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.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.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 |
| 6 | g.7583494A>T | CA362690354 | DSP | c.4903A>T (p.Ile1635Phe) c.6232A>T (p.Ile2078Phe) c.4435A>T (p.Ile1479Phe) | |
| 6 | g.7583495T>A | CA362690357 | DSP | c.4904T>A (p.Ile1635Asn) c.6233T>A (p.Ile2078Asn) c.4436T>A (p.Ile1479Asn) | |
| 6 | g.7583495T>C | CA047127 | DSP | c.4904T>C (p.Ile1635Thr) c.6233T>C (p.Ile2078Thr) c.4436T>C (p.Ile1479Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583495T>G | CA362690358 | DSP | c.4904T>G (p.Ile1635Ser) c.6233T>G (p.Ile2078Ser) c.4436T>G (p.Ile1479Ser) | |
| 6 | g.7583495T= | CA1608608295 | DSP | c.4904T= (p.Ile1635=) c.6233T= (p.Ile2078=) c.4436T= (p.Ile1479=) | |
| 6 | g.7583496T>A | CA448716018 | DSP | c.4905T>A (p.Ile1635=) c.6234T>A (p.Ile2078=) c.4437T>A (p.Ile1479=) | |
| 6 | g.7583496T>C | CA448716017 | DSP | c.4905T>C (p.Ile1635=) c.6234T>C (p.Ile2078=) c.4437T>C (p.Ile1479=) | |
| 6 | g.7583496T>G | CA362690359 | DSP | c.4905T>G (p.Ile1635Met) c.6234T>G (p.Ile2078Met) c.4437T>G (p.Ile1479Met) | |
| 6 | g.7583497G>A | CA362690360 | DSP | c.4906G>A (p.Asp1636Asn) c.6235G>A (p.Asp2079Asn) c.4438G>A (p.Asp1480Asn) | |
| 6 | g.7583497G>C | CA133974576 | DSP | c.4906G>C (p.Asp1636His) c.6235G>C (p.Asp2079His) c.4438G>C (p.Asp1480His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583497G= | CA1608608309 | DSP | c.4906G= (p.Asp1636=) c.6235G= (p.Asp2079=) c.4438G= (p.Asp1480=) | |
| 6 | g.7583497G>T | CA362690361 | DSP | c.4906G>T (p.Asp1636Tyr) c.6235G>T (p.Asp2079Tyr) c.4438G>T (p.Asp1480Tyr) | |
| 6 | g.7583498A>C | CA362690362 | DSP | c.4907A>C (p.Asp1636Ala) c.6236A>C (p.Asp2079Ala) c.4439A>C (p.Asp1480Ala) | |
| 6 | g.7583498A>G | CA362690363 | DSP | c.4907A>G (p.Asp1636Gly) c.6236A>G (p.Asp2079Gly) c.4439A>G (p.Asp1480Gly) | |
| 6 | g.7583498A>T | CA362690364 | DSP | c.4907A>T (p.Asp1636Val) c.6236A>T (p.Asp2079Val) c.4439A>T (p.Asp1480Val) | |
| 6 | g.7583499C>A | CA362690365 | DSP | c.4908C>A (p.Asp1636Glu) c.6237C>A (p.Asp2079Glu) c.4440C>A (p.Asp1480Glu) | |
| 6 | g.7583499C= | CA1608608317 | DSP | c.4908C= (p.Asp1636=) c.6237C= (p.Asp2079=) c.4440C= (p.Asp1480=) | |
| 6 | g.7583499C>G | CA362690366 | DSP | c.4908C>G (p.Asp1636Glu) c.6237C>G (p.Asp2079Glu) c.4440C>G (p.Asp1480Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7583499C>T | CA448716020 | DSP | c.4908C>T (p.Asp1636=) c.6237C>T (p.Asp2079=) c.4440C>T (p.Asp1480=) | ClinVar dbSNP |
| 6 | g.7583500T>A | CA362690369 | DSP | c.4909T>A (p.Phe1637Ile) c.6238T>A (p.Phe2080Ile) c.4441T>A (p.Phe1481Ile) | |
| 6 | g.7583500T>C | CA362690368 | DSP | c.4909T>C (p.Phe1637Leu) c.6238T>C (p.Phe2080Leu) c.4441T>C (p.Phe1481Leu) | |
| 6 | g.7583500T>G | CA362690367 | DSP | c.4909T>G (p.Phe1637Val) c.6238T>G (p.Phe2080Val) c.4441T>G (p.Phe1481Val) | |
| 6 | g.7583501T>A | CA362690370 | DSP | c.4910T>A (p.Phe1637Tyr) c.6239T>A (p.Phe2080Tyr) c.4442T>A (p.Phe1481Tyr) | |
| 6 | g.7583501T>C | CA362690371 | DSP | c.4910T>C (p.Phe1637Ser) c.6239T>C (p.Phe2080Ser) c.4442T>C (p.Phe1481Ser) | |
| 6 | g.7583501T>G | CA362690372 | DSP | c.4910T>G (p.Phe1637Cys) c.6239T>G (p.Phe2080Cys) c.4442T>G (p.Phe1481Cys) | |
| 6 | g.7583502C>A | CA362690373 | DSP | c.4911C>A (p.Phe1637Leu) c.6240C>A (p.Phe2080Leu) c.4443C>A (p.Phe1481Leu) | |
| 6 | g.7583502C= | CA1608608321 | DSP | c.4911C= (p.Phe1637=) c.6240C= (p.Phe2080=) c.4443C= (p.Phe1481=) | |
