Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.7579979_7579995del | CA2677234281 | DSP | c.3789_3805del (p.Thr1264SerfsTer2) c.3582+207_3582+223del (n.3582+207_3582+223del) | ClinVar gnomAD v4 |
6 | g.7579983G>A | CA362684867 | DSP | c.3793G>A (p.Glu1265Lys) c.3582+211G>A (n.3582+211G>A) | gnomAD v4 |
6 | g.7579983G>C | CA362684868 | DSP | c.3793G>C (p.Glu1265Gln) c.3582+211G>C (n.3582+211G>C) | |
6 | g.7579983G= | CA1608615434 | DSP | c.3793G= (p.Glu1265=) c.3582+211G= (n.3582+211G=) | |
6 | g.7579983G>T | CA362684869 | DSP | c.3793G>T (p.Glu1265Ter) c.3582+211G>T (n.3582+211G>T) | ClinVar dbSNP |
6 | g.7579984A>C | CA362684870 | DSP | c.3794A>C (p.Glu1265Ala) c.3582+212A>C (n.3582+212A>C) | |
6 | g.7579984A>G | CA362684871 | DSP | c.3794A>G (p.Glu1265Gly) c.3582+212A>G (n.3582+212A>G) | ClinVar gnomAD v4 |
6 | g.7579984A>T | CA362684872 | DSP | c.3794A>T (p.Glu1265Val) c.3582+212A>T (n.3582+212A>T) | |
6 | g.7579985G>A | CA448715048 | DSP | c.3795G>A (p.Glu1265=) c.3582+213G>A (n.3582+213G>A) | gnomAD v4 |
6 | g.7579985G>C | CA362684873 | DSP | c.3795G>C (p.Glu1265Asp) c.3582+213G>C (n.3582+213G>C) | |
6 | g.7579985G>T | CA362684874 | DSP | c.3795G>T (p.Glu1265Asp) c.3582+213G>T (n.3582+213G>T) | |
6 | g.7579986C>A | CA362684875 | DSP | c.3796C>A (p.Gln1266Lys) c.3582+214C>A (n.3582+214C>A) | |
6 | g.7579986C= | CA1608615440 | DSP | c.3796C= (p.Gln1266=) c.3582+214C= (n.3582+214C=) | |
6 | g.7579986C>G | CA362684876 | DSP | c.3796C>G (p.Gln1266Glu) c.3582+214C>G (n.3582+214C>G) | ClinVar dbSNP |
6 | g.7579986C>T | CA362684877 | DSP | c.3796C>T (p.Gln1266Ter) c.3582+214C>T (n.3582+214C>T) | |
6 | g.7579987A= | CA1608615445 | DSP | c.3797A= (p.Gln1266=) c.3582+215A= (n.3582+215A=) | |
6 | g.7579987A>C | CA362684879 | DSP | c.3797A>C (p.Gln1266Pro) c.3582+215A>C (n.3582+215A>C) | |
6 | g.7579987A>G | CA039057 | DSP | c.3797A>G (p.Gln1266Arg) c.3582+215A>G (n.3582+215A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.7579987A>T | CA362684878 | DSP | c.3797A>T (p.Gln1266Leu) c.3582+215A>T (n.3582+215A>T) | COSMIC |
6 | g.7579988G>A | CA448715061 | DSP | c.3798G>A (p.Gln1266=) c.3582+216G>A (n.3582+216G>A) | |
6 | g.7579988G>C | CA362684880 | DSP | c.3798G>C (p.Gln1266His) c.3582+216G>C (n.3582+216G>C) | |
6 | g.7579988G>T | CA362684881 | DSP | c.3798G>T (p.Gln1266His) c.3582+216G>T (n.3582+216G>T) | gnomAD v4 |
6 | g.7579989C>A | CA448715065 | DSP | c.3799C>A (p.Arg1267=) c.3582+217C>A (n.3582+217C>A) | ClinVar |
6 | g.7579989C= | CA1608615458 | DSP | c.3799C= (p.Arg1267=) c.3582+217C= (n.3582+217C=) | |
6 | g.7579989C>G | CA362684882 | DSP | c.3799C>G (p.Arg1267Gly) c.3582+217C>G (n.3582+217C>G) | ClinVar dbSNP |
6 | g.7579989C>T | CA004255 | DSP | c.3799C>T (p.Arg1267Ter) c.3582+217C>T (n.3582+217C>T) | ClinVar dbSNP gnomAD v4 |
6 | g.7579990G>A | CA004259 | DSP | c.3800G>A (p.Arg1267Gln) c.3582+218G>A (n.3582+218G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7579990G>C | CA362684883 | DSP | c.3800G>C (p.Arg1267Pro) c.3582+218G>C (n.3582+218G>C) | gnomAD v4 |
6 | g.7579990G= | CA1608615465 | DSP | c.3800G= (p.Arg1267=) c.3582+218G= (n.3582+218G=) | |
6 | g.7579990G>T | CA362684884 | DSP | c.3800G>T (p.Arg1267Leu) c.3582+218G>T (n.3582+218G>T) | |
