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 |
|---|---|---|---|---|---|
| 8 | g.1858064T>A | CA369954963 | ARHGEF10 | c.142T>A (p.Ser48Thr) c.601T>A c.*93T>A (n.*93T>A) c.532T>A c.214T>A (p.Ser72Thr) c.97T>A (p.Ser33Thr) c.226T>A (p.Ser76Thr) | |
| 8 | g.1858064T>C | CA369954964 | ARHGEF10 | c.142T>C (p.Ser48Pro) c.601T>C c.*93T>C (n.*93T>C) c.532T>C c.214T>C (p.Ser72Pro) c.97T>C (p.Ser33Pro) c.226T>C (p.Ser76Pro) | |
| 8 | g.1858064T>G | CA369954965 | ARHGEF10 | c.142T>G (p.Ser48Ala) c.601T>G c.*93T>G (n.*93T>G) c.532T>G c.214T>G (p.Ser72Ala) c.97T>G (p.Ser33Ala) c.226T>G (p.Ser76Ala) | |
| 8 | g.1858065C>A | CA369954968 | ARHGEF10 | c.143C>A (p.Ser48Tyr) c.602C>A c.*94C>A (n.*94C>A) c.533C>A c.215C>A (p.Ser72Tyr) c.98C>A (p.Ser33Tyr) c.227C>A (p.Ser76Tyr) | |
| 8 | g.1858065C= | CA1757725872 | ARHGEF10 | c.143C= (p.Ser48=) c.602C= c.*94C= (n.*94C=) c.533C= c.215C= (p.Ser72=) c.98C= (p.Ser33=) c.227C= (p.Ser76=) | |
| 8 | g.1858065C>G | CA369954967 | ARHGEF10 | c.143C>G (p.Ser48Cys) c.602C>G c.*94C>G (n.*94C>G) c.533C>G c.215C>G (p.Ser72Cys) c.98C>G (p.Ser33Cys) c.227C>G (p.Ser76Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.1858065C>T | CA369954966 | ARHGEF10 | c.143C>T (p.Ser48Phe) c.602C>T c.*94C>T (n.*94C>T) c.533C>T c.215C>T (p.Ser72Phe) c.98C>T (p.Ser33Phe) c.227C>T (p.Ser76Phe) | |
| 8 | g.1858066C>A | CA459054488 | ARHGEF10 | c.144C>A (p.Ser48=) c.603C>A c.*95C>A (n.*95C>A) c.534C>A c.216C>A (p.Ser72=) c.99C>A (p.Ser33=) c.228C>A (p.Ser76=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 8 | g.1858066C= | CA1757725877 | ARHGEF10 | c.144C= (p.Ser48=) c.603C= c.*95C= (n.*95C=) c.534C= c.216C= (p.Ser72=) c.99C= (p.Ser33=) c.228C= (p.Ser76=) | |
| 8 | g.1858066C>G | CA459054486 | ARHGEF10 | c.144C>G (p.Ser48=) c.603C>G c.*95C>G (n.*95C>G) c.534C>G c.216C>G (p.Ser72=) c.99C>G (p.Ser33=) c.228C>G (p.Ser76=) | |
| 8 | g.1858066C>T | CA4599605 | ARHGEF10 | c.144C>T (p.Ser48=) c.603C>T c.*95C>T (n.*95C>T) c.534C>T c.216C>T (p.Ser72=) c.99C>T (p.Ser33=) c.228C>T (p.Ser76=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.1858067G>A | CA4599606 | ARHGEF10 | c.145G>A (p.Ala49Thr) c.604G>A c.*96G>A (n.*96G>A) c.535G>A c.217G>A (p.Ala73Thr) c.100G>A (p.Ala34Thr) c.229G>A (p.Ala77Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.1858067G>C | CA4599607 | ARHGEF10 | c.145G>C (p.Ala49Pro) c.604G>C c.*96G>C (n.*96G>C) c.535G>C c.217G>C (p.Ala73Pro) c.100G>C (p.Ala34Pro) c.229G>C (p.Ala77Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.1858067G= | CA1757725882 | ARHGEF10 | c.145G= (p.Ala49=) c.604G= c.*96G= (n.*96G=) c.535G= c.217G= (p.Ala73=) c.100G= (p.Ala34=) c.229G= (p.Ala77=) | |
