSPc.3873G>T (p.Leu1291=)
c.3582+291G>T (n.3582+291G>T)
6g.7580064G>ACA133968959DSPc.3874G>A (p.Glu1292Lys)
c.3582+292G>A (n.3582+292G>A)
dbSNP
6g.7580064G>CCA362685043DSPc.3874G>C (p.Glu1292Gln)
c.3582+292G>C (n.3582+292G>C)
6g.7580064G=CA1608615710DSPc.3874G= (p.Glu1292=)
c.3582+292G= (n.3582+292G=)
6g.7580064G>TCA362685044DSPc.3874G>T (p.Glu1292Ter)
c.3582+292G>T (n.3582+292G>T)
6g.7580064_7580068delCA645551224DSPc.3874_3878del (p.Glu1292ArgfsTer11)
c.3582+292_3582+296del (n.3582+292_3582+296del)
COSMIC
6g.7580065A>CCA362685045DSPc.3875A>C (p.Glu1292Ala)
c.3582+293A>C (n.3582+293A>C)
6g.7580065A>GCA362685047DSPc.3875A>G (p.Glu1292Gly)
c.3582+293A>G (n.3582+293A>G)
6g.7580065A>TCA362685046DSPc.3875A>T (p.Glu1292Val)
c.3582+293A>T (n.3582+293A>T)
6g.7580066G>ACA448715277DSPc.3876G>A (p.Glu1292=)
c.3582+294G>A (n.3582+294G>A)
6g.7580066G>CCA362685048DSPc.3876G>C (p.Glu1292Asp)
c.3582+294G>C (n.3582+294G>C)
6g.7580066G>TCA362685049DSPc.3876G>T (p.Glu1292Asp)
c.3582+294G>T (n.3582+294G>T)
6g.7580067A=CA1608615716DSPc.3877A= (p.Ile1293=)
c.3582+295A= (n.3582+295A=)
6g.7580067A>CCA362685050DSPc.3877A>C (p.Ile1293Leu)
c.3582+295A>C (n.3582+295A>C)
6g.7580067A>GCA039408DSPc.3877A>G (p.Ile1293Val)
c.3582+295A>G (n.3582+295A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.7580067A>TCA362685051DSPc.3877A>T (p.Ile1293Leu)
c.3582+295A>T (n.3582+295A>T)
6g.7580068T>ACA362685052DSPc.3878T>A (p.Ile1293Lys)
c.3582+296T>A (n.3582+296T>A)
6g.7580068T>CCA039424DSPc.3878T>C (p.Ile1293Thr)
c.3582+296T>C (n.3582+296T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.7580068T>GCA362685053DSPc.3878T>G (p.Ile1293Arg)
c.3582+296T>G (n.3582+296T>G)
6g.7580068T=CA1608615727DSPc.3878T= (p.Ile1293=)
c.3582+296T= (n.3582+296T=)
6g.7580069A=CA1608615731DSPc.3879A= (p.Ile1293=)
c.3582+297A= (n.3582+297A=)
6g.7580069A>CCA448715280DSPc.3879A>C (p.Ile1293=)
c.3582+297A>C (n.3582+297A>C)
6g.7580069A>GCA039437DSPc.3879A>G (p.Ile1293Met)
c.3582+297A>G (n.3582+297A>G)
dbSNP ExAC gnomAD v2
6g.7580069A>TCA448715281DSPc.3879A>T (p.Ile1293=)
c.3582+297A>T (n.3582+297A>T)
6g.7580070G>ACA362685054DSPc.3880G>A (p.Glu1294Lys)
c.3582+298G>A (n.3582+298G>A)
ClinVar
6g.7580070G>CCA362685055DSPc.3880G>C (p.Glu1294Gln)
c.3582+298G>C (n.3582+298G>C)
6g.7580070G>TCA362685056DSPc.3880G>T (p.Glu1294Ter)
c.3582+298G>T (n.3582+298G>T)
6g.7580071A>CCA362685059DSPc.3881A>C (p.Glu1294Ala)
c.3582+299A>C (n.3582+299A>C)
6g.7580071A>GCA362685058DSPc.3881A>G (p.Glu1294Gly)
c.3582+299A>G (n.3582+299A>G)
6g.7580071A>TCA362685057DSPc.3881A>T (p.Glu1294Val)
c.3582+299A>T (n.3582+299A>T)
6g.7580072A>CCA362685060DSPc.3882A>C (p.Glu1294Asp)
c.3582+300A>C (n.3582+300A>C)
6g.7580072A>GCA448715287DSPc.3882A>G (p.Glu1294=)
c.3582+300A>G (n.3582+300A>G)
6g.7580072A>TCA362685061DSPc.3882A>T (p.Glu1294Asp)
c.3582+300A>T (n.3582+300A>T)
6g.7580073C>ACA362685062DSPc.3883C>A (p.Leu1295Met)
c.3582+301C>A (n.3582+301C>A)
6g.7580073C>GCA362685063DSPc.3883C>G (p.Leu1295Val)
c.3582+301C>G (n.3582+301C>G)
6g.7580073C>TCA448715290DSPc.3883C>T (p.Leu1295=)
c.3582+301C>T (n.3582+301C>T)
ClinVar
6g.7580074T>ACA362685064DSPc.3884T>A (p.Leu1295Gln)
c.3582+302T>A (n.3582+302T>A)
6g.7580074T>CCA362685065DSPc.3884T>C (p.Leu1295Pro)
c.3582+302T>C (n.3582+302T>C)
6g.7580074T>GCA362685066DSPc.3884T>G (p.Leu1295Arg)
c.3582+302T>G (n.3582+302T>G)
6g.7580075G>ACA133968977DSPc.3885G>A (p.Leu1295=)
c.3582+303G>A (n.3582+303G>A)
dbSNP
6g.7580075G>CCA448715294DSPc.3885G>C (p.Leu1295=)
c.3582+303G>C (n.3582+303G>C)
6g.7580075G=CA1608615735DSPc.3885G= (p.Leu1295=)
c.3582+303G= (n.3582+303G=)
6g.7580075G>TCA448715295DSPc.3885G>T (p.Leu1295=)
c.3582+303G>T (n.3582+303G>T)
6g.7580076A>CCA362685067DSPc.3886A>C (p.Lys1296Gln)
