Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.7580370C>A | CA362685731 | DSP | c.4050+130C>A (n.4050+130C>A) c.4180C>A (p.Gln1394Lys) c.3582+598C>A (n.3582+598C>A) | |
6 | g.7580370C= | CA1608616623 | DSP | c.4050+130C= (n.4050+130C=) c.4180C= (p.Gln1394=) c.3582+598C= (n.3582+598C=) | |
6 | g.7580370C>G | CA362685730 | DSP | c.4050+130C>G (n.4050+130C>G) c.4180C>G (p.Gln1394Glu) c.3582+598C>G (n.3582+598C>G) | |
6 | g.7580370C>T | CA004405 | DSP | c.4050+130C>T (n.4050+130C>T) c.4180C>T (p.Gln1394Ter) c.3582+598C>T (n.3582+598C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.7580371A= | CA1608616630 | DSP | c.4050+131A= (n.4050+131A=) c.4181A= (p.Gln1394=) c.3582+599A= (n.3582+599A=) | |
6 | g.7580371A>C | CA362685732 | DSP | c.4050+131A>C (n.4050+131A>C) c.4181A>C (p.Gln1394Pro) c.3582+599A>C (n.3582+599A>C) | |
6 | g.7580371A>G | CA040438 | DSP | c.4050+131A>G (n.4050+131A>G) c.4181A>G (p.Gln1394Arg) c.3582+599A>G (n.3582+599A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.7580371A>T | CA362685733 | DSP | c.4050+131A>T (n.4050+131A>T) c.4181A>T (p.Gln1394Leu) c.3582+599A>T (n.3582+599A>T) | |
6 | g.7580374_7580377del | CA2695206013 | DSP | c.4050+134_4050+137del (n.4050+134_4050+137del) c.4184_4187del (p.Ile1395ThrfsTer14) c.3582+602_3582+605del (n.3582+602_3582+605del) | |
6 | g.7580372G>A | CA040463 | DSP | c.4050+132G>A (n.4050+132G>A) c.4182G>A (p.Gln1394=) c.3582+600G>A (n.3582+600G>A) | dbSNP ExAC gnomAD v2 |
6 | g.7580372G>C | CA362685734 | DSP | c.4050+132G>C (n.4050+132G>C) c.4182G>C (p.Gln1394His) c.3582+600G>C (n.3582+600G>C) | |
6 | g.7580372G= | CA1608616631 | DSP | c.4050+132G= (n.4050+132G=) c.4182G= (p.Gln1394=) c.3582+600G= (n.3582+600G=) | |
6 | g.7580372G>T | CA362685735 | DSP | c.4050+132G>T (n.4050+132G>T) c.4182G>T (p.Gln1394His) c.3582+600G>T (n.3582+600G>T) | |
6 | g.7580373A>C | CA362685736 | DSP | c.4050+133A>C (n.4050+133A>C) c.4183A>C (p.Ile1395Leu) c.3582+601A>C (n.3582+601A>C) | |
6 | g.7580373A>G | CA362685737 | DSP | c.4050+133A>G (n.4050+133A>G) c.4183A>G (p.Ile1395Val) c.3582+601A>G (n.3582+601A>G) | |
6 | g.7580373A>T | CA362685738 | DSP | c.4050+133A>T (n.4050+133A>T) c.4183A>T (p.Ile1395Leu) c.3582+601A>T (n.3582+601A>T) | |
6 | g.7580374T>A | CA362685739 | DSP | c.4050+134T>A (n.4050+134T>A) c.4184T>A (p.Ile1395Lys) c.3582+602T>A (n.3582+602T>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.7580374T>C | CA362685740 | DSP | c.4050+134T>C (n.4050+134T>C) c.4184T>C (p.Ile1395Thr) c.3582+602T>C (n.3582+602T>C) | dbSNP gnomAD v4 |
6 | g.7580374T>G | CA362685741 | DSP | c.4050+134T>G (n.4050+134T>G) c.4184T>G (p.Ile1395Arg) c.3582+602T>G (n.3582+602T>G) | |
6 | g.7580374T= | CA1608616634 | DSP | c.4050+134T= (n.4050+134T=) c.4184T= (p.Ile1395=) c.3582+602T= (n.3582+602T=) | |
6 | g.7580375A>C | CA448714318 | DSP | c.4050+135A>C (n.4050+135A>C) c.4185A>C (p.Ile1395=) c.3582+603A>C (n.3582+603A>C) | |
6 | g.7580375A>G | CA362685742 | DSP | c.4050+135A>G (n.4050+135A>G) c.4185A>G (p.Ile1395Met) c.3582+603A>G (n.3582+603A>G) | |
6 | g.7580375A>T | CA448714319 | DSP | c.4050+135A>T (n.4050+135A>T) c.4185A>T (p.Ile1395=) c.3582+603A>T (n.3582+603A>T) | |
6 | g.7580376G>A | CA362685743 | DSP | c.4050+136G>A (n.4050+136G>A) c.4186G>A (p.Asp1396Asn) c.3582+604G>A (n.3582+604G>A) | |
