UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.7579956C>A | CA362684807 | DSP | c.3766C>A (p.Leu1256Ile) c.3582+184C>A (n.3582+184C>A) | COSMIC |
| 6 | g.7579956C= | CA1608615327 | DSP | c.3766C= (p.Leu1256=) c.3582+184C= (n.3582+184C=) | |
| 6 | g.7579956C>G | CA362684808 | DSP | c.3766C>G (p.Leu1256Val) c.3582+184C>G (n.3582+184C>G) | |
| 6 | g.7579956C>T | CA038972 | DSP | c.3766C>T (p.Leu1256Phe) c.3582+184C>T (n.3582+184C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7579957T>A | CA362684809 | DSP | c.3767T>A (p.Leu1256His) c.3582+185T>A (n.3582+185T>A) | gnomAD v4 |
| 6 | g.7579957T>C | CA362684810 | DSP | c.3767T>C (p.Leu1256Pro) c.3582+185T>C (n.3582+185T>C) | ClinVar |
| 6 | g.7579957T>G | CA362684811 | DSP | c.3767T>G (p.Leu1256Arg) c.3582+185T>G (n.3582+185T>G) | |
| 6 | g.7579958C>A | CA448714787 | DSP | c.3768C>A (p.Leu1256=) c.3582+186C>A (n.3582+186C>A) | |
| 6 | g.7579958C= | CA1608615333 | DSP | c.3768C= (p.Leu1256=) c.3582+186C= (n.3582+186C=) | |
| 6 | g.7579958C>G | CA448714788 | DSP | c.3768C>G (p.Leu1256=) c.3582+186C>G (n.3582+186C>G) | |
| 6 | g.7579958C>T | CA133968739 | DSP | c.3768C>T (p.Leu1256=) c.3582+186C>T (n.3582+186C>T) | dbSNP |
| 6 | g.7579959A>C | CA362684812 | DSP | c.3769A>C (p.Asn1257His) c.3582+187A>C (n.3582+187A>C) | |
| 6 | g.7579959A>G | CA362684813 | DSP | c.3769A>G (p.Asn1257Asp) c.3582+187A>G (n.3582+187A>G) | |
| 6 | g.7579959A>T | CA362684814 | DSP | c.3769A>T (p.Asn1257Tyr) c.3582+187A>T (n.3582+187A>T) | |
| 6 | g.7579960A= | CA1608615336 | DSP | c.3770A= (p.Asn1257=) c.3582+188A= (n.3582+188A=) | |
| 6 | g.7579960A>C | CA362684815 | DSP | c.3770A>C (p.Asn1257Thr) c.3582+188A>C (n.3582+188A>C) | |
| 6 | g.7579960A>G | CA362684816 | DSP | c.3770A>G (p.Asn1257Ser) c.3582+188A>G (n.3582+188A>G) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7579960A>T | CA362684817 | DSP | c.3770A>T (p.Asn1257Ile) c.3582+188A>T (n.3582+188A>T) | |
| 6 | g.7579961T>A | CA362684818 | DSP | c.3771T>A (p.Asn1257Lys) c.3582+189T>A (n.3582+189T>A) | gnomAD v4 |
| 6 | g.7579961T>C | CA448714791 | DSP | c.3771T>C (p.Asn1257=) c.3582+189T>C (n.3582+189T>C) | gnomAD v4 |
| 6 | g.7579961T>G | CA362684819 | DSP | c.3771T>G (p.Asn1257Lys) c.3582+189T>G (n.3582+189T>G) | |
| 6 | g.7579962G>A | CA362684822 | DSP | c.3772G>A (p.Asp1258Asn) c.3582+190G>A (n.3582+190G>A) | |
| 6 | g.7579962G>C | CA362684820 | DSP | c.3772G>C (p.Asp1258His) c.3582+190G>C (n.3582+190G>C) | |
| 6 | g.7579962G>T | CA362684821 | DSP | c.3772G>T (p.Asp1258Tyr) c.3582+190G>T (n.3582+190G>T) | COSMIC |
