Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.7580052_7580054del | CA039247 | DSP | c.3862_3864del (p.Lys1288del) c.3582+280_3582+282del (n.3582+280_3582+282del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.7580053A= | CA1608615676 | DSP | c.3863A= (p.Lys1288=) c.3582+281A= (n.3582+281A=) | |
6 | g.7580053A>C | CA362685020 | DSP | c.3863A>C (p.Lys1288Thr) c.3582+281A>C (n.3582+281A>C) | COSMIC |
6 | g.7580053A>G | CA039305 | DSP | c.3863A>G (p.Lys1288Arg) c.3582+281A>G (n.3582+281A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7580053A>T | CA362685021 | DSP | c.3863A>T (p.Lys1288Met) c.3582+281A>T (n.3582+281A>T) | |
6 | g.7580054G>A | CA039327 | DSP | c.3864G>A (p.Lys1288=) c.3582+282G>A (n.3582+282G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7580054G>C | CA362685022 | DSP | c.3864G>C (p.Lys1288Asn) c.3582+282G>C (n.3582+282G>C) | |
6 | g.7580054G= | CA1608615686 | DSP | c.3864G= (p.Lys1288=) c.3582+282G= (n.3582+282G=) | |
6 | g.7580054G>T | CA133968942 | DSP | c.3864G>T (p.Lys1288Asn) c.3582+282G>T (n.3582+282G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.7580055C>A | CA362685023 | DSP | c.3865C>A (p.Gln1289Lys) c.3582+283C>A (n.3582+283C>A) | gnomAD v4 |
6 | g.7580055C= | CA1608615692 | DSP | c.3865C= (p.Gln1289=) c.3582+283C= (n.3582+283C=) | |
6 | g.7580055C>G | CA362685024 | DSP | c.3865C>G (p.Gln1289Glu) c.3582+283C>G (n.3582+283C>G) | |
6 | g.7580055C>T | CA039350 | DSP | c.3865C>T (p.Gln1289Ter) c.3582+283C>T (n.3582+283C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7580056A>C | CA362685025 | DSP | c.3866A>C (p.Gln1289Pro) c.3582+284A>C (n.3582+284A>C) | |
6 | g.7580056A>G | CA362685026 | DSP | c.3866A>G (p.Gln1289Arg) c.3582+284A>G (n.3582+284A>G) | gnomAD v4 |
6 | g.7580056A>T | CA362685027 | DSP | c.3866A>T (p.Gln1289Leu) c.3582+284A>T (n.3582+284A>T) | |
6 | g.7580057G>A | CA448715261 | DSP | c.3867G>A (p.Gln1289=) c.3582+285G>A (n.3582+285G>A) | |
6 | g.7580057G>C | CA362685028 | DSP | c.3867G>C (p.Gln1289His) c.3582+285G>C (n.3582+285G>C) | |
6 | g.7580057G>T | CA362685029 | DSP | c.3867G>T (p.Gln1289His) c.3582+285G>T (n.3582+285G>T) | |
6 | g.7580058C>A | CA362685032 | DSP | c.3868C>A (p.His1290Asn) c.3582+286C>A (n.3582+286C>A) | |
6 | g.7580058C>G | CA362685031 | DSP | c.3868C>G (p.His1290Asp) c.3582+286C>G (n.3582+286C>G) | |
6 | g.7580058C>T | CA362685030 | DSP | c.3868C>T (p.His1290Tyr) c.3582+286C>T (n.3582+286C>T) | |
6 | g.7580059A>C | CA362685033 | DSP | c.3869A>C (p.His1290Pro) c.3582+287A>C (n.3582+287A>C) | |
6 | g.7580059A>G | CA362685034 | DSP | c.3869A>G (p.His1290Arg) c.3582+287A>G (n.3582+287A>G) | |
6 | g.7580059A>T | CA362685035 | DSP | c.3869A>T (p.His1290Leu) c.3582+287A>T (n.3582+287A>T) | |
6 | g.7580060T>A | CA362685036 | DSP | c.3870T>A (p.His1290Gln) c.3582+288T>A (n.3582+288T>A) | |
6 | g.7580060T>C | CA039379 | DSP | c.3870T>C (p.His1290=) c.3582+288T>C (n.3582+288T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.7580060T>G | CA362685037 | DSP | c.3870T>G (p.His1290Gln) c.3582+288T>G (n.3582+288T>G) | |
6 | g.7580060T= | CA1608615698 | DSP | c.3870T= (p.His1290=) c.3582+288T= (n.3582+288T=) | |
6 | g.7580061C>A | CA362685038 | DSP | c.3871C>A (p.Leu1291Met) c.3582+289C>A (n.3582+289C>A) | |
6 | g.7580061C= | CA1608615704 | DSP | c.3871C= (p.Leu1291=) c.3582+289C= (n.3582+289C=) | |
6 | g.7580061C>G | CA362685039 | DSP | c.3871C>G (p.Leu1291Val) c.3582+289C>G (n.3582+289C>G) | |
6 | g.7580061C>T | CA039395 | DSP | c.3871C>T (p.Leu1291=) c.3582+289C>T (n.3582+289C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.7580062T>A | CA362685040 | DSP | c.3872T>A (p.Leu1291Gln) c.3582+290T>A (n.3582+290T>A) | |
6 | g.7580062T>C | CA362685041 | DSP | c.3872T>C (p.Leu1291Pro) c.3582+290T>C (n.3582+290T>C) | |
6 | g.7580062T>G | CA362685042 | DSP | c.3872T>G (p.Leu1291Arg) c.3582+290T>G (n.3582+290T>G) | |
6 | g.7580063G>A | CA448715272 | DSP | c.3873G>A (p.Leu1291=) c.3582+291G>A (n.3582+291G>A) | |
6 | g.7580063G>C | CA448715273 | DSP | c.3873G>C (p.Leu1291=) c.3582+291G>C (n.3582+291G>C) | |
6 | g.7580063G>T | CA448715274 | DSP | c.3873G>T (p.Leu1291=) c.3582+291G>T (n.3582+291G>T) | |
6 | g.7580064G>A | CA133968959 | DSP | c.3874G>A (p.Glu1292Lys) c.3582+292G>A (n.3582+292G>A) | dbSNP |
6 | g.7580064G>C | CA362685043 | DSP | c.3874G>C (p.Glu1292Gln) c.3582+292G>C (n.3582+292G>C) | |
6 | g.7580064G= | CA1608615710 | DSP | c.3874G= (p.Glu1292=) c.3582+292G= (n.3582+292G=) | |
6 | g.7580064G>T | CA362685044 | DSP | c.3874G>T (p.Glu1292Ter) c.3582+292G>T (n.3582+292G>T) | |
6 | g.7580064_7580068del | CA645551224 | DSP | c.3874_3878del (p.Glu1292ArgfsTer11) c.3582+292_3582+296del (n.3582+292_3582+296del) | COSMIC |