| 8 | g.1858067G>T | CA369954969 | ARHGEF10 | c.145G>T (p.Ala49Ser) c.604G>T c.*96G>T (n.*96G>T) c.535G>T c.217G>T (p.Ala73Ser) c.100G>T (p.Ala34Ser) c.229G>T (p.Ala77Ser) | gnomAD v4 |
| 8 | g.1858068C>A | CA369954970 | ARHGEF10 | c.146C>A (p.Ala49Asp) c.605C>A c.*97C>A (n.*97C>A) c.536C>A c.218C>A (p.Ala73Asp) c.101C>A (p.Ala34Asp) c.230C>A (p.Ala77Asp) | |
| 8 | g.1858068C= | CA1757725886 | ARHGEF10 | c.146C= (p.Ala49=) c.605C= c.*97C= (n.*97C=) c.536C= c.218C= (p.Ala73=) c.101C= (p.Ala34=) c.230C= (p.Ala77=) | |
| 8 | g.1858068C>G | CA369954971 | ARHGEF10 | c.146C>G (p.Ala49Gly) c.605C>G c.*97C>G (n.*97C>G) c.536C>G c.218C>G (p.Ala73Gly) c.101C>G (p.Ala34Gly) c.230C>G (p.Ala77Gly) | |
| 8 | g.1858068C>T | CA4599608 | ARHGEF10 | c.146C>T (p.Ala49Val) c.605C>T c.*97C>T (n.*97C>T) c.536C>T c.218C>T (p.Ala73Val) c.101C>T (p.Ala34Val) c.230C>T (p.Ala77Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.1858069C>A | CA170588672 | ARHGEF10 | c.147C>A (p.Ala49=) c.606C>A c.*98C>A (n.*98C>A) c.537C>A c.219C>A (p.Ala73=) c.102C>A (p.Ala34=) c.231C>A (p.Ala77=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.1858069C= | CA1757725889 | ARHGEF10 | c.147C= (p.Ala49=) c.606C= c.*98C= (n.*98C=) c.537C= c.219C= (p.Ala73=) c.102C= (p.Ala34=) c.231C= (p.Ala77=) | |
| 8 | g.1858069C>G | CA459054499 | ARHGEF10 | c.147C>G (p.Ala49=) c.606C>G c.*98C>G (n.*98C>G) c.537C>G c.219C>G (p.Ala73=) c.102C>G (p.Ala34=) c.231C>G (p.Ala77=) | |
| 8 | g.1858069C>T | CA459054501 | ARHGEF10 | c.147C>T (p.Ala49=) c.606C>T c.*98C>T (n.*98C>T) c.537C>T c.219C>T (p.Ala73=) c.102C>T (p.Ala34=) c.231C>T (p.Ala77=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.1858070C>A | CA369954972 | ARHGEF10 | c.148C>A (p.Pro50Thr) c.607C>A c.*99C>A (n.*99C>A) c.538C>A c.220C>A (p.Pro74Thr) c.103C>A (p.Pro35Thr) c.232C>A (p.Pro78Thr) | gnomAD v4 |
| 8 | g.1858070C>G | CA369954973 | ARHGEF10 | c.148C>G (p.Pro50Ala) c.607C>G c.*99C>G (n.*99C>G) c.538C>G c.220C>G (p.Pro74Ala) c.103C>G (p.Pro35Ala) c.232C>G (p.Pro78Ala) | gnomAD v4 |