| 6 | g.7579963A>C | CA362684823 | DSP | c.3773A>C (p.Asp1258Ala) c.3582+191A>C (n.3582+191A>C) | |
| 6 | g.7579963A>G | CA362684824 | DSP | c.3773A>G (p.Asp1258Gly) c.3582+191A>G (n.3582+191A>G) | |
| 6 | g.7579963A>T | CA362684825 | DSP | c.3773A>T (p.Asp1258Val) c.3582+191A>T (n.3582+191A>T) | |
| 6 | g.7579964C>A | CA038986 | DSP | c.3774C>A (p.Asp1258Glu) c.3582+192C>A (n.3582+192C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7579964C= | CA1608615345 | DSP | c.3774C= (p.Asp1258=) c.3582+192C= (n.3582+192C=) | |
| 6 | g.7579964C>G | CA362684826 | DSP | c.3774C>G (p.Asp1258Glu) c.3582+192C>G (n.3582+192C>G) | |
| 6 | g.7579964C>T | CA448714800 | DSP | c.3774C>T (p.Asp1258=) c.3582+192C>T (n.3582+192C>T) | |
| 6 | g.7579965A= | CA1608615361 | DSP | c.3775A= (p.Ser1259=) c.3582+193A= (n.3582+193A=) | |
| 6 | g.7579965A>C | CA362684827 | DSP | c.3775A>C (p.Ser1259Arg) c.3582+193A>C (n.3582+193A>C) | |
| 6 | g.7579965A>G | CA039000 | DSP | c.3775A>G (p.Ser1259Gly) c.3582+193A>G (n.3582+193A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7579965A>T | CA362684828 | DSP | c.3775A>T (p.Ser1259Cys) c.3582+193A>T (n.3582+193A>T) | |
| 6 | g.7579966G>A | CA362684829 | DSP | c.3776G>A (p.Ser1259Asn) c.3582+194G>A (n.3582+194G>A) | gnomAD v4 |
| 6 | g.7579966G>C | CA362684831 | DSP | c.3776G>C (p.Ser1259Thr) c.3582+194G>C (n.3582+194G>C) | |
| 6 | g.7579966G>T | CA362684830 | DSP | c.3776G>T (p.Ser1259Ile) c.3582+194G>T (n.3582+194G>T) | |
| 6 | g.7579967C>A | CA362684832 | DSP | c.3777C>A (p.Ser1259Arg) c.3582+195C>A (n.3582+195C>A) | |
| 6 | g.7579967C>G | CA362684833 | DSP | c.3777C>G (p.Ser1259Arg) c.3582+195C>G (n.3582+195C>G) | |
| 6 | g.7579967C>T | CA448714805 | DSP | c.3777C>T (p.Ser1259=) c.3582+195C>T (n.3582+195C>T) | gnomAD v4 |
| 6 | g.7579968A>C | CA362684834 | DSP | c.3778A>C (p.Ile1260Leu) c.3582+196A>C (n.3582+196A>C) | |
| 6 | g.7579968A>G | CA362684835 | DSP | c.3778A>G (p.Ile1260Val) c.3582+196A>G (n.3582+196A>G) | |
| 6 | g.7579968A>T | CA362684836 | DSP | c.3778A>T (p.Ile1260Phe) c.3582+196A>T (n.3582+196A>T) | ClinVar |
| 6 | g.7579969T>A | CA362684837 | DSP | c.3779T>A (p.Ile1260Asn) c.3582+197T>A (n.3582+197T>A) | |
| 6 | g.7579969T>C | CA362684839 | DSP | c.3779T>C (p.Ile1260Thr) c.3582+197T>C (n.3582+197T>C) | |
| 6 | g.7579969T>G | CA362684838 | DSP | c.3779T>G (p.Ile1260Ser) c.3582+197T>G (n.3582+197T>G) | |
| 6 | g.7579970C>A | CA448714813 | DSP | c.3780C>A (p.Ile1260=) c.3582+198C>A (n.3582+198C>A) | |