c.3582+304A>C (n.3582+304A>C)
6g.7580076A>GCA362685068DSPc.3886A>G (p.Lys1296Glu)
c.3582+304A>G (n.3582+304A>G)
6g.7580076A>TCA362685069DSPc.3886A>T (p.Lys1296Ter)
c.3582+304A>T (n.3582+304A>T)
6g.7580076_7580088delinsAAGCAGGTCATGCCA1608615737DSPc.3886_3898delinsAAGCAGGTCATGC (p.Lys1296=)
c.3582+304_3582+316delinsAAGCAGGTCATGC (n.3582+304_3582+316delinsAAGCAGGTCATGC)
6g.7580077A=CA1608615741DSPc.3887A= (p.Lys1296=)
c.3582+305A= (n.3582+305A=)
6g.7580077A>CCA362685071DSPc.3887A>C (p.Lys1296Thr)
c.3582+305A>C (n.3582+305A>C)
gnomAD v4
6g.7580077A>GCA133968978DSPc.3887A>G (p.Lys1296Arg)
c.3582+305A>G (n.3582+305A>G)
dbSNP
6g.7580077A>TCA362685070DSPc.3887A>T (p.Lys1296Met)
c.3582+305A>T (n.3582+305A>T)
6g.7580082_7580093delCA1608615740DSPc.3892_3903del (p.Val1298_Gln1301del)
c.3582+310_3582+321del (n.3582+310_3582+321del)
dbSNP
6g.7580078G>ACA448715299DSPc.3888G>A (p.Lys1296=)
c.3582+306G>A (n.3582+306G>A)
6g.7580078G>CCA362685072DSPc.3888G>C (p.Lys1296Asn)
c.3582+306G>C (n.3582+306G>C)
6g.7580078G>TCA362685073DSPc.3888G>T (p.Lys1296Asn)
c.3582+306G>T (n.3582+306G>T)
6g.7580079C>ACA362685074DSPc.3889C>A (p.Gln1297Lys)
c.3582+307C>A (n.3582+307C>A)
6g.7580079C=CA1608615743DSPc.3889C= (p.Gln1297=)
c.3582+307C= (n.3582+307C=)
6g.7580079C>GCA362685075DSPc.3889C>G (p.Gln1297Glu)
c.3582+307C>G (n.3582+307C>G)
6g.7580079C>TCA362685076DSPc.3889C>T (p.Gln1297Ter)
c.3582+307C>T (n.3582+307C>T)
ClinVar dbSNP gnomAD v2 gnomAD v4
6g.7580080A=CA1608615747DSPc.3890A= (p.Gln1297=)
c.3582+308A= (n.3582+308A=)
6g.7580080A>CCA362685079DSPc.3890A>C (p.Gln1297Pro)
c.3582+308A>C (n.3582+308A>C)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.7580080A>GCA362685077DSPc.3890A>G (p.Gln1297Arg)
c.3582+308A>G (n.3582+308A>G)
6g.7580080A>TCA362685078DSPc.3890A>T (p.Gln1297Leu)
c.3582+308A>T (n.3582+308A>T)
6g.7580081G>ACA448715303DSPc.3891G>A (p.Gln1297=)
c.3582+309G>A (n.3582+309G>A)
6g.7580081G>CCA362685080DSPc.3891G>C (p.Gln1297His)
c.3582+309G>C (n.3582+309G>C)
6g.7580081G>TCA362685081DSPc.3891G>T (p.Gln1297His)
c.3582+309G>T (n.3582+309G>T)
6g.7580081_7580084dupCA915944151DSPc.3891_3894dup (p.Met1299GlyfsTer7)
c.3582+309_3582+312dup (n.3582+309_3582+312dup)
ClinVar dbSNP
6g.7580082G>ACA362685082DSPc.3892G>A (p.Val1298Ile)
c.3582+310G>A (n.3582+310G>A)
gnomAD v4
6g.7580082G>CCA362685083DSPc.3892G>C (p.Val1298Leu)
c.3582+310G>C (n.3582+310G>C)
6g.7580082G>TCA362685084DSPc.3892G>T (p.Val1298Phe)
c.3582+310G>T (n.3582+310G>T)
6g.7580083T>ACA362685085DSPc.3893T>A (p.Val1298Asp)
c.3582+311T>A (n.3582+311T>A)
6g.7580083T>CCA362685087DSPc.3893T>C (p.Val1298Ala)
c.3582+311T>C (n.3582+311T>C)
gnomAD v4
6g.7580083T>GCA362685086DSPc.3893T>G (p.Val1298Gly)
c.3582+311T>G (n.3582+311T>G)
6g.7580084C>ACA448715305DSPc.3894C>A (p.Val1298=)
c.3582+312C>A (n.3582+312C>A)
ClinVar dbSNP gnomAD v4
6g.7580084C=CA1608615757DSPc.3894C= (p.Val1298=)
c.3582+312C= (n.3582+312C=)
6g.7580084C>GCA448715306DSPc.3894C>G (p.Val1298=)
c.3582+312C>G (n.3582+312C>G)
6g.7580084C>TCA448715307DSPc.3894C>T (p.Val1298=)
c.3582+312C>T (n.3582+312C>T)
6g.7580085A>CCA362685088DSPc.3895A>C (p.Met1299Leu)
c.3582+313A>C (n.3582+313A>C)
6g.7580085A>GCA362685089DSPc.3895A>G (p.Met1299Val)
c.3582+313A>G (n.3582+313A>G)
gnomAD v4
6g.7580085A>TCA362685090DSPc.3895A>T (p.Met1299Leu)
c.3582+313A>T (n.3582+313A>T)
6g.7580086T>ACA362685091DSPc.3896T>A (p.Met1299Lys)
c.3582+314T>A (n.3582+314T>A)
6g.7580086T>CCA362685092DSPc.3896T>C (p.Met1299Thr)
c.3582+314T>C (n.3582+314T>C)
ClinVar dbSNP gnomAD v4
6g.7580086T>GCA362685093DSPc.3896T>G (p.Met1299Arg)
c.3582+314T>G (n.3582+314T>G)
dbSNP gnomAD v4
6g.7580086T=CA1608615762DSPc.3896T= (p.Met1299=)
c.3582+314T= (n.3582+314T=)