| 6 | g.7583502C>G | CA362690374 | DSP | c.4911C>G (p.Phe1637Leu) c.6240C>G (p.Phe2080Leu) c.4443C>G (p.Phe1481Leu) | |
| 6 | g.7583502C>T | CA047138 | DSP | c.4911C>T (p.Phe1637=) c.6240C>T (p.Phe2080=) c.4443C>T (p.Phe1481=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583503G>A | CA047147 | DSP | c.4912G>A (p.Asp1638Asn) c.6241G>A (p.Asp2081Asn) c.4444G>A (p.Asp1482Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583503G>C | CA362690375 | DSP | c.4912G>C (p.Asp1638His) c.6241G>C (p.Asp2081His) c.4444G>C (p.Asp1482His) | |
| 6 | g.7583503G= | CA1608608332 | DSP | c.4912G= (p.Asp1638=) c.6241G= (p.Asp2081=) c.4444G= (p.Asp1482=) | |
| 6 | g.7583503G>T | CA362690376 | DSP | c.4912G>T (p.Asp1638Tyr) c.6241G>T (p.Asp2081Tyr) c.4444G>T (p.Asp1482Tyr) | ClinVar |
| 6 | g.7583504A>C | CA362690377 | DSP | c.4913A>C (p.Asp1638Ala) c.6242A>C (p.Asp2081Ala) c.4445A>C (p.Asp1482Ala) | |
| 6 | g.7583504A>G | CA362690378 | DSP | c.4913A>G (p.Asp1638Gly) c.6242A>G (p.Asp2081Gly) c.4445A>G (p.Asp1482Gly) | |
| 6 | g.7583504A>T | CA362690379 | DSP | c.4913A>T (p.Asp1638Val) c.6242A>T (p.Asp2081Val) c.4445A>T (p.Asp1482Val) | |
| 6 | g.7583505T>A | CA362690380 | DSP | c.4914T>A (p.Asp1638Glu) c.6243T>A (p.Asp2081Glu) c.4446T>A (p.Asp1482Glu) | dbSNP |
| 6 | g.7583505T>C | CA448716022 | DSP | c.4914T>C (p.Asp1638=) c.6243T>C (p.Asp2081=) c.4446T>C (p.Asp1482=) | ClinVar dbSNP |
| 6 | g.7583505T>G | CA362690381 | DSP | c.4914T>G (p.Asp1638Glu) c.6243T>G (p.Asp2081Glu) c.4446T>G (p.Asp1482Glu) | |
| 6 | g.7583505T= | CA1608608335 | DSP | c.4914T= (p.Asp1638=) c.6243T= (p.Asp2081=) c.4446T= (p.Asp1482=) | |
| 6 | g.7583506G>A | CA362690383 | DSP | c.4915G>A (p.Asp1639Asn) c.6244G>A (p.Asp2082Asn) c.4447G>A (p.Asp1483Asn) | |
| 6 | g.7583506G>C | CA362690384 | DSP | c.4915G>C (p.Asp1639His) c.6244G>C (p.Asp2082His) c.4447G>C (p.Asp1483His) | |
| 6 | g.7583506G>T | CA362690382 | DSP | c.4915G>T (p.Asp1639Tyr) c.6244G>T (p.Asp2082Tyr) c.4447G>T (p.Asp1483Tyr) | |
| 6 | g.7583507A>C | CA362690385 | DSP | c.4916A>C (p.Asp1639Ala) c.6245A>C (p.Asp2082Ala) c.4448A>C (p.Asp1483Ala) | |
| 6 | g.7583507A>G | CA362690386 | DSP | c.4916A>G (p.Asp1639Gly) c.6245A>G (p.Asp2082Gly) c.4448A>G (p.Asp1483Gly) | |
| 6 | g.7583507A>T | CA362690387 | DSP | c.4916A>T (p.Asp1639Val) c.6245A>T (p.Asp2082Val) c.4448A>T (p.Asp1483Val) | |
| 6 | g.7583508C>A | CA362690388 | DSP | c.4917C>A (p.Asp1639Glu) c.6246C>A (p.Asp2082Glu) c.4449C>A (p.Asp1483Glu) | |
| 6 | g.7583508C>G | CA362690389 | DSP | c.4917C>G (p.Asp1639Glu) c.6246C>G (p.Asp2082Glu) c.4449C>G (p.Asp1483Glu) | |
| 6 | g.7583508C>T | CA448716024 | DSP | c.4917C>T (p.Asp1639=) c.6246C>T (p.Asp2082=) c.4449C>T (p.Asp1483=) | |
| 6 | g.7583509C>A | CA362690391 | DSP | c.4918C>A (p.Arg1640Ser) c.6247C>A (p.Arg2083Ser) c.4450C>A (p.Arg1484Ser) | |
| 6 | g.7583509C= | CA1608608343 | DSP | c.4918C= (p.Arg1640=) c.6247C= (p.Arg2083=) c.4450C= (p.Arg1484=) | |
| 6 | g.7583509C>G | CA362690390 | DSP | c.4918C>G (p.Arg1640Gly) c.6247C>G (p.Arg2083Gly) c.4450C>G (p.Arg1484Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7583509C>T | CA047157 | DSP | c.4918C>T (p.Arg1640Cys) c.6247C>T (p.Arg2083Cys) c.4450C>T (p.Arg1484Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583510G>A | CA006785 | DSP | c.4919G>A (p.Arg1640His) c.6248G>A (p.Arg2083His) c.4451G>A (p.Arg1484His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583510G>C | CA362690392 | DSP | c.4919G>C (p.Arg1640Pro) c.6248G>C (p.Arg2083Pro) c.4451G>C (p.Arg1484Pro) | |
