Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.31817041A>C | CA363416796 | HSPA1A,HSPA1L | c.1285A>C (p.Thr429Pro) c.790A>C (p.Thr264Pro) c.-14+3972T>G (n.-14+3972T>G) | |
6 | g.31817041A>G | CA363416797 | HSPA1A,HSPA1L | c.1285A>G (p.Thr429Ala) c.790A>G (p.Thr264Ala) c.-14+3972T>C (n.-14+3972T>C) | gnomAD v4 |
6 | g.31817041A>T | CA363416798 | HSPA1A,HSPA1L | c.1285A>T (p.Thr429Ser) c.790A>T (p.Thr264Ser) c.-14+3972T>A (n.-14+3972T>A) | |
6 | g.31817042C>A | CA363416816 | HSPA1A,HSPA1L | c.1286C>A (p.Thr429Asn) c.791C>A (p.Thr264Asn) c.-14+3971G>T (n.-14+3971G>T) | |
6 | g.31817042C>G | CA363416821 | HSPA1A,HSPA1L | c.1286C>G (p.Thr429Ser) c.791C>G (p.Thr264Ser) c.-14+3971G>C (n.-14+3971G>C) | |
6 | g.31817042C>T | CA363416805 | HSPA1A,HSPA1L | c.1286C>T (p.Thr429Ile) c.791C>T (p.Thr264Ile) c.-14+3971G>A (n.-14+3971G>A) | gnomAD v4 |
6 | g.31817043C>A | CA449806296 | HSPA1A,HSPA1L | c.1287C>A (p.Thr429=) c.792C>A (p.Thr264=) c.-14+3970G>T (n.-14+3970G>T) | |
6 | g.31817043C>G | CA449806298 | HSPA1A,HSPA1L | c.1287C>G (p.Thr429=) c.792C>G (p.Thr264=) c.-14+3970G>C (n.-14+3970G>C) | |
6 | g.31817043C>T | CA449806300 | HSPA1A,HSPA1L | c.1287C>T (p.Thr429=) c.792C>T (p.Thr264=) c.-14+3970G>A (n.-14+3970G>A) | |
6 | g.31817044A>C | CA363416824 | HSPA1A,HSPA1L | c.1288A>C (p.Thr430Pro) c.793A>C (p.Thr265Pro) c.-14+3969T>G (n.-14+3969T>G) | |
6 | g.31817044A>G | CA363416825 | HSPA1A,HSPA1L | c.1288A>G (p.Thr430Ala) c.793A>G (p.Thr265Ala) c.-14+3969T>C (n.-14+3969T>C) | |
6 | g.31817044A>T | CA363416839 | HSPA1A,HSPA1L | c.1288A>T (p.Thr430Ser) c.793A>T (p.Thr265Ser) c.-14+3969T>A (n.-14+3969T>A) | |
6 | g.31817045C>A | CA363416845 | HSPA1A,HSPA1L | c.1289C>A (p.Thr430Asn) c.794C>A (p.Thr265Asn) c.-14+3968G>T (n.-14+3968G>T) | |
6 | g.31817045C>G | CA363416847 | HSPA1A,HSPA1L | c.1289C>G (p.Thr430Ser) c.794C>G (p.Thr265Ser) c.-14+3968G>C (n.-14+3968G>C) | |
6 | g.31817045C>T | CA363416853 | HSPA1A,HSPA1L | c.1289C>T (p.Thr430Ile) c.794C>T (p.Thr265Ile) c.-14+3968G>A (n.-14+3968G>A) | |
6 | g.31817046C>A | CA449806311 | HSPA1A,HSPA1L | c.1290C>A (p.Thr430=) c.795C>A (p.Thr265=) c.-14+3967G>T (n.-14+3967G>T) | |
6 | g.31817046C>G | CA449806313 | HSPA1A,HSPA1L | c.1290C>G (p.Thr430=) c.795C>G (p.Thr265=) c.-14+3967G>C (n.-14+3967G>C) | |
6 | g.31817046C>T | CA449806312 | HSPA1A,HSPA1L | c.1290C>T (p.Thr430=) c.795C>T (p.Thr265=) c.-14+3967G>A (n.-14+3967G>A) | |
6 | g.31817047T>A | CA363416860 | HSPA1A,HSPA1L | c.1291T>A (p.Tyr431Asn) c.796T>A (p.Tyr266Asn) c.-14+3966A>T (n.-14+3966A>T) | |
6 | g.31817047T>C | CA363416861 | HSPA1A,HSPA1L | c.1291T>C (p.Tyr431His) c.796T>C (p.Tyr266His) c.-14+3966A>G (n.-14+3966A>G) | |
6 | g.31817047T>G | CA363416862 | HSPA1A,HSPA1L | c.1291T>G (p.Tyr431Asp) c.796T>G (p.Tyr266Asp) c.-14+3966A>C (n.-14+3966A>C) | |
6 | g.31817048A>C | CA363416864 | HSPA1A,HSPA1L | c.1292A>C (p.Tyr431Ser) c.797A>C (p.Tyr266Ser) c.-14+3965T>G (n.-14+3965T>G) | |
6 | g.31817048A>G | CA363416866 | HSPA1A,HSPA1L | c.1292A>G (p.Tyr431Cys) c.797A>G (p.Tyr266Cys) c.-14+3965T>C (n.-14+3965T>C) | |
6 | g.31817048A>T | CA363416868 | HSPA1A,HSPA1L | c.1292A>T (p.Tyr431Phe) c.797A>T (p.Tyr266Phe) c.-14+3965T>A (n.-14+3965T>A) | |
6 | g.31817049C>A | CA363416881 | HSPA1A,HSPA1L | c.1293C>A (p.Tyr431Ter) c.798C>A (p.Tyr266Ter) c.-14+3964G>T (n.-14+3964G>T) | gnomAD v4 |
6 | g.31817049C>G | CA363416874 | HSPA1A,HSPA1L | c.1293C>G (p.Tyr431Ter) c.798C>G (p.Tyr266Ter) c.-14+3964G>C (n.-14+3964G>C) | |
6 | g.31817049C>T | CA449806320 | HSPA1A,HSPA1L | c.1293C>T (p.Tyr431=) c.798C>T (p.Tyr266=) c.-14+3964G>A (n.-14+3964G>A) | |
6 | g.31817050T>A | CA363416894 | HSPA1A,HSPA1L | c.1294T>A (p.Ser432Thr) c.799T>A (p.Ser267Thr) c.-14+3963A>T (n.-14+3963A>T) | |
6 | g.31817050T>C | CA363416913 | HSPA1A,HSPA1L | c.1294T>C (p.Ser432Pro) c.799T>C (p.Ser267Pro) c.-14+3963A>G (n.-14+3963A>G) | |
6 | g.31817050T>G | CA363416918 | HSPA1A,HSPA1L | c.1294T>G (p.Ser432Ala) c.799T>G (p.Ser267Ala) c.-14+3963A>C (n.-14+3963A>C) | |
6 | g.31817051C>A | CA363416945 | HSPA1A,HSPA1L | c.1295C>A (p.Ser432Tyr) c.800C>A (p.Ser267Tyr) c.-14+3962G>T (n.-14+3962G>T) | |
6 | g.31817051C>G | CA363416956 | HSPA1A,HSPA1L | c.1295C>G (p.Ser432Cys) c.800C>G (p.Ser267Cys) c.-14+3962G>C (n.-14+3962G>C) | |
6 | g.31817051C>T | CA363416959 | HSPA1A,HSPA1L | c.1295C>T (p.Ser432Phe) c.800C>T (p.Ser267Phe) c.-14+3962G>A (n.-14+3962G>A) | |
6 | g.31817052dup | CA2711458853 | HSPA1A,HSPA1L | c.1296dup (p.Asp433ArgfsTer?) c.801dup (p.Asp268ArgfsTer?) c.-14+3962dup (n.-14+3962dup) | dbSNP |
6 | g.31817052C>A | CA449806326 | HSPA1A,HSPA1L | c.1296C>A (p.Ser432=) c.801C>A (p.Ser267=) c.-14+3961G>T (n.-14+3961G>T) | |
6 | g.31817052C>G | CA449806328 | HSPA1A,HSPA1L | c.1296C>G (p.Ser432=) c.801C>G (p.Ser267=) c.-14+3961G>C (n.-14+3961G>C) | |
6 | g.31817052C>T | CA449806330 | HSPA1A,HSPA1L | c.1296C>T (p.Ser432=) c.801C>T (p.Ser267=) c.-14+3961G>A (n.-14+3961G>A) | gnomAD v4 |
6 | g.31817053G>A | CA363416964 | HSPA1A,HSPA1L | c.1297G>A (p.Asp433Asn) c.802G>A (p.Asp268Asn) c.-14+3960C>T (n.-14+3960C>T) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.31817053G>C | CA363416981 | HSPA1A,HSPA1L | c.1297G>C (p.Asp433His) c.802G>C (p.Asp268His) c.-14+3960C>G (n.-14+3960C>G) | |
6 | g.31817053G= | CA1619307566 | HSPA1A,HSPA1L | c.1297G= (p.Asp433=) c.802G= (p.Asp268=) c.-14+3960C= (n.-14+3960C=) | |
6 | g.31817053G>T | CA363416986 | HSPA1A,HSPA1L | c.1297G>T (p.Asp433Tyr) c.802G>T (p.Asp268Tyr) c.-14+3960C>A (n.-14+3960C>A) | |
6 | g.31817054A>C | CA363416996 | HSPA1A,HSPA1L | c.1298A>C (p.Asp433Ala) c.803A>C (p.Asp268Ala) c.-14+3959T>G (n.-14+3959T>G) | |