6g.7580087G>ACA362685094DSPc.3897G>A (p.Met1299Ile)
c.3582+315G>A (n.3582+315G>A)
gnomAD v4
6g.7580087G>CCA362685095DSPc.3897G>C (p.Met1299Ile)
c.3582+315G>C (n.3582+315G>C)
ClinVar dbSNP
6g.7580087G>TCA362685096DSPc.3897G>T (p.Met1299Ile)
c.3582+315G>T (n.3582+315G>T)
6g.7580088C>ACA362685097DSPc.3898C>A (p.Gln1300Lys)
c.3582+316C>A (n.3582+316C>A)
6g.7580088C>GCA362685098DSPc.3898C>G (p.Gln1300Glu)
c.3582+316C>G (n.3582+316C>G)
ClinVar
6g.7580088C>TCA362685099DSPc.3898C>T (p.Gln1300Ter)
c.3582+316C>T (n.3582+316C>T)
6g.7580089A=CA1608615771DSPc.3899A= (p.Gln1300=)
c.3582+317A= (n.3582+317A=)
6g.7580089A>CCA362685101DSPc.3899A>C (p.Gln1300Pro)
c.3582+317A>C (n.3582+317A>C)
gnomAD v4
6g.7580089A>GCA16612035DSPc.3899A>G (p.Gln1300Arg)
c.3582+317A>G (n.3582+317A>G)
ClinVar dbSNP gnomAD v2 gnomAD v4
6g.7580089A>TCA362685100DSPc.3899A>T (p.Gln1300Leu)
c.3582+317A>T (n.3582+317A>T)
6g.7580090G>ACA448715314DSPc.3900G>A (p.Gln1300=)
c.3582+318G>A (n.3582+318G>A)
gnomAD v4
6g.7580090G>CCA362685103DSPc.3900G>C (p.Gln1300His)
c.3582+318G>C (n.3582+318G>C)
6g.7580090G>TCA362685102DSPc.3900G>T (p.Gln1300His)
c.3582+318G>T (n.3582+318G>T)
6g.7580091C>ACA362685106DSPc.3901C>A (p.Gln1301Lys)
c.3582+319C>A (n.3582+319C>A)
6g.7580091C=CA1608615780DSPc.3901C= (p.Gln1301=)
c.3582+319C= (n.3582+319C=)
6g.7580091C>GCA362685104DSPc.3901C>G (p.Gln1301Glu)
c.3582+319C>G (n.3582+319C>G)
6g.7580091C>TCA362685105DSPc.3901C>T (p.Gln1301Ter)
c.3582+319C>T (n.3582+319C>T)
ClinVar dbSNP COSMIC
6g.7580092A>CCA362685107DSPc.3902A>C (p.Gln1301Pro)
c.3582+320A>C (n.3582+320A>C)
6g.7580092A>GCA362685108DSPc.3902A>G (p.Gln1301Arg)
c.3582+320A>G (n.3582+320A>G)
6g.7580092A>TCA362685109DSPc.3902A>T (p.Gln1301Leu)
c.3582+320A>T (n.3582+320A>T)
ClinVar dbSNP
6g.7580093G>ACA448715318DSPc.3903G>A (p.Gln1301=)
c.3582+321G>A (n.3582+321G>A)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.7580093G>CCA362685110DSPc.3903G>C (p.Gln1301His)
c.3582+321G>C (n.3582+321G>C)
6g.7580093G=CA1608615788DSPc.3903G= (p.Gln1301=)
c.3582+321G= (n.3582+321G=)
6g.7580093G>TCA362685111DSPc.3903G>T (p.Gln1301His)
c.3582+321G>T (n.3582+321G>T)
6g.7580094C>ACA362685112DSPc.3904C>A (p.Arg1302Ser)
c.3582+322C>A (n.3582+322C>A)
6g.7580094C=CA1608615801DSPc.3904C= (p.Arg1302=)
c.3582+322C= (n.3582+322C=)
6g.7580094C>GCA362685113DSPc.3904C>G (p.Arg1302Gly)
c.3582+322C>G (n.3582+322C>G)
6g.7580094C>TCA039502DSPc.3904C>T (p.Arg1302Cys)
c.3582+322C>T (n.3582+322C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.7580095G>ACA039514DSPc.3905G>A (p.Arg1302His)
c.3582+323G>A (n.3582+323G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.7580095G>CCA362685114DSPc.3905G>C (p.Arg1302Pro)
c.3582+323G>C (n.3582+323G>C)
6g.7580095G=CA1608615815DSPc.3905G= (p.Arg1302=)
c.3582+323G= (n.3582+323G=)
6g.7580095G>TCA362685115DSPc.3905G>T (p.Arg1302Leu)
c.3582+323G>T (n.3582+323G>T)
ClinVar dbSNP gnomAD v2 gnomAD v4
6g.7580096C>ACA448715323DSPc.3906C>A (p.Arg1302=)
c.3582+324C>A (n.3582+324C>A)
6g.7580096C>GCA448715324DSPc.3906C>G (p.Arg1302=)
c.3582+324C>G (n.3582+324C>G)
6g.7580096C>TCA448715322DSPc.3906C>T (p.Arg1302=)
c.3582+324C>T (n.3582+324C>T)
gnomAD v4
6g.7580097T>ACA362685118DSPc.3907T>A (p.Ser1303Thr)
c.3582+325T>A (n.3582+325T>A)
6g.7580097T>CCA362685116DSPc.3907T>C (p.Ser1303Pro)
c.3582+325T>C (n.3582+325T>C)
6g.7580097T>GCA362685117DSPc.3907T>G (p.Ser1303Ala)
c.3582+325T>G (n.3582+325T>G)
6g.7580098C>ACA362685119DSPc.3908C>A (p.Ser1303Tyr)
c.3582+326C>A (n.3582+326C>A)
6g.7580098C>GCA362685120DSPc.3908C>G (p.Ser1303Cys)
c.3582+326C>G (n.3582+326C>G)
6g.7580098C>TCA362685121DSPc.3908C>T (p.Ser1303Phe)
c.3582+326C>T (n.3582+326C>T)
6g.7580099_7580111delCA2580075409DSPc.3909_3921del (p.Glu1304GlyfsTer?)
