| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.7582933_7587670delinsAGAACAGTCTT | CA2580075482 | ClinVar | ||
| 6 | g.7582933_7587670delinsAGAGAAGAACAGTCTT | CA915944145 | ClinVar | ||
| 6 | g.7582934_7587655del | CA2695202641 | |||
| 6 | g.7583301_7585800del | CA006686 | DSP | c.4710_7209del (p.Gly1571GlufsTer?) c.6039_8538del (p.Gly2014GlufsTer?) c.4242_6741del (p.Gly1415GlufsTer?) | |
| 6 | g.7583481A>C | CA448715999 | DSP | c.4890A>C (p.Ile1630=) c.6219A>C (p.Ile2073=) c.4422A>C (p.Ile1474=) | gnomAD v4 |
| 6 | g.7583481A>G | CA362690331 | DSP | c.4890A>G (p.Ile1630Met) c.6219A>G (p.Ile2073Met) c.4422A>G (p.Ile1474Met) | |
| 6 | g.7583481A>T | CA448716001 | DSP | c.4890A>T (p.Ile1630=) c.6219A>T (p.Ile2073=) c.4422A>T (p.Ile1474=) | |
| 6 | g.7583482G>A | CA362690332 | DSP | c.4891G>A (p.Ala1631Thr) c.6220G>A (p.Ala2074Thr) c.4423G>A (p.Ala1475Thr) | |
| 6 | g.7583482G>C | CA362690333 | DSP | c.4891G>C (p.Ala1631Pro) c.6220G>C (p.Ala2074Pro) c.4423G>C (p.Ala1475Pro) | |
| 6 | g.7583482G>T | CA362690334 | DSP | c.4891G>T (p.Ala1631Ser) c.6220G>T (p.Ala2074Ser) c.4423G>T (p.Ala1475Ser) | |
| 6 | g.7583483C>A | CA362690335 | DSP | c.4892C>A (p.Ala1631Asp) c.6221C>A (p.Ala2074Asp) c.4424C>A (p.Ala1475Asp) | |
| 6 | g.7583483C>G | CA362690336 | DSP | c.4892C>G (p.Ala1631Gly) c.6221C>G (p.Ala2074Gly) c.4424C>G (p.Ala1475Gly) | |
| 6 | g.7583483C>T | CA362690337 | DSP | c.4892C>T (p.Ala1631Val) c.6221C>T (p.Ala2074Val) c.4424C>T (p.Ala1475Val) | |
| 6 | g.7583484T>A | CA448716002 | DSP | c.4893T>A (p.Ala1631=) c.6222T>A (p.Ala2074=) c.4425T>A (p.Ala1475=) | |
| 6 | g.7583484T>C | CA448716003 | DSP | c.4893T>C (p.Ala1631=) c.6222T>C (p.Ala2074=) c.4425T>C (p.Ala1475=) | |
| 6 | g.7583484T>G | CA448716004 | DSP | c.4893T>G (p.Ala1631=) c.6222T>G (p.Ala2074=) c.4425T>G (p.Ala1475=) | ClinVar dbSNP |
| 6 | g.7583484T= | CA1608608258 | DSP | c.4893T= (p.Ala1631=) c.6222T= (p.Ala2074=) c.4425T= (p.Ala1475=) | |
| 6 | g.7583485C>A | CA448716006 | DSP | c.4894C>A (p.Arg1632=) c.6223C>A (p.Arg2075=) c.4426C>A (p.Arg1476=) | |
| 6 | g.7583485C= | CA1608608266 | DSP | c.4894C= (p.Arg1632=) c.6223C= (p.Arg2075=) c.4426C= (p.Arg1476=) | |
| 6 | g.7583485C>G | CA362690338 | DSP | c.4894C>G (p.Arg1632Gly) c.6223C>G (p.Arg2075Gly) c.4426C>G (p.Arg1476Gly) | ClinVar dbSNP |
| 6 | g.7583485C>T | CA047094 | DSP | c.4894C>T (p.Arg1632Trp) c.6223C>T (p.Arg2075Trp) c.4426C>T (p.Arg1476Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.7583486G>A | CA047105 | DSP | c.4895G>A (p.Arg1632Gln) c.6224G>A (p.Arg2075Gln) c.4427G>A (p.Arg1476Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583486G>C | CA362690339 | DSP | c.4895G>C (p.Arg1632Pro) c.6224G>C (p.Arg2075Pro) c.4427G>C (p.Arg1476Pro) | |
| 6 | g.7583486G= | CA1608608274 | DSP | c.4895G= (p.Arg1632=) c.6224G= (p.Arg2075=) c.4427G= (p.Arg1476=) | |
| 6 | g.7583486G>T | CA362690340 | DSP | c.4895G>T (p.Arg1632Leu) c.6224G>T (p.Arg2075Leu) c.4427G>T (p.Arg1476Leu) | ClinVar |