6 | g.7579991A>C | CA448715075 | DSP | c.3801A>C (p.Arg1267=) c.3582+219A>C (n.3582+219A>C) | |
6 | g.7579991A>G | CA448715076 | DSP | c.3801A>G (p.Arg1267=) c.3582+219A>G (n.3582+219A>G) | |
6 | g.7579991A>T | CA448715077 | DSP | c.3801A>T (p.Arg1267=) c.3582+219A>T (n.3582+219A>T) | |
6 | g.7579992A>C | CA448715079 | DSP | c.3802A>C (p.Arg1268=) c.3582+220A>C (n.3582+220A>C) | |
6 | g.7579992A>G | CA362684885 | DSP | c.3802A>G (p.Arg1268Gly) c.3582+220A>G (n.3582+220A>G) | |
6 | g.7579992A>T | CA362684886 | DSP | c.3802A>T (p.Arg1268Trp) c.3582+220A>T (n.3582+220A>T) | |
6 | g.7579993G>A | CA362684887 | DSP | c.3803G>A (p.Arg1268Lys) c.3582+221G>A (n.3582+221G>A) | gnomAD v4 |
6 | g.7579993G>C | CA362684888 | DSP | c.3803G>C (p.Arg1268Thr) c.3582+221G>C (n.3582+221G>C) | |
6 | g.7579993G>T | CA362684889 | DSP | c.3803G>T (p.Arg1268Met) c.3582+221G>T (n.3582+221G>T) | gnomAD v4 |
6 | g.7579994G>A | CA448715086 | DSP | c.3804G>A (p.Arg1268=) c.3582+222G>A (n.3582+222G>A) | ClinVar dbSNP gnomAD v4 |
6 | g.7579994G>C | CA362684890 | DSP | c.3804G>C (p.Arg1268Ser) c.3582+222G>C (n.3582+222G>C) | |
6 | g.7579994G= | CA1608615474 | DSP | c.3804G= (p.Arg1268=) c.3582+222G= (n.3582+222G=) | |
6 | g.7579994G>T | CA362684891 | DSP | c.3804G>T (p.Arg1268Ser) c.3582+222G>T (n.3582+222G>T) | |
6 | g.7579995C>A | CA3628097 | DSP | c.3805C>A (p.Arg1269=) c.3582+223C>A (n.3582+223C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.7579995C= | CA1608615486 | DSP | c.3805C= (p.Arg1269=) c.3582+223C= (n.3582+223C=) | |
6 | g.7579995C>G | CA362684892 | DSP | c.3805C>G (p.Arg1269Gly) c.3582+223C>G (n.3582+223C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.7579995C>T | CA004265 | DSP | c.3805C>T (p.Arg1269Ter) c.3582+223C>T (n.3582+223C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.7579995_7579996delinsCG | CA1608615483 | DSP | c.3805_3806delinsCG (p.Arg1269=) c.3582+223_3582+224delinsCG (n.3582+223_3582+224delinsCG) | |
6 | g.7579996del | CA3628098 | DSP | c.3806del (p.Arg1269GlnfsTer16) c.3582+224del (n.3582+224del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.7579996G>A | CA10576699 | DSP | c.3806G>A (p.Arg1269Gln) c.3582+224G>A (n.3582+224G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
6 | g.7579996G>C | CA362684893 | DSP | c.3806G>C (p.Arg1269Pro) c.3582+224G>C (n.3582+224G>C) | |
6 | g.7579996G= | CA1608615513 | DSP | c.3806G= (p.Arg1269=) c.3582+224G= (n.3582+224G=) | |
6 | g.7579996G>T | CA362684894 | DSP | c.3806G>T (p.Arg1269Leu) c.3582+224G>T (n.3582+224G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7579997A>C | CA448715102 | DSP | c.3807A>C (p.Arg1269=) c.3582+225A>C (n.3582+225A>C) | |
6 | g.7579997A>G | CA448715105 | DSP | c.3807A>G (p.Arg1269=) c.3582+225A>G (n.3582+225A>G) | |
6 | g.7579997A>T | CA448715103 | DSP | c.3807A>T (p.Arg1269=) c.3582+225A>T (n.3582+225A>T) | |
6 | g.7579998G>A | CA039131 | DSP | c.3808G>A (p.Ala1270Thr) c.3582+226G>A (n.3582+226G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.7579998G>C | CA362684895 | DSP | c.3808G>C (p.Ala1270Pro) c.3582+226G>C (n.3582+226G>C) | |
6 | g.7579998G= | CA1608615520 | DSP | c.3808G= (p.Ala1270=) c.3582+226G= (n.3582+226G=) | |
6 | g.7579998G>T | CA362684896 | DSP | c.3808G>T (p.Ala1270Ser) c.3582+226G>T (n.3582+226G>T) | |