| 6 | g.7579970C>G | CA362684840 | DSP | c.3780C>G (p.Ile1260Met) c.3582+198C>G (n.3582+198C>G) | |
| 6 | g.7579970C>T | CA448714814 | DSP | c.3780C>T (p.Ile1260=) c.3582+198C>T (n.3582+198C>T) | ClinVar dbSNP |
| 6 | g.7579971T>A | CA362684841 | DSP | c.3781T>A (p.Leu1261Met) c.3582+199T>A (n.3582+199T>A) | |
| 6 | g.7579971T>C | CA039012 | DSP | c.3781T>C (p.Leu1261=) c.3582+199T>C (n.3582+199T>C) | dbSNP ExAC gnomAD v4 |
| 6 | g.7579971T>G | CA362684842 | DSP | c.3781T>G (p.Leu1261Val) c.3582+199T>G (n.3582+199T>G) | |
| 6 | g.7579971T= | CA1608615365 | DSP | c.3781T= (p.Leu1261=) c.3582+199T= (n.3582+199T=) | |
| 6 | g.7579972T>A | CA362684843 | DSP | c.3782T>A (p.Leu1261Ter) c.3582+200T>A (n.3582+200T>A) | |
| 6 | g.7579972T>C | CA362684844 | DSP | c.3782T>C (p.Leu1261Ser) c.3582+200T>C (n.3582+200T>C) | |
| 6 | g.7579972T>G | CA362684845 | DSP | c.3782T>G (p.Leu1261Trp) c.3582+200T>G (n.3582+200T>G) | |
| 6 | g.7579973G>A | CA448714819 | DSP | c.3783G>A (p.Leu1261=) c.3582+201G>A (n.3582+201G>A) | |
| 6 | g.7579973G>C | CA362684846 | DSP | c.3783G>C (p.Leu1261Phe) c.3582+201G>C (n.3582+201G>C) | |
| 6 | g.7579973G>T | CA362684847 | DSP | c.3783G>T (p.Leu1261Phe) c.3582+201G>T (n.3582+201G>T) | |
| 6 | g.7579974C>A | CA362684848 | DSP | c.3784C>A (p.Gln1262Lys) c.3582+202C>A (n.3582+202C>A) | |
| 6 | g.7579974C>G | CA362684849 | DSP | c.3784C>G (p.Gln1262Glu) c.3582+202C>G (n.3582+202C>G) | ClinVar dbSNP |
| 6 | g.7579974C>T | CA362684850 | DSP | c.3784C>T (p.Gln1262Ter) c.3582+202C>T (n.3582+202C>T) | ClinVar dbSNP |
| 6 | g.7579975A>C | CA362684851 | DSP | c.3785A>C (p.Gln1262Pro) c.3582+203A>C (n.3582+203A>C) | |
| 6 | g.7579975A>G | CA362684853 | DSP | c.3785A>G (p.Gln1262Arg) c.3582+203A>G (n.3582+203A>G) | |
| 6 | g.7579975A>T | CA362684852 | DSP | c.3785A>T (p.Gln1262Leu) c.3582+203A>T (n.3582+203A>T) | |
| 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.7579976G>A | CA448714824 | DSP | c.3786G>A (p.Gln1262=) c.3582+204G>A (n.3582+204G>A) | |
| 6 | g.7579976G>C | CA362684854 | DSP | c.3786G>C (p.Gln1262His) c.3582+204G>C (n.3582+204G>C) | |
| 6 | g.7579976G>T | CA362684855 | DSP | c.3786G>T (p.Gln1262His) c.3582+204G>T (n.3582+204G>T) | |
| 6 | g.7579977G>A | CA362684856 | DSP | c.3787G>A (p.Ala1263Thr) c.3582+205G>A (n.3582+205G>A) | gnomAD v3 gnomAD v4 |
| 6 | g.7579977G>C | CA133968749 | DSP | c.3787G>C (p.Ala1263Pro) c.3582+205G>C (n.3582+205G>C) | dbSNP gnomAD v4 |
| 6 | g.7579977G= | CA1608615369 | DSP | c.3787G= (p.Ala1263=) c.3582+205G= (n.3582+205G=) | |