| 8 | g.1858070C>T | CA369954974 | ARHGEF10 | c.148C>T (p.Pro50Ser) c.607C>T c.*99C>T (n.*99C>T) c.538C>T c.220C>T (p.Pro74Ser) c.103C>T (p.Pro35Ser) c.232C>T (p.Pro78Ser) | gnomAD v4 |
| 8 | g.1858070_1858072delinsCCT | CA1757725894 | ARHGEF10 | c.148_150delinsCCT (p.Pro50=) c.607_609delinsCCT c.*99_*101delinsCCT (n.*99_*101delinsCCT) c.538_540delinsCCT c.220_222delinsCCT (p.Pro74=) c.103_105delinsCCT (p.Pro35=) c.232_234delinsCCT (p.Pro78=) | |
| 8 | g.1858071C>A | CA369954975 | ARHGEF10 | c.149C>A (p.Pro50His) c.608C>A c.*100C>A (n.*100C>A) c.539C>A c.221C>A (p.Pro74His) c.104C>A (p.Pro35His) c.233C>A (p.Pro78His) | |
| 8 | g.1858071C>G | CA369954976 | ARHGEF10 | c.149C>G (p.Pro50Arg) c.608C>G c.*100C>G (n.*100C>G) c.539C>G c.221C>G (p.Pro74Arg) c.104C>G (p.Pro35Arg) c.233C>G (p.Pro78Arg) | |
| 8 | g.1858071C>T | CA369954977 | ARHGEF10 | c.149C>T (p.Pro50Leu) c.608C>T c.*100C>T (n.*100C>T) c.539C>T c.221C>T (p.Pro74Leu) c.104C>T (p.Pro35Leu) c.233C>T (p.Pro78Leu) | |
| 8 | g.1858071_1858072del | CA1757725896 | ARHGEF10 | c.149_150del (p.Pro50ArgfsTer9) c.608_609del c.*100_*101del (n.*100_*101del) c.539_540del c.221_222del (p.Pro74ArgfsTer9) c.104_105del (p.Pro35ArgfsTer9) c.233_234del (p.Pro78ArgfsTer9) | dbSNP gnomAD v4 |
| 8 | g.1858072T>A | CA459054510 | ARHGEF10 | c.150T>A (p.Pro50=) c.609T>A c.*101T>A (n.*101T>A) c.540T>A c.222T>A (p.Pro74=) c.105T>A (p.Pro35=) c.234T>A (p.Pro78=) | |
| 8 | g.1858072T>C | CA459054514 | ARHGEF10 | c.150T>C (p.Pro50=) c.609T>C c.*101T>C (n.*101T>C) c.540T>C c.222T>C (p.Pro74=) c.105T>C (p.Pro35=) c.234T>C (p.Pro78=) | |
| 8 | g.1858072T>G | CA459054512 | ARHGEF10 | c.150T>G (p.Pro50=) c.609T>G c.*101T>G (n.*101T>G) c.540T>G c.222T>G (p.Pro74=) c.105T>G (p.Pro35=) c.234T>G (p.Pro78=) | gnomAD v4 |
| 8 | g.1858073G>A | CA4599609 | ARHGEF10 | c.151G>A (p.Glu51Lys) c.610G>A c.*102G>A (n.*102G>A) c.541G>A c.223G>A (p.Glu75Lys) c.106G>A (p.Glu36Lys) c.235G>A (p.Glu79Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.1858073G>C | CA369954979 | ARHGEF10 | c.151G>C (p.Glu51Gln) c.610G>C c.*102G>C (n.*102G>C) c.541G>C c.223G>C (p.Glu75Gln) c.106G>C (p.Glu36Gln) c.235G>C (p.Glu79Gln) | |
| 8 | g.1858073G= | CA1757725899 | ARHGEF10 | c.151G= (p.Glu51=) c.610G= c.*102G= (n.*102G=) c.541G= c.223G= (p.Glu75=) c.106G= (p.Glu36=) c.235G= (p.Glu79=) | |