6 | g.31817054A>G | CA363417002 | HSPA1A,HSPA1L | c.1298A>G (p.Asp433Gly) c.803A>G (p.Asp268Gly) c.-14+3959T>C (n.-14+3959T>C) | gnomAD v4 |
6 | g.31817054A>T | CA363417012 | HSPA1A,HSPA1L | c.1298A>T (p.Asp433Val) c.803A>T (p.Asp268Val) c.-14+3959T>A (n.-14+3959T>A) | |
6 | g.31817055C>A | CA363417018 | HSPA1A,HSPA1L | c.1299C>A (p.Asp433Glu) c.804C>A (p.Asp268Glu) c.-14+3958G>T (n.-14+3958G>T) | |
6 | g.31817055C>G | CA363417019 | HSPA1A,HSPA1L | c.1299C>G (p.Asp433Glu) c.804C>G (p.Asp268Glu) c.-14+3958G>C (n.-14+3958G>C) | |
6 | g.31817055C>T | CA449806333 | HSPA1A,HSPA1L | c.1299C>T (p.Asp433=) c.804C>T (p.Asp268=) c.-14+3958G>A (n.-14+3958G>A) | |
6 | g.31817056A>C | CA363417022 | HSPA1A,HSPA1L | c.1300A>C (p.Asn434His) c.805A>C (p.Asn269His) c.-14+3957T>G (n.-14+3957T>G) | |
6 | g.31817056A>G | CA363417030 | HSPA1A,HSPA1L | c.1300A>G (p.Asn434Asp) c.805A>G (p.Asn269Asp) c.-14+3957T>C (n.-14+3957T>C) | |
6 | g.31817056A>T | CA363417021 | HSPA1A,HSPA1L | c.1300A>T (p.Asn434Tyr) c.805A>T (p.Asn269Tyr) c.-14+3957T>A (n.-14+3957T>A) | |
6 | g.31817057A= | CA1619307567 | HSPA1A,HSPA1L | c.1301A= (p.Asn434=) c.806A= (p.Asn269=) c.-14+3956T= (n.-14+3956T=) | |
6 | g.31817057A>C | CA363417038 | HSPA1A,HSPA1L | c.1301A>C (p.Asn434Thr) c.806A>C (p.Asn269Thr) c.-14+3956T>G (n.-14+3956T>G) | |
6 | g.31817057A>G | CA363417033 | HSPA1A,HSPA1L | c.1301A>G (p.Asn434Ser) c.806A>G (p.Asn269Ser) c.-14+3956T>C (n.-14+3956T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.31817057A>T | CA363417035 | HSPA1A,HSPA1L | c.1301A>T (p.Asn434Ile) c.806A>T (p.Asn269Ile) c.-14+3956T>A (n.-14+3956T>A) | |
6 | g.31817058C>A | CA363417042 | HSPA1A,HSPA1L | c.1302C>A (p.Asn434Lys) c.807C>A (p.Asn269Lys) c.-14+3955G>T (n.-14+3955G>T) | |
6 | g.31817058C>G | CA363417048 | HSPA1A,HSPA1L | c.1302C>G (p.Asn434Lys) c.807C>G (p.Asn269Lys) c.-14+3955G>C (n.-14+3955G>C) | gnomAD v4 |
6 | g.31817058C>T | CA449806339 | HSPA1A,HSPA1L | c.1302C>T (p.Asn434=) c.807C>T (p.Asn269=) c.-14+3955G>A (n.-14+3955G>A) | |
6 | g.31817059dup | CA823903352 | HSPA1A,HSPA1L | c.1303dup (p.Gln435ProfsTer?) c.808dup (p.Gln270ProfsTer?) c.-14+3955dup (n.-14+3955dup) | dbSNP |
6 | g.31817059C>A | CA363417061 | HSPA1A,HSPA1L | c.1303C>A (p.Gln435Lys) c.808C>A (p.Gln270Lys) c.-14+3954G>T (n.-14+3954G>T) | |
6 | g.31817059C= | CA1619307568 | HSPA1A,HSPA1L | c.1303C= (p.Gln435=) c.808C= (p.Gln270=) c.-14+3954G= (n.-14+3954G=) | |
6 | g.31817059C>G | CA363417069 | HSPA1A,HSPA1L | c.1303C>G (p.Gln435Glu) c.808C>G (p.Gln270Glu) c.-14+3954G>C (n.-14+3954G>C) | |
6 | g.31817059C>T | CA363417080 | HSPA1A,HSPA1L | c.1303C>T (p.Gln435Ter) c.808C>T (p.Gln270Ter) c.-14+3954G>A (n.-14+3954G>A) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.31817060A>C | CA363417091 | HSPA1A,HSPA1L | c.1304A>C (p.Gln435Pro) c.809A>C (p.Gln270Pro) c.-14+3953T>G (n.-14+3953T>G) | |
6 | g.31817060A>G | CA363417097 | HSPA1A,HSPA1L | c.1304A>G (p.Gln435Arg) c.809A>G (p.Gln270Arg) c.-14+3953T>C (n.-14+3953T>C) | |
6 | g.31817060A>T | CA363417101 | HSPA1A,HSPA1L | c.1304A>T (p.Gln435Leu) c.809A>T (p.Gln270Leu) c.-14+3953T>A (n.-14+3953T>A) | |
6 | g.31817061A>C | CA363417102 | HSPA1A,HSPA1L | c.1305A>C (p.Gln435His) c.810A>C (p.Gln270His) c.-14+3952T>G (n.-14+3952T>G) | |
6 | g.31817061A>G | CA449806341 | HSPA1A,HSPA1L | c.1305A>G (p.Gln435=) c.810A>G (p.Gln270=) c.-14+3952T>C (n.-14+3952T>C) | gnomAD v4 |
6 | g.31817061A>T | CA363417103 | HSPA1A,HSPA1L | c.1305A>T (p.Gln435His) c.810A>T (p.Gln270His) c.-14+3952T>A (n.-14+3952T>A) | |
6 | g.31817062C>A | CA363417125 | HSPA1A,HSPA1L | c.1306C>A (p.Pro436Thr) c.811C>A (p.Pro271Thr) c.-14+3951G>T (n.-14+3951G>T) | |
6 | g.31817062C= | CA1619307569 | HSPA1A,HSPA1L | c.1306C= (p.Pro436=) c.811C= (p.Pro271=) c.-14+3951G= (n.-14+3951G=) | |
6 | g.31817062C>G | CA363417105 | HSPA1A,HSPA1L | c.1306C>G (p.Pro436Ala) c.811C>G (p.Pro271Ala) c.-14+3951G>C (n.-14+3951G>C) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.31817062C>T | CA363417119 | HSPA1A,HSPA1L | c.1306C>T (p.Pro436Ser) c.811C>T (p.Pro271Ser) c.-14+3951G>A (n.-14+3951G>A) | |
6 | g.31817064del | CA2678045104 | HSPA1A,HSPA1L | c.1308del (p.Val438CysfsTer2) c.813del (p.Val273CysfsTer2) c.-14+3951del (n.-14+3951del) | gnomAD v4 |
6 | g.31817063C>A | CA363417128 | HSPA1A,HSPA1L | c.1307C>A (p.Pro436His) c.812C>A (p.Pro271His) c.-14+3950G>T (n.-14+3950G>T) | |
6 | g.31817063C>G | CA363417130 | HSPA1A,HSPA1L | c.1307C>G (p.Pro436Arg) c.812C>G (p.Pro271Arg) c.-14+3950G>C (n.-14+3950G>C) | |
6 | g.31817063C>T | CA363417132 | HSPA1A,HSPA1L | c.1307C>T (p.Pro436Leu) c.812C>T (p.Pro271Leu) c.-14+3950G>A (n.-14+3950G>A) | |
6 | g.31817064C>A | CA449806347 | HSPA1A,HSPA1L | c.1308C>A (p.Pro436=) c.813C>A (p.Pro271=) c.-14+3949G>T (n.-14+3949G>T) | |
6 | g.31817064C>G | CA449806350 | HSPA1A,HSPA1L | c.1308C>G (p.Pro436=) c.813C>G (p.Pro271=) c.-14+3949G>C (n.-14+3949G>C) | |
6 | g.31817064C>T | CA449806349 | HSPA1A,HSPA1L | c.1308C>T (p.Pro436=) c.813C>T (p.Pro271=) c.-14+3949G>A (n.-14+3949G>A) | |
6 | g.31817065G>A | CA363417135 | HSPA1A,HSPA1L | c.1309G>A (p.Gly437Arg) c.814G>A (p.Gly272Arg) c.-14+3948C>T (n.-14+3948C>T) | gnomAD v4 |
6 | g.31817065G>C | CA363417138 | HSPA1A,HSPA1L | c.1309G>C (p.Gly437Arg) c.814G>C (p.Gly272Arg) c.-14+3948C>G (n.-14+3948C>G) | |
6 | g.31817065G>T | CA363417143 | HSPA1A,HSPA1L | c.1309G>T (p.Gly437Trp) c.814G>T (p.Gly272Trp) c.-14+3948C>A (n.-14+3948C>A) | |
6 | g.31817066G>A | CA363417146 | HSPA1A,HSPA1L | c.1310G>A (p.Gly437Glu) c.815G>A (p.Gly272Glu) c.-14+3947C>T (n.-14+3947C>T) | dbSNP gnomAD v4 |