6 | g.7580065A>C | CA362685045 | DSP | c.3875A>C (p.Glu1292Ala) c.3582+293A>C (n.3582+293A>C) | |
6 | g.7580065A>G | CA362685047 | DSP | c.3875A>G (p.Glu1292Gly) c.3582+293A>G (n.3582+293A>G) | |
6 | g.7580065A>T | CA362685046 | DSP | c.3875A>T (p.Glu1292Val) c.3582+293A>T (n.3582+293A>T) | |
6 | g.7580066G>A | CA448715277 | DSP | c.3876G>A (p.Glu1292=) c.3582+294G>A (n.3582+294G>A) | |
6 | g.7580066G>C | CA362685048 | DSP | c.3876G>C (p.Glu1292Asp) c.3582+294G>C (n.3582+294G>C) | |
6 | g.7580066G>T | CA362685049 | DSP | c.3876G>T (p.Glu1292Asp) c.3582+294G>T (n.3582+294G>T) | |
6 | g.7580067A= | CA1608615716 | DSP | c.3877A= (p.Ile1293=) c.3582+295A= (n.3582+295A=) | |
6 | g.7580067A>C | CA362685050 | DSP | c.3877A>C (p.Ile1293Leu) c.3582+295A>C (n.3582+295A>C) | |
6 | g.7580067A>G | CA039408 | DSP | c.3877A>G (p.Ile1293Val) c.3582+295A>G (n.3582+295A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7580067A>T | CA362685051 | DSP | c.3877A>T (p.Ile1293Leu) c.3582+295A>T (n.3582+295A>T) | |
6 | g.7580068T>A | CA362685052 | DSP | c.3878T>A (p.Ile1293Lys) c.3582+296T>A (n.3582+296T>A) | |
6 | g.7580068T>C | CA039424 | DSP | c.3878T>C (p.Ile1293Thr) c.3582+296T>C (n.3582+296T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7580068T>G | CA362685053 | DSP | c.3878T>G (p.Ile1293Arg) c.3582+296T>G (n.3582+296T>G) | |
6 | g.7580068T= | CA1608615727 | DSP | c.3878T= (p.Ile1293=) c.3582+296T= (n.3582+296T=) | |
6 | g.7580069A= | CA1608615731 | DSP | c.3879A= (p.Ile1293=) c.3582+297A= (n.3582+297A=) | |
6 | g.7580069A>C | CA448715280 | DSP | c.3879A>C (p.Ile1293=) c.3582+297A>C (n.3582+297A>C) | |
6 | g.7580069A>G | CA039437 | DSP | c.3879A>G (p.Ile1293Met) c.3582+297A>G (n.3582+297A>G) | dbSNP ExAC gnomAD v2 |
6 | g.7580069A>T | CA448715281 | DSP | c.3879A>T (p.Ile1293=) c.3582+297A>T (n.3582+297A>T) | |
6 | g.7580070G>A | CA362685054 | DSP | c.3880G>A (p.Glu1294Lys) c.3582+298G>A (n.3582+298G>A) | ClinVar |
6 | g.7580070G>C | CA362685055 | DSP | c.3880G>C (p.Glu1294Gln) c.3582+298G>C (n.3582+298G>C) | |
6 | g.7580070G>T | CA362685056 | DSP | c.3880G>T (p.Glu1294Ter) c.3582+298G>T (n.3582+298G>T) | |
6 | g.7580071A>C | CA362685059 | DSP | c.3881A>C (p.Glu1294Ala) c.3582+299A>C (n.3582+299A>C) | |
6 | g.7580071A>G | CA362685058 | DSP | c.3881A>G (p.Glu1294Gly) c.3582+299A>G (n.3582+299A>G) | |
6 | g.7580071A>T | CA362685057 | DSP | c.3881A>T (p.Glu1294Val) c.3582+299A>T (n.3582+299A>T) | |
6 | g.7580072A>C | CA362685060 | DSP | c.3882A>C (p.Glu1294Asp) c.3582+300A>C (n.3582+300A>C) | |
6 | g.7580072A>G | CA448715287 | DSP | c.3882A>G (p.Glu1294=) c.3582+300A>G (n.3582+300A>G) | |
6 | g.7580072A>T | CA362685061 | DSP | c.3882A>T (p.Glu1294Asp) c.3582+300A>T (n.3582+300A>T) | |
6 | g.7580073C>A | CA362685062 | DSP | c.3883C>A (p.Leu1295Met) c.3582+301C>A (n.3582+301C>A) | |
6 | g.7580073C>G | CA362685063 | DSP | c.3883C>G (p.Leu1295Val) c.3582+301C>G (n.3582+301C>G) | |
6 | g.7580073C>T | CA448715290 | DSP | c.3883C>T (p.Leu1295=) c.3582+301C>T (n.3582+301C>T) | ClinVar |
6 | g.7580074T>A | CA362685064 | DSP | c.3884T>A (p.Leu1295Gln) c.3582+302T>A (n.3582+302T>A) | |
6 | g.7580074T>C | CA362685065 | DSP | c.3884T>C (p.Leu1295Pro) c.3582+302T>C (n.3582+302T>C) | |
6 | g.7580074T>G | CA362685066 | DSP | c.3884T>G (p.Leu1295Arg) c.3582+302T>G (n.3582+302T>G) | |
6 | g.7580075G>A | CA133968977 | DSP | c.3885G>A (p.Leu1295=) c.3582+303G>A (n.3582+303G>A) | dbSNP |
6 | g.7580075G>C | CA448715294 | DSP | c.3885G>C (p.Leu1295=) c.3582+303G>C (n.3582+303G>C) | |
6 | g.7580075G= | CA1608615735 | DSP | c.3885G= (p.Leu1295=) c.3582+303G= (n.3582+303G=) | |
6 | g.7580075G>T | CA448715295 | DSP | c.3885G>T (p.Leu1295=) c.3582+303G>T (n.3582+303G>T) | |
6 | g.7580076A>C | CA362685067 | DSP | c.3886A>C (p.Lys1296Gln) c.3582+304A>C (n.3582+304A>C) | |
6 | g.7580076A>G | CA362685068 | DSP | c.3886A>G (p.Lys1296Glu) c.3582+304A>G (n.3582+304A>G) | |
6 | g.7580076A>T | CA362685069 | DSP | c.3886A>T (p.Lys1296Ter) c.3582+304A>T (n.3582+304A>T) | |
6 | g.7580076_7580088delinsAAGCAGGTCATGC | CA1608615737 | DSP | c.3886_3898delinsAAGCAGGTCATGC (p.Lys1296=) c.3582+304_3582+316delinsAAGCAGGTCATGC (n.3582+304_3582+316delinsAAGCAGGTCATGC) | |
6 | g.7580077A= | CA1608615741 | DSP | c.3887A= (p.Lys1296=) c.3582+305A= (n.3582+305A=) | |
6 | g.7580077A>C | CA362685071 | DSP | c.3887A>C (p.Lys1296Thr) c.3582+305A>C (n.3582+305A>C) | gnomAD v4 |
6 | g.7580077A>G | CA133968978 | DSP | c.3887A>G (p.Lys1296Arg) c.3582+305A>G (n.3582+305A>G) | dbSNP |
6 | g.7580077A>T | CA362685070 | DSP | c.3887A>T (p.Lys1296Met) c.3582+305A>T (n.3582+305A>T) | |
6 | g.7580082_7580093del | CA1608615740 | DSP | c.3892_3903del (p.Val1298_Gln1301del) c.3582+310_3582+321del (n.3582+310_3582+321del) | dbSNP |