6 | g.7579999C>A | CA362684897 | DSP | c.3809C>A (p.Ala1270Asp) c.3582+227C>A (n.3582+227C>A) | |
6 | g.7579999C>G | CA362684898 | DSP | c.3809C>G (p.Ala1270Gly) c.3582+227C>G (n.3582+227C>G) | |
6 | g.7579999C>T | CA362684899 | DSP | c.3809C>T (p.Ala1270Val) c.3582+227C>T (n.3582+227C>T) | |
6 | g.7580000T>A | CA448715109 | DSP | c.3810T>A (p.Ala1270=) c.3582+228T>A (n.3582+228T>A) | gnomAD v4 |
6 | g.7580000T>C | CA448715110 | DSP | c.3810T>C (p.Ala1270=) c.3582+228T>C (n.3582+228T>C) | |
6 | g.7580000T>G | CA448715111 | DSP | c.3810T>G (p.Ala1270=) c.3582+228T>G (n.3582+228T>G) | |
6 | g.7580001G>A | CA362684900 | DSP | c.3811G>A (p.Glu1271Lys) c.3582+229G>A (n.3582+229G>A) | ClinVar dbSNP |
6 | g.7580001G>C | CA362684901 | DSP | c.3811G>C (p.Glu1271Gln) c.3582+229G>C (n.3582+229G>C) | |
6 | g.7580001G>T | CA362684902 | DSP | c.3811G>T (p.Glu1271Ter) c.3582+229G>T (n.3582+229G>T) | |
6 | g.7580002A>C | CA362684903 | DSP | c.3812A>C (p.Glu1271Ala) c.3582+230A>C (n.3582+230A>C) | |
6 | g.7580002A>G | CA362684905 | DSP | c.3812A>G (p.Glu1271Gly) c.3582+230A>G (n.3582+230A>G) | |
6 | g.7580002A>T | CA362684904 | DSP | c.3812A>T (p.Glu1271Val) c.3582+230A>T (n.3582+230A>T) | |
6 | g.7580003A>C | CA362684906 | DSP | c.3813A>C (p.Glu1271Asp) c.3582+231A>C (n.3582+231A>C) | |
6 | g.7580003A>G | CA448715116 | DSP | c.3813A>G (p.Glu1271=) c.3582+231A>G (n.3582+231A>G) | |
6 | g.7580003A>T | CA362684907 | DSP | c.3813A>T (p.Glu1271Asp) c.3582+231A>T (n.3582+231A>T) | |
6 | g.7580004G>A | CA362684908 | DSP | c.3814G>A (p.Glu1272Lys) c.3582+232G>A (n.3582+232G>A) | gnomAD v4 COSMIC |
6 | g.7580004G>C | CA362684909 | DSP | c.3814G>C (p.Glu1272Gln) c.3582+232G>C (n.3582+232G>C) | |
6 | g.7580004G>T | CA362684910 | DSP | c.3814G>T (p.Glu1272Ter) c.3582+232G>T (n.3582+232G>T) | |
6 | g.7580005A= | CA1608615525 | DSP | c.3815A= (p.Glu1272=) c.3582+233A= (n.3582+233A=) | |
6 | g.7580005A>C | CA362684911 | DSP | c.3815A>C (p.Glu1272Ala) c.3582+233A>C (n.3582+233A>C) | |
6 | g.7580005A>G | CA362684912 | DSP | c.3815A>G (p.Glu1272Gly) c.3582+233A>G (n.3582+233A>G) | ClinVar dbSNP gnomAD v4 |
6 | g.7580005A>T | CA362684913 | DSP | c.3815A>T (p.Glu1272Val) c.3582+233A>T (n.3582+233A>T) | |
6 | g.7580008dup | CA2842014849 | DSP | c.3818dup (p.Asn1273LysfsTer11) c.3582+236dup (n.3582+236dup) | |
6 | g.7580006A>C | CA362684914 | DSP | c.3816A>C (p.Glu1272Asp) c.3582+234A>C (n.3582+234A>C) | |
6 | g.7580006A>G | CA448715122 | DSP | c.3816A>G (p.Glu1272=) c.3582+234A>G (n.3582+234A>G) | |
6 | g.7580006A>T | CA362684915 | DSP | c.3816A>T (p.Glu1272Asp) c.3582+234A>T (n.3582+234A>T) | gnomAD v4 |
6 | g.7580007A>C | CA362684916 | DSP | c.3817A>C (p.Asn1273His) c.3582+235A>C (n.3582+235A>C) | |
6 | g.7580007A>G | CA362684917 | DSP | c.3817A>G (p.Asn1273Asp) c.3582+235A>G (n.3582+235A>G) | |
6 | g.7580007A>T | CA362684918 | DSP | c.3817A>T (p.Asn1273Tyr) c.3582+235A>T (n.3582+235A>T) | |
6 | g.7580008A>C | CA362684921 | DSP | c.3818A>C (p.Asn1273Thr) c.3582+236A>C (n.3582+236A>C) | |
6 | g.7580008A>G | CA362684919 | DSP | c.3818A>G (p.Asn1273Ser) c.3582+236A>G (n.3582+236A>G) | |
6 | g.7580008A>T | CA362684920 | DSP | c.3818A>T (p.Asn1273Ile) c.3582+236A>T (n.3582+236A>T) | |
6 | g.7580009C>A | CA362684922 | DSP | c.3819C>A (p.Asn1273Lys) c.3582+237C>A (n.3582+237C>A) | |