| 6 | g.7583510G= | CA1608608352 | DSP | c.4919G= (p.Arg1640=) c.6248G= (p.Arg2083=) c.4451G= (p.Arg1484=) | |
| 6 | g.7583510G>T | CA362690393 | DSP | c.4919G>T (p.Arg1640Leu) c.6248G>T (p.Arg2083Leu) c.4451G>T (p.Arg1484Leu) | |
| 6 | g.7583511T>A | CA448716028 | DSP | c.4920T>A (p.Arg1640=) c.6249T>A (p.Arg2083=) c.4452T>A (p.Arg1484=) | |
| 6 | g.7583511T>C | CA448716029 | DSP | c.4920T>C (p.Arg1640=) c.6249T>C (p.Arg2083=) c.4452T>C (p.Arg1484=) | gnomAD v4 |
| 6 | g.7583511T>G | CA448716030 | DSP | c.4920T>G (p.Arg1640=) c.6249T>G (p.Arg2083=) c.4452T>G (p.Arg1484=) | |
| 6 | g.7583512C>A | CA362690394 | DSP | c.4921C>A (p.Gln1641Lys) c.6250C>A (p.Gln2084Lys) c.4453C>A (p.Gln1485Lys) | |
| 6 | g.7583512C>G | CA362690395 | DSP | c.4921C>G (p.Gln1641Glu) c.6250C>G (p.Gln2084Glu) c.4453C>G (p.Gln1485Glu) | |
| 6 | g.7583512C>T | CA362690396 | DSP | c.4921C>T (p.Gln1641Ter) c.6250C>T (p.Gln2084Ter) c.4453C>T (p.Gln1485Ter) | |
| 6 | g.7583513A>C | CA362690397 | DSP | c.4922A>C (p.Gln1641Pro) c.6251A>C (p.Gln2084Pro) c.4454A>C (p.Gln1485Pro) | |
| 6 | g.7583513A>G | CA362690399 | DSP | c.4922A>G (p.Gln1641Arg) c.6251A>G (p.Gln2084Arg) c.4454A>G (p.Gln1485Arg) | |
| 6 | g.7583513A>T | CA362690398 | DSP | c.4922A>T (p.Gln1641Leu) c.6251A>T (p.Gln2084Leu) c.4454A>T (p.Gln1485Leu) | |
| 6 | g.7583514G>A | CA133974596 | DSP | c.4923G>A (p.Gln1641=) c.6252G>A (p.Gln2084=) c.4455G>A (p.Gln1485=) | dbSNP |
| 6 | g.7583514G>C | CA362690400 | DSP | c.4923G>C (p.Gln1641His) c.6252G>C (p.Gln2084His) c.4455G>C (p.Gln1485His) | |
| 6 | g.7583514G= | CA1608608360 | DSP | c.4923G= (p.Gln1641=) c.6252G= (p.Gln2084=) c.4455G= (p.Gln1485=) | |
| 6 | g.7583514G>T | CA362690401 | DSP | c.4923G>T (p.Gln1641His) c.6252G>T (p.Gln2084His) c.4455G>T (p.Gln1485His) | |
| 6 | g.7583515C>A | CA362690402 | DSP | c.4924C>A (p.Gln1642Lys) c.6253C>A (p.Gln2085Lys) c.4456C>A (p.Gln1486Lys) | |
| 6 | g.7583515C>G | CA362690403 | DSP | c.4924C>G (p.Gln1642Glu) c.6253C>G (p.Gln2085Glu) c.4456C>G (p.Gln1486Glu) | gnomAD v4 |
| 6 | g.7583515C>T | CA362690404 | DSP | c.4924C>T (p.Gln1642Ter) c.6253C>T (p.Gln2085Ter) c.4456C>T (p.Gln1486Ter) | ClinVar |
| 6 | g.7583516A>C | CA362690405 | DSP | c.4925A>C (p.Gln1642Pro) c.6254A>C (p.Gln2085Pro) c.4457A>C (p.Gln1486Pro) | |
| 6 | g.7583516A>G | CA362690406 | DSP | c.4925A>G (p.Gln1642Arg) c.6254A>G (p.Gln2085Arg) c.4457A>G (p.Gln1486Arg) | |
| 6 | g.7583516A>T | CA362690407 | DSP | c.4925A>T (p.Gln1642Leu) c.6254A>T (p.Gln2085Leu) c.4457A>T (p.Gln1486Leu) | |
| 6 | g.7583517G>A | CA448716035 | DSP | c.4926G>A (p.Gln1642=) c.6255G>A (p.Gln2085=) c.4458G>A (p.Gln1486=) | |
| 6 | g.7583517G>C | CA362690408 | DSP | c.4926G>C (p.Gln1642His) c.6255G>C (p.Gln2085His) c.4458G>C (p.Gln1486His) | |
| 6 | g.7583517G>T | CA362690409 | DSP | c.4926G>T (p.Gln1642His) c.6255G>T (p.Gln2085His) c.4458G>T (p.Gln1486His) | |
| 6 | g.7583518A>C | CA362690411 | DSP | c.4927A>C (p.Ile1643Leu) c.6256A>C (p.Ile2086Leu) c.4459A>C (p.Ile1487Leu) | |
| 6 | g.7583518A>G | CA362690412 | DSP | c.4927A>G (p.Ile1643Val) c.6256A>G (p.Ile2086Val) c.4459A>G (p.Ile1487Val) | gnomAD v4 |
| 6 | g.7583518A>T | CA362690410 | DSP | c.4927A>T (p.Ile1643Leu) c.6256A>T (p.Ile2086Leu) c.4459A>T (p.Ile1487Leu) | |
| 6 | g.7583519T>A | CA362690415 | DSP | c.4928T>A (p.Ile1643Lys) c.6257T>A (p.Ile2086Lys) c.4460T>A (p.Ile1487Lys) | |
| 6 | g.7583519T>C | CA362690413 | DSP | c.4928T>C (p.Ile1643Thr) c.6257T>C (p.Ile2086Thr) c.4460T>C (p.Ile1487Thr) | |
| 6 | g.7583519T>G | CA362690414 | DSP | c.4928T>G (p.Ile1643Arg) c.6257T>G (p.Ile2086Arg) c.4460T>G (p.Ile1487Arg) | |