6 | g.7580078G>A | CA448715299 | DSP | c.3888G>A (p.Lys1296=) c.3582+306G>A (n.3582+306G>A) | |
6 | g.7580078G>C | CA362685072 | DSP | c.3888G>C (p.Lys1296Asn) c.3582+306G>C (n.3582+306G>C) | |
6 | g.7580078G>T | CA362685073 | DSP | c.3888G>T (p.Lys1296Asn) c.3582+306G>T (n.3582+306G>T) | |
6 | g.7580079C>A | CA362685074 | DSP | c.3889C>A (p.Gln1297Lys) c.3582+307C>A (n.3582+307C>A) | |
6 | g.7580079C= | CA1608615743 | DSP | c.3889C= (p.Gln1297=) c.3582+307C= (n.3582+307C=) | |
6 | g.7580079C>G | CA362685075 | DSP | c.3889C>G (p.Gln1297Glu) c.3582+307C>G (n.3582+307C>G) | |
6 | g.7580079C>T | CA362685076 | DSP | c.3889C>T (p.Gln1297Ter) c.3582+307C>T (n.3582+307C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.7580080A= | CA1608615747 | DSP | c.3890A= (p.Gln1297=) c.3582+308A= (n.3582+308A=) | |
6 | g.7580080A>C | CA362685079 | DSP | c.3890A>C (p.Gln1297Pro) c.3582+308A>C (n.3582+308A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7580080A>G | CA362685077 | DSP | c.3890A>G (p.Gln1297Arg) c.3582+308A>G (n.3582+308A>G) | |
6 | g.7580080A>T | CA362685078 | DSP | c.3890A>T (p.Gln1297Leu) c.3582+308A>T (n.3582+308A>T) | |
6 | g.7580081G>A | CA448715303 | DSP | c.3891G>A (p.Gln1297=) c.3582+309G>A (n.3582+309G>A) | |
6 | g.7580081G>C | CA362685080 | DSP | c.3891G>C (p.Gln1297His) c.3582+309G>C (n.3582+309G>C) | |
6 | g.7580081G>T | CA362685081 | DSP | c.3891G>T (p.Gln1297His) c.3582+309G>T (n.3582+309G>T) | |
6 | g.7580081_7580084dup | CA915944151 | DSP | c.3891_3894dup (p.Met1299GlyfsTer7) c.3582+309_3582+312dup (n.3582+309_3582+312dup) | ClinVar dbSNP |
6 | g.7580082G>A | CA362685082 | DSP | c.3892G>A (p.Val1298Ile) c.3582+310G>A (n.3582+310G>A) | gnomAD v4 |
6 | g.7580082G>C | CA362685083 | DSP | c.3892G>C (p.Val1298Leu) c.3582+310G>C (n.3582+310G>C) | |
6 | g.7580082G>T | CA362685084 | DSP | c.3892G>T (p.Val1298Phe) c.3582+310G>T (n.3582+310G>T) | |
6 | g.7580083T>A | CA362685085 | DSP | c.3893T>A (p.Val1298Asp) c.3582+311T>A (n.3582+311T>A) | |
6 | g.7580083T>C | CA362685087 | DSP | c.3893T>C (p.Val1298Ala) c.3582+311T>C (n.3582+311T>C) | gnomAD v4 |
6 | g.7580083T>G | CA362685086 | DSP | c.3893T>G (p.Val1298Gly) c.3582+311T>G (n.3582+311T>G) | |
6 | g.7580084C>A | CA448715305 | DSP | c.3894C>A (p.Val1298=) c.3582+312C>A (n.3582+312C>A) | ClinVar dbSNP gnomAD v4 |
6 | g.7580084C= | CA1608615757 | DSP | c.3894C= (p.Val1298=) c.3582+312C= (n.3582+312C=) | |
6 | g.7580084C>G | CA448715306 | DSP | c.3894C>G (p.Val1298=) c.3582+312C>G (n.3582+312C>G) | |
6 | g.7580084C>T | CA448715307 | DSP | c.3894C>T (p.Val1298=) c.3582+312C>T (n.3582+312C>T) | |
6 | g.7580085A>C | CA362685088 | DSP | c.3895A>C (p.Met1299Leu) c.3582+313A>C (n.3582+313A>C) | |
6 | g.7580085A>G | CA362685089 | DSP | c.3895A>G (p.Met1299Val) c.3582+313A>G (n.3582+313A>G) | gnomAD v4 |
6 | g.7580085A>T | CA362685090 | DSP | c.3895A>T (p.Met1299Leu) c.3582+313A>T (n.3582+313A>T) | |
6 | g.7580086T>A | CA362685091 | DSP | c.3896T>A (p.Met1299Lys) c.3582+314T>A (n.3582+314T>A) | |
6 | g.7580086T>C | CA362685092 | DSP | c.3896T>C (p.Met1299Thr) c.3582+314T>C (n.3582+314T>C) | ClinVar dbSNP gnomAD v4 |
6 | g.7580086T>G | CA362685093 | DSP | c.3896T>G (p.Met1299Arg) c.3582+314T>G (n.3582+314T>G) | dbSNP gnomAD v4 |
6 | g.7580086T= | CA1608615762 | DSP | c.3896T= (p.Met1299=) c.3582+314T= (n.3582+314T=) | |
6 | g.7580087G>A | CA362685094 | DSP | c.3897G>A (p.Met1299Ile) c.3582+315G>A (n.3582+315G>A) | gnomAD v4 |
6 | g.7580087G>C | CA362685095 | DSP | c.3897G>C (p.Met1299Ile) c.3582+315G>C (n.3582+315G>C) | ClinVar dbSNP |
6 | g.7580087G>T | CA362685096 | DSP | c.3897G>T (p.Met1299Ile) c.3582+315G>T (n.3582+315G>T) | |
6 | g.7580088C>A | CA362685097 | DSP | c.3898C>A (p.Gln1300Lys) c.3582+316C>A (n.3582+316C>A) | |
6 | g.7580088C>G | CA362685098 | DSP | c.3898C>G (p.Gln1300Glu) c.3582+316C>G (n.3582+316C>G) | ClinVar |
6 | g.7580088C>T | CA362685099 | DSP | c.3898C>T (p.Gln1300Ter) c.3582+316C>T (n.3582+316C>T) | |
6 | g.7580089A= | CA1608615771 | DSP | c.3899A= (p.Gln1300=) c.3582+317A= (n.3582+317A=) | |
6 | g.7580089A>C | CA362685101 | DSP | c.3899A>C (p.Gln1300Pro) c.3582+317A>C (n.3582+317A>C) | gnomAD v4 |
6 | g.7580089A>G | CA16612035 | DSP | c.3899A>G (p.Gln1300Arg) c.3582+317A>G (n.3582+317A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.7580089A>T | CA362685100 | DSP | c.3899A>T (p.Gln1300Leu) c.3582+317A>T (n.3582+317A>T) | |
6 | g.7580090G>A | CA448715314 | DSP | c.3900G>A (p.Gln1300=) c.3582+318G>A (n.3582+318G>A) | gnomAD v4 |
6 | g.7580090G>C | CA362685103 | DSP | c.3900G>C (p.Gln1300His) c.3582+318G>C (n.3582+318G>C) | |