6 | g.31817066G>C | CA363417150 | HSPA1A,HSPA1L | c.1310G>C (p.Gly437Ala) c.815G>C (p.Gly272Ala) c.-14+3947C>G (n.-14+3947C>G) | |
6 | g.31817066G= | CA1619307570 | HSPA1A,HSPA1L | c.1310G= (p.Gly437=) c.815G= (p.Gly272=) c.-14+3947C= (n.-14+3947C=) | |
6 | g.31817066G>T | CA363417155 | HSPA1A,HSPA1L | c.1310G>T (p.Gly437Val) c.815G>T (p.Gly272Val) c.-14+3947C>A (n.-14+3947C>A) | |
6 | g.31817067G>A | CA449806353 | HSPA1A,HSPA1L | c.1311G>A (p.Gly437=) c.816G>A (p.Gly272=) c.-14+3946C>T (n.-14+3946C>T) | |
6 | g.31817067G>C | CA449806354 | HSPA1A,HSPA1L | c.1311G>C (p.Gly437=) c.816G>C (p.Gly272=) c.-14+3946C>G (n.-14+3946C>G) | |
6 | g.31817067G>T | CA449806355 | HSPA1A,HSPA1L | c.1311G>T (p.Gly437=) c.816G>T (p.Gly272=) c.-14+3946C>A (n.-14+3946C>A) | |
6 | g.31817068G>A | CA363417159 | HSPA1A,HSPA1L | c.1312G>A (p.Val438Met) c.817G>A (p.Val273Met) c.-14+3945C>T (n.-14+3945C>T) | |
6 | g.31817068G>C | CA363417160 | HSPA1A,HSPA1L | c.1312G>C (p.Val438Leu) c.817G>C (p.Val273Leu) c.-14+3945C>G (n.-14+3945C>G) | |
6 | g.31817068G>T | CA363417161 | HSPA1A,HSPA1L | c.1312G>T (p.Val438Leu) c.817G>T (p.Val273Leu) c.-14+3945C>A (n.-14+3945C>A) | |
6 | g.31817069T>A | CA363417183 | HSPA1A,HSPA1L | c.1313T>A (p.Val438Glu) c.818T>A (p.Val273Glu) c.-14+3944A>T (n.-14+3944A>T) | |
6 | g.31817069T>C | CA363417187 | HSPA1A,HSPA1L | c.1313T>C (p.Val438Ala) c.818T>C (p.Val273Ala) c.-14+3944A>G (n.-14+3944A>G) | |
6 | g.31817069T>G | CA363417171 | HSPA1A,HSPA1L | c.1313T>G (p.Val438Gly) c.818T>G (p.Val273Gly) c.-14+3944A>C (n.-14+3944A>C) | |
6 | g.31817070G>A | CA449806359 | HSPA1A,HSPA1L | c.1314G>A (p.Val438=) c.819G>A (p.Val273=) c.-14+3943C>T (n.-14+3943C>T) | |
6 | g.31817070G>C | CA449806360 | HSPA1A,HSPA1L | c.1314G>C (p.Val438=) c.819G>C (p.Val273=) c.-14+3943C>G (n.-14+3943C>G) | |
6 | g.31817070G>T | CA449806361 | HSPA1A,HSPA1L | c.1314G>T (p.Val438=) c.819G>T (p.Val273=) c.-14+3943C>A (n.-14+3943C>A) | |
6 | g.31817071del | CA2578570476 | HSPA1A,HSPA1L | c.1315del (p.Leu439Ter) c.820del (p.Leu274Ter) c.-14+3942del (n.-14+3942del) | |
6 | g.31817071C>A | CA363417193 | HSPA1A,HSPA1L | c.1315C>A (p.Leu439Met) c.820C>A (p.Leu274Met) c.-14+3942G>T (n.-14+3942G>T) | |
6 | g.31817071C= | CA1619307571 | HSPA1A,HSPA1L | c.1315C= (p.Leu439=) c.820C= (p.Leu274=) c.-14+3942G= (n.-14+3942G=) | |
6 | g.31817071C>G | CA363417196 | HSPA1A,HSPA1L | c.1315C>G (p.Leu439Val) c.820C>G (p.Leu274Val) c.-14+3942G>C (n.-14+3942G>C) | |
6 | g.31817071C>T | CA449806362 | HSPA1A,HSPA1L | c.1315C>T (p.Leu439=) c.820C>T (p.Leu274=) c.-14+3942G>A (n.-14+3942G>A) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.31817072T>A | CA363417198 | HSPA1A,HSPA1L | c.1316T>A (p.Leu439Gln) c.821T>A (p.Leu274Gln) c.-14+3941A>T (n.-14+3941A>T) | |
6 | g.31817072T>C | CA363417209 | HSPA1A,HSPA1L | c.1316T>C (p.Leu439Pro) c.821T>C (p.Leu274Pro) c.-14+3941A>G (n.-14+3941A>G) | |
6 | g.31817072T>G | CA363417220 | HSPA1A,HSPA1L | c.1316T>G (p.Leu439Arg) c.821T>G (p.Leu274Arg) c.-14+3941A>C (n.-14+3941A>C) | |
6 | g.31817073G>A | CA449806364 | HSPA1A,HSPA1L | c.1317G>A (p.Leu439=) c.822G>A (p.Leu274=) c.-14+3940C>T (n.-14+3940C>T) | |
6 | g.31817073G>C | CA449806365 | HSPA1A,HSPA1L | c.1317G>C (p.Leu439=) c.822G>C (p.Leu274=) c.-14+3940C>G (n.-14+3940C>G) | |
6 | g.31817073G>T | CA449806366 | HSPA1A,HSPA1L | c.1317G>T (p.Leu439=) c.822G>T (p.Leu274=) c.-14+3940C>A (n.-14+3940C>A) | |
6 | g.31817074A>C | CA363417228 | HSPA1A,HSPA1L | c.1318A>C (p.Ile440Leu) c.823A>C (p.Ile275Leu) c.-14+3939T>G (n.-14+3939T>G) | |
6 | g.31817074A>G | CA363417233 | HSPA1A,HSPA1L | c.1318A>G (p.Ile440Val) c.823A>G (p.Ile275Val) c.-14+3939T>C (n.-14+3939T>C) | |
6 | g.31817074A>T | CA363417238 | HSPA1A,HSPA1L | c.1318A>T (p.Ile440Phe) c.823A>T (p.Ile275Phe) c.-14+3939T>A (n.-14+3939T>A) | |
6 | g.31817075T>A | CA363417252 | HSPA1A,HSPA1L | c.1319T>A (p.Ile440Asn) c.824T>A (p.Ile275Asn) c.-14+3938A>T (n.-14+3938A>T) | |
6 | g.31817075T>C | CA363417256 | HSPA1A,HSPA1L | c.1319T>C (p.Ile440Thr) c.824T>C (p.Ile275Thr) c.-14+3938A>G (n.-14+3938A>G) | |
6 | g.31817075T>G | CA363417276 | HSPA1A,HSPA1L | c.1319T>G (p.Ile440Ser) c.824T>G (p.Ile275Ser) c.-14+3938A>C (n.-14+3938A>C) | |
6 | g.31817076C>A | CA449806368 | HSPA1A,HSPA1L | c.1320C>A (p.Ile440=) c.825C>A (p.Ile275=) c.-14+3937G>T (n.-14+3937G>T) | |
6 | g.31817076C>G | CA363417280 | HSPA1A,HSPA1L | c.1320C>G (p.Ile440Met) c.825C>G (p.Ile275Met) c.-14+3937G>C (n.-14+3937G>C) | |
6 | g.31817076C>T | CA449806369 | HSPA1A,HSPA1L | c.1320C>T (p.Ile440=) c.825C>T (p.Ile275=) c.-14+3937G>A (n.-14+3937G>A) | |
6 | g.31817077del | CA2678045132 | HSPA1A,HSPA1L | c.1321del (p.Gln441ArgfsTer9) c.826del (p.Gln276ArgfsTer9) c.-14+3937del (n.-14+3937del) | gnomAD v4 |
6 | g.31817077C>A | CA363417307 | HSPA1A,HSPA1L | c.1321C>A (p.Gln441Lys) c.826C>A (p.Gln276Lys) c.-14+3936G>T (n.-14+3936G>T) | |
6 | g.31817077C= | CA1619307572 | HSPA1A,HSPA1L | c.1321C= (p.Gln441=) c.826C= (p.Gln276=) c.-14+3936G= (n.-14+3936G=) | |
6 | g.31817077C>G | CA363417312 | HSPA1A,HSPA1L | c.1321C>G (p.Gln441Glu) c.826C>G (p.Gln276Glu) c.-14+3936G>C (n.-14+3936G>C) | |
6 | g.31817077C>T | CA363417304 | HSPA1A,HSPA1L | c.1321C>T (p.Gln441Ter) c.826C>T (p.Gln276Ter) c.-14+3936G>A (n.-14+3936G>A) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.31817078A>C | CA363417319 | HSPA1A,HSPA1L | c.1322A>C (p.Gln441Pro) c.827A>C (p.Gln276Pro) c.-14+3935T>G (n.-14+3935T>G) | |
6 | g.31817078A>G | CA363417322 | HSPA1A,HSPA1L | c.1322A>G (p.Gln441Arg) c.827A>G (p.Gln276Arg) c.-14+3935T>C (n.-14+3935T>C) | |
6 | g.31817078A>T | CA363417323 | HSPA1A,HSPA1L | c.1322A>T (p.Gln441Leu) c.827A>T (p.Gln276Leu) c.-14+3935T>A (n.-14+3935T>A) | |
6 | g.31817079G>A | CA449806373 | HSPA1A,HSPA1L | c.1323G>A (p.Gln441=) c.828G>A (p.Gln276=) c.-14+3934C>T (n.-14+3934C>T) | |
6 | g.31817079G>C | CA363417324 | HSPA1A,HSPA1L | c.1323G>C (p.Gln441His) c.828G>C (p.Gln276His) c.-14+3934C>G (n.-14+3934C>G) | gnomAD v4 |
6 | g.31817079G>T | CA363417325 | HSPA1A,HSPA1L | c.1323G>T (p.Gln441His) c.828G>T (p.Gln276His) c.-14+3934C>A (n.-14+3934C>A) | |
6 | g.31817080G>A | CA363417336 | HSPA1A,HSPA1L | c.1324G>A (p.Val442Met) c.829G>A (p.Val277Met) c.-14+3933C>T (n.-14+3933C>T) | |
6 | g.31817080G>C | CA363417334 | HSPA1A,HSPA1L | c.1324G>C (p.Val442Leu) c.829G>C (p.Val277Leu) c.-14+3933C>G (n.-14+3933C>G) | |
6 | g.31817080G>T | CA363417332 | HSPA1A,HSPA1L | c.1324G>T (p.Val442Leu) c.829G>T (p.Val277Leu) c.-14+3933C>A (n.-14+3933C>A) | |
6 | g.31817081T>A | CA363417344 | HSPA1A,HSPA1L | c.1325T>A (p.Val442Glu) c.830T>A (p.Val277Glu) c.-14+3932A>T (n.-14+3932A>T) | |
6 | g.31817081T>C | CA363417348 | HSPA1A,HSPA1L | c.1325T>C (p.Val442Ala) c.830T>C (p.Val277Ala) c.-14+3932A>G (n.-14+3932A>G) | |
6 | g.31817081T>G | CA363417351 | HSPA1A,HSPA1L | c.1325T>G (p.Val442Gly) c.830T>G (p.Val277Gly) c.-14+3932A>C (n.-14+3932A>C) | gnomAD v3 gnomAD v4 |
6 | g.31817082G>A | CA449806376 | HSPA1A,HSPA1L | c.1326G>A (p.Val442=) c.831G>A (p.Val277=) c.-14+3931C>T (n.-14+3931C>T) | |
6 | g.31817082G>C | CA449806377 | HSPA1A,HSPA1L | c.1326G>C (p.Val442=) c.831G>C (p.Val277=) c.-14+3931C>G (n.-14+3931C>G) | gnomAD v4 |
6 | g.31817082G= | CA1619307573 | HSPA1A,HSPA1L | c.1326G= (p.Val442=) c.831G= (p.Val277=) c.-14+3931C= (n.-14+3931C=) | |
6 | g.31817082G>T | CA449806378 | HSPA1A,HSPA1L | c.1326G>T (p.Val442=) c.831G>T (p.Val277=) c.-14+3931C>A (n.-14+3931C>A) | dbSNP |
6 | g.31817083T>A | CA363417355 | HSPA1A,HSPA1L | c.1327T>A (p.Tyr443Asn) c.832T>A (p.Tyr278Asn) c.-14+3930A>T (n.-14+3930A>T) | |
6 | g.31817083T>C | CA363417359 | HSPA1A,HSPA1L | c.1327T>C (p.Tyr443His) c.832T>C (p.Tyr278His) c.-14+3930A>G (n.-14+3930A>G) | |
6 | g.31817083T>G | CA363417362 | HSPA1A,HSPA1L | c.1327T>G (p.Tyr443Asp) c.832T>G (p.Tyr278Asp) c.-14+3930A>C (n.-14+3930A>C) | |
6 | g.31817084A>C | CA363417371 | HSPA1A,HSPA1L | c.1328A>C (p.Tyr443Ser) c.833A>C (p.Tyr278Ser) c.-14+3929T>G (n.-14+3929T>G) | |
6 | g.31817084A>G | CA363417363 | HSPA1A,HSPA1L | c.1328A>G (p.Tyr443Cys) c.833A>G (p.Tyr278Cys) c.-14+3929T>C (n.-14+3929T>C) | |
6 | g.31817084A>T | CA363417367 | HSPA1A,HSPA1L | c.1328A>T (p.Tyr443Phe) c.833A>T (p.Tyr278Phe) c.-14+3929T>A (n.-14+3929T>A) | |
6 | g.31817085C>A | CA363417375 | HSPA1A,HSPA1L | c.1329C>A (p.Tyr443Ter) c.834C>A (p.Tyr278Ter) c.-14+3928G>T (n.-14+3928G>T) | |
6 | g.31817085C= | CA1619307574 | HSPA1A,HSPA1L | c.1329C= (p.Tyr443=) c.834C= (p.Tyr278=) c.-14+3928G= (n.-14+3928G=) | |
6 | g.31817085C>G | CA363417379 | HSPA1A,HSPA1L | c.1329C>G (p.Tyr443Ter) c.834C>G (p.Tyr278Ter) c.-14+3928G>C (n.-14+3928G>C) | gnomAD v4 |
6 | g.31817085C>T | CA449806380 | HSPA1A,HSPA1L | c.1329C>T (p.Tyr443=) c.834C>T (p.Tyr278=) c.-14+3928G>A (n.-14+3928G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.31817085_31817093delinsCGAGGGCGA | CA1619307575 | HSPA1A,HSPA1L | c.1329_1337delinsCGAGGGCGA (p.Tyr443=) c.834_842delinsCGAGGGCGA (p.Tyr278=) c.-14+3920_-14+3928delinsTCGCCCTCG (n.-14+3920_-14+3928delinsTCGCCCTCG) | |
6 | g.31817086G>A | CA363417383 | HSPA1A,HSPA1L | c.1330G>A (p.Glu444Lys) c.835G>A (p.Glu279Lys) c.-14+3927C>T (n.-14+3927C>T) | gnomAD v4 |
6 | g.31817086G>C | CA363417385 | HSPA1A,HSPA1L | c.1330G>C (p.Glu444Gln) c.835G>C (p.Glu279Gln) c.-14+3927C>G (n.-14+3927C>G) | |
6 | g.31817086G>T | CA363417384 | HSPA1A,HSPA1L | c.1330G>T (p.Glu444Ter) c.835G>T (p.Glu279Ter) c.-14+3927C>A (n.-14+3927C>A) | |
6 | g.31817092_31817099del | CA823903408 | HSPA1A,HSPA1L | c.1336_1343del (p.Glu446HisfsTer?) c.841_848del (p.Glu281HisfsTer?) c.-14+3920_-14+3927del (n.-14+3920_-14+3927del) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.31817087A>C | CA363417388 | HSPA1A,HSPA1L | c.1331A>C (p.Glu444Ala) c.836A>C (p.Glu279Ala) c.-14+3926T>G (n.-14+3926T>G) | |
6 | g.31817087A>G | CA363417397 | HSPA1A,HSPA1L | c.1331A>G (p.Glu444Gly) c.836A>G (p.Glu279Gly) c.-14+3926T>C (n.-14+3926T>C) | |
6 | g.31817087A>T | CA363417392 | HSPA1A,HSPA1L | c.1331A>T (p.Glu444Val) c.836A>T (p.Glu279Val) c.-14+3926T>A (n.-14+3926T>A) | gnomAD v4 |
6 | g.31817088G>A | CA449806382 | HSPA1A,HSPA1L | c.1332G>A (p.Glu444=) c.837G>A (p.Glu279=) c.-14+3925C>T (n.-14+3925C>T) | |
6 | g.31817088G>C | CA363417399 | HSPA1A,HSPA1L | c.1332G>C (p.Glu444Asp) c.837G>C (p.Glu279Asp) c.-14+3925C>G (n.-14+3925C>G) | |
6 | g.31817088G>T | CA363417401 | HSPA1A,HSPA1L | c.1332G>T (p.Glu444Asp) c.837G>T (p.Glu279Asp) c.-14+3925C>A (n.-14+3925C>A) | gnomAD v4 |
6 | g.31817089G>A | CA363417407 | HSPA1A,HSPA1L | c.1333G>A (p.Gly445Ser) c.838G>A (p.Gly280Ser) c.-14+3924C>T (n.-14+3924C>T) | |
6 | g.31817089G>C | CA363417411 | HSPA1A,HSPA1L | c.1333G>C (p.Gly445Arg) c.838G>C (p.Gly280Arg) c.-14+3924C>G (n.-14+3924C>G) | |
6 | g.31817089G>T | CA363417415 | HSPA1A,HSPA1L | c.1333G>T (p.Gly445Cys) c.838G>T (p.Gly280Cys) c.-14+3924C>A (n.-14+3924C>A) | |
6 | g.31817090G>A | CA363417421 | HSPA1A,HSPA1L | c.1334G>A (p.Gly445Asp) c.839G>A (p.Gly280Asp) c.-14+3923C>T (n.-14+3923C>T) | gnomAD v4 |
6 | g.31817090G>C | CA363417424 | HSPA1A,HSPA1L | c.1334G>C (p.Gly445Ala) c.839G>C (p.Gly280Ala) c.-14+3923C>G (n.-14+3923C>G) | |