| 6 | g.7583520A= | CA1608608366 | DSP | c.4929A= (p.Ile1643=) c.6258A= (p.Ile2086=) c.4461A= (p.Ile1487=) | |
| 6 | g.7583520A>C | CA448716039 | DSP | c.4929A>C (p.Ile1643=) c.6258A>C (p.Ile2086=) c.4461A>C (p.Ile1487=) | |
| 6 | g.7583520A>G | CA362690416 | DSP | c.4929A>G (p.Ile1643Met) c.6258A>G (p.Ile2086Met) c.4461A>G (p.Ile1487Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7583520A>T | CA448716038 | DSP | c.4929A>T (p.Ile1643=) c.6258A>T (p.Ile2086=) c.4461A>T (p.Ile1487=) | |
| 6 | g.7583521T>A | CA362690417 | DSP | c.4930T>A (p.Tyr1644Asn) c.6259T>A (p.Tyr2087Asn) c.4462T>A (p.Tyr1488Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7583521T>C | CA006794 | DSP | c.4930T>C (p.Tyr1644His) c.6259T>C (p.Tyr2087His) c.4462T>C (p.Tyr1488His) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 6 | g.7583521T>G | CA362690418 | DSP | c.4930T>G (p.Tyr1644Asp) c.6259T>G (p.Tyr2087Asp) c.4462T>G (p.Tyr1488Asp) | |
| 6 | g.7583521T= | CA1608608381 | DSP | c.4930T= (p.Tyr1644=) c.6259T= (p.Tyr2087=) c.4462T= (p.Tyr1488=) | |
| 6 | g.7583522A= | CA1608608393 | DSP | c.4931A= (p.Tyr1644=) c.6260A= (p.Tyr2087=) c.4463A= (p.Tyr1488=) | |
| 6 | g.7583522A>C | CA362690421 | DSP | c.4931A>C (p.Tyr1644Ser) c.6260A>C (p.Tyr2087Ser) c.4463A>C (p.Tyr1488Ser) | |
| 6 | g.7583522A>G | CA362690419 | DSP | c.4931A>G (p.Tyr1644Cys) c.6260A>G (p.Tyr2087Cys) c.4463A>G (p.Tyr1488Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7583522A>T | CA362690420 | DSP | c.4931A>T (p.Tyr1644Phe) c.6260A>T (p.Tyr2087Phe) c.4463A>T (p.Tyr1488Phe) | |
| 6 | g.7583523T>A | CA362690422 | DSP | c.4932T>A (p.Tyr1644Ter) c.6261T>A (p.Tyr2087Ter) c.4464T>A (p.Tyr1488Ter) | |
| 6 | g.7583523T>C | CA448716040 | DSP | c.4932T>C (p.Tyr1644=) c.6261T>C (p.Tyr2087=) c.4464T>C (p.Tyr1488=) | |
| 6 | g.7583523T>G | CA362690423 | DSP | c.4932T>G (p.Tyr1644Ter) c.6261T>G (p.Tyr2087Ter) c.4464T>G (p.Tyr1488Ter) | |
| 6 | g.7583523_7583524del | CA2528356063 | DSP | c.4932_4933del (p.Ala1645SerfsTer9) c.6261_6262del (p.Ala2088SerfsTer9) c.4464_4465del (p.Ala1489SerfsTer9) | |
| 6 | g.7583523_7583524delinsTG | CA1608608399 | DSP | c.4932_4933delinsTG (p.Tyr1644=) c.6261_6262delinsTG (p.Tyr2087=) c.4464_4465delinsTG (p.Tyr1488=) | |
| 6 | g.7583524del | CA916081480 | DSP | c.4933del (p.Ala1645GlnfsTer28) c.6262del (p.Ala2088GlnfsTer28) c.4465del (p.Ala1489GlnfsTer28) | ClinVar dbSNP |
| 6 | g.7583524G>A | CA362690424 | DSP | c.4933G>A (p.Ala1645Thr) c.6262G>A (p.Ala2088Thr) c.4465G>A (p.Ala1489Thr) | gnomAD v4 |
| 6 | g.7583524G>C | CA362690425 | DSP | c.4933G>C (p.Ala1645Pro) c.6262G>C (p.Ala2088Pro) c.4465G>C (p.Ala1489Pro) | |
| 6 | g.7583524G= | CA1608608407 | DSP | c.4933G= (p.Ala1645=) c.6262G= (p.Ala2088=) c.4465G= (p.Ala1489=) | |
| 6 | g.7583524G>T | CA047196 | DSP | c.4933G>T (p.Ala1645Ser) c.6262G>T (p.Ala2088Ser) c.4465G>T (p.Ala1489Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.7583525C>A | CA362690428 | DSP | c.4934C>A (p.Ala1645Glu) c.6263C>A (p.Ala2088Glu) c.4466C>A (p.Ala1489Glu) | |
| 6 | g.7583525C>G | CA362690426 | DSP | c.4934C>G (p.Ala1645Gly) c.6263C>G (p.Ala2088Gly) c.4466C>G (p.Ala1489Gly) | |
| 6 | g.7583525C>T | CA362690427 | DSP | c.4934C>T (p.Ala1645Val) c.6263C>T (p.Ala2088Val) c.4466C>T (p.Ala1489Val) | |
| 6 | g.7583526A>C | CA448716044 | DSP | c.4935A>C (p.Ala1645=) c.6264A>C (p.Ala2088=) c.4467A>C (p.Ala1489=) | |
| 6 | g.7583526A>G | CA448716045 | DSP | c.4935A>G (p.Ala1645=) c.6264A>G (p.Ala2088=) c.4467A>G (p.Ala1489=) | |