c.3582+327_3582+339del (n.3582+327_3582+339del)
ClinVar
6g.7580099T>ACA448715330DSPc.3909T>A (p.Ser1303=)
c.3582+327T>A (n.3582+327T>A)
6g.7580099T>CCA448715331DSPc.3909T>C (p.Ser1303=)
c.3582+327T>C (n.3582+327T>C)
6g.7580099T>GCA448715333DSPc.3909T>G (p.Ser1303=)
c.3582+327T>G (n.3582+327T>G)
6g.7580100G>ACA362685122DSPc.3910G>A (p.Glu1304Lys)
c.3582+328G>A (n.3582+328G>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.7580100G>CCA362685123DSPc.3910G>C (p.Glu1304Gln)
c.3582+328G>C (n.3582+328G>C)
6g.7580100G=CA1608615825DSPc.3910G= (p.Glu1304=)
c.3582+328G= (n.3582+328G=)
6g.7580100G>TCA362685124DSPc.3910G>T (p.Glu1304Ter)
c.3582+328G>T (n.3582+328G>T)
6g.7580101A>CCA362685125DSPc.3911A>C (p.Glu1304Ala)
c.3582+329A>C (n.3582+329A>C)
6g.7580101A>GCA362685126DSPc.3911A>G (p.Glu1304Gly)
c.3582+329A>G (n.3582+329A>G)
6g.7580101A>TCA362685127DSPc.3911A>T (p.Glu1304Val)
c.3582+329A>T (n.3582+329A>T)
6g.7580102G>ACA448715338DSPc.3912G>A (p.Glu1304=)
c.3582+330G>A (n.3582+330G>A)
6g.7580102G>CCA039532DSPc.3912G>C (p.Glu1304Asp)
c.3582+330G>C (n.3582+330G>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.7580102G=CA1608615841DSPc.3912G= (p.Glu1304=)
c.3582+330G= (n.3582+330G=)
6g.7580102G>TCA362685128DSPc.3912G>T (p.Glu1304Asp)
c.3582+330G>T (n.3582+330G>T)
6g.7580103delCA2573050737DSPc.3913del (p.Asp1305ThrfsTer?)
c.3582+331del (n.3582+331del)
6g.7580103G>ACA362685131DSPc.3913G>A (p.Asp1305Asn)
c.3582+331G>A (n.3582+331G>A)
ClinVar
6g.7580103G>CCA362685130DSPc.3913G>C (p.Asp1305His)
c.3582+331G>C (n.3582+331G>C)
6g.7580103G>TCA362685129DSPc.3913G>T (p.Asp1305Tyr)
c.3582+331G>T (n.3582+331G>T)
6g.7580104A>CCA362685132DSPc.3914A>C (p.Asp1305Ala)
c.3582+332A>C (n.3582+332A>C)
6g.7580104A>GCA362685133DSPc.3914A>G (p.Asp1305Gly)
c.3582+332A>G (n.3582+332A>G)
6g.7580104A>TCA362685134DSPc.3914A>T (p.Asp1305Val)
c.3582+332A>T (n.3582+332A>T)
6g.7580105C>ACA362685135DSPc.3915C>A (p.Asp1305Glu)
c.3582+333C>A (n.3582+333C>A)
6g.7580105C=CA1608615844DSPc.3915C= (p.Asp1305=)
c.3582+333C= (n.3582+333C=)
6g.7580105C>GCA039550DSPc.3915C>G (p.Asp1305Glu)
c.3582+333C>G (n.3582+333C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.7580105C>TCA448715342DSPc.3915C>T (p.Asp1305=)
c.3582+333C>T (n.3582+333C>T)
gnomAD v4
6g.7580106A>CCA362685138DSPc.3916A>C (p.Asn1306His)
c.3582+334A>C (n.3582+334A>C)
6g.7580106A>GCA362685137DSPc.3916A>G (p.Asn1306Asp)
c.3582+334A>G (n.3582+334A>G)
6g.7580106A>TCA362685136DSPc.3916A>T (p.Asn1306Tyr)
c.3582+334A>T (n.3582+334A>T)
6g.7580107A>CCA362685139DSPc.3917A>C (p.Asn1306Thr)
c.3582+335A>C (n.3582+335A>C)
6g.7580107A>GCA362685140DSPc.3917A>G (p.Asn1306Ser)
c.3582+335A>G (n.3582+335A>G)
6g.7580107A>TCA362685141DSPc.3917A>T (p.Asn1306Ile)
c.3582+335A>T (n.3582+335A>T)
6g.7580108T>ACA362685142DSPc.3918T>A (p.Asn1306Lys)
c.3582+336T>A (n.3582+336T>A)
6g.7580108T>CCA039568DSPc.3918T>C (p.Asn1306=)
c.3582+336T>C (n.3582+336T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.7580108T>GCA362685143DSPc.3918T>G (p.Asn1306Lys)
c.3582+336T>G (n.3582+336T>G)
6g.7580108T=CA1608615848DSPc.3918T= (p.Asn1306=)
c.3582+336T= (n.3582+336T=)
6g.7580109G>ACA039587DSPc.3919G>A (p.Ala1307Thr)
c.3582+337G>A (n.3582+337G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.7580109G>CCA362685145DSPc.3919G>C (p.Ala1307Pro)
c.3582+337G>C (n.3582+337G>C)
6g.7580109G=CA1608615854DSPc.3919G= (p.Ala1307=)
c.3582+337G= (n.3582+337G=)
6g.7580109G>TCA362685144DSPc.3919G>T (p.Ala1307Ser)
c.3582+337G>T (n.3582+337G>T)
ClinVar dbSNP
6g.7580109_7580110delinsTTCA2740090879DSPc.3919_3920delinsTT (p.Ala1307Phe)
c.3582+337_3582+338delinsTT (n.3582+337_3582+338delinsTT)
ClinVar