6 | g.31817090G>T | CA363417428 | HSPA1A,HSPA1L | c.1334G>T (p.Gly445Val) c.839G>T (p.Gly280Val) c.-14+3923C>A (n.-14+3923C>A) | |
6 | g.31817091C>A | CA449806384 | HSPA1A,HSPA1L | c.1335C>A (p.Gly445=) c.840C>A (p.Gly280=) c.-14+3922G>T (n.-14+3922G>T) | gnomAD v4 |
6 | g.31817091C= | CA1619307576 | HSPA1A,HSPA1L | c.1335C= (p.Gly445=) c.840C= (p.Gly280=) c.-14+3922G= (n.-14+3922G=) | |
6 | g.31817091C>G | CA449806385 | HSPA1A,HSPA1L | c.1335C>G (p.Gly445=) c.840C>G (p.Gly280=) c.-14+3922G>C (n.-14+3922G>C) | |
6 | g.31817091C>T | CA449806386 | HSPA1A,HSPA1L | c.1335C>T (p.Gly445=) c.840C>T (p.Gly280=) c.-14+3922G>A (n.-14+3922G>A) | dbSNP gnomAD v4 |
6 | g.31817092G>A | CA363417433 | HSPA1A,HSPA1L | c.1336G>A (p.Glu446Lys) c.841G>A (p.Glu281Lys) c.-14+3921C>T (n.-14+3921C>T) | |
6 | g.31817092G>C | CA363417442 | HSPA1A,HSPA1L | c.1336G>C (p.Glu446Gln) c.841G>C (p.Glu281Gln) c.-14+3921C>G (n.-14+3921C>G) | |
6 | g.31817092G>T | CA363417449 | HSPA1A,HSPA1L | c.1336G>T (p.Glu446Ter) c.841G>T (p.Glu281Ter) c.-14+3921C>A (n.-14+3921C>A) | |
6 | g.31817093A>C | CA363417462 | HSPA1A,HSPA1L | c.1337A>C (p.Glu446Ala) c.842A>C (p.Glu281Ala) c.-14+3920T>G (n.-14+3920T>G) | |
6 | g.31817093A>G | CA363417459 | HSPA1A,HSPA1L | c.1337A>G (p.Glu446Gly) c.842A>G (p.Glu281Gly) c.-14+3920T>C (n.-14+3920T>C) | |
6 | g.31817093A>T | CA363417454 | HSPA1A,HSPA1L | c.1337A>T (p.Glu446Val) c.842A>T (p.Glu281Val) c.-14+3920T>A (n.-14+3920T>A) | |
6 | g.31817094G>A | CA449806388 | HSPA1A,HSPA1L | c.1338G>A (p.Glu446=) c.843G>A (p.Glu281=) c.-14+3919C>T (n.-14+3919C>T) | |
6 | g.31817094G>C | CA363417466 | HSPA1A,HSPA1L | c.1338G>C (p.Glu446Asp) c.843G>C (p.Glu281Asp) c.-14+3919C>G (n.-14+3919C>G) | |
6 | g.31817094G>T | CA363417469 | HSPA1A,HSPA1L | c.1338G>T (p.Glu446Asp) c.843G>T (p.Glu281Asp) c.-14+3919C>A (n.-14+3919C>A) | |
6 | g.31817095A>C | CA449806390 | HSPA1A,HSPA1L | c.1339A>C (p.Arg447=) c.844A>C (p.Arg282=) c.-14+3918T>G (n.-14+3918T>G) | |
6 | g.31817095A>G | CA363417471 | HSPA1A,HSPA1L | c.1339A>G (p.Arg447Gly) c.844A>G (p.Arg282Gly) c.-14+3918T>C (n.-14+3918T>C) | |
6 | g.31817095A>T | CA363417473 | HSPA1A,HSPA1L | c.1339A>T (p.Arg447Trp) c.844A>T (p.Arg282Trp) c.-14+3918T>A (n.-14+3918T>A) | |
6 | g.31817096G>A | CA363417479 | HSPA1A,HSPA1L | c.1340G>A (p.Arg447Lys) c.845G>A (p.Arg282Lys) c.-14+3917C>T (n.-14+3917C>T) | |
6 | g.31817096G>C | CA363417485 | HSPA1A,HSPA1L | c.1340G>C (p.Arg447Thr) c.845G>C (p.Arg282Thr) c.-14+3917C>G (n.-14+3917C>G) | |
6 | g.31817096G>T | CA363417488 | HSPA1A,HSPA1L | c.1340G>T (p.Arg447Met) c.845G>T (p.Arg282Met) c.-14+3917C>A (n.-14+3917C>A) | |
6 | g.31817097G>A | CA449806392 | HSPA1A,HSPA1L | c.1341G>A (p.Arg447=) c.846G>A (p.Arg282=) c.-14+3916C>T (n.-14+3916C>T) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.31817097G>C | CA363417492 | HSPA1A,HSPA1L | c.1341G>C (p.Arg447Ser) c.846G>C (p.Arg282Ser) c.-14+3916C>G (n.-14+3916C>G) | |
6 | g.31817097G= | CA1619307577 | HSPA1A,HSPA1L | c.1341G= (p.Arg447=) c.846G= (p.Arg282=) c.-14+3916C= (n.-14+3916C=) | |
6 | g.31817097G>T | CA363417493 | HSPA1A,HSPA1L | c.1341G>T (p.Arg447Ser) c.846G>T (p.Arg282Ser) c.-14+3916C>A (n.-14+3916C>A) | |
6 | g.31817098G>A | CA363417495 | HSPA1A,HSPA1L | c.1342G>A (p.Ala448Thr) c.847G>A (p.Ala283Thr) c.-14+3915C>T (n.-14+3915C>T) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.31817098G>C | CA363417496 | HSPA1A,HSPA1L | c.1342G>C (p.Ala448Pro) c.847G>C (p.Ala283Pro) c.-14+3915C>G (n.-14+3915C>G) | |
6 | g.31817098G= | CA1619307578 | HSPA1A,HSPA1L | c.1342G= (p.Ala448=) c.847G= (p.Ala283=) c.-14+3915C= (n.-14+3915C=) | |
6 | g.31817098G>T | CA363417506 | HSPA1A,HSPA1L | c.1342G>T (p.Ala448Ser) c.847G>T (p.Ala283Ser) c.-14+3915C>A (n.-14+3915C>A) | |
6 | g.31817099C>A | CA363417523 | HSPA1A,HSPA1L | c.1343C>A (p.Ala448Asp) c.848C>A (p.Ala283Asp) c.-14+3914G>T (n.-14+3914G>T) | |
6 | g.31817099C>G | CA363417513 | HSPA1A,HSPA1L | c.1343C>G (p.Ala448Gly) c.848C>G (p.Ala283Gly) c.-14+3914G>C (n.-14+3914G>C) | |
6 | g.31817099C>T | CA363417510 | HSPA1A,HSPA1L | c.1343C>T (p.Ala448Val) c.848C>T (p.Ala283Val) c.-14+3914G>A (n.-14+3914G>A) | |
6 | g.31817100C>A | CA449806396 | HSPA1A,HSPA1L | c.1344C>A (p.Ala448=) c.849C>A (p.Ala283=) c.-14+3913G>T (n.-14+3913G>T) | |
6 | g.31817100C>G | CA449806398 | HSPA1A,HSPA1L | c.1344C>G (p.Ala448=) c.849C>G (p.Ala283=) c.-14+3913G>C (n.-14+3913G>C) | |
6 | g.31817100C>T | CA449806397 | HSPA1A,HSPA1L | c.1344C>T (p.Ala448=) c.849C>T (p.Ala283=) c.-14+3913G>A (n.-14+3913G>A) | |
6 | g.31817101A>C | CA363417527 | HSPA1A,HSPA1L | c.1345A>C (p.Met449Leu) c.850A>C (p.Met284Leu) c.-14+3912T>G (n.-14+3912T>G) | |
6 | g.31817101A>G | CA363417528 | HSPA1A,HSPA1L | c.1345A>G (p.Met449Val) c.850A>G (p.Met284Val) c.-14+3912T>C (n.-14+3912T>C) | gnomAD v4 |
6 | g.31817101A>T | CA363417530 | HSPA1A,HSPA1L | c.1345A>T (p.Met449Leu) c.850A>T (p.Met284Leu) c.-14+3912T>A (n.-14+3912T>A) | |
6 | g.31817102T>A | CA363417537 | HSPA1A,HSPA1L | c.1346T>A (p.Met449Lys) c.851T>A (p.Met284Lys) c.-14+3911A>T (n.-14+3911A>T) | |
6 | g.31817102T>C | CA363417539 | HSPA1A,HSPA1L | c.1346T>C (p.Met449Thr) c.851T>C (p.Met284Thr) c.-14+3911A>G (n.-14+3911A>G) | gnomAD v4 |
6 | g.31817102T>G | CA363417541 | HSPA1A,HSPA1L | c.1346T>G (p.Met449Arg) c.851T>G (p.Met284Arg) c.-14+3911A>C (n.-14+3911A>C) | |
6 | g.31817103G>A | CA363417545 | HSPA1A,HSPA1L | c.1347G>A (p.Met449Ile) c.852G>A (p.Met284Ile) c.-14+3910C>T (n.-14+3910C>T) | |
6 | g.31817103G>C | CA363417547 | HSPA1A,HSPA1L | c.1347G>C (p.Met449Ile) c.852G>C (p.Met284Ile) c.-14+3910C>G (n.-14+3910C>G) | |