| 6 | g.7583526A>T | CA448716046 | DSP | c.4935A>T (p.Ala1645=) c.6264A>T (p.Ala2088=) c.4467A>T (p.Ala1489=) | |
| 6 | g.7583526_7583527insCC | CA2505252542 | DSP | c.4935_4936insCC (p.Ala1646ProfsTer28) c.6264_6265insCC (p.Ala2089ProfsTer28) c.4467_4468insCC (p.Ala1490ProfsTer28) | |
| 6 | g.7583527G>A | CA362690429 | DSP | c.4936G>A (p.Ala1646Thr) c.6265G>A (p.Ala2089Thr) c.4468G>A (p.Ala1490Thr) | |
| 6 | g.7583527G>C | CA362690430 | DSP | c.4936G>C (p.Ala1646Pro) c.6265G>C (p.Ala2089Pro) c.4468G>C (p.Ala1490Pro) | |
| 6 | g.7583527G>T | CA362690431 | DSP | c.4936G>T (p.Ala1646Ser) c.6265G>T (p.Ala2089Ser) c.4468G>T (p.Ala1490Ser) | |
| 6 | g.7583528C>A | CA362690432 | DSP | c.4937C>A (p.Ala1646Glu) c.6266C>A (p.Ala2089Glu) c.4469C>A (p.Ala1490Glu) | |
| 6 | g.7583528C>G | CA362690433 | DSP | c.4937C>G (p.Ala1646Gly) c.6266C>G (p.Ala2089Gly) c.4469C>G (p.Ala1490Gly) | gnomAD v4 |
| 6 | g.7583528C>T | CA362690434 | DSP | c.4937C>T (p.Ala1646Val) c.6266C>T (p.Ala2089Val) c.4469C>T (p.Ala1490Val) | |
| 6 | g.7583529A>C | CA448716048 | DSP | c.4938A>C (p.Ala1646=) c.6267A>C (p.Ala2089=) c.4470A>C (p.Ala1490=) | |
| 6 | g.7583529A>G | CA448716049 | DSP | c.4938A>G (p.Ala1646=) c.6267A>G (p.Ala2089=) c.4470A>G (p.Ala1490=) | |
| 6 | g.7583529A>T | CA448716051 | DSP | c.4938A>T (p.Ala1646=) c.6267A>T (p.Ala2089=) c.4470A>T (p.Ala1490=) | ClinVar |
| 6 | g.7583530G>A | CA362690435 | DSP | c.4939G>A (p.Glu1647Lys) c.6268G>A (p.Glu2090Lys) c.4471G>A (p.Glu1491Lys) | |
| 6 | g.7583530G>C | CA362690436 | DSP | c.4939G>C (p.Glu1647Gln) c.6268G>C (p.Glu2090Gln) c.4471G>C (p.Glu1491Gln) | |
| 6 | g.7583530G>T | CA362690437 | DSP | c.4939G>T (p.Glu1647Ter) c.6268G>T (p.Glu2090Ter) c.4471G>T (p.Glu1491Ter) | |
| 6 | g.7583530_7583531delinsGA | CA1608608412 | DSP | c.4939_4940delinsGA (p.Glu1647=) c.6268_6269delinsGA (p.Glu2090=) c.4471_4472delinsGA (p.Glu1491=) | |
| 6 | g.7583531A= | CA1608608431 | DSP | c.4940A= (p.Glu1647=) c.6269A= (p.Glu2090=) c.4472A= (p.Glu1491=) | |
| 6 | g.7583531A>C | CA362690438 | DSP | c.4940A>C (p.Glu1647Ala) c.6269A>C (p.Glu2090Ala) c.4472A>C (p.Glu1491Ala) | |
| 6 | g.7583531A>G | CA047213 | DSP | c.4940A>G (p.Glu1647Gly) c.6269A>G (p.Glu2090Gly) c.4472A>G (p.Glu1491Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583531A>T | CA362690439 | DSP | c.4940A>T (p.Glu1647Val) c.6269A>T (p.Glu2090Val) c.4472A>T (p.Glu1491Val) | |
| 6 | g.7583535del | CA006802 | DSP | c.4944del (p.Ala1649LeufsTer24) c.6273del (p.Ala2092LeufsTer24) c.4476del (p.Ala1493LeufsTer24) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7583532A>C | CA362690440 | DSP | c.4941A>C (p.Glu1647Asp) c.6270A>C (p.Glu2090Asp) c.4473A>C (p.Glu1491Asp) | |
| 6 | g.7583532A>G | CA448716053 | DSP | c.4941A>G (p.Glu1647=) c.6270A>G (p.Glu2090=) c.4473A>G (p.Glu1491=) | |
| 6 | g.7583532A>T | CA362690441 | DSP | c.4941A>T (p.Glu1647Asp) c.6270A>T (p.Glu2090Asp) c.4473A>T (p.Glu1491Asp) | |
| 6 | g.7583533A= | CA1608608441 | DSP | c.4942A= (p.Lys1648=) c.6271A= (p.Lys2091=) c.4474A= (p.Lys1492=) | |
| 6 | g.7583533A>C | CA362690443 | DSP | c.4942A>C (p.Lys1648Gln) c.6271A>C (p.Lys2091Gln) c.4474A>C (p.Lys1492Gln) | |
| 6 | g.7583533A>G | CA133974620 | DSP | c.4942A>G (p.Lys1648Glu) c.6271A>G (p.Lys2091Glu) c.4474A>G (p.Lys1492Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7583533A>T | CA362690442 | DSP | c.4942A>T (p.Lys1648Ter) c.6271A>T (p.Lys2091Ter) c.4474A>T (p.Lys1492Ter) | |
| 6 | g.7583534A>C | CA362690444 | DSP | c.4943A>C (p.Lys1648Thr) c.6272A>C (p.Lys2091Thr) c.4475A>C (p.Lys1492Thr) | |