6g.7580110C>ACA362685146DSPc.3920C>A (p.Ala1307Asp)
c.3582+338C>A (n.3582+338C>A)
6g.7580110C>GCA362685147DSPc.3920C>G (p.Ala1307Gly)
c.3582+338C>G (n.3582+338C>G)
6g.7580110C>TCA362685148DSPc.3920C>T (p.Ala1307Val)
c.3582+338C>T (n.3582+338C>T)
gnomAD v4 COSMIC
6g.7580111C>ACA448714472DSPc.3921C>A (p.Ala1307=)
c.3582+339C>A (n.3582+339C>A)
6g.7580111C>GCA448714473DSPc.3921C>G (p.Ala1307=)
c.3582+339C>G (n.3582+339C>G)
gnomAD v4
6g.7580111C>TCA448714474DSPc.3921C>T (p.Ala1307=)
c.3582+339C>T (n.3582+339C>T)
gnomAD v4
6g.7580112C>ACA448714475DSPc.3922C>A (p.Arg1308=)
c.3582+340C>A (n.3582+340C>A)
6g.7580112C=CA1608615865DSPc.3922C= (p.Arg1308=)
c.3582+340C= (n.3582+340C=)
6g.7580112C>GCA362685149DSPc.3922C>G (p.Arg1308Gly)
c.3582+340C>G (n.3582+340C>G)
dbSNP gnomAD v2 gnomAD v4
6g.7580112C>TCA039598DSPc.3922C>T (p.Arg1308Trp)
c.3582+340C>T (n.3582+340C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.7580113G>ACA004286DSPc.3923G>A (p.Arg1308Gln)
c.3582+341G>A (n.3582+341G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.7580113G>CCA039623DSPc.3923G>C (p.Arg1308Pro)
c.3582+341G>C (n.3582+341G>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.7580113G=CA1608615877DSPc.3923G= (p.Arg1308=)
c.3582+341G= (n.3582+341G=)
6g.7580113G>TCA362685150DSPc.3923G>T (p.Arg1308Leu)
c.3582+341G>T (n.3582+341G>T)
ClinVar dbSNP
6g.7580114delCA2695206010DSPc.3924del (p.His1309ThrfsTer?)
c.3582+342del (n.3582+342del)
6g.7580114_7580120delCA645551225DSPc.3924_3930del (p.His1309SerfsTer?)
c.3582+342_3582+348del (n.3582+342_3582+348del)
COSMIC
6g.7580114G>ACA448714477DSPc.3924G>A (p.Arg1308=)
c.3582+342G>A (n.3582+342G>A)
gnomAD v4 COSMIC
6g.7580114G>CCA448714478DSPc.3924G>C (p.Arg1308=)
c.3582+342G>C (n.3582+342G>C)
6g.7580114G>TCA448714479DSPc.3924G>T (p.Arg1308=)
c.3582+342G>T (n.3582+342G>T)
6g.7580114_7580115delCA2580075410DSPc.3924_3925del (p.His1309GlnfsTer16)
c.3582+342_3582+343del (n.3582+342_3582+343del)
ClinVar
6g.7580115C>ACA362685151DSPc.3925C>A (p.His1309Asn)
c.3582+343C>A (n.3582+343C>A)
6g.7580115C>GCA362685152DSPc.3925C>G (p.His1309Asp)
c.3582+343C>G (n.3582+343C>G)
6g.7580115C>TCA362685153DSPc.3925C>T (p.His1309Tyr)
c.3582+343C>T (n.3582+343C>T)
6g.7580116A>CCA362685155DSPc.3926A>C (p.His1309Pro)
c.3582+344A>C (n.3582+344A>C)
6g.7580116A>GCA362685156DSPc.3926A>G (p.His1309Arg)
c.3582+344A>G (n.3582+344A>G)
6g.7580116A>TCA362685154DSPc.3926A>T (p.His1309Leu)
c.3582+344A>T (n.3582+344A>T)
6g.7580117C>ACA362685157DSPc.3927C>A (p.His1309Gln)
c.3582+345C>A (n.3582+345C>A)
6g.7580117C>GCA362685158DSPc.3927C>G (p.His1309Gln)
c.3582+345C>G (n.3582+345C>G)
6g.7580117C>TCA448714482DSPc.3927C>T (p.His1309=)
c.3582+345C>T (n.3582+345C>T)
6g.7580118A=CA1608615912DSPc.3928A= (p.Lys1310=)
c.3582+346A= (n.3582+346A=)
6g.7580118A>CCA362685159DSPc.3928A>C (p.Lys1310Gln)
c.3582+346A>C (n.3582+346A>C)
6g.7580118A>GCA362685161DSPc.3928A>G (p.Lys1310Glu)
c.3582+346A>G (n.3582+346A>G)
gnomAD v4
6g.7580118A>TCA362685160DSPc.3928A>T (p.Lys1310Ter)
c.3582+346A>T (n.3582+346A>T)
ClinVar dbSNP gnomAD v3 gnomAD v4
6g.7580119A>CCA362685162DSPc.3929A>C (p.Lys1310Thr)
c.3582+347A>C (n.3582+347A>C)
ClinVar gnomAD v4
6g.7580119A>GCA362685163DSPc.3929A>G (p.Lys1310Arg)
c.3582+347A>G (n.3582+347A>G)
gnomAD v4
6g.7580119A>TCA362685164DSPc.3929A>T (p.Lys1310Met)
c.3582+347A>T (n.3582+347A>T)
6g.7580120G>ACA448714484DSPc.3930G>A (p.Lys1310=)
c.3582+348G>A (n.3582+348G>A)
6g.7580120G>CCA362685165DSPc.3930G>C (p.Lys1310Asn)
c.3582+348G>C (n.3582+348G>C)
6g.7580120G>TCA362685166DSPc.3930G>T (p.Lys1310Asn)
c.3582+348G>T (n.3582+348G>T)
6g.7580121delCA2695206011DSPc.3931del (p.Gln1311SerfsTer?)