6 | g.31817103G>T | CA363417548 | HSPA1A,HSPA1L | c.1347G>T (p.Met449Ile) c.852G>T (p.Met284Ile) c.-14+3910C>A (n.-14+3910C>A) | |
6 | g.31817104A>C | CA363417549 | HSPA1A,HSPA1L | c.1348A>C (p.Thr450Pro) c.853A>C (p.Thr285Pro) c.-14+3909T>G (n.-14+3909T>G) | |
6 | g.31817104A>G | CA363417550 | HSPA1A,HSPA1L | c.1348A>G (p.Thr450Ala) c.853A>G (p.Thr285Ala) c.-14+3909T>C (n.-14+3909T>C) | |
6 | g.31817104A>T | CA363417551 | HSPA1A,HSPA1L | c.1348A>T (p.Thr450Ser) c.853A>T (p.Thr285Ser) c.-14+3909T>A (n.-14+3909T>A) | |
6 | g.31817105C>A | CA363417564 | HSPA1A,HSPA1L | c.1349C>A (p.Thr450Lys) c.854C>A (p.Thr285Lys) c.-14+3908G>T (n.-14+3908G>T) | |
6 | g.31817105C= | CA1619307579 | HSPA1A,HSPA1L | c.1349C= (p.Thr450=) c.854C= (p.Thr285=) c.-14+3908G= (n.-14+3908G=) | |
6 | g.31817105C>G | CA363417566 | HSPA1A,HSPA1L | c.1349C>G (p.Thr450Arg) c.854C>G (p.Thr285Arg) c.-14+3908G>C (n.-14+3908G>C) | dbSNP |
6 | g.31817105C>T | CA363417561 | HSPA1A,HSPA1L | c.1349C>T (p.Thr450Met) c.854C>T (p.Thr285Met) c.-14+3908G>A (n.-14+3908G>A) | gnomAD v4 |
6 | g.31817106G>A | CA449806405 | HSPA1A,HSPA1L | c.1350G>A (p.Thr450=) c.855G>A (p.Thr285=) c.-14+3907C>T (n.-14+3907C>T) | gnomAD v4 |
6 | g.31817106G>C | CA449806407 | HSPA1A,HSPA1L | c.1350G>C (p.Thr450=) c.855G>C (p.Thr285=) c.-14+3907C>G (n.-14+3907C>G) | gnomAD v4 |
6 | g.31817106G>T | CA449806406 | HSPA1A,HSPA1L | c.1350G>T (p.Thr450=) c.855G>T (p.Thr285=) c.-14+3907C>A (n.-14+3907C>A) | gnomAD v4 |
6 | g.31817107A>C | CA363417568 | HSPA1A,HSPA1L | c.1351A>C (p.Lys451Gln) c.856A>C (p.Lys286Gln) c.-14+3906T>G (n.-14+3906T>G) | |
6 | g.31817107A>G | CA363417571 | HSPA1A,HSPA1L | c.1351A>G (p.Lys451Glu) c.856A>G (p.Lys286Glu) c.-14+3906T>C (n.-14+3906T>C) | |
6 | g.31817107A>T | CA363417575 | HSPA1A,HSPA1L | c.1351A>T (p.Lys451Ter) c.856A>T (p.Lys286Ter) c.-14+3906T>A (n.-14+3906T>A) | |
6 | g.31817108A>C | CA363417579 | HSPA1A,HSPA1L | c.1352A>C (p.Lys451Thr) c.857A>C (p.Lys286Thr) c.-14+3905T>G (n.-14+3905T>G) | |
6 | g.31817108A>G | CA363417581 | HSPA1A,HSPA1L | c.1352A>G (p.Lys451Arg) c.857A>G (p.Lys286Arg) c.-14+3905T>C (n.-14+3905T>C) | |
6 | g.31817108A>T | CA363417584 | HSPA1A,HSPA1L | c.1352A>T (p.Lys451Ile) c.857A>T (p.Lys286Ile) c.-14+3905T>A (n.-14+3905T>A) | |
6 | g.31817109A>C | CA363417588 | HSPA1A,HSPA1L | c.1353A>C (p.Lys451Asn) c.858A>C (p.Lys286Asn) c.-14+3904T>G (n.-14+3904T>G) | |
6 | g.31817109A>G | CA449806408 | HSPA1A,HSPA1L | c.1353A>G (p.Lys451=) c.858A>G (p.Lys286=) c.-14+3904T>C (n.-14+3904T>C) | |
6 | g.31817109A>T | CA363417591 | HSPA1A,HSPA1L | c.1353A>T (p.Lys451Asn) c.858A>T (p.Lys286Asn) c.-14+3904T>A (n.-14+3904T>A) | |
6 | g.31817110G>A | CA363417598 | HSPA1A,HSPA1L | c.1354G>A (p.Asp452Asn) c.859G>A (p.Asp287Asn) c.-14+3903C>T (n.-14+3903C>T) | |
6 | g.31817110G>C | CA363417601 | HSPA1A,HSPA1L | c.1354G>C (p.Asp452His) c.859G>C (p.Asp287His) c.-14+3903C>G (n.-14+3903C>G) | |
6 | g.31817110G>T | CA363417608 | HSPA1A,HSPA1L | c.1354G>T (p.Asp452Tyr) c.859G>T (p.Asp287Tyr) c.-14+3903C>A (n.-14+3903C>A) | |
6 | g.31817110_31817113delinsGACA | CA1619307580 | HSPA1A,HSPA1L | c.1354_1357delinsGACA (p.Asp452=) c.859_862delinsGACA (p.Asp287=) c.-14+3900_-14+3903delinsTGTC (n.-14+3900_-14+3903delinsTGTC) | |
6 | g.31817111A>C | CA363417613 | HSPA1A,HSPA1L | c.1355A>C (p.Asp452Ala) c.860A>C (p.Asp287Ala) c.-14+3902T>G (n.-14+3902T>G) | |
6 | g.31817111A>G | CA363417615 | HSPA1A,HSPA1L | c.1355A>G (p.Asp452Gly) c.860A>G (p.Asp287Gly) c.-14+3902T>C (n.-14+3902T>C) | |
6 | g.31817111A>T | CA363417620 | HSPA1A,HSPA1L | c.1355A>T (p.Asp452Val) c.860A>T (p.Asp287Val) c.-14+3902T>A (n.-14+3902T>A) | |
6 | g.31817115_31817117del | CA566692201 | HSPA1A,HSPA1L | c.1359_1361del (p.Asn454del) c.864_866del (p.Asn289del) c.-14+3900_-14+3902del (n.-14+3900_-14+3902del) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.31817112C>A | CA363417625 | HSPA1A,HSPA1L | c.1356C>A (p.Asp452Glu) c.861C>A (p.Asp287Glu) c.-14+3901G>T (n.-14+3901G>T) | |
6 | g.31817112C>G | CA363417629 | HSPA1A,HSPA1L | c.1356C>G (p.Asp452Glu) c.861C>G (p.Asp287Glu) c.-14+3901G>C (n.-14+3901G>C) | |
6 | g.31817112C>T | CA449806409 | HSPA1A,HSPA1L | c.1356C>T (p.Asp452=) c.861C>T (p.Asp287=) c.-14+3901G>A (n.-14+3901G>A) | |
6 | g.31817113A= | CA1619307581 | HSPA1A,HSPA1L | c.1357A= (p.Asn453=) c.862A= (p.Asn288=) c.-14+3900T= (n.-14+3900T=) | |
6 | g.31817113A>C | CA363417637 | HSPA1A,HSPA1L | c.1357A>C (p.Asn453His) c.862A>C (p.Asn288His) c.-14+3900T>G (n.-14+3900T>G) | |
6 | g.31817113A>G | CA363417644 | HSPA1A,HSPA1L | c.1357A>G (p.Asn453Asp) c.862A>G (p.Asn288Asp) c.-14+3900T>C (n.-14+3900T>C) | dbSNP |
6 | g.31817113A>T | CA363417639 | HSPA1A,HSPA1L | c.1357A>T (p.Asn453Tyr) c.862A>T (p.Asn288Tyr) c.-14+3900T>A (n.-14+3900T>A) | |
6 | g.31817114A>C | CA363417653 | HSPA1A,HSPA1L | c.1358A>C (p.Asn453Thr) c.863A>C (p.Asn288Thr) c.-14+3899T>G (n.-14+3899T>G) | gnomAD v4 |
6 | g.31817114A>G | CA363417657 | HSPA1A,HSPA1L | c.1358A>G (p.Asn453Ser) c.863A>G (p.Asn288Ser) c.-14+3899T>C (n.-14+3899T>C) | |
6 | g.31817114A>T | CA363417659 | HSPA1A,HSPA1L | c.1358A>T (p.Asn453Ile) c.863A>T (p.Asn288Ile) c.-14+3899T>A (n.-14+3899T>A) | |
6 | g.31817115C>A | CA363417678 | HSPA1A,HSPA1L | c.1359C>A (p.Asn453Lys) c.864C>A (p.Asn288Lys) c.-14+3898G>T (n.-14+3898G>T) | |
6 | g.31817115C= | CA1619307582 | HSPA1A,HSPA1L | c.1359C= (p.Asn453=) c.864C= (p.Asn288=) c.-14+3898G= (n.-14+3898G=) | |
6 | g.31817115C>G | CA363417683 | HSPA1A,HSPA1L | c.1359C>G (p.Asn453Lys) c.864C>G (p.Asn288Lys) c.-14+3898G>C (n.-14+3898G>C) | |