6 | g.7580009C= | CA1608615529 | DSP | c.3819C= (p.Asn1273=) c.3582+237C= (n.3582+237C=) | |
6 | g.7580009C>G | CA362684923 | DSP | c.3819C>G (p.Asn1273Lys) c.3582+237C>G (n.3582+237C>G) | |
6 | g.7580009C>T | CA448715128 | DSP | c.3819C>T (p.Asn1273=) c.3582+237C>T (n.3582+237C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
6 | g.7580010G>A | CA362684924 | DSP | c.3820G>A (p.Ala1274Thr) c.3582+238G>A (n.3582+238G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.7580010G>C | CA362684925 | DSP | c.3820G>C (p.Ala1274Pro) c.3582+238G>C (n.3582+238G>C) | ClinVar dbSNP gnomAD v4 |
6 | g.7580010G= | CA1608615535 | DSP | c.3820G= (p.Ala1274=) c.3582+238G= (n.3582+238G=) | |
6 | g.7580010G>T | CA362684926 | DSP | c.3820G>T (p.Ala1274Ser) c.3582+238G>T (n.3582+238G>T) | ClinVar dbSNP COSMIC |
6 | g.7580011C>A | CA362684927 | DSP | c.3821C>A (p.Ala1274Asp) c.3582+239C>A (n.3582+239C>A) | |
6 | g.7580011C>G | CA362684928 | DSP | c.3821C>G (p.Ala1274Gly) c.3582+239C>G (n.3582+239C>G) | |
6 | g.7580011C>T | CA362684929 | DSP | c.3821C>T (p.Ala1274Val) c.3582+239C>T (n.3582+239C>T) | |
6 | g.7580012C>A | CA448715141 | DSP | c.3822C>A (p.Ala1274=) c.3582+240C>A (n.3582+240C>A) | |
6 | g.7580012C= | CA1608615549 | DSP | c.3822C= (p.Ala1274=) c.3582+240C= (n.3582+240C=) | |
6 | g.7580012C>G | CA448715137 | DSP | c.3822C>G (p.Ala1274=) c.3582+240C>G (n.3582+240C>G) | |
6 | g.7580012C>T | CA448715140 | DSP | c.3822C>T (p.Ala1274=) c.3582+240C>T (n.3582+240C>T) | ClinVar dbSNP gnomAD v4 |
6 | g.7580013C>A | CA362684930 | DSP | c.3823C>A (p.Leu1275Ile) c.3582+241C>A (n.3582+241C>A) | |
6 | g.7580013C>G | CA362684931 | DSP | c.3823C>G (p.Leu1275Val) c.3582+241C>G (n.3582+241C>G) | |
6 | g.7580013C>T | CA362684932 | DSP | c.3823C>T (p.Leu1275Phe) c.3582+241C>T (n.3582+241C>T) | |
6 | g.7580014T>A | CA362684933 | DSP | c.3824T>A (p.Leu1275His) c.3582+242T>A (n.3582+242T>A) | |
6 | g.7580014T>C | CA362684935 | DSP | c.3824T>C (p.Leu1275Pro) c.3582+242T>C (n.3582+242T>C) | |
6 | g.7580014T>G | CA362684934 | DSP | c.3824T>G (p.Leu1275Arg) c.3582+242T>G (n.3582+242T>G) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.7580014T= | CA1608615553 | DSP | c.3824T= (p.Leu1275=) c.3582+242T= (n.3582+242T=) | |
6 | g.7580015T>A | CA448715146 | DSP | c.3825T>A (p.Leu1275=) c.3582+243T>A (n.3582+243T>A) | |
6 | g.7580015T>C | CA448715147 | DSP | c.3825T>C (p.Leu1275=) c.3582+243T>C (n.3582+243T>C) | |
6 | g.7580015T>G | CA448715149 | DSP | c.3825T>G (p.Leu1275=) c.3582+243T>G (n.3582+243T>G) | |
6 | g.7580016C>A | CA362684936 | DSP | c.3826C>A (p.Gln1276Lys) c.3582+244C>A (n.3582+244C>A) | |
6 | g.7580016C= | CA1608615561 | DSP | c.3826C= (p.Gln1276=) c.3582+244C= (n.3582+244C=) | |
6 | g.7580016C>G | CA362684937 | DSP | c.3826C>G (p.Gln1276Glu) c.3582+244C>G (n.3582+244C>G) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
6 | g.7580016C>T | CA362684938 | DSP | c.3826C>T (p.Gln1276Ter) c.3582+244C>T (n.3582+244C>T) | ClinVar |
6 | g.7580017A>C | CA362684939 | DSP | c.3827A>C (p.Gln1276Pro) c.3582+245A>C (n.3582+245A>C) | |
6 | g.7580017A>G | CA362684940 | DSP | c.3827A>G (p.Gln1276Arg) c.3582+245A>G (n.3582+245A>G) | |
6 | g.7580017A>T | CA362684941 | DSP | c.3827A>T (p.Gln1276Leu) c.3582+245A>T (n.3582+245A>T) | |