6 | g.7580090G>T | CA362685102 | DSP | c.3900G>T (p.Gln1300His) c.3582+318G>T (n.3582+318G>T) | |
6 | g.7580091C>A | CA362685106 | DSP | c.3901C>A (p.Gln1301Lys) c.3582+319C>A (n.3582+319C>A) | |
6 | g.7580091C= | CA1608615780 | DSP | c.3901C= (p.Gln1301=) c.3582+319C= (n.3582+319C=) | |
6 | g.7580091C>G | CA362685104 | DSP | c.3901C>G (p.Gln1301Glu) c.3582+319C>G (n.3582+319C>G) | |
6 | g.7580091C>T | CA362685105 | DSP | c.3901C>T (p.Gln1301Ter) c.3582+319C>T (n.3582+319C>T) | ClinVar dbSNP COSMIC |
6 | g.7580092A>C | CA362685107 | DSP | c.3902A>C (p.Gln1301Pro) c.3582+320A>C (n.3582+320A>C) | |
6 | g.7580092A>G | CA362685108 | DSP | c.3902A>G (p.Gln1301Arg) c.3582+320A>G (n.3582+320A>G) | |
6 | g.7580092A>T | CA362685109 | DSP | c.3902A>T (p.Gln1301Leu) c.3582+320A>T (n.3582+320A>T) | ClinVar dbSNP |
6 | g.7580093G>A | CA448715318 | DSP | c.3903G>A (p.Gln1301=) c.3582+321G>A (n.3582+321G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7580093G>C | CA362685110 | DSP | c.3903G>C (p.Gln1301His) c.3582+321G>C (n.3582+321G>C) | |
6 | g.7580093G= | CA1608615788 | DSP | c.3903G= (p.Gln1301=) c.3582+321G= (n.3582+321G=) | |
6 | g.7580093G>T | CA362685111 | DSP | c.3903G>T (p.Gln1301His) c.3582+321G>T (n.3582+321G>T) | |
6 | g.7580094C>A | CA362685112 | DSP | c.3904C>A (p.Arg1302Ser) c.3582+322C>A (n.3582+322C>A) | |
6 | g.7580094C= | CA1608615801 | DSP | c.3904C= (p.Arg1302=) c.3582+322C= (n.3582+322C=) | |
6 | g.7580094C>G | CA362685113 | DSP | c.3904C>G (p.Arg1302Gly) c.3582+322C>G (n.3582+322C>G) | |
6 | g.7580094C>T | CA039502 | DSP | c.3904C>T (p.Arg1302Cys) c.3582+322C>T (n.3582+322C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7580095G>A | CA039514 | DSP | c.3905G>A (p.Arg1302His) c.3582+323G>A (n.3582+323G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.7580095G>C | CA362685114 | DSP | c.3905G>C (p.Arg1302Pro) c.3582+323G>C (n.3582+323G>C) | |
6 | g.7580095G= | CA1608615815 | DSP | c.3905G= (p.Arg1302=) c.3582+323G= (n.3582+323G=) | |
6 | g.7580095G>T | CA362685115 | DSP | c.3905G>T (p.Arg1302Leu) c.3582+323G>T (n.3582+323G>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.7580096C>A | CA448715323 | DSP | c.3906C>A (p.Arg1302=) c.3582+324C>A (n.3582+324C>A) | |
6 | g.7580096C>G | CA448715324 | DSP | c.3906C>G (p.Arg1302=) c.3582+324C>G (n.3582+324C>G) | |
6 | g.7580096C>T | CA448715322 | DSP | c.3906C>T (p.Arg1302=) c.3582+324C>T (n.3582+324C>T) | gnomAD v4 |
6 | g.7580097T>A | CA362685118 | DSP | c.3907T>A (p.Ser1303Thr) c.3582+325T>A (n.3582+325T>A) | |
6 | g.7580097T>C | CA362685116 | DSP | c.3907T>C (p.Ser1303Pro) c.3582+325T>C (n.3582+325T>C) | |
6 | g.7580097T>G | CA362685117 | DSP | c.3907T>G (p.Ser1303Ala) c.3582+325T>G (n.3582+325T>G) | |
6 | g.7580098C>A | CA362685119 | DSP | c.3908C>A (p.Ser1303Tyr) c.3582+326C>A (n.3582+326C>A) | |
6 | g.7580098C>G | CA362685120 | DSP | c.3908C>G (p.Ser1303Cys) c.3582+326C>G (n.3582+326C>G) | |
6 | g.7580098C>T | CA362685121 | DSP | c.3908C>T (p.Ser1303Phe) c.3582+326C>T (n.3582+326C>T) | |
6 | g.7580099_7580111del | CA2580075409 | DSP | c.3909_3921del (p.Glu1304GlyfsTer?) c.3582+327_3582+339del (n.3582+327_3582+339del) | ClinVar |
6 | g.7580099T>A | CA448715330 | DSP | c.3909T>A (p.Ser1303=) c.3582+327T>A (n.3582+327T>A) | |
6 | g.7580099T>C | CA448715331 | DSP | c.3909T>C (p.Ser1303=) c.3582+327T>C (n.3582+327T>C) | |
6 | g.7580099T>G | CA448715333 | DSP | c.3909T>G (p.Ser1303=) c.3582+327T>G (n.3582+327T>G) | |
6 | g.7580100G>A | CA362685122 | DSP | c.3910G>A (p.Glu1304Lys) c.3582+328G>A (n.3582+328G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7580100G>C | CA362685123 | DSP | c.3910G>C (p.Glu1304Gln) c.3582+328G>C (n.3582+328G>C) | |
6 | g.7580100G= | CA1608615825 | DSP | c.3910G= (p.Glu1304=) c.3582+328G= (n.3582+328G=) | |
6 | g.7580100G>T | CA362685124 | DSP | c.3910G>T (p.Glu1304Ter) c.3582+328G>T (n.3582+328G>T) | |
6 | g.7580101A>C | CA362685125 | DSP | c.3911A>C (p.Glu1304Ala) c.3582+329A>C (n.3582+329A>C) | |
6 | g.7580101A>G | CA362685126 | DSP | c.3911A>G (p.Glu1304Gly) c.3582+329A>G (n.3582+329A>G) | |
6 | g.7580101A>T | CA362685127 | DSP | c.3911A>T (p.Glu1304Val) c.3582+329A>T (n.3582+329A>T) | |
6 | g.7580102G>A | CA448715338 | DSP | c.3912G>A (p.Glu1304=) c.3582+330G>A (n.3582+330G>A) | |
6 | g.7580102G>C | CA039532 | DSP | c.3912G>C (p.Glu1304Asp) c.3582+330G>C (n.3582+330G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7580102G= | CA1608615841 | DSP | c.3912G= (p.Glu1304=) c.3582+330G= (n.3582+330G=) | |
6 | g.7580102G>T | CA362685128 | DSP | c.3912G>T (p.Glu1304Asp) c.3582+330G>T (n.3582+330G>T) | |
6 | g.7580103del | CA2573050737 | DSP | c.3913del (p.Asp1305ThrfsTer?) c.3582+331del (n.3582+331del) | |