| 6 | g.7583534A>G | CA362690445 | DSP | c.4943A>G (p.Lys1648Arg) c.6272A>G (p.Lys2091Arg) c.4475A>G (p.Lys1492Arg) | |
| 6 | g.7583534A>T | CA362690446 | DSP | c.4943A>T (p.Lys1648Ile) c.6272A>T (p.Lys2091Ile) c.4475A>T (p.Lys1492Ile) | |
| 6 | g.7583535A>C | CA362690447 | DSP | c.4944A>C (p.Lys1648Asn) c.6273A>C (p.Lys2091Asn) c.4476A>C (p.Lys1492Asn) | |
| 6 | g.7583535A>G | CA448716056 | DSP | c.4944A>G (p.Lys1648=) c.6273A>G (p.Lys2091=) c.4476A>G (p.Lys1492=) | |
| 6 | g.7583535A>T | CA362690448 | DSP | c.4944A>T (p.Lys1648Asn) c.6273A>T (p.Lys2091Asn) c.4476A>T (p.Lys1492Asn) | |
| 6 | g.7583536G>A | CA362690449 | DSP | c.4945G>A (p.Ala1649Thr) c.6274G>A (p.Ala2092Thr) c.4477G>A (p.Ala1493Thr) | ClinVar |
| 6 | g.7583536G>C | CA362690450 | DSP | c.4945G>C (p.Ala1649Pro) c.6274G>C (p.Ala2092Pro) c.4477G>C (p.Ala1493Pro) | dbSNP |
| 6 | g.7583536G= | CA1608608445 | DSP | c.4945G= (p.Ala1649=) c.6274G= (p.Ala2092=) c.4477G= (p.Ala1493=) | |
| 6 | g.7583536G>T | CA362690451 | DSP | c.4945G>T (p.Ala1649Ser) c.6274G>T (p.Ala2092Ser) c.4477G>T (p.Ala1493Ser) | |
| 6 | g.7583537C>A | CA362690453 | DSP | c.4946C>A (p.Ala1649Asp) c.6275C>A (p.Ala2092Asp) c.4478C>A (p.Ala1493Asp) | |
| 6 | g.7583537C= | CA1608608459 | DSP | c.4946C= (p.Ala1649=) c.6275C= (p.Ala2092=) c.4478C= (p.Ala1493=) | |
| 6 | g.7583537C>G | CA362690452 | DSP | c.4946C>G (p.Ala1649Gly) c.6275C>G (p.Ala2092Gly) c.4478C>G (p.Ala1493Gly) | |
| 6 | g.7583537C>T | CA10576703 | DSP | c.4946C>T (p.Ala1649Val) c.6275C>T (p.Ala2092Val) c.4478C>T (p.Ala1493Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7583538T>A | CA448716060 | DSP | c.4947T>A (p.Ala1649=) c.6276T>A (p.Ala2092=) c.4479T>A (p.Ala1493=) | |
| 6 | g.7583538T>C | CA448716061 | DSP | c.4947T>C (p.Ala1649=) c.6276T>C (p.Ala2092=) c.4479T>C (p.Ala1493=) | |
| 6 | g.7583538T>G | CA448716062 | DSP | c.4947T>G (p.Ala1649=) c.6276T>G (p.Ala2092=) c.4479T>G (p.Ala1493=) | |
| 6 | g.7583539A>C | CA362690454 | DSP | c.4948A>C (p.Ile1650Leu) c.6277A>C (p.Ile2093Leu) c.4480A>C (p.Ile1494Leu) | |
| 6 | g.7583539A>G | CA362690455 | DSP | c.4948A>G (p.Ile1650Val) c.6277A>G (p.Ile2093Val) c.4480A>G (p.Ile1494Val) | gnomAD v4 |
| 6 | g.7583539A>T | CA362690456 | DSP | c.4948A>T (p.Ile1650Phe) c.6277A>T (p.Ile2093Phe) c.4480A>T (p.Ile1494Phe) | |
| 6 | g.7583540T>A | CA362690457 | DSP | c.4949T>A (p.Ile1650Asn) c.6278T>A (p.Ile2093Asn) c.4481T>A (p.Ile1494Asn) | |
| 6 | g.7583540T>C | CA362690458 | DSP | c.4949T>C (p.Ile1650Thr) c.6278T>C (p.Ile2093Thr) c.4481T>C (p.Ile1494Thr) | ClinVar |
| 6 | g.7583540T>G | CA362690459 | DSP | c.4949T>G (p.Ile1650Ser) c.6278T>G (p.Ile2093Ser) c.4481T>G (p.Ile1494Ser) | |
| 6 | g.7583541C>A | CA448716065 | DSP | c.4950C>A (p.Ile1650=) c.6279C>A (p.Ile2093=) c.4482C>A (p.Ile1494=) | |
| 6 | g.7583541C>G | CA362690460 | DSP | c.4950C>G (p.Ile1650Met) c.6279C>G (p.Ile2093Met) c.4482C>G (p.Ile1494Met) | |
| 6 | g.7583541C>T | CA448716063 | DSP | c.4950C>T (p.Ile1650=) c.6279C>T (p.Ile2093=) c.4482C>T (p.Ile1494=) | COSMIC |
| 6 | g.7583542A>C | CA362690461 | DSP | c.4951A>C (p.Thr1651Pro) c.6280A>C (p.Thr2094Pro) c.4483A>C (p.Thr1495Pro) | |
| 6 | g.7583542A>G | CA362690462 | DSP | c.4951A>G (p.Thr1651Ala) c.6280A>G (p.Thr2094Ala) c.4483A>G (p.Thr1495Ala) | gnomAD v4 |
| 6 | g.7583542A>T | CA362690463 | DSP | c.4951A>T (p.Thr1651Ser) c.6280A>T (p.Thr2094Ser) c.4483A>T (p.Thr1495Ser) | |
| 6 | g.7583543C>A | CA362690464 | DSP | c.4952C>A (p.Thr1651Asn) c.6281C>A (p.Thr2094Asn) c.4484C>A (p.Thr1495Asn) | gnomAD v4 |