| 6 | g.7583487G>A | CA448716008 | DSP | c.4896G>A (p.Arg1632=) c.6225G>A (p.Arg2075=) c.4428G>A (p.Arg1476=) | ClinVar |
| 6 | g.7583487G>C | CA448716009 | DSP | c.4896G>C (p.Arg1632=) c.6225G>C (p.Arg2075=) c.4428G>C (p.Arg1476=) | |
| 6 | g.7583487G>T | CA448716010 | DSP | c.4896G>T (p.Arg1632=) c.6225G>T (p.Arg2075=) c.4428G>T (p.Arg1476=) | |
| 6 | g.7583488G>A | CA362690343 | DSP | c.4897G>A (p.Asp1633Asn) c.6226G>A (p.Asp2076Asn) c.4429G>A (p.Asp1477Asn) | gnomAD v4 |
| 6 | g.7583488G>C | CA362690341 | DSP | c.4897G>C (p.Asp1633His) c.6226G>C (p.Asp2076His) c.4429G>C (p.Asp1477His) | |
| 6 | g.7583488G>T | CA362690342 | DSP | c.4897G>T (p.Asp1633Tyr) c.6226G>T (p.Asp2076Tyr) c.4429G>T (p.Asp1477Tyr) | |
| 6 | g.7583489A>C | CA362690344 | DSP | c.4898A>C (p.Asp1633Ala) c.6227A>C (p.Asp2076Ala) c.4430A>C (p.Asp1477Ala) | |
| 6 | g.7583489A>G | CA362690345 | DSP | c.4898A>G (p.Asp1633Gly) c.6227A>G (p.Asp2076Gly) c.4430A>G (p.Asp1477Gly) | |
| 6 | g.7583489A>T | CA362690346 | DSP | c.4898A>T (p.Asp1633Val) c.6227A>T (p.Asp2076Val) c.4430A>T (p.Asp1477Val) | |
| 6 | g.7583490C>A | CA362690347 | DSP | c.4899C>A (p.Asp1633Glu) c.6228C>A (p.Asp2076Glu) c.4431C>A (p.Asp1477Glu) | |
| 6 | g.7583490C>G | CA362690348 | DSP | c.4899C>G (p.Asp1633Glu) c.6228C>G (p.Asp2076Glu) c.4431C>G (p.Asp1477Glu) | |
| 6 | g.7583490C>T | CA448716012 | DSP | c.4899C>T (p.Asp1633=) c.6228C>T (p.Asp2076=) c.4431C>T (p.Asp1477=) | |
| 6 | g.7583491C>A | CA362690349 | DSP | c.4900C>A (p.Leu1634Ile) c.6229C>A (p.Leu2077Ile) c.4432C>A (p.Leu1478Ile) | |
| 6 | g.7583491C= | CA1608608283 | DSP | c.4900C= (p.Leu1634=) c.6229C= (p.Leu2077=) c.4432C= (p.Leu1478=) | |
| 6 | g.7583491C>G | CA047115 | DSP | c.4900C>G (p.Leu1634Val) c.6229C>G (p.Leu2077Val) c.4432C>G (p.Leu1478Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7583491C>T | CA362690350 | DSP | c.4900C>T (p.Leu1634Phe) c.6229C>T (p.Leu2077Phe) c.4432C>T (p.Leu1478Phe) | dbSNP |
| 6 | g.7583492T>A | CA362690351 | DSP | c.4901T>A (p.Leu1634His) c.6230T>A (p.Leu2077His) c.4433T>A (p.Leu1478His) | |
| 6 | g.7583492T>C | CA362690352 | DSP | c.4901T>C (p.Leu1634Pro) c.6230T>C (p.Leu2077Pro) c.4433T>C (p.Leu1478Pro) | gnomAD v4 |
| 6 | g.7583492T>G | CA362690353 | DSP | c.4901T>G (p.Leu1634Arg) c.6230T>G (p.Leu2077Arg) c.4433T>G (p.Leu1478Arg) | |
| 6 | g.7583493C>A | CA448716015 | DSP | c.4902C>A (p.Leu1634=) c.6231C>A (p.Leu2077=) c.4434C>A (p.Leu1478=) | |
| 6 | g.7583493C>G | CA448716014 | DSP | c.4902C>G (p.Leu1634=) c.6231C>G (p.Leu2077=) c.4434C>G (p.Leu1478=) | |
| 6 | g.7583493C>T | CA448716013 | DSP | c.4902C>T (p.Leu1634=) c.6231C>T (p.Leu2077=) c.4434C>T (p.Leu1478=) | ClinVar |
| 6 | g.7583494A= | CA1608608290 | DSP | c.4903A= (p.Ile1635=) c.6232A= (p.Ile2078=) c.4435A= (p.Ile1479=) | |
| 6 | g.7583494A>C | CA362690355 | DSP | c.4903A>C (p.Ile1635Leu) c.6232A>C (p.Ile2078Leu) c.4435A>C (p.Ile1479Leu) | |
| 6 | g.7583494A>G | CA362690356 | DSP | c.4903A>G (p.Ile1635Val) c.6232A>G (p.Ile2078Val) c.4435A>G (p.Ile1479Val) | dbSNP |