6 | g.7580103G>A | CA362685131 | DSP | c.3913G>A (p.Asp1305Asn) c.3582+331G>A (n.3582+331G>A) | ClinVar |
6 | g.7580103G>C | CA362685130 | DSP | c.3913G>C (p.Asp1305His) c.3582+331G>C (n.3582+331G>C) | |
6 | g.7580103G>T | CA362685129 | DSP | c.3913G>T (p.Asp1305Tyr) c.3582+331G>T (n.3582+331G>T) | |
6 | g.7580104A>C | CA362685132 | DSP | c.3914A>C (p.Asp1305Ala) c.3582+332A>C (n.3582+332A>C) | |
6 | g.7580104A>G | CA362685133 | DSP | c.3914A>G (p.Asp1305Gly) c.3582+332A>G (n.3582+332A>G) | |
6 | g.7580104A>T | CA362685134 | DSP | c.3914A>T (p.Asp1305Val) c.3582+332A>T (n.3582+332A>T) | |
6 | g.7580105C>A | CA362685135 | DSP | c.3915C>A (p.Asp1305Glu) c.3582+333C>A (n.3582+333C>A) | |
6 | g.7580105C= | CA1608615844 | DSP | c.3915C= (p.Asp1305=) c.3582+333C= (n.3582+333C=) | |
6 | g.7580105C>G | CA039550 | DSP | c.3915C>G (p.Asp1305Glu) c.3582+333C>G (n.3582+333C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.7580105C>T | CA448715342 | DSP | c.3915C>T (p.Asp1305=) c.3582+333C>T (n.3582+333C>T) | gnomAD v4 |
6 | g.7580106A>C | CA362685138 | DSP | c.3916A>C (p.Asn1306His) c.3582+334A>C (n.3582+334A>C) | |
6 | g.7580106A>G | CA362685137 | DSP | c.3916A>G (p.Asn1306Asp) c.3582+334A>G (n.3582+334A>G) | |
6 | g.7580106A>T | CA362685136 | DSP | c.3916A>T (p.Asn1306Tyr) c.3582+334A>T (n.3582+334A>T) | |
6 | g.7580107A>C | CA362685139 | DSP | c.3917A>C (p.Asn1306Thr) c.3582+335A>C (n.3582+335A>C) | |
6 | g.7580107A>G | CA362685140 | DSP | c.3917A>G (p.Asn1306Ser) c.3582+335A>G (n.3582+335A>G) | |
6 | g.7580107A>T | CA362685141 | DSP | c.3917A>T (p.Asn1306Ile) c.3582+335A>T (n.3582+335A>T) | |
6 | g.7580108T>A | CA362685142 | DSP | c.3918T>A (p.Asn1306Lys) c.3582+336T>A (n.3582+336T>A) | |
6 | g.7580108T>C | CA039568 | DSP | c.3918T>C (p.Asn1306=) c.3582+336T>C (n.3582+336T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.7580108T>G | CA362685143 | DSP | c.3918T>G (p.Asn1306Lys) c.3582+336T>G (n.3582+336T>G) | |
6 | g.7580108T= | CA1608615848 | DSP | c.3918T= (p.Asn1306=) c.3582+336T= (n.3582+336T=) | |
6 | g.7580109G>A | CA039587 | DSP | c.3919G>A (p.Ala1307Thr) c.3582+337G>A (n.3582+337G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7580109G>C | CA362685145 | DSP | c.3919G>C (p.Ala1307Pro) c.3582+337G>C (n.3582+337G>C) | |
6 | g.7580109G= | CA1608615854 | DSP | c.3919G= (p.Ala1307=) c.3582+337G= (n.3582+337G=) | |
6 | g.7580109G>T | CA362685144 | DSP | c.3919G>T (p.Ala1307Ser) c.3582+337G>T (n.3582+337G>T) | ClinVar dbSNP |
6 | g.7580109_7580110delinsTT | CA2740090879 | DSP | c.3919_3920delinsTT (p.Ala1307Phe) c.3582+337_3582+338delinsTT (n.3582+337_3582+338delinsTT) | ClinVar |
6 | g.7580110C>A | CA362685146 | DSP | c.3920C>A (p.Ala1307Asp) c.3582+338C>A (n.3582+338C>A) | |
6 | g.7580110C>G | CA362685147 | DSP | c.3920C>G (p.Ala1307Gly) c.3582+338C>G (n.3582+338C>G) | |
6 | g.7580110C>T | CA362685148 | DSP | c.3920C>T (p.Ala1307Val) c.3582+338C>T (n.3582+338C>T) | gnomAD v4 COSMIC |
6 | g.7580111C>A | CA448714472 | DSP | c.3921C>A (p.Ala1307=) c.3582+339C>A (n.3582+339C>A) | |
6 | g.7580111C>G | CA448714473 | DSP | c.3921C>G (p.Ala1307=) c.3582+339C>G (n.3582+339C>G) | gnomAD v4 |
6 | g.7580111C>T | CA448714474 | DSP | c.3921C>T (p.Ala1307=) c.3582+339C>T (n.3582+339C>T) | gnomAD v4 |
6 | g.7580112C>A | CA448714475 | DSP | c.3922C>A (p.Arg1308=) c.3582+340C>A (n.3582+340C>A) | |
6 | g.7580112C= | CA1608615865 | DSP | c.3922C= (p.Arg1308=) c.3582+340C= (n.3582+340C=) | |
6 | g.7580112C>G | CA362685149 | DSP | c.3922C>G (p.Arg1308Gly) c.3582+340C>G (n.3582+340C>G) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.7580112C>T | CA039598 | DSP | c.3922C>T (p.Arg1308Trp) c.3582+340C>T (n.3582+340C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.7580113G>A | CA004286 | DSP | c.3923G>A (p.Arg1308Gln) c.3582+341G>A (n.3582+341G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7580113G>C | CA039623 | DSP | c.3923G>C (p.Arg1308Pro) c.3582+341G>C (n.3582+341G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7580113G= | CA1608615877 | DSP | c.3923G= (p.Arg1308=) c.3582+341G= (n.3582+341G=) | |
6 | g.7580113G>T | CA362685150 | DSP | c.3923G>T (p.Arg1308Leu) c.3582+341G>T (n.3582+341G>T) | ClinVar dbSNP |
6 | g.7580114del | CA2695206010 | DSP | c.3924del (p.His1309ThrfsTer?) c.3582+342del (n.3582+342del) | |
6 | g.7580114_7580120del | CA645551225 | DSP | c.3924_3930del (p.His1309SerfsTer?) c.3582+342_3582+348del (n.3582+342_3582+348del) | COSMIC |
6 | g.7580114G>A | CA448714477 | DSP | c.3924G>A (p.Arg1308=) c.3582+342G>A (n.3582+342G>A) | gnomAD v4 COSMIC |
6 | g.7580114G>C | CA448714478 | DSP | c.3924G>C (p.Arg1308=) c.3582+342G>C (n.3582+342G>C) | |