c.3582+349del (n.3582+349del)
6g.7580121C>ACA362685167DSPc.3931C>A (p.Gln1311Lys)
c.3582+349C>A (n.3582+349C>A)
6g.7580121C>GCA362685168DSPc.3931C>G (p.Gln1311Glu)
c.3582+349C>G (n.3582+349C>G)
6g.7580121C>TCA362685169DSPc.3931C>T (p.Gln1311Ter)
c.3582+349C>T (n.3582+349C>T)
ClinVar
6g.7580122A>CCA362685170DSPc.3932A>C (p.Gln1311Pro)
c.3582+350A>C (n.3582+350A>C)
ClinVar gnomAD v4
6g.7580122A>GCA362685171DSPc.3932A>G (p.Gln1311Arg)
c.3582+350A>G (n.3582+350A>G)
6g.7580122A>TCA362685172DSPc.3932A>T (p.Gln1311Leu)
c.3582+350A>T (n.3582+350A>T)
6g.7580123G>ACA448714485DSPc.3933G>A (p.Gln1311=)
c.3582+351G>A (n.3582+351G>A)
gnomAD v4
6g.7580123G>CCA362685173DSPc.3933G>C (p.Gln1311His)
c.3582+351G>C (n.3582+351G>C)
6g.7580123G>TCA362685174DSPc.3933G>T (p.Gln1311His)
c.3582+351G>T (n.3582+351G>T)
gnomAD v4
6g.7580124T>ACA362685177DSPc.3934T>A (p.Ser1312Thr)
c.3582+352T>A (n.3582+352T>A)
6g.7580124T>CCA362685175DSPc.3934T>C (p.Ser1312Pro)
c.3582+352T>C (n.3582+352T>C)
ClinVar
6g.7580124T>GCA362685176DSPc.3934T>G (p.Ser1312Ala)
c.3582+352T>G (n.3582+352T>G)
6g.7580125C>ACA362685178DSPc.3935C>A (p.Ser1312Tyr)
c.3582+353C>A (n.3582+353C>A)
6g.7580125C=CA1608615918DSPc.3935C= (p.Ser1312=)
c.3582+353C= (n.3582+353C=)
6g.7580125C>GCA362685179DSPc.3935C>G (p.Ser1312Cys)
c.3582+353C>G (n.3582+353C>G)
ClinVar dbSNP
6g.7580125C>TCA362685180DSPc.3935C>T (p.Ser1312Phe)
c.3582+353C>T (n.3582+353C>T)
COSMIC
6g.7580126C>ACA448714488DSPc.3936C>A (p.Ser1312=)
c.3582+354C>A (n.3582+354C>A)
6g.7580126C>GCA448714489DSPc.3936C>G (p.Ser1312=)
c.3582+354C>G (n.3582+354C>G)
6g.7580126C>TCA448714490DSPc.3936C>T (p.Ser1312=)
c.3582+354C>T (n.3582+354C>T)
6g.7580127C>ACA362685181DSPc.3937C>A (p.Leu1313Met)
c.3582+355C>A (n.3582+355C>A)
6g.7580127C>GCA362685182DSPc.3937C>G (p.Leu1313Val)
c.3582+355C>G (n.3582+355C>G)
6g.7580127C>TCA448714491DSPc.3937C>T (p.Leu1313=)
c.3582+355C>T (n.3582+355C>T)
6g.7580127_7580128delinsCTCA1608615930DSPc.3937_3938delinsCT (p.Leu1313=)
c.3582+355_3582+356delinsCT (n.3582+355_3582+356delinsCT)
6g.7580128delCA1608615938DSPc.3938del (p.Leu1313ArgfsTer?)