6 | g.31817115C>T | CA449806410 | HSPA1A,HSPA1L | c.1359C>T (p.Asn453=) c.864C>T (p.Asn288=) c.-14+3898G>A (n.-14+3898G>A) | dbSNP gnomAD v4 |
6 | g.31817116A>C | CA363417689 | HSPA1A,HSPA1L | c.1360A>C (p.Asn454His) c.865A>C (p.Asn289His) c.-14+3897T>G (n.-14+3897T>G) | |
6 | g.31817116A>G | CA363417694 | HSPA1A,HSPA1L | c.1360A>G (p.Asn454Asp) c.865A>G (p.Asn289Asp) c.-14+3897T>C (n.-14+3897T>C) | |
6 | g.31817116A>T | CA363417710 | HSPA1A,HSPA1L | c.1360A>T (p.Asn454Tyr) c.865A>T (p.Asn289Tyr) c.-14+3897T>A (n.-14+3897T>A) | |
6 | g.31817117A>C | CA363417713 | HSPA1A,HSPA1L | c.1361A>C (p.Asn454Thr) c.866A>C (p.Asn289Thr) c.-14+3896T>G (n.-14+3896T>G) | |
6 | g.31817117A>G | CA363417714 | HSPA1A,HSPA1L | c.1361A>G (p.Asn454Ser) c.866A>G (p.Asn289Ser) c.-14+3896T>C (n.-14+3896T>C) | gnomAD v4 |
6 | g.31817117A>T | CA363417717 | HSPA1A,HSPA1L | c.1361A>T (p.Asn454Ile) c.866A>T (p.Asn289Ile) c.-14+3896T>A (n.-14+3896T>A) | |
6 | g.31817118T>A | CA363417722 | HSPA1A,HSPA1L | c.1362T>A (p.Asn454Lys) c.867T>A (p.Asn289Lys) c.-14+3895A>T (n.-14+3895A>T) | |
6 | g.31817118T>C | CA449806411 | HSPA1A,HSPA1L | c.1362T>C (p.Asn454=) c.867T>C (p.Asn289=) c.-14+3895A>G (n.-14+3895A>G) | gnomAD v3 gnomAD v4 |
6 | g.31817118T>G | CA363417723 | HSPA1A,HSPA1L | c.1362T>G (p.Asn454Lys) c.867T>G (p.Asn289Lys) c.-14+3895A>C (n.-14+3895A>C) | |
6 | g.31817119C>A | CA363417724 | HSPA1A,HSPA1L | c.1363C>A (p.Leu455Met) c.868C>A (p.Leu290Met) c.-14+3894G>T (n.-14+3894G>T) | dbSNP |
6 | g.31817119C= | CA1619307583 | HSPA1A,HSPA1L | c.1363C= (p.Leu455=) c.868C= (p.Leu290=) c.-14+3894G= (n.-14+3894G=) | |
6 | g.31817119C>G | CA363417725 | HSPA1A,HSPA1L | c.1363C>G (p.Leu455Val) c.868C>G (p.Leu290Val) c.-14+3894G>C (n.-14+3894G>C) | |
6 | g.31817119C>T | CA449806412 | HSPA1A,HSPA1L | c.1363C>T (p.Leu455=) c.868C>T (p.Leu290=) c.-14+3894G>A (n.-14+3894G>A) | |
6 | g.31817120T>A | CA363417730 | HSPA1A,HSPA1L | c.1364T>A (p.Leu455Gln) c.869T>A (p.Leu290Gln) c.-14+3893A>T (n.-14+3893A>T) | |
6 | g.31817120T>C | CA363417738 | HSPA1A,HSPA1L | c.1364T>C (p.Leu455Pro) c.869T>C (p.Leu290Pro) c.-14+3893A>G (n.-14+3893A>G) | |
6 | g.31817120T>G | CA363417741 | HSPA1A,HSPA1L | c.1364T>G (p.Leu455Arg) c.869T>G (p.Leu290Arg) c.-14+3893A>C (n.-14+3893A>C) | |
6 | g.31817121G>A | CA449806413 | HSPA1A,HSPA1L | c.1365G>A (p.Leu455=) c.870G>A (p.Leu290=) c.-14+3892C>T (n.-14+3892C>T) | gnomAD v4 |
6 | g.31817121G>C | CA449806414 | HSPA1A,HSPA1L | c.1365G>C (p.Leu455=) c.870G>C (p.Leu290=) c.-14+3892C>G (n.-14+3892C>G) | |
6 | g.31817121G>T | CA449806415 | HSPA1A,HSPA1L | c.1365G>T (p.Leu455=) c.870G>T (p.Leu290=) c.-14+3892C>A (n.-14+3892C>A) | gnomAD v4 |
6 | g.31817122T>A | CA363417744 | HSPA1A,HSPA1L | c.1366T>A (p.Leu456Met) c.871T>A (p.Leu291Met) c.-14+3891A>T (n.-14+3891A>T) | |
6 | g.31817122T>C | CA449806416 | HSPA1A,HSPA1L | c.1366T>C (p.Leu456=) c.871T>C (p.Leu291=) c.-14+3891A>G (n.-14+3891A>G) | |
6 | g.31817122T>G | CA363417745 | HSPA1A,HSPA1L | c.1366T>G (p.Leu456Val) c.871T>G (p.Leu291Val) c.-14+3891A>C (n.-14+3891A>C) | |
6 | g.31817123T>A | CA363417747 | HSPA1A,HSPA1L | c.1367T>A (p.Leu456Ter) c.872T>A (p.Leu291Ter) c.-14+3890A>T (n.-14+3890A>T) | |
6 | g.31817123T>C | CA363417750 | HSPA1A,HSPA1L | c.1367T>C (p.Leu456Ser) c.872T>C (p.Leu291Ser) c.-14+3890A>G (n.-14+3890A>G) | gnomAD v4 |
6 | g.31817123T>G | CA363417753 | HSPA1A,HSPA1L | c.1367T>G (p.Leu456Trp) c.872T>G (p.Leu291Trp) c.-14+3890A>C (n.-14+3890A>C) | |
6 | g.31817124G>A | CA449806417 | HSPA1A,HSPA1L | c.1368G>A (p.Leu456=) c.873G>A (p.Leu291=) c.-14+3889C>T (n.-14+3889C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.31817124G>C | CA363417758 | HSPA1A,HSPA1L | c.1368G>C (p.Leu456Phe) c.873G>C (p.Leu291Phe) c.-14+3889C>G (n.-14+3889C>G) | |
6 | g.31817124G= | CA1619307584 | HSPA1A,HSPA1L | c.1368G= (p.Leu456=) c.873G= (p.Leu291=) c.-14+3889C= (n.-14+3889C=) | |
6 | g.31817124G>T | CA363417760 | HSPA1A,HSPA1L | c.1368G>T (p.Leu456Phe) c.873G>T (p.Leu291Phe) c.-14+3889C>A (n.-14+3889C>A) | |
6 | g.31817125G>A | CA363417767 | HSPA1A,HSPA1L | c.1369G>A (p.Gly457Arg) c.874G>A (p.Gly292Arg) c.-14+3888C>T (n.-14+3888C>T) | gnomAD v4 |
6 | g.31817125G>C | CA363417770 | HSPA1A,HSPA1L | c.1369G>C (p.Gly457Arg) c.874G>C (p.Gly292Arg) c.-14+3888C>G (n.-14+3888C>G) | |
6 | g.31817125G>T | CA363417773 | HSPA1A,HSPA1L | c.1369G>T (p.Gly457Trp) c.874G>T (p.Gly292Trp) c.-14+3888C>A (n.-14+3888C>A) | |
6 | g.31817126G>A | CA363417777 | HSPA1A,HSPA1L | c.1370G>A (p.Gly457Glu) c.875G>A (p.Gly292Glu) c.-14+3887C>T (n.-14+3887C>T) | |
6 | g.31817126G>C | CA363417780 | HSPA1A,HSPA1L | c.1370G>C (p.Gly457Ala) c.875G>C (p.Gly292Ala) c.-14+3887C>G (n.-14+3887C>G) | gnomAD v4 |
6 | g.31817126G>T | CA363417779 | HSPA1A,HSPA1L | c.1370G>T (p.Gly457Val) c.875G>T (p.Gly292Val) c.-14+3887C>A (n.-14+3887C>A) | |
6 | g.31817127G>A | CA449806418 | HSPA1A,HSPA1L | c.1371G>A (p.Gly457=) c.876G>A (p.Gly292=) c.-14+3886C>T (n.-14+3886C>T) | |
6 | g.31817127G>C | CA449806419 | HSPA1A,HSPA1L | c.1371G>C (p.Gly457=) c.876G>C (p.Gly292=) c.-14+3886C>G (n.-14+3886C>G) | |
6 | g.31817127G>T | CA449806420 | HSPA1A,HSPA1L | c.1371G>T (p.Gly457=) c.876G>T (p.Gly292=) c.-14+3886C>A (n.-14+3886C>A) | |
6 | g.31817128C>A | CA363417785 | HSPA1A,HSPA1L | c.1372C>A (p.Arg458Ser) c.877C>A (p.Arg293Ser) c.-14+3885G>T (n.-14+3885G>T) | |
6 | g.31817128C>G | CA363417787 | HSPA1A,HSPA1L | c.1372C>G (p.Arg458Gly) c.877C>G (p.Arg293Gly) c.-14+3885G>C (n.-14+3885G>C) | |
6 | g.31817128C>T | CA363417791 | HSPA1A,HSPA1L | c.1372C>T (p.Arg458Cys) c.877C>T (p.Arg293Cys) c.-14+3885G>A (n.-14+3885G>A) | gnomAD v4 |