6 | g.7580376G>C | CA362685745 | DSP | c.4050+136G>C (n.4050+136G>C) c.4186G>C (p.Asp1396His) c.3582+604G>C (n.3582+604G>C) | |
6 | g.7580376G>T | CA362685744 | DSP | c.4050+136G>T (n.4050+136G>T) c.4186G>T (p.Asp1396Tyr) c.3582+604G>T (n.3582+604G>T) | |
6 | g.7580377A>C | CA362685746 | DSP | c.4050+137A>C (n.4050+137A>C) c.4187A>C (p.Asp1396Ala) c.3582+605A>C (n.3582+605A>C) | |
6 | g.7580377A>G | CA362685747 | DSP | c.4050+137A>G (n.4050+137A>G) c.4187A>G (p.Asp1396Gly) c.3582+605A>G (n.3582+605A>G) | |
6 | g.7580377A>T | CA362685748 | DSP | c.4050+137A>T (n.4050+137A>T) c.4187A>T (p.Asp1396Val) c.3582+605A>T (n.3582+605A>T) | |
6 | g.7580378C>A | CA362685749 | DSP | c.4050+138C>A (n.4050+138C>A) c.4188C>A (p.Asp1396Glu) c.3582+606C>A (n.3582+606C>A) | |
6 | g.7580378C>G | CA362685750 | DSP | c.4050+138C>G (n.4050+138C>G) c.4188C>G (p.Asp1396Glu) c.3582+606C>G (n.3582+606C>G) | |
6 | g.7580378C>T | CA448714320 | DSP | c.4050+138C>T (n.4050+138C>T) c.4188C>T (p.Asp1396=) c.3582+606C>T (n.3582+606C>T) | ClinVar |
6 | g.7580379A>C | CA362685751 | DSP | c.4050+139A>C (n.4050+139A>C) c.4189A>C (p.Asn1397His) c.3582+607A>C (n.3582+607A>C) | |
6 | g.7580379A>G | CA362685752 | DSP | c.4050+139A>G (n.4050+139A>G) c.4189A>G (p.Asn1397Asp) c.3582+607A>G (n.3582+607A>G) | |
6 | g.7580379A>T | CA362685753 | DSP | c.4050+139A>T (n.4050+139A>T) c.4189A>T (p.Asn1397Tyr) c.3582+607A>T (n.3582+607A>T) | |
6 | g.7580380A= | CA1608616640 | DSP | c.4050+140A= (n.4050+140A=) c.4190A= (p.Asn1397=) c.3582+608A= (n.3582+608A=) | |
6 | g.7580380A>C | CA362685754 | DSP | c.4050+140A>C (n.4050+140A>C) c.4190A>C (p.Asn1397Thr) c.3582+608A>C (n.3582+608A>C) | |
6 | g.7580380A>G | CA040484 | DSP | c.4050+140A>G (n.4050+140A>G) c.4190A>G (p.Asn1397Ser) c.3582+608A>G (n.3582+608A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.7580380A>T | CA362685755 | DSP | c.4050+140A>T (n.4050+140A>T) c.4190A>T (p.Asn1397Ile) c.3582+608A>T (n.3582+608A>T) | |
6 | g.7580381T>A | CA362685756 | DSP | c.4050+141T>A (n.4050+141T>A) c.4191T>A (p.Asn1397Lys) c.3582+609T>A (n.3582+609T>A) | gnomAD v4 |
6 | g.7580381T>C | CA448714321 | DSP | c.4050+141T>C (n.4050+141T>C) c.4191T>C (p.Asn1397=) c.3582+609T>C (n.3582+609T>C) | |
6 | g.7580381T>G | CA362685757 | DSP | c.4050+141T>G (n.4050+141T>G) c.4191T>G (p.Asn1397Lys) c.3582+609T>G (n.3582+609T>G) | |
6 | g.7580382C>A | CA362685758 | DSP | c.4050+142C>A (n.4050+142C>A) c.4192C>A (p.Leu1398Ile) c.3582+610C>A (n.3582+610C>A) | |
6 | g.7580382C>G | CA362685759 | DSP | c.4050+142C>G (n.4050+142C>G) c.4192C>G (p.Leu1398Val) c.3582+610C>G (n.3582+610C>G) | |
6 | g.7580382C>T | CA362685760 | DSP | c.4050+142C>T (n.4050+142C>T) c.4192C>T (p.Leu1398Phe) c.3582+610C>T (n.3582+610C>T) | |
6 | g.7580383T>A | CA362685761 | DSP | c.4050+143T>A (n.4050+143T>A) c.4193T>A (p.Leu1398His) c.3582+611T>A (n.3582+611T>A) | |
6 | g.7580383T>C | CA362685762 | DSP | c.4050+143T>C (n.4050+143T>C) c.4193T>C (p.Leu1398Pro) c.3582+611T>C (n.3582+611T>C) | |
6 | g.7580383T>G | CA362685763 | DSP | c.4050+143T>G (n.4050+143T>G) c.4193T>G (p.Leu1398Arg) c.3582+611T>G (n.3582+611T>G) | |
6 | g.7580384C>A | CA448714322 | DSP | c.4050+144C>A (n.4050+144C>A) c.4194C>A (p.Leu1398=) c.3582+612C>A (n.3582+612C>A) | |
6 | g.7580384C>G | CA448714323 | DSP | c.4050+144C>G (n.4050+144C>G) c.4194C>G (p.Leu1398=) c.3582+612C>G (n.3582+612C>G) |