c.3582+356del (n.3582+356del)
dbSNP
6g.7580128T>ACA362685183DSPc.3938T>A (p.Leu1313Gln)
c.3582+356T>A (n.3582+356T>A)
6g.7580128T>CCA362685184DSPc.3938T>C (p.Leu1313Pro)
c.3582+356T>C (n.3582+356T>C)
6g.7580128T>GCA362685185DSPc.3938T>G (p.Leu1313Arg)
c.3582+356T>G (n.3582+356T>G)
6g.7580129G>ACA448714492DSPc.3939G>A (p.Leu1313=)
c.3582+357G>A (n.3582+357G>A)
6g.7580129G>CCA448714494DSPc.3939G>C (p.Leu1313=)
c.3582+357G>C (n.3582+357G>C)
6g.7580129G>TCA448714495DSPc.3939G>T (p.Leu1313=)
c.3582+357G>T (n.3582+357G>T)
6g.7580130_7580144delCA2677234294DSPc.3940_3954del (p.Glu1314_Lys1318del)
c.3582+358_3582+372del (n.3582+358_3582+372del)
gnomAD v4
6g.7580130G>ACA362685186DSPc.3940G>A (p.Glu1314Lys)
c.3582+358G>A (n.3582+358G>A)
6g.7580130G>CCA362685187DSPc.3940G>C (p.Glu1314Gln)
c.3582+358G>C (n.3582+358G>C)
6g.7580130G>TCA362685188DSPc.3940G>T (p.Glu1314Ter)
c.3582+358G>T (n.3582+358G>T)
6g.7580131A=CA1608615943DSPc.3941A= (p.Glu1314=)
c.3582+359A= (n.3582+359A=)
6g.7580131A>CCA362685189DSPc.3941A>C (p.Glu1314Ala)
c.3582+359A>C (n.3582+359A>C)
6g.7580131A>GCA362685191DSPc.3941A>G (p.Glu1314Gly)
c.3582+359A>G (n.3582+359A>G)
ClinVar dbSNP gnomAD v3 gnomAD v4
6g.7580131A>TCA362685190DSPc.3941A>T (p.Glu1314Val)
c.3582+359A>T (n.3582+359A>T)
6g.7580132G>ACA448714498DSPc.3942G>A (p.Glu1314=)
c.3582+360G>A (n.3582+360G>A)
gnomAD v4
6g.7580132G>CCA362685192DSPc.3942G>C (p.Glu1314Asp)
c.3582+360G>C (n.3582+360G>C)
6g.7580132G>TCA362685193DSPc.3942G>T (p.Glu1314Asp)
c.3582+360G>T (n.3582+360G>T)
6g.7580133G>ACA362685194DSPc.3943G>A (p.Glu1315Lys)
c.3582+361G>A (n.3582+361G>A)
gnomAD v4
6g.7580133G>CCA362685195DSPc.3943G>C (p.Glu1315Gln)
c.3582+361G>C (n.3582+361G>C)
6g.7580133G>TCA362685196DSPc.3943G>T (p.Glu1315Ter)
c.3582+361G>T (n.3582+361G>T)
6g.7580134A>CCA362685197DSPc.3944A>C (p.Glu1315Ala)
c.3582+362A>C (n.3582+362A>C)
6g.7580134A>GCA362685198DSPc.3944A>G (p.Glu1315Gly)
c.3582+362A>G (n.3582+362A>G)
6g.7580134A>TCA362685199DSPc.3944A>T (p.Glu1315Val)
c.3582+362A>T (n.3582+362A>T)
6g.7580135G>ACA448714499DSPc.3945G>A (p.Glu1315=)
c.3582+363G>A (n.3582+363G>A)
ClinVar gnomAD v4
6g.7580135G>CCA362685200DSPc.3945G>C (p.Glu1315Asp)
c.3582+363G>C (n.3582+363G>C)
6g.7580135G>TCA362685201DSPc.3945G>T (p.Glu1315Asp)
c.3582+363G>T (n.3582+363G>T)
6g.7580136G>ACA362685204DSPc.3946G>A (p.Ala1316Thr)
c.3582+364G>A (n.3582+364G>A)
6g.7580136G>CCA362685203DSPc.3946G>C (p.Ala1316Pro)
c.3582+364G>C (n.3582+364G>C)
6g.7580136G>TCA362685202DSPc.3946G>T (p.Ala1316Ser)
c.3582+364G>T (n.3582+364G>T)
6g.7580137C>ACA362685205DSPc.3947C>A (p.Ala1316Asp)
c.3582+365C>A (n.3582+365C>A)
6g.7580137C=CA1608615944DSPc.3947C= (p.Ala1316=)
c.3582+365C= (n.3582+365C=)
6g.7580137C>GCA362685206DSPc.3947C>G (p.Ala1316Gly)
c.3582+365C>G (n.3582+365C>G)
ClinVar gnomAD v4
6g.7580137C>TCA362685207DSPc.3947C>T (p.Ala1316Val)
c.3582+365C>T (n.3582+365C>T)
dbSNP gnomAD v2 gnomAD v4
6g.7580138delCA2677234296DSPc.3948del (p.Ala1317ProfsTer?)
c.3582+366del (n.3582+366del)
gnomAD v4
6g.7580138T>ACA448714503DSPc.3948T>A (p.Ala1316=)
c.3582+366T>A (n.3582+366T>A)
6g.7580138T>CCA448714502DSPc.3948T>C (p.Ala1316=)
c.3582+366T>C (n.3582+366T>C)
ClinVar dbSNP
6g.7580138T>GCA448714501DSPc.3948T>G (p.Ala1316=)
c.3582+366T>G (n.3582+366T>G)
6g.7580138T=CA1608615947DSPc.3948T= (p.Ala1316=)
c.3582+366T= (n.3582+366T=)
6g.7580139G>ACA362685208DSPc.3949G>A (p.Ala1317Thr)
c.3582+367G>A (n.3582+367G>A)
6g.7580139G>CCA362685209DSPc.3949G>C (p.Ala1317Pro)
c.3582+367G>C (n.3582+367G>C)
gnomAD v4
6g.7580139G>TCA362685210DSPc.3949G>T (p.Ala1317Ser)
c.3582+367G>T (n.3582+367G>T)
6g.7580140C>ACA362685211DSPc.3950C>A (p.Ala1317Asp)
c.3582+368C>A (n.3582+368C>A)
6g.7580140C>GCA362685212DSPc.3950C>G (p.Ala1317Gly)
c.3582+368C>G (n.3582+368C>G)
6g.7580140C>TCA362685213DSPc.3950C>T (p.Ala1317Val)
c.3582+368C>T (n.3582+368C>T)
6g.7580141C>ACA448714505DSPc.3951C>A (p.Ala1317=)
c.3582+369C>A (n.3582+369C>A)
6g.7580141C>GCA448714506DSPc.3951C>G (p.Ala1317=)
c.3582+369C>G (n.3582+369C>G)