6 | g.31817129G>A | CA363417796 | HSPA1A,HSPA1L | c.1373G>A (p.Arg458His) c.878G>A (p.Arg293His) c.-14+3884C>T (n.-14+3884C>T) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.31817129G>C | CA363417799 | HSPA1A,HSPA1L | c.1373G>C (p.Arg458Pro) c.878G>C (p.Arg293Pro) c.-14+3884C>G (n.-14+3884C>G) | |
6 | g.31817129G= | CA1619307585 | HSPA1A,HSPA1L | c.1373G= (p.Arg458=) c.878G= (p.Arg293=) c.-14+3884C= (n.-14+3884C=) | |
6 | g.31817129G>T | CA363417805 | HSPA1A,HSPA1L | c.1373G>T (p.Arg458Leu) c.878G>T (p.Arg293Leu) c.-14+3884C>A (n.-14+3884C>A) | |
6 | g.31817130C>A | CA449806421 | HSPA1A,HSPA1L | c.1374C>A (p.Arg458=) c.879C>A (p.Arg293=) c.-14+3883G>T (n.-14+3883G>T) | |
6 | g.31817130C>G | CA449806422 | HSPA1A,HSPA1L | c.1374C>G (p.Arg458=) c.879C>G (p.Arg293=) c.-14+3883G>C (n.-14+3883G>C) | |
6 | g.31817130C>T | CA449806423 | HSPA1A,HSPA1L | c.1374C>T (p.Arg458=) c.879C>T (p.Arg293=) c.-14+3883G>A (n.-14+3883G>A) | |
6 | g.31817131T>A | CA363417823 | HSPA1A,HSPA1L | c.1375T>A (p.Phe459Ile) c.880T>A (p.Phe294Ile) c.-14+3882A>T (n.-14+3882A>T) | |
6 | g.31817131T>C | CA363417809 | HSPA1A,HSPA1L | c.1375T>C (p.Phe459Leu) c.880T>C (p.Phe294Leu) c.-14+3882A>G (n.-14+3882A>G) | |
6 | g.31817131T>G | CA363417813 | HSPA1A,HSPA1L | c.1375T>G (p.Phe459Val) c.880T>G (p.Phe294Val) c.-14+3882A>C (n.-14+3882A>C) | |
6 | g.31817132T>A | CA363417830 | HSPA1A,HSPA1L | c.1376T>A (p.Phe459Tyr) c.881T>A (p.Phe294Tyr) c.-14+3881A>T (n.-14+3881A>T) | |
6 | g.31817132T>C | CA363417833 | HSPA1A,HSPA1L | c.1376T>C (p.Phe459Ser) c.881T>C (p.Phe294Ser) c.-14+3881A>G (n.-14+3881A>G) | |
6 | g.31817132T>G | CA363417837 | HSPA1A,HSPA1L | c.1376T>G (p.Phe459Cys) c.881T>G (p.Phe294Cys) c.-14+3881A>C (n.-14+3881A>C) | |
6 | g.31817133C>A | CA363417841 | HSPA1A,HSPA1L | c.1377C>A (p.Phe459Leu) c.882C>A (p.Phe294Leu) c.-14+3880G>T (n.-14+3880G>T) | |
6 | g.31817133C= | CA1619307586 | HSPA1A,HSPA1L | c.1377C= (p.Phe459=) c.882C= (p.Phe294=) c.-14+3880G= (n.-14+3880G=) | |
6 | g.31817133C>G | CA363417843 | HSPA1A,HSPA1L | c.1377C>G (p.Phe459Leu) c.882C>G (p.Phe294Leu) c.-14+3880G>C (n.-14+3880G>C) | gnomAD v4 |
6 | g.31817133C>T | CA449806424 | HSPA1A,HSPA1L | c.1377C>T (p.Phe459=) c.882C>T (p.Phe294=) c.-14+3880G>A (n.-14+3880G>A) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.31817134G>A | CA363417847 | HSPA1A,HSPA1L | c.1378G>A (p.Glu460Lys) c.883G>A (p.Glu295Lys) c.-14+3879C>T (n.-14+3879C>T) | |
6 | g.31817134G>C | CA363417849 | HSPA1A,HSPA1L | c.1378G>C (p.Glu460Gln) c.883G>C (p.Glu295Gln) c.-14+3879C>G (n.-14+3879C>G) | gnomAD v4 |
6 | g.31817134G>T | CA363417848 | HSPA1A,HSPA1L | c.1378G>T (p.Glu460Ter) c.883G>T (p.Glu295Ter) c.-14+3879C>A (n.-14+3879C>A) | |
6 | g.31817135A>C | CA363417852 | HSPA1A,HSPA1L | c.1379A>C (p.Glu460Ala) c.884A>C (p.Glu295Ala) c.-14+3878T>G (n.-14+3878T>G) | |
6 | g.31817135A>G | CA363417854 | HSPA1A,HSPA1L | c.1379A>G (p.Glu460Gly) c.884A>G (p.Glu295Gly) c.-14+3878T>C (n.-14+3878T>C) | |
6 | g.31817135A>T | CA363417856 | HSPA1A,HSPA1L | c.1379A>T (p.Glu460Val) c.884A>T (p.Glu295Val) c.-14+3878T>A (n.-14+3878T>A) | |
6 | g.31817136G>A | CA449806425 | HSPA1A,HSPA1L | c.1380G>A (p.Glu460=) c.885G>A (p.Glu295=) c.-14+3877C>T (n.-14+3877C>T) | |
6 | g.31817136G>C | CA363417865 | HSPA1A,HSPA1L | c.1380G>C (p.Glu460Asp) c.885G>C (p.Glu295Asp) c.-14+3877C>G (n.-14+3877C>G) | |
6 | g.31817136G>T | CA363417868 | HSPA1A,HSPA1L | c.1380G>T (p.Glu460Asp) c.885G>T (p.Glu295Asp) c.-14+3877C>A (n.-14+3877C>A) | |
6 | g.31817137C>A | CA363417875 | HSPA1A,HSPA1L | c.1381C>A (p.Leu461Met) c.886C>A (p.Leu296Met) c.-14+3876G>T (n.-14+3876G>T) | |
6 | g.31817137C>G | CA363417876 | HSPA1A,HSPA1L | c.1381C>G (p.Leu461Val) c.886C>G (p.Leu296Val) c.-14+3876G>C (n.-14+3876G>C) | |
6 | g.31817137C>T | CA449806426 | HSPA1A,HSPA1L | c.1381C>T (p.Leu461=) c.886C>T (p.Leu296=) c.-14+3876G>A (n.-14+3876G>A) | |
6 | g.31817138T>A | CA363417880 | HSPA1A,HSPA1L | c.1382T>A (p.Leu461Gln) c.887T>A (p.Leu296Gln) c.-14+3875A>T (n.-14+3875A>T) | |
6 | g.31817138T>C | CA363417884 | HSPA1A,HSPA1L | c.1382T>C (p.Leu461Pro) c.887T>C (p.Leu296Pro) c.-14+3875A>G (n.-14+3875A>G) | |
6 | g.31817138T>G | CA363417888 | HSPA1A,HSPA1L | c.1382T>G (p.Leu461Arg) c.887T>G (p.Leu296Arg) c.-14+3875A>C (n.-14+3875A>C) | |
6 | g.31817139G>A | CA449806427 | HSPA1A,HSPA1L | c.1383G>A (p.Leu461=) c.888G>A (p.Leu296=) c.-14+3874C>T (n.-14+3874C>T) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.31817139G>C | CA449806428 | HSPA1A,HSPA1L | c.1383G>C (p.Leu461=) c.888G>C (p.Leu296=) c.-14+3874C>G (n.-14+3874C>G) | |
6 | g.31817139G= | CA1619307587 | HSPA1A,HSPA1L | c.1383G= (p.Leu461=) c.888G= (p.Leu296=) c.-14+3874C= (n.-14+3874C=) | |
6 | g.31817139G>T | CA449806429 | HSPA1A,HSPA1L | c.1383G>T (p.Leu461=) c.888G>T (p.Leu296=) c.-14+3874C>A (n.-14+3874C>A) | |
6 | g.31817140A>C | CA363417891 | HSPA1A,HSPA1L | c.1384A>C (p.Ser462Arg) c.889A>C (p.Ser297Arg) c.-14+3873T>G (n.-14+3873T>G) | |
6 | g.31817140A>G | CA363417893 | HSPA1A,HSPA1L | c.1384A>G (p.Ser462Gly) c.889A>G (p.Ser297Gly) c.-14+3873T>C (n.-14+3873T>C) | |
6 | g.31817140A>T | CA363417892 | HSPA1A,HSPA1L | c.1384A>T (p.Ser462Cys) c.889A>T (p.Ser297Cys) c.-14+3873T>A (n.-14+3873T>A) | |
6 | g.31817141G>A | CA363417896 | HSPA1A,HSPA1L | c.1385G>A (p.Ser462Asn) c.890G>A (p.Ser297Asn) c.-14+3872C>T (n.-14+3872C>T) | gnomAD v4 |
6 | g.31817141G>C | CA363417902 | HSPA1A,HSPA1L | c.1385G>C (p.Ser462Thr) c.890G>C (p.Ser297Thr) c.-14+3872C>G (n.-14+3872C>G) | |
6 | g.31817141G>T | CA363417899 | HSPA1A,HSPA1L | c.1385G>T (p.Ser462Ile) c.890G>T (p.Ser297Ile) c.-14+3872C>A (n.-14+3872C>A) |