| 6 | g.7583543C>G | CA362690465 | DSP | c.4952C>G (p.Thr1651Ser) c.6281C>G (p.Thr2094Ser) c.4484C>G (p.Thr1495Ser) | |
| 6 | g.7583543C>T | CA362690466 | DSP | c.4952C>T (p.Thr1651Ile) c.6281C>T (p.Thr2094Ile) c.4484C>T (p.Thr1495Ile) | |
| 6 | g.7583544T>A | CA448716068 | DSP | c.4953T>A (p.Thr1651=) c.6282T>A (p.Thr2094=) c.4485T>A (p.Thr1495=) | gnomAD v4 |
| 6 | g.7583544T>C | CA448716069 | DSP | c.4953T>C (p.Thr1651=) c.6282T>C (p.Thr2094=) c.4485T>C (p.Thr1495=) | |
| 6 | g.7583544T>G | CA448716070 | DSP | c.4953T>G (p.Thr1651=) c.6282T>G (p.Thr2094=) c.4485T>G (p.Thr1495=) | |
| 6 | g.7583545G>A | CA362690468 | DSP | c.4954G>A (p.Gly1652Ser) c.6283G>A (p.Gly2095Ser) c.4486G>A (p.Gly1496Ser) | |
| 6 | g.7583545G>C | CA362690469 | DSP | c.4954G>C (p.Gly1652Arg) c.6283G>C (p.Gly2095Arg) c.4486G>C (p.Gly1496Arg) | |
| 6 | g.7583545G>T | CA362690467 | DSP | c.4954G>T (p.Gly1652Cys) c.6283G>T (p.Gly2095Cys) c.4486G>T (p.Gly1496Cys) | |
| 6 | g.7583546G>A | CA362690470 | DSP | c.4955G>A (p.Gly1652Asp) c.6284G>A (p.Gly2095Asp) c.4487G>A (p.Gly1496Asp) | ClinVar dbSNP |
| 6 | g.7583546G>C | CA362690471 | DSP | c.4955G>C (p.Gly1652Ala) c.6284G>C (p.Gly2095Ala) c.4487G>C (p.Gly1496Ala) | |
| 6 | g.7583546G= | CA1608608467 | DSP | c.4955G= (p.Gly1652=) c.6284G= (p.Gly2095=) c.4487G= (p.Gly1496=) | |
| 6 | g.7583546G>T | CA362690472 | DSP | c.4955G>T (p.Gly1652Val) c.6284G>T (p.Gly2095Val) c.4487G>T (p.Gly1496Val) | |
| 6 | g.7583547T>A | CA448716074 | DSP | c.4956T>A (p.Gly1652=) c.6285T>A (p.Gly2095=) c.4488T>A (p.Gly1496=) | |
| 6 | g.7583547T>C | CA448716076 | DSP | c.4956T>C (p.Gly1652=) c.6285T>C (p.Gly2095=) c.4488T>C (p.Gly1496=) | |
| 6 | g.7583547T>G | CA448716075 | DSP | c.4956T>G (p.Gly1652=) c.6285T>G (p.Gly2095=) c.4488T>G (p.Gly1496=) | |
| 6 | g.7583550dup | CA2573140817 | DSP | c.4959dup (p.Asp1654Ter) c.6288dup (p.Asp2097Ter) c.4491dup (p.Asp1498Ter) | ClinVar dbSNP |
| 6 | g.7583548T>A | CA362690473 | DSP | c.4957T>A (p.Phe1653Ile) c.6286T>A (p.Phe2096Ile) c.4489T>A (p.Phe1497Ile) | |
| 6 | g.7583548T>C | CA362690474 | DSP | c.4957T>C (p.Phe1653Leu) c.6286T>C (p.Phe2096Leu) c.4489T>C (p.Phe1497Leu) | |
| 6 | g.7583548T>G | CA362690475 | DSP | c.4957T>G (p.Phe1653Val) c.6286T>G (p.Phe2096Val) c.4489T>G (p.Phe1497Val) | |
| 6 | g.7583549T>A | CA362690478 | DSP | c.4958T>A (p.Phe1653Tyr) c.6287T>A (p.Phe2096Tyr) c.4490T>A (p.Phe1497Tyr) | |
| 6 | g.7583549T>C | CA362690476 | DSP | c.4958T>C (p.Phe1653Ser) c.6287T>C (p.Phe2096Ser) c.4490T>C (p.Phe1497Ser) | |
| 6 | g.7583549T>G | CA362690477 | DSP | c.4958T>G (p.Phe1653Cys) c.6287T>G (p.Phe2096Cys) c.4490T>G (p.Phe1497Cys) | |
| 6 | g.7583550T>A | CA362690479 | DSP | c.4959T>A (p.Phe1653Leu) c.6288T>A (p.Phe2096Leu) c.4491T>A (p.Phe1497Leu) | |
| 6 | g.7583550T>C | CA448716078 | DSP | c.4959T>C (p.Phe1653=) c.6288T>C (p.Phe2096=) c.4491T>C (p.Phe1497=) | |
| 6 | g.7583550T>G | CA362690480 | DSP | c.4959T>G (p.Phe1653Leu) c.6288T>G (p.Phe2096Leu) c.4491T>G (p.Phe1497Leu) | |
| 6 | g.7583551G>A | CA362690481 | DSP | c.4960G>A (p.Asp1654Asn) c.6289G>A (p.Asp2097Asn) c.4492G>A (p.Asp1498Asn) | |
| 6 | g.7583551G>C | CA362690482 | DSP | c.4960G>C (p.Asp1654His) c.6289G>C (p.Asp2097His) c.4492G>C (p.Asp1498His) | |
| 6 | g.7583551G>T | CA362690483 | DSP | c.4960G>T (p.Asp1654Tyr) c.6289G>T (p.Asp2097Tyr) c.4492G>T (p.Asp1498Tyr) | |
| 6 | g.7583552A= | CA1608608474 | DSP | c.4961A= (p.Asp1654=) c.6290A= (p.Asp2097=) c.4493A= (p.Asp1498=) | |