6g.7580141C>TCA448714507DSPc.3951C>T (p.Ala1317=)
c.3582+369C>T (n.3582+369C>T)
6g.7580142A>CCA362685214DSPc.3952A>C (p.Lys1318Gln)
c.3582+370A>C (n.3582+370A>C)
6g.7580142A>GCA362685215DSPc.3952A>G (p.Lys1318Glu)
c.3582+370A>G (n.3582+370A>G)
gnomAD v4
6g.7580142A>TCA362685216DSPc.3952A>T (p.Lys1318Ter)
c.3582+370A>T (n.3582+370A>T)
6g.7580143A=CA1608615950DSPc.3953A= (p.Lys1318=)
c.3582+371A= (n.3582+371A=)
6g.7580143A>CCA362685218DSPc.3953A>C (p.Lys1318Thr)
c.3582+371A>C (n.3582+371A>C)
6g.7580143A>GCA362685219DSPc.3953A>G (p.Lys1318Arg)
c.3582+371A>G (n.3582+371A>G)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.7580143A>TCA362685217DSPc.3953A>T (p.Lys1318Met)
c.3582+371A>T (n.3582+371A>T)
6g.7580144G>ACA133969022DSPc.3954G>A (p.Lys1318=)
c.3582+372G>A (n.3582+372G>A)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.7580144G>CCA362685220DSPc.3954G>C (p.Lys1318Asn)
c.3582+372G>C (n.3582+372G>C)
6g.7580144G=CA1608615952DSPc.3954G= (p.Lys1318=)
c.3582+372G= (n.3582+372G=)
6g.7580144G>TCA362685221DSPc.3954G>T (p.Lys1318Asn)
c.3582+372G>T (n.3582+372G>T)
6g.7580145A>CCA362685222DSPc.3955A>C (p.Thr1319Pro)
c.3582+373A>C (n.3582+373A>C)
6g.7580145A>GCA362685223DSPc.3955A>G (p.Thr1319Ala)
c.3582+373A>G (n.3582+373A>G)
6g.7580145A>TCA362685224DSPc.3955A>T (p.Thr1319Ser)
c.3582+373A>T (n.3582+373A>T)
6g.7580146C>ACA362685225DSPc.3956C>A (p.Thr1319Asn)
c.3582+374C>A (n.3582+374C>A)
6g.7580146C=CA1608615962DSPc.3956C= (p.Thr1319=)
c.3582+374C= (n.3582+374C=)
6g.7580146C>GCA004299DSPc.3956C>G (p.Thr1319Ser)
c.3582+374C>G (n.3582+374C>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.7580146C>TCA039644DSPc.3956C>T (p.Thr1319Ile)
c.3582+374C>T (n.3582+374C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.7580147C>ACA448714509DSPc.3957C>A (p.Thr1319=)
c.3582+375C>A (n.3582+375C>A)
6g.7580147C>GCA448714510DSPc.3957C>G (p.Thr1319=)
c.3582+375C>G (n.3582+375C>G)
6g.7580147C>TCA448714511DSPc.3957C>T (p.Thr1319=)
c.3582+375C>T (n.3582+375C>T)
ClinVar dbSNP
6g.7580149_7580152delCA2580075412DSPc.3959_3962del (p.Ile1320ArgfsTer28)
c.3582+377_3582+380del (n.3582+377_3582+380del)
ClinVar
6g.7580148A=CA1608615966DSPc.3958A= (p.Ile1320=)
c.3582+376A= (n.3582+376A=)
6g.7580148A>CCA362685226DSPc.3958A>C (p.Ile1320Leu)
c.3582+376A>C (n.3582+376A>C)
gnomAD v4
6g.7580148A>GCA362685227DSPc.3958A>G (p.Ile1320Val)
c.3582+376A>G (n.3582+376A>G)
ClinVar dbSNP gnomAD v2 gnomAD v4
6g.7580148A>TCA362685228DSPc.3958A>T (p.Ile1320Phe)
c.3582+376A>T (n.3582+376A>T)
6g.7580149T>ACA362685229DSPc.3959T>A (p.Ile1320Asn)
c.3582+377T>A (n.3582+377T>A)
6g.7580149T>CCA362685230DSPc.3959T>C (p.Ile1320Thr)
c.3582+377T>C (n.3582+377T>C)
6g.7580149T>GCA362685231DSPc.3959T>G (p.Ile1320Ser)
c.3582+377T>G (n.3582+377T>G)
6g.7580150T>ACA448714512DSPc.3960T>A (p.Ile1320=)
c.3582+378T>A (n.3582+378T>A)
6g.7580150T>CCA448714513DSPc.3960T>C (p.Ile1320=)
c.3582+378T>C (n.3582+378T>C)
6g.7580150T>GCA362685232DSPc.3960T>G (p.Ile1320Met)
c.3582+378T>G (n.3582+378T>G)
6g.7580151C>ACA362685233DSPc.3961C>A (p.Gln1321Lys)
c.3582+379C>A (n.3582+379C>A)
6g.7580151C=CA1608615970DSPc.3961C= (p.Gln1321=)
c.3582+379C= (n.3582+379C=)
6g.7580151C>GCA362685234DSPc.3961C>G (p.Gln1321Glu)
c.3582+379C>G (n.3582+379C>G)
6g.7580151C>TCA004306DSPc.3961C>T (p.Gln1321Ter)
c.3582+379C>T (n.3582+379C>T)
ClinVar dbSNP
6g.7580152A>CCA362685235DSPc.3962A>C (p.Gln1321Pro)
c.3582+380A>C (n.3582+380A>C)
6g.7580152A>GCA362685236DSPc.3962A>G (p.Gln1321Arg)
c.3582+380A>G (n.3582+380A>G)
ClinVar
6g.7580152A>TCA362685237DSPc.3962A>T (p.Gln1321Leu)
c.3582+380A>T (n.3582+380A>T)
6g.7580153G>ACA004313DSPc.3963G>A (p.Gln1321=)
c.3582+381G>A (n.3582+381G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.7580153G>CCA133969066DSPc.3963G>C (p.Gln1321His)
c.3582+381G>C (n.3582+381G>C)
dbSNP
6g.7580153G=CA1608615971DSPc.3963G= (p.Gln1321=)
c.3582+381G= (n.3582+381G=)
6g.7580153G>TCA362685238DSPc.3963G>T (p.Gln1321His)
c.3582+381G>T (n.3582+381G>T)

Number of alleles fetched