6 | g.7580114G>T | CA448714479 | DSP | c.3924G>T (p.Arg1308=) c.3582+342G>T (n.3582+342G>T) | |
6 | g.7580114_7580115del | CA2580075410 | DSP | c.3924_3925del (p.His1309GlnfsTer16) c.3582+342_3582+343del (n.3582+342_3582+343del) | ClinVar |
6 | g.7580115C>A | CA362685151 | DSP | c.3925C>A (p.His1309Asn) c.3582+343C>A (n.3582+343C>A) | |
6 | g.7580115C>G | CA362685152 | DSP | c.3925C>G (p.His1309Asp) c.3582+343C>G (n.3582+343C>G) | |
6 | g.7580115C>T | CA362685153 | DSP | c.3925C>T (p.His1309Tyr) c.3582+343C>T (n.3582+343C>T) | |
6 | g.7580116A>C | CA362685155 | DSP | c.3926A>C (p.His1309Pro) c.3582+344A>C (n.3582+344A>C) | |
6 | g.7580116A>G | CA362685156 | DSP | c.3926A>G (p.His1309Arg) c.3582+344A>G (n.3582+344A>G) | |
6 | g.7580116A>T | CA362685154 | DSP | c.3926A>T (p.His1309Leu) c.3582+344A>T (n.3582+344A>T) | |
6 | g.7580117C>A | CA362685157 | DSP | c.3927C>A (p.His1309Gln) c.3582+345C>A (n.3582+345C>A) | |
6 | g.7580117C>G | CA362685158 | DSP | c.3927C>G (p.His1309Gln) c.3582+345C>G (n.3582+345C>G) | |
6 | g.7580117C>T | CA448714482 | DSP | c.3927C>T (p.His1309=) c.3582+345C>T (n.3582+345C>T) | |
6 | g.7580118A= | CA1608615912 | DSP | c.3928A= (p.Lys1310=) c.3582+346A= (n.3582+346A=) | |
6 | g.7580118A>C | CA362685159 | DSP | c.3928A>C (p.Lys1310Gln) c.3582+346A>C (n.3582+346A>C) | |
6 | g.7580118A>G | CA362685161 | DSP | c.3928A>G (p.Lys1310Glu) c.3582+346A>G (n.3582+346A>G) | gnomAD v4 |
6 | g.7580118A>T | CA362685160 | DSP | c.3928A>T (p.Lys1310Ter) c.3582+346A>T (n.3582+346A>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.7580119A>C | CA362685162 | DSP | c.3929A>C (p.Lys1310Thr) c.3582+347A>C (n.3582+347A>C) | ClinVar gnomAD v4 |
6 | g.7580119A>G | CA362685163 | DSP | c.3929A>G (p.Lys1310Arg) c.3582+347A>G (n.3582+347A>G) | gnomAD v4 |
6 | g.7580119A>T | CA362685164 | DSP | c.3929A>T (p.Lys1310Met) c.3582+347A>T (n.3582+347A>T) | |
6 | g.7580120G>A | CA448714484 | DSP | c.3930G>A (p.Lys1310=) c.3582+348G>A (n.3582+348G>A) | |
6 | g.7580120G>C | CA362685165 | DSP | c.3930G>C (p.Lys1310Asn) c.3582+348G>C (n.3582+348G>C) | |
6 | g.7580120G>T | CA362685166 | DSP | c.3930G>T (p.Lys1310Asn) c.3582+348G>T (n.3582+348G>T) | |
6 | g.7580121del | CA2695206011 | DSP | c.3931del (p.Gln1311SerfsTer?) c.3582+349del (n.3582+349del) | |
6 | g.7580121C>A | CA362685167 | DSP | c.3931C>A (p.Gln1311Lys) c.3582+349C>A (n.3582+349C>A) | |
6 | g.7580121C>G | CA362685168 | DSP | c.3931C>G (p.Gln1311Glu) c.3582+349C>G (n.3582+349C>G) | |
6 | g.7580121C>T | CA362685169 | DSP | c.3931C>T (p.Gln1311Ter) c.3582+349C>T (n.3582+349C>T) | ClinVar |
6 | g.7580122A>C | CA362685170 | DSP | c.3932A>C (p.Gln1311Pro) c.3582+350A>C (n.3582+350A>C) | ClinVar gnomAD v4 |
6 | g.7580122A>G | CA362685171 | DSP | c.3932A>G (p.Gln1311Arg) c.3582+350A>G (n.3582+350A>G) | |
6 | g.7580122A>T | CA362685172 | DSP | c.3932A>T (p.Gln1311Leu) c.3582+350A>T (n.3582+350A>T) | |
6 | g.7580123G>A | CA448714485 | DSP | c.3933G>A (p.Gln1311=) c.3582+351G>A (n.3582+351G>A) | gnomAD v4 |
6 | g.7580123G>C | CA362685173 | DSP | c.3933G>C (p.Gln1311His) c.3582+351G>C (n.3582+351G>C) | |
6 | g.7580123G>T | CA362685174 | DSP | c.3933G>T (p.Gln1311His) c.3582+351G>T (n.3582+351G>T) | gnomAD v4 |
6 | g.7580124T>A | CA362685177 | DSP | c.3934T>A (p.Ser1312Thr) c.3582+352T>A (n.3582+352T>A) | |
6 | g.7580124T>C | CA362685175 | DSP | c.3934T>C (p.Ser1312Pro) c.3582+352T>C (n.3582+352T>C) | ClinVar |
6 | g.7580124T>G | CA362685176 | DSP | c.3934T>G (p.Ser1312Ala) c.3582+352T>G (n.3582+352T>G) | |
6 | g.7580125C>A | CA362685178 | DSP | c.3935C>A (p.Ser1312Tyr) c.3582+353C>A (n.3582+353C>A) | |
6 | g.7580125C= | CA1608615918 | DSP | c.3935C= (p.Ser1312=) c.3582+353C= (n.3582+353C=) | |
6 | g.7580125C>G | CA362685179 | DSP | c.3935C>G (p.Ser1312Cys) c.3582+353C>G (n.3582+353C>G) | ClinVar dbSNP |
6 | g.7580125C>T | CA362685180 | DSP | c.3935C>T (p.Ser1312Phe) c.3582+353C>T (n.3582+353C>T) | COSMIC |
6 | g.7580126C>A | CA448714488 | DSP | c.3936C>A (p.Ser1312=) c.3582+354C>A (n.3582+354C>A) | |
6 | g.7580126C>G | CA448714489 | DSP | c.3936C>G (p.Ser1312=) c.3582+354C>G (n.3582+354C>G) | |
6 | g.7580126C>T | CA448714490 | DSP | c.3936C>T (p.Ser1312=) c.3582+354C>T (n.3582+354C>T) | |
6 | g.7580127C>A | CA362685181 | DSP | c.3937C>A (p.Leu1313Met) c.3582+355C>A (n.3582+355C>A) | |
6 | g.7580127C>G | CA362685182 | DSP | c.3937C>G (p.Leu1313Val) c.3582+355C>G (n.3582+355C>G) | |
6 | g.7580127C>T | CA448714491 | DSP | c.3937C>T (p.Leu1313=) c.3582+355C>T (n.3582+355C>T) | |
6 | g.7580127_7580128delinsCT | CA1608615930 | DSP | c.3937_3938delinsCT (p.Leu1313=) c.3582+355_3582+356delinsCT (n.3582+355_3582+356delinsCT) | |
6 | g.7580128del | CA1608615938 | DSP | c.3938del (p.Leu1313ArgfsTer?) c.3582+356del (n.3582+356del) | dbSNP |