6 | g.7580018G>A | CA448715153 | DSP | c.3828G>A (p.Gln1276=) c.3582+246G>A (n.3582+246G>A) | ClinVar |
6 | g.7580018G>C | CA362684942 | DSP | c.3828G>C (p.Gln1276His) c.3582+246G>C (n.3582+246G>C) | |
6 | g.7580018G>T | CA362684943 | DSP | c.3828G>T (p.Gln1276His) c.3582+246G>T (n.3582+246G>T) | |
6 | g.7580019C>A | CA362684944 | DSP | c.3829C>A (p.Gln1277Lys) c.3582+247C>A (n.3582+247C>A) | |
6 | g.7580019C= | CA1608615568 | DSP | c.3829C= (p.Gln1277=) c.3582+247C= (n.3582+247C=) | |
6 | g.7580019C>G | CA362684945 | DSP | c.3829C>G (p.Gln1277Glu) c.3582+247C>G (n.3582+247C>G) | |
6 | g.7580019C>T | CA004272 | DSP | c.3829C>T (p.Gln1277Ter) c.3582+247C>T (n.3582+247C>T) | ClinVar dbSNP gnomAD v4 |
6 | g.7580020A= | CA1608615575 | DSP | c.3830A= (p.Gln1277=) c.3582+248A= (n.3582+248A=) | |
6 | g.7580020A>C | CA362684946 | DSP | c.3830A>C (p.Gln1277Pro) c.3582+248A>C (n.3582+248A>C) | |
6 | g.7580020A>G | CA362684947 | DSP | c.3830A>G (p.Gln1277Arg) c.3582+248A>G (n.3582+248A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.7580020A>T | CA362684948 | DSP | c.3830A>T (p.Gln1277Leu) c.3582+248A>T (n.3582+248A>T) | |
6 | g.7580021A= | CA1608615588 | DSP | c.3831A= (p.Gln1277=) c.3582+249A= (n.3582+249A=) | |
6 | g.7580021A>C | CA362684950 | DSP | c.3831A>C (p.Gln1277His) c.3582+249A>C (n.3582+249A>C) | |
6 | g.7580021A>G | CA039151 | DSP | c.3831A>G (p.Gln1277=) c.3582+249A>G (n.3582+249A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
6 | g.7580021A>T | CA362684949 | DSP | c.3831A>T (p.Gln1277His) c.3582+249A>T (n.3582+249A>T) | |
6 | g.7580022A>C | CA362684951 | DSP | c.3832A>C (p.Lys1278Gln) c.3582+250A>C (n.3582+250A>C) | |
6 | g.7580022A>G | CA362684952 | DSP | c.3832A>G (p.Lys1278Glu) c.3582+250A>G (n.3582+250A>G) | gnomAD v4 |
6 | g.7580022A>T | CA362684953 | DSP | c.3832A>T (p.Lys1278Ter) c.3582+250A>T (n.3582+250A>T) | |
6 | g.7580023A>C | CA362684954 | DSP | c.3833A>C (p.Lys1278Thr) c.3582+251A>C (n.3582+251A>C) | |
6 | g.7580023A>G | CA362684955 | DSP | c.3833A>G (p.Lys1278Arg) c.3582+251A>G (n.3582+251A>G) | |
6 | g.7580023A>T | CA362684956 | DSP | c.3833A>T (p.Lys1278Met) c.3582+251A>T (n.3582+251A>T) | |
6 | g.7580024G>A | CA448715166 | DSP | c.3834G>A (p.Lys1278=) c.3582+252G>A (n.3582+252G>A) | gnomAD v4 |
6 | g.7580024G>C | CA362684957 | DSP | c.3834G>C (p.Lys1278Asn) c.3582+252G>C (n.3582+252G>C) | |
6 | g.7580024G>T | CA362684958 | DSP | c.3834G>T (p.Lys1278Asn) c.3582+252G>T (n.3582+252G>T) | gnomAD v3 gnomAD v4 |
6 | g.7580024_7580117del | CA2837995075 | DSP | c.3834_3927del (p.Ala1279SerfsTer?) c.3582+252_3582+345del (n.3582+252_3582+345del) | |
6 | g.7580025G>A | CA039160 | DSP | c.3835G>A (p.Ala1279Thr) c.3582+253G>A (n.3582+253G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7580025G>C | CA362684959 | DSP | c.3835G>C (p.Ala1279Pro) c.3582+253G>C (n.3582+253G>C) | |
6 | g.7580025G= | CA1608615594 | DSP | c.3835G= (p.Ala1279=) c.3582+253G= (n.3582+253G=) | |
6 | g.7580025G>T | CA362684960 | DSP | c.3835G>T (p.Ala1279Ser) c.3582+253G>T (n.3582+253G>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.7580026C>A | CA362684961 | DSP | c.3836C>A (p.Ala1279Asp) c.3582+254C>A (n.3582+254C>A) | |