| 8 | g.1858073G>T | CA369954978 | ARHGEF10 | c.151G>T (p.Glu51Ter) c.610G>T c.*102G>T (n.*102G>T) c.541G>T c.223G>T (p.Glu75Ter) c.106G>T (p.Glu36Ter) c.235G>T (p.Glu79Ter) | gnomAD v4 |
| 8 | g.1858074A>C | CA369954980 | ARHGEF10 | c.152A>C (p.Glu51Ala) c.611A>C c.*103A>C (n.*103A>C) c.542A>C c.224A>C (p.Glu75Ala) c.107A>C (p.Glu36Ala) c.236A>C (p.Glu79Ala) | gnomAD v4 |
| 8 | g.1858074A>G | CA369954981 | ARHGEF10 | c.152A>G (p.Glu51Gly) c.611A>G c.*103A>G (n.*103A>G) c.542A>G c.224A>G (p.Glu75Gly) c.107A>G (p.Glu36Gly) c.236A>G (p.Glu79Gly) | gnomAD v4 |
| 8 | g.1858074A>T | CA369954982 | ARHGEF10 | c.152A>T (p.Glu51Val) c.611A>T c.*103A>T (n.*103A>T) c.542A>T c.224A>T (p.Glu75Val) c.107A>T (p.Glu36Val) c.236A>T (p.Glu79Val) | |
| 8 | g.1858075G>A | CA459054522 | ARHGEF10 | c.153G>A (p.Glu51=) c.612G>A c.*104G>A (n.*104G>A) c.543G>A c.225G>A (p.Glu75=) c.108G>A (p.Glu36=) c.237G>A (p.Glu79=) | gnomAD v4 |
| 8 | g.1858075G>C | CA369954983 | ARHGEF10 | c.153G>C (p.Glu51Asp) c.612G>C c.*104G>C (n.*104G>C) c.543G>C c.225G>C (p.Glu75Asp) c.108G>C (p.Glu36Asp) c.237G>C (p.Glu79Asp) | |
| 8 | g.1858075G>T | CA369954984 | ARHGEF10 | c.153G>T (p.Glu51Asp) c.612G>T c.*104G>T (n.*104G>T) c.543G>T c.225G>T (p.Glu75Asp) c.108G>T (p.Glu36Asp) c.237G>T (p.Glu79Asp) | |
| 8 | g.1858076A= | CA1757725903 | ARHGEF10 | c.154A= (p.Thr52=) c.613A= c.*105A= (n.*105A=) c.544A= c.226A= (p.Thr76=) c.109A= (p.Thr37=) c.238A= (p.Thr80=) | |
| 8 | g.1858076A>C | CA369954985 | ARHGEF10 | c.154A>C (p.Thr52Pro) c.613A>C c.*105A>C (n.*105A>C) c.544A>C c.226A>C (p.Thr76Pro) c.109A>C (p.Thr37Pro) c.238A>C (p.Thr80Pro) | |
| 8 | g.1858076A>G | CA369954986 | ARHGEF10 | c.154A>G (p.Thr52Ala) c.613A>G c.*105A>G (n.*105A>G) c.544A>G c.226A>G (p.Thr76Ala) c.109A>G (p.Thr37Ala) c.238A>G (p.Thr80Ala) | |
| 8 | g.1858076A>T | CA369954987 | ARHGEF10 | c.154A>T (p.Thr52Ser) c.613A>T c.*105A>T (n.*105A>T) c.544A>T c.226A>T (p.Thr76Ser) c.109A>T (p.Thr37Ser) c.238A>T (p.Thr80Ser) | dbSNP |
| 8 | g.1858077C>A | CA369954988 | ARHGEF10 | c.155C>A (p.Thr52Lys) c.614C>A c.*106C>A (n.*106C>A) c.545C>A c.227C>A (p.Thr76Lys) c.110C>A (p.Thr37Lys) c.239C>A (p.Thr80Lys) | |
| 8 | g.1858077C= | CA1757725906 | ARHGEF10 | c.155C= (p.Thr52=) c.614C= c.*106C= (n.*106C=) c.545C= c.227C= (p.Thr76=) c.110C= (p.Thr37=) c.239C= (p.Thr80=) |