6 | g.7580128T>A | CA362685183 | DSP | c.3938T>A (p.Leu1313Gln) c.3582+356T>A (n.3582+356T>A) | |
6 | g.7580128T>C | CA362685184 | DSP | c.3938T>C (p.Leu1313Pro) c.3582+356T>C (n.3582+356T>C) | |
6 | g.7580128T>G | CA362685185 | DSP | c.3938T>G (p.Leu1313Arg) c.3582+356T>G (n.3582+356T>G) | |
6 | g.7580129G>A | CA448714492 | DSP | c.3939G>A (p.Leu1313=) c.3582+357G>A (n.3582+357G>A) | |
6 | g.7580129G>C | CA448714494 | DSP | c.3939G>C (p.Leu1313=) c.3582+357G>C (n.3582+357G>C) | |
6 | g.7580129G>T | CA448714495 | DSP | c.3939G>T (p.Leu1313=) c.3582+357G>T (n.3582+357G>T) | |
6 | g.7580130_7580144del | CA2677234294 | DSP | c.3940_3954del (p.Glu1314_Lys1318del) c.3582+358_3582+372del (n.3582+358_3582+372del) | gnomAD v4 |
6 | g.7580130G>A | CA362685186 | DSP | c.3940G>A (p.Glu1314Lys) c.3582+358G>A (n.3582+358G>A) | |
6 | g.7580130G>C | CA362685187 | DSP | c.3940G>C (p.Glu1314Gln) c.3582+358G>C (n.3582+358G>C) | |
6 | g.7580130G>T | CA362685188 | DSP | c.3940G>T (p.Glu1314Ter) c.3582+358G>T (n.3582+358G>T) | |
6 | g.7580131A= | CA1608615943 | DSP | c.3941A= (p.Glu1314=) c.3582+359A= (n.3582+359A=) | |
6 | g.7580131A>C | CA362685189 | DSP | c.3941A>C (p.Glu1314Ala) c.3582+359A>C (n.3582+359A>C) | |
6 | g.7580131A>G | CA362685191 | DSP | c.3941A>G (p.Glu1314Gly) c.3582+359A>G (n.3582+359A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.7580131A>T | CA362685190 | DSP | c.3941A>T (p.Glu1314Val) c.3582+359A>T (n.3582+359A>T) | |
6 | g.7580132G>A | CA448714498 | DSP | c.3942G>A (p.Glu1314=) c.3582+360G>A (n.3582+360G>A) | gnomAD v4 |
6 | g.7580132G>C | CA362685192 | DSP | c.3942G>C (p.Glu1314Asp) c.3582+360G>C (n.3582+360G>C) | |
6 | g.7580132G>T | CA362685193 | DSP | c.3942G>T (p.Glu1314Asp) c.3582+360G>T (n.3582+360G>T) | |
6 | g.7580133G>A | CA362685194 | DSP | c.3943G>A (p.Glu1315Lys) c.3582+361G>A (n.3582+361G>A) | gnomAD v4 |
6 | g.7580133G>C | CA362685195 | DSP | c.3943G>C (p.Glu1315Gln) c.3582+361G>C (n.3582+361G>C) | |
6 | g.7580133G>T | CA362685196 | DSP | c.3943G>T (p.Glu1315Ter) c.3582+361G>T (n.3582+361G>T) | |
6 | g.7580134A>C | CA362685197 | DSP | c.3944A>C (p.Glu1315Ala) c.3582+362A>C (n.3582+362A>C) | |
6 | g.7580134A>G | CA362685198 | DSP | c.3944A>G (p.Glu1315Gly) c.3582+362A>G (n.3582+362A>G) | |
6 | g.7580134A>T | CA362685199 | DSP | c.3944A>T (p.Glu1315Val) c.3582+362A>T (n.3582+362A>T) | |
6 | g.7580135G>A | CA448714499 | DSP | c.3945G>A (p.Glu1315=) c.3582+363G>A (n.3582+363G>A) | ClinVar gnomAD v4 |
6 | g.7580135G>C | CA362685200 | DSP | c.3945G>C (p.Glu1315Asp) c.3582+363G>C (n.3582+363G>C) | |
6 | g.7580135G>T | CA362685201 | DSP | c.3945G>T (p.Glu1315Asp) c.3582+363G>T (n.3582+363G>T) | |
6 | g.7580136G>A | CA362685204 | DSP | c.3946G>A (p.Ala1316Thr) c.3582+364G>A (n.3582+364G>A) | |
6 | g.7580136G>C | CA362685203 | DSP | c.3946G>C (p.Ala1316Pro) c.3582+364G>C (n.3582+364G>C) | |
6 | g.7580136G>T | CA362685202 | DSP | c.3946G>T (p.Ala1316Ser) c.3582+364G>T (n.3582+364G>T) | |
6 | g.7580137C>A | CA362685205 | DSP | c.3947C>A (p.Ala1316Asp) c.3582+365C>A (n.3582+365C>A) | |
6 | g.7580137C= | CA1608615944 | DSP | c.3947C= (p.Ala1316=) c.3582+365C= (n.3582+365C=) | |
6 | g.7580137C>G | CA362685206 | DSP | c.3947C>G (p.Ala1316Gly) c.3582+365C>G (n.3582+365C>G) | ClinVar gnomAD v4 |
6 | g.7580137C>T | CA362685207 | DSP | c.3947C>T (p.Ala1316Val) c.3582+365C>T (n.3582+365C>T) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.7580138del | CA2677234296 | DSP | c.3948del (p.Ala1317ProfsTer?) c.3582+366del (n.3582+366del) | gnomAD v4 |
6 | g.7580138T>A | CA448714503 | DSP | c.3948T>A (p.Ala1316=) c.3582+366T>A (n.3582+366T>A) | |
6 | g.7580138T>C | CA448714502 | DSP | c.3948T>C (p.Ala1316=) c.3582+366T>C (n.3582+366T>C) | ClinVar dbSNP |
6 | g.7580138T>G | CA448714501 | DSP | c.3948T>G (p.Ala1316=) c.3582+366T>G (n.3582+366T>G) | |
6 | g.7580138T= | CA1608615947 | DSP | c.3948T= (p.Ala1316=) c.3582+366T= (n.3582+366T=) | |
6 | g.7580139G>A | CA362685208 | DSP | c.3949G>A (p.Ala1317Thr) c.3582+367G>A (n.3582+367G>A) | |
6 | g.7580139G>C | CA362685209 | DSP | c.3949G>C (p.Ala1317Pro) c.3582+367G>C (n.3582+367G>C) | gnomAD v4 |
6 | g.7580139G>T | CA362685210 | DSP | c.3949G>T (p.Ala1317Ser) c.3582+367G>T (n.3582+367G>T) | |
6 | g.7580140C>A | CA362685211 | DSP | c.3950C>A (p.Ala1317Asp) c.3582+368C>A (n.3582+368C>A) | |
6 | g.7580140C>G | CA362685212 | DSP | c.3950C>G (p.Ala1317Gly) c.3582+368C>G (n.3582+368C>G) | |
6 | g.7580140C>T | CA362685213 | DSP | c.3950C>T (p.Ala1317Val) c.3582+368C>T (n.3582+368C>T) | |
6 | g.7580141C>A | CA448714505 | DSP | c.3951C>A (p.Ala1317=) c.3582+369C>A (n.3582+369C>A) | |