6 | g.7580026C= | CA1608615601 | DSP | c.3836C= (p.Ala1279=) c.3582+254C= (n.3582+254C=) | |
6 | g.7580026C>G | CA362684962 | DSP | c.3836C>G (p.Ala1279Gly) c.3582+254C>G (n.3582+254C>G) | |
6 | g.7580026C>T | CA039173 | DSP | c.3836C>T (p.Ala1279Val) c.3582+254C>T (n.3582+254C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7580027C>A | CA448715178 | DSP | c.3837C>A (p.Ala1279=) c.3582+255C>A (n.3582+255C>A) | |
6 | g.7580027C>G | CA448715182 | DSP | c.3837C>G (p.Ala1279=) c.3582+255C>G (n.3582+255C>G) | |
6 | g.7580027C>T | CA448715183 | DSP | c.3837C>T (p.Ala1279=) c.3582+255C>T (n.3582+255C>T) | COSMIC |
6 | g.7580028T>A | CA362684965 | DSP | c.3838T>A (p.Cys1280Ser) c.3582+256T>A (n.3582+256T>A) | |
6 | g.7580028T>C | CA362684964 | DSP | c.3838T>C (p.Cys1280Arg) c.3582+256T>C (n.3582+256T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.7580028T>G | CA362684963 | DSP | c.3838T>G (p.Cys1280Gly) c.3582+256T>G (n.3582+256T>G) | |
6 | g.7580028T= | CA1608615615 | DSP | c.3838T= (p.Cys1280=) c.3582+256T= (n.3582+256T=) | |
6 | g.7580029G>A | CA362684966 | DSP | c.3839G>A (p.Cys1280Tyr) c.3582+257G>A (n.3582+257G>A) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.7580029G>C | CA362684967 | DSP | c.3839G>C (p.Cys1280Ser) c.3582+257G>C (n.3582+257G>C) | |
6 | g.7580029G= | CA1608615619 | DSP | c.3839G= (p.Cys1280=) c.3582+257G= (n.3582+257G=) | |
6 | g.7580029G>T | CA362684968 | DSP | c.3839G>T (p.Cys1280Phe) c.3582+257G>T (n.3582+257G>T) | |
6 | g.7580030T>A | CA362684969 | DSP | c.3840T>A (p.Cys1280Ter) c.3582+258T>A (n.3582+258T>A) | |
6 | g.7580030T>C | CA448715190 | DSP | c.3840T>C (p.Cys1280=) c.3582+258T>C (n.3582+258T>C) | |
6 | g.7580030T>G | CA362684970 | DSP | c.3840T>G (p.Cys1280Trp) c.3582+258T>G (n.3582+258T>G) | |
6 | g.7580031G>A | CA362684971 | DSP | c.3841G>A (p.Gly1281Ser) c.3582+259G>A (n.3582+259G>A) | |
6 | g.7580031G>C | CA362684972 | DSP | c.3841G>C (p.Gly1281Arg) c.3582+259G>C (n.3582+259G>C) | |
6 | g.7580031G>T | CA362684973 | DSP | c.3841G>T (p.Gly1281Cys) c.3582+259G>T (n.3582+259G>T) | |
6 | g.7580032G>A | CA362684974 | DSP | c.3842G>A (p.Gly1281Asp) c.3582+260G>A (n.3582+260G>A) | ClinVar dbSNP gnomAD v4 |
6 | g.7580032G>C | CA039191 | DSP | c.3842G>C (p.Gly1281Ala) c.3582+260G>C (n.3582+260G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.7580032G= | CA1608615621 | DSP | c.3842G= (p.Gly1281=) c.3582+260G= (n.3582+260G=) | |
6 | g.7580032G>T | CA362684975 | DSP | c.3842G>T (p.Gly1281Val) c.3582+260G>T (n.3582+260G>T) | |
6 | g.7580033C>A | CA448715196 | DSP | c.3843C>A (p.Gly1281=) c.3582+261C>A (n.3582+261C>A) | gnomAD v4 |
6 | g.7580033C= | CA1608615629 | DSP | c.3843C= (p.Gly1281=) c.3582+261C= (n.3582+261C=) | |
6 | g.7580033C>G | CA448715195 | DSP | c.3843C>G (p.Gly1281=) c.3582+261C>G (n.3582+261C>G) | gnomAD v4 |
6 | g.7580033C>T | CA16605147 | DSP | c.3843C>T (p.Gly1281=) c.3582+261C>T (n.3582+261C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7580034T>A | CA362684976 | DSP | c.3844T>A (p.Ser1282Thr) c.3582+262T>A (n.3582+262T>A) | |
6 | g.7580034T>C | CA362684977 | DSP | c.3844T>C (p.Ser1282Pro) c.3582+262T>C (n.3582+262T>C) | |
6 | g.7580034T>G | CA362684978 | DSP | c.3844T>G (p.Ser1282Ala) c.3582+262T>G (n.3582+262T>G) | |