| 6 | g.7579977G>T | CA362684857 | DSP | c.3787G>T (p.Ala1263Ser) c.3582+205G>T (n.3582+205G>T) | |
| 6 | g.7579978C>A | CA362684858 | DSP | c.3788C>A (p.Ala1263Asp) c.3582+206C>A (n.3582+206C>A) | ClinVar dbSNP |
| 6 | g.7579978C= | CA1608615395 | DSP | c.3788C= (p.Ala1263=) c.3582+206C= (n.3582+206C=) | |
| 6 | g.7579978C>G | CA362684859 | DSP | c.3788C>G (p.Ala1263Gly) c.3582+206C>G (n.3582+206C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7579978C>T | CA362684860 | DSP | c.3788C>T (p.Ala1263Val) c.3582+206C>T (n.3582+206C>T) | ClinVar |
| 6 | g.7579978_7579979dup | CA658796712 | DSP | c.3788_3789dup (p.Thr1264ProfsTer22) c.3582+206_3582+207dup (n.3582+206_3582+207dup) | ClinVar dbSNP |
| 6 | g.7579979C>A | CA039028 | DSP | c.3789C>A (p.Ala1263=) c.3582+207C>A (n.3582+207C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7579979C= | CA1608615401 | DSP | c.3789C= (p.Ala1263=) c.3582+207C= (n.3582+207C=) | |
| 6 | g.7579979C>G | CA448714833 | DSP | c.3789C>G (p.Ala1263=) c.3582+207C>G (n.3582+207C>G) | |
| 6 | g.7579979C>T | CA448714835 | DSP | c.3789C>T (p.Ala1263=) c.3582+207C>T (n.3582+207C>T) | gnomAD v4 |
| 6 | g.7579980A= | CA1608615422 | DSP | c.3790A= (p.Thr1264=) c.3582+208A= (n.3582+208A=) | |
| 6 | g.7579980A>C | CA362684861 | DSP | c.3790A>C (p.Thr1264Pro) c.3582+208A>C (n.3582+208A>C) | |
| 6 | g.7579980A>G | CA362684862 | DSP | c.3790A>G (p.Thr1264Ala) c.3582+208A>G (n.3582+208A>G) | ClinVar |
| 6 | g.7579980A>T | CA362684863 | DSP | c.3790A>T (p.Thr1264Ser) c.3582+208A>T (n.3582+208A>T) | dbSNP gnomAD v2 |
| 6 | g.7579981C>A | CA362684866 | DSP | c.3791C>A (p.Thr1264Asn) c.3582+209C>A (n.3582+209C>A) | |
| 6 | g.7579981C>G | CA362684865 | DSP | c.3791C>G (p.Thr1264Ser) c.3582+209C>G (n.3582+209C>G) | |
| 6 | g.7579981C>T | CA362684864 | DSP | c.3791C>T (p.Thr1264Ile) c.3582+209C>T (n.3582+209C>T) | |
| 6 | g.7579982T>A | CA039035 | DSP | c.3792T>A (p.Thr1264=) c.3582+210T>A (n.3582+210T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7579982T>C | CA448715040 | DSP | c.3792T>C (p.Thr1264=) c.3582+210T>C (n.3582+210T>C) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7579982T>G | CA448715042 | DSP | c.3792T>G (p.Thr1264=) c.3582+210T>G (n.3582+210T>G) | |
| 6 | g.7579982T= | CA1608615428 | DSP | c.3792T= (p.Thr1264=) c.3582+210T= (n.3582+210T=) | |
| 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.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.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) |