6 | g.7580141C>G | CA448714506 | DSP | c.3951C>G (p.Ala1317=) c.3582+369C>G (n.3582+369C>G) | |
6 | g.7580141C>T | CA448714507 | DSP | c.3951C>T (p.Ala1317=) c.3582+369C>T (n.3582+369C>T) | |
6 | g.7580142A>C | CA362685214 | DSP | c.3952A>C (p.Lys1318Gln) c.3582+370A>C (n.3582+370A>C) | |
6 | g.7580142A>G | CA362685215 | DSP | c.3952A>G (p.Lys1318Glu) c.3582+370A>G (n.3582+370A>G) | gnomAD v4 |
6 | g.7580142A>T | CA362685216 | DSP | c.3952A>T (p.Lys1318Ter) c.3582+370A>T (n.3582+370A>T) | |
6 | g.7580143A= | CA1608615950 | DSP | c.3953A= (p.Lys1318=) c.3582+371A= (n.3582+371A=) | |
6 | g.7580143A>C | CA362685218 | DSP | c.3953A>C (p.Lys1318Thr) c.3582+371A>C (n.3582+371A>C) | |
6 | g.7580143A>G | CA362685219 | DSP | c.3953A>G (p.Lys1318Arg) c.3582+371A>G (n.3582+371A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7580143A>T | CA362685217 | DSP | c.3953A>T (p.Lys1318Met) c.3582+371A>T (n.3582+371A>T) | |
6 | g.7580144G>A | CA133969022 | DSP | c.3954G>A (p.Lys1318=) c.3582+372G>A (n.3582+372G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7580144G>C | CA362685220 | DSP | c.3954G>C (p.Lys1318Asn) c.3582+372G>C (n.3582+372G>C) | |
6 | g.7580144G= | CA1608615952 | DSP | c.3954G= (p.Lys1318=) c.3582+372G= (n.3582+372G=) | |
6 | g.7580144G>T | CA362685221 | DSP | c.3954G>T (p.Lys1318Asn) c.3582+372G>T (n.3582+372G>T) | |
6 | g.7580145A>C | CA362685222 | DSP | c.3955A>C (p.Thr1319Pro) c.3582+373A>C (n.3582+373A>C) | |
6 | g.7580145A>G | CA362685223 | DSP | c.3955A>G (p.Thr1319Ala) c.3582+373A>G (n.3582+373A>G) | |
6 | g.7580145A>T | CA362685224 | DSP | c.3955A>T (p.Thr1319Ser) c.3582+373A>T (n.3582+373A>T) | |
6 | g.7580146C>A | CA362685225 | DSP | c.3956C>A (p.Thr1319Asn) c.3582+374C>A (n.3582+374C>A) | |
6 | g.7580146C= | CA1608615962 | DSP | c.3956C= (p.Thr1319=) c.3582+374C= (n.3582+374C=) | |
6 | g.7580146C>G | CA004299 | DSP | c.3956C>G (p.Thr1319Ser) c.3582+374C>G (n.3582+374C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7580146C>T | CA039644 | DSP | c.3956C>T (p.Thr1319Ile) c.3582+374C>T (n.3582+374C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7580147C>A | CA448714509 | DSP | c.3957C>A (p.Thr1319=) c.3582+375C>A (n.3582+375C>A) | |
6 | g.7580147C>G | CA448714510 | DSP | c.3957C>G (p.Thr1319=) c.3582+375C>G (n.3582+375C>G) | |
6 | g.7580147C>T | CA448714511 | DSP | c.3957C>T (p.Thr1319=) c.3582+375C>T (n.3582+375C>T) | ClinVar dbSNP |
6 | g.7580149_7580152del | CA2580075412 | DSP | c.3959_3962del (p.Ile1320ArgfsTer28) c.3582+377_3582+380del (n.3582+377_3582+380del) | ClinVar |
6 | g.7580148A= | CA1608615966 | DSP | c.3958A= (p.Ile1320=) c.3582+376A= (n.3582+376A=) | |
6 | g.7580148A>C | CA362685226 | DSP | c.3958A>C (p.Ile1320Leu) c.3582+376A>C (n.3582+376A>C) | gnomAD v4 |
6 | g.7580148A>G | CA362685227 | DSP | c.3958A>G (p.Ile1320Val) c.3582+376A>G (n.3582+376A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.7580148A>T | CA362685228 | DSP | c.3958A>T (p.Ile1320Phe) c.3582+376A>T (n.3582+376A>T) | |
6 | g.7580149T>A | CA362685229 | DSP | c.3959T>A (p.Ile1320Asn) c.3582+377T>A (n.3582+377T>A) | |
6 | g.7580149T>C | CA362685230 | DSP | c.3959T>C (p.Ile1320Thr) c.3582+377T>C (n.3582+377T>C) | |
6 | g.7580149T>G | CA362685231 | DSP | c.3959T>G (p.Ile1320Ser) c.3582+377T>G (n.3582+377T>G) | |
6 | g.7580150T>A | CA448714512 | DSP | c.3960T>A (p.Ile1320=) c.3582+378T>A (n.3582+378T>A) | |
6 | g.7580150T>C | CA448714513 | DSP | c.3960T>C (p.Ile1320=) c.3582+378T>C (n.3582+378T>C) | |
6 | g.7580150T>G | CA362685232 | DSP | c.3960T>G (p.Ile1320Met) c.3582+378T>G (n.3582+378T>G) | |
6 | g.7580151C>A | CA362685233 | DSP | c.3961C>A (p.Gln1321Lys) c.3582+379C>A (n.3582+379C>A) | |
6 | g.7580151C= | CA1608615970 | DSP | c.3961C= (p.Gln1321=) c.3582+379C= (n.3582+379C=) | |
6 | g.7580151C>G | CA362685234 | DSP | c.3961C>G (p.Gln1321Glu) c.3582+379C>G (n.3582+379C>G) | |
6 | g.7580151C>T | CA004306 | DSP | c.3961C>T (p.Gln1321Ter) c.3582+379C>T (n.3582+379C>T) | ClinVar dbSNP |
6 | g.7580152A>C | CA362685235 | DSP | c.3962A>C (p.Gln1321Pro) c.3582+380A>C (n.3582+380A>C) | |
6 | g.7580152A>G | CA362685236 | DSP | c.3962A>G (p.Gln1321Arg) c.3582+380A>G (n.3582+380A>G) | ClinVar |
6 | g.7580152A>T | CA362685237 | DSP | c.3962A>T (p.Gln1321Leu) c.3582+380A>T (n.3582+380A>T) | |
6 | g.7580153G>A | CA004313 | DSP | c.3963G>A (p.Gln1321=) c.3582+381G>A (n.3582+381G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7580153G>C | CA133969066 | DSP | c.3963G>C (p.Gln1321His) c.3582+381G>C (n.3582+381G>C) | dbSNP |
6 | g.7580153G= | CA1608615971 | DSP | c.3963G= (p.Gln1321=) c.3582+381G= (n.3582+381G=) | |
6 | g.7580153G>T | CA362685238 | DSP | c.3963G>T (p.Gln1321His) c.3582+381G>T (n.3582+381G>T) |