6 | g.7580035C>A | CA362684979 | DSP | c.3845C>A (p.Ser1282Tyr) c.3582+263C>A (n.3582+263C>A) | |
6 | g.7580035C= | CA1608615638 | DSP | c.3845C= (p.Ser1282=) c.3582+263C= (n.3582+263C=) | |
6 | g.7580035C>G | CA039211 | DSP | c.3845C>G (p.Ser1282Cys) c.3582+263C>G (n.3582+263C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7580035C>T | CA16612202 | DSP | c.3845C>T (p.Ser1282Phe) c.3582+263C>T (n.3582+263C>T) | ClinVar dbSNP gnomAD v4 |
6 | g.7580036T>A | CA448715202 | DSP | c.3846T>A (p.Ser1282=) c.3582+264T>A (n.3582+264T>A) | |
6 | g.7580036T>C | CA448715206 | DSP | c.3846T>C (p.Ser1282=) c.3582+264T>C (n.3582+264T>C) | ClinVar dbSNP gnomAD v4 |
6 | g.7580036T>G | CA448715209 | DSP | c.3846T>G (p.Ser1282=) c.3582+264T>G (n.3582+264T>G) | |
6 | g.7580037G>A | CA362684980 | DSP | c.3847G>A (p.Glu1283Lys) c.3582+265G>A (n.3582+265G>A) | gnomAD v4 |
6 | g.7580037G>C | CA362684981 | DSP | c.3847G>C (p.Glu1283Gln) c.3582+265G>C (n.3582+265G>C) | |
6 | g.7580037G>T | CA362684982 | DSP | c.3847G>T (p.Glu1283Ter) c.3582+265G>T (n.3582+265G>T) | |
6 | g.7580038A= | CA1608615646 | DSP | c.3848A= (p.Glu1283=) c.3582+266A= (n.3582+266A=) | |
6 | g.7580038A>C | CA039231 | DSP | c.3848A>C (p.Glu1283Ala) c.3582+266A>C (n.3582+266A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.7580038A>G | CA362684983 | DSP | c.3848A>G (p.Glu1283Gly) c.3582+266A>G (n.3582+266A>G) | |
6 | g.7580038A>T | CA362684984 | DSP | c.3848A>T (p.Glu1283Val) c.3582+266A>T (n.3582+266A>T) | |
6 | g.7580039G>A | CA448715224 | DSP | c.3849G>A (p.Glu1283=) c.3582+267G>A (n.3582+267G>A) | ClinVar dbSNP gnomAD v4 |
6 | g.7580039G>C | CA362684985 | DSP | c.3849G>C (p.Glu1283Asp) c.3582+267G>C (n.3582+267G>C) | |
6 | g.7580039G>T | CA362684986 | DSP | c.3849G>T (p.Glu1283Asp) c.3582+267G>T (n.3582+267G>T) | |
6 | g.7580040del | CA2580075405 | DSP | c.3850del (p.Ile1284Ter) c.3582+268del (n.3582+268del) | ClinVar |
6 | g.7580040A>C | CA362684987 | DSP | c.3850A>C (p.Ile1284Leu) c.3582+268A>C (n.3582+268A>C) | |
6 | g.7580040A>G | CA362684988 | DSP | c.3850A>G (p.Ile1284Val) c.3582+268A>G (n.3582+268A>G) | |
6 | g.7580040A>T | CA362684989 | DSP | c.3850A>T (p.Ile1284Leu) c.3582+268A>T (n.3582+268A>T) | |
6 | g.7580041T>A | CA362684990 | DSP | c.3851T>A (p.Ile1284Lys) c.3582+269T>A (n.3582+269T>A) | |
6 | g.7580041T>C | CA362684992 | DSP | c.3851T>C (p.Ile1284Thr) c.3582+269T>C (n.3582+269T>C) | gnomAD v4 |
6 | g.7580041T>G | CA362684991 | DSP | c.3851T>G (p.Ile1284Arg) c.3582+269T>G (n.3582+269T>G) | |
6 | g.7580042A>C | CA448715229 | DSP | c.3852A>C (p.Ile1284=) c.3582+270A>C (n.3582+270A>C) | |
6 | g.7580042A>G | CA362684993 | DSP | c.3852A>G (p.Ile1284Met) c.3582+270A>G (n.3582+270A>G) | |
6 | g.7580042A>T | CA448715231 | DSP | c.3852A>T (p.Ile1284=) c.3582+270A>T (n.3582+270A>T) | |
6 | g.7580043A>C | CA362684994 | DSP | c.3853A>C (p.Met1285Leu) c.3582+271A>C (n.3582+271A>C) | |
6 | g.7580043A>G | CA362684995 | DSP | c.3853A>G (p.Met1285Val) c.3582+271A>G (n.3582+271A>G) | |
6 | g.7580043A>T | CA362684996 | DSP | c.3853A>T (p.Met1285Leu) c.3582+271A>T (n.3582+271A>T) | |
6 | g.7580044T>A | CA362684997 | DSP | c.3854T>A (p.Met1285Lys) c.3582+272T>A (n.3582+272T>A) | |
6 | g.7580044T>C | CA362684998 | DSP | c.3854T>C (p.Met1285Thr) c.3582+272T>C (n.3582+272T>C) | |
6 | g.7580044T>G | CA362684999 | DSP | c.3854T>G (p.Met1285Arg) c.3582+272T>G (n.3582+272T>G) | ClinVar dbSNP |
6 | g.7580044T= | CA1608615651 | DSP | c.3854T= (p.Met1285=) c.3582+272T= (n.3582+272T=) | |
6 | g.7580045G>A | CA362685000 | DSP | c.3855G>A (p.Met1285Ile) c.3582+273G>A (n.3582+273G>A) | |
6 | g.7580045G>C | CA362685001 | DSP | c.3855G>C (p.Met1285Ile) c.3582+273G>C (n.3582+273G>C) | |
6 | g.7580045G>T | CA362685002 | DSP | c.3855G>T (p.Met1285Ile) c.3582+273G>T (n.3582+273G>T) | |
6 | g.7580046C>A | CA362685003 | DSP | c.3856C>A (p.Gln1286Lys) c.3582+274C>A (n.3582+274C>A) | |
6 | g.7580046C>G | CA362685004 | DSP | c.3856C>G (p.Gln1286Glu) c.3582+274C>G (n.3582+274C>G) | |
6 | g.7580046C>T | CA362685005 | DSP | c.3856C>T (p.Gln1286Ter) c.3582+274C>T (n.3582+274C>T) | ClinVar |
6 | g.7580046_7580049delinsCAGA | CA1608615659 | DSP | c.3856_3859delinsCAGA (p.Gln1286=) c.3582+274_3582+277delinsCAGA (n.3582+274_3582+277delinsCAGA) | |
6 | g.7580047A>C | CA362685008 | DSP | c.3857A>C (p.Gln1286Pro) c.3582+275A>C (n.3582+275A>C) | |
6 | g.7580047A>G | CA362685007 | DSP | c.3857A>G (p.Gln1286Arg) c.3582+275A>G (n.3582+275A>G) | |
6 | g.7580047A>T | CA362685006 | DSP | c.3857A>T (p.Gln1286Leu) c.3582+275A>T (n.3582+275A>T) | COSMIC |
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.7580048G>A | CA448715237 | DSP | c.3858G>A (p.Gln1286=) c.3582+276G>A (n.3582+276G>A) | |
6 | g.7580048G>C | CA362685009 | DSP | c.3858G>C (p.Gln1286His) c.3582+276G>C (n.3582+276G>C) | |
6 | g.7580048G>T | CA362685010 | DSP | c.3858G>T (p.Gln1286His) c.3582+276G>T (n.3582+276G>T) | |
6 | g.7580048_7580049insGG | CA2580075406 | DSP | c.3858_3859insGG (p.Lys1287GlyfsTer8) c.3582+276_3582+277insGG (n.3582+276_3582+277insGG) | ClinVar |
6 | g.7580049A>C | CA362685011 | DSP | c.3859A>C (p.Lys1287Gln) c.3582+277A>C (n.3582+277A>C) | |
6 | g.7580049A>G | CA362685012 | DSP | c.3859A>G (p.Lys1287Glu) c.3582+277A>G (n.3582+277A>G) | gnomAD v4 |
6 | g.7580049A>T | CA362685013 | DSP | c.3859A>T (p.Lys1287Ter) c.3582+277A>T (n.3582+277A>T) | |
6 | g.7580050A>C | CA362685016 | DSP | c.3860A>C (p.Lys1287Thr) c.3582+278A>C (n.3582+278A>C) | |
6 | g.7580050A>G | CA362685014 | DSP | c.3860A>G (p.Lys1287Arg) c.3582+278A>G (n.3582+278A>G) | |
6 | g.7580050A>T | CA362685015 | DSP | c.3860A>T (p.Lys1287Met) c.3582+278A>T (n.3582+278A>T) | |
6 | g.7580051del | CA2740090878 | DSP | c.3861del (p.Lys1288SerfsTer6) c.3582+279del (n.3582+279del) | ClinVar |
6 | g.7580051G>A | CA448715248 | DSP | c.3861G>A (p.Lys1287=) c.3582+279G>A (n.3582+279G>A) | |
6 | g.7580051G>C | CA362685017 | DSP | c.3861G>C (p.Lys1287Asn) c.3582+279G>C (n.3582+279G>C) | |
6 | g.7580051G>T | CA362685018 | DSP | c.3861G>T (p.Lys1287Asn) c.3582+279G>T (n.3582+279G>T) | |
6 | g.7580052A= | CA1608615667 | DSP | c.3862A= (p.Lys1288=) c.3582+280A= (n.3582+280A=) | |
6 | g.7580052A>C | CA004279 | DSP | c.3862A>C (p.Lys1288Gln) c.3582+280A>C (n.3582+280A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7580052A>G | CA362685019 | DSP | c.3862A>G (p.Lys1288Glu) c.3582+280A>G (n.3582+280A>G) | |
6 | g.7580052A>T | CA039292 | DSP | c.3862A>T (p.Lys1288Ter) c.3582+280A>T (n.3582+280A>T) | dbSNP ExAC gnomAD v2 |
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) |