| 6 | g.7583552A>C | CA362690485 | DSP | c.4961A>C (p.Asp1654Ala) c.6290A>C (p.Asp2097Ala) c.4493A>C (p.Asp1498Ala) | ClinVar |
| 6 | g.7583552A>G | CA047225 | DSP | c.4961A>G (p.Asp1654Gly) c.6290A>G (p.Asp2097Gly) c.4493A>G (p.Asp1498Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7583552A>T | CA362690484 | DSP | c.4961A>T (p.Asp1654Val) c.6290A>T (p.Asp2097Val) c.4493A>T (p.Asp1498Val) | |
| 6 | g.7583553T>A | CA362690486 | DSP | c.4962T>A (p.Asp1654Glu) c.6291T>A (p.Asp2097Glu) c.4494T>A (p.Asp1498Glu) | |
| 6 | g.7583553T>C | CA448716080 | DSP | c.4962T>C (p.Asp1654=) c.6291T>C (p.Asp2097=) c.4494T>C (p.Asp1498=) | |
| 6 | g.7583553T>G | CA362690487 | DSP | c.4962T>G (p.Asp1654Glu) c.6291T>G (p.Asp2097Glu) c.4494T>G (p.Asp1498Glu) | |
| 6 | g.7583554G>A | CA362690488 | DSP | c.4963G>A (p.Asp1655Asn) c.6292G>A (p.Asp2098Asn) c.4495G>A (p.Asp1499Asn) | dbSNP gnomAD v4 COSMIC |
| 6 | g.7583554G>C | CA362690489 | DSP | c.4963G>C (p.Asp1655His) c.6292G>C (p.Asp2098His) c.4495G>C (p.Asp1499His) | |
| 6 | g.7583554G= | CA1608608478 | DSP | c.4963G= (p.Asp1655=) c.6292G= (p.Asp2098=) c.4495G= (p.Asp1499=) | |
| 6 | g.7583554G>T | CA362690490 | DSP | c.4963G>T (p.Asp1655Tyr) c.6292G>T (p.Asp2098Tyr) c.4495G>T (p.Asp1499Tyr) | COSMIC |
| 6 | g.7583555A= | CA1608608481 | DSP | c.4964A= (p.Asp1655=) c.6293A= (p.Asp2098=) c.4496A= (p.Asp1499=) | |
| 6 | g.7583555A>C | CA362690493 | DSP | c.4964A>C (p.Asp1655Ala) c.6293A>C (p.Asp2098Ala) c.4496A>C (p.Asp1499Ala) | |
| 6 | g.7583555A>G | CA362690492 | DSP | c.4964A>G (p.Asp1655Gly) c.6293A>G (p.Asp2098Gly) c.4496A>G (p.Asp1499Gly) | |
| 6 | g.7583555A>T | CA362690491 | DSP | c.4964A>T (p.Asp1655Val) c.6293A>T (p.Asp2098Val) c.4496A>T (p.Asp1499Val) | dbSNP |
| 6 | g.7583556T>A | CA362690494 | DSP | c.4965T>A (p.Asp1655Glu) c.6294T>A (p.Asp2098Glu) c.4497T>A (p.Asp1499Glu) | |
| 6 | g.7583556T>C | CA133974638 | DSP | c.4965T>C (p.Asp1655=) c.6294T>C (p.Asp2098=) c.4497T>C (p.Asp1499=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7583556T>G | CA362690495 | DSP | c.4965T>G (p.Asp1655Glu) c.6294T>G (p.Asp2098Glu) c.4497T>G (p.Asp1499Glu) | |
| 6 | g.7583556T= | CA1608608484 | DSP | c.4965T= (p.Asp1655=) c.6294T= (p.Asp2098=) c.4497T= (p.Asp1499=) | |
| 6 | g.7583557C>A | CA047239 | DSP | c.4966C>A (p.Pro1656Thr) c.6295C>A (p.Pro2099Thr) c.4498C>A (p.Pro1500Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583557C= | CA1608608487 | DSP | c.4966C= (p.Pro1656=) c.6295C= (p.Pro2099=) c.4498C= (p.Pro1500=) | |
| 6 | g.7583557C>G | CA362690496 | DSP | c.4966C>G (p.Pro1656Ala) c.6295C>G (p.Pro2099Ala) c.4498C>G (p.Pro1500Ala) | |
| 6 | g.7583557C>T | CA362690497 | DSP | c.4966C>T (p.Pro1656Ser) c.6295C>T (p.Pro2099Ser) c.4498C>T (p.Pro1500Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7583557_7583558delinsAT | CA006811 | DSP | c.4966_4967delinsAT (p.Pro1656Ile) c.6295_6296delinsAT (p.Pro2099Ile) c.4498_4499delinsAT (p.Pro1500Ile) | ClinVar dbSNP |
| 6 | g.7583557_7583558delinsCC | CA1608608488 | DSP | c.4966_4967delinsCC (p.Pro1656=) c.6295_6296delinsCC (p.Pro2099=) c.4498_4499delinsCC (p.Pro1500=) | |
| 6 | g.7583558C>A | CA362690498 | DSP | c.4967C>A (p.Pro1656Gln) c.6296C>A (p.Pro2099Gln) c.4499C>A (p.Pro1500Gln) | |
| 6 | g.7583558C= | CA1608608492 | DSP | c.4967C= (p.Pro1656=) c.6296C= (p.Pro2099=) c.4499C= (p.Pro1500=) | |
| 6 | g.7583558C>G | CA362690499 | DSP | c.4967C>G (p.Pro1656Arg) c.6296C>G (p.Pro2099Arg) c.4499C>G (p.Pro1500Arg) | |
| 6 | g.7583558C>T | CA047248 | DSP | c.4967C>T (p.Pro1656Leu) