Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.7579509C>A | CA362683666 | DSP | c.3319C>A (p.Leu1107Ile) | |
6 | g.7579509C= | CA1608614050 | DSP | c.3319C= (p.Leu1107=) | |
6 | g.7579509C>G | CA362683667 | DSP | c.3319C>G (p.Leu1107Val) | |
6 | g.7579509C>T | CA362683669 | DSP | c.3319C>T (p.Leu1107Phe) | ClinVar dbSNP |
6 | g.7579510T>A | CA362683672 | DSP | c.3320T>A (p.Leu1107His) | |
6 | g.7579510T>C | CA362683670 | DSP | c.3320T>C (p.Leu1107Pro) | |
6 | g.7579510T>G | CA362683671 | DSP | c.3320T>G (p.Leu1107Arg) | |
6 | g.7579511C>A | CA448714399 | DSP | c.3321C>A (p.Leu1107=) | |
6 | g.7579511C>G | CA448714400 | DSP | c.3321C>G (p.Leu1107=) | ClinVar |
6 | g.7579511C>T | CA448714401 | DSP | c.3321C>T (p.Leu1107=) | ClinVar |
6 | g.7579512A>C | CA362683674 | DSP | c.3322A>C (p.Asn1108His) | |
6 | g.7579512A>G | CA362683675 | DSP | c.3322A>G (p.Asn1108Asp) | |
6 | g.7579512A>T | CA362683677 | DSP | c.3322A>T (p.Asn1108Tyr) | |
6 | g.7579513A= | CA1608614054 | DSP | c.3323A= (p.Asn1108=) | |
6 | g.7579513A>C | CA362683679 | DSP | c.3323A>C (p.Asn1108Thr) | |
6 | g.7579513A>G | CA037774 | DSP | c.3323A>G (p.Asn1108Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.7579513A>T | CA362683681 | DSP | c.3323A>T (p.Asn1108Ile) | |
6 | g.7579514T>A | CA362683683 | DSP | c.3324T>A (p.Asn1108Lys) | |
6 | g.7579514T>C | CA448714402 | DSP | c.3324T>C (p.Asn1108=) | |
6 | g.7579514T>G | CA362683684 | DSP | c.3324T>G (p.Asn1108Lys) | |
6 | g.7579515G>A | CA037790 | DSP | c.3325G>A (p.Glu1109Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7579515G>C | CA362683686 | DSP | c.3325G>C (p.Glu1109Gln) | |
6 | g.7579515G= | CA1608614060 | DSP | c.3325G= (p.Glu1109=) | |
6 | g.7579515G>T | CA362683687 | DSP | c.3325G>T (p.Glu1109Ter) | |
6 | g.7579516A>C | CA362683688 | DSP | c.3326A>C (p.Glu1109Ala) | |
6 | g.7579516A>G | CA362683692 | DSP | c.3326A>G (p.Glu1109Gly) | |
6 | g.7579516A>T | CA362683690 | DSP | c.3326A>T (p.Glu1109Val) | |
6 | g.7579519_7579521del | CA2695206003 | DSP | c.3329_3331del (p.Lys1110del) | |
6 | g.7579517G>A | CA448714405 | DSP | c.3327G>A (p.Glu1109=) | gnomAD v4 |
6 | g.7579517G>C | CA362683693 | DSP | c.3327G>C (p.Glu1109Asp) | |
6 | g.7579517G>T | CA362683695 | DSP | c.3327G>T (p.Glu1109Asp) | |
6 | g.7579518A>C | CA362683697 | DSP | c.3328A>C (p.Lys1110Gln) | |
6 | g.7579518A>G | CA362683699 | DSP | c.3328A>G (p.Lys1110Glu) | gnomAD v4 |
6 | g.7579518A>T | CA362683700 | DSP | c.3328A>T (p.Lys1110Ter) | |
6 | g.7579519del | CA2677225879 | DSP | c.3329del (p.Lys1110ArgfsTer5) | gnomAD v4 |
6 | g.7579519A= | CA1608614069 | DSP | c.3329A= (p.Lys1110=) | |
6 | g.7579519A>C | CA362683702 | DSP | c.3329A>C (p.Lys1110Thr) | ClinVar dbSNP gnomAD v4 |
6 | g.7579519A>G | CA362683704 | DSP | c.3329A>G (p.Lys1110Arg) | |
6 | g.7579519A>T | CA362683705 | DSP | c.3329A>T (p.Lys1110Met) | |
6 | g.7579520G>A | CA448714407 | DSP | c.3330G>A (p.Lys1110=) | |
6 | g.7579520G>C | CA362683706 | DSP | c.3330G>C (p.Lys1110Asn) | |
6 | g.7579520G>T | CA362683708 | DSP | c.3330G>T (p.Lys1110Asn) | |
6 | g.7579521A= | CA1608614073 | DSP | c.3331A= (p.Ile1111=) | |
6 | g.7579521A>C | CA362683712 | DSP | c.3331A>C (p.Ile1111Leu) | dbSNP |
6 | g.7579521A>G | CA362683711 | DSP | c.3331A>G (p.Ile1111Val) | dbSNP gnomAD v2 |
6 | g.7579521A>T | CA362683709 | DSP | c.3331A>T (p.Ile1111Phe) | |
6 | g.7579522T>A | CA362683714 | DSP | c.3332T>A (p.Ile1111Asn) | |
6 | g.7579522T>C | CA362683715 | DSP | c.3332T>C (p.Ile1111Thr) | gnomAD v4 |
6 | g.7579522T>G | CA362683716 | DSP | c.3332T>G (p.Ile1111Ser) | |
6 | g.7579523C>A | CA448714411 | DSP | c.3333C>A (p.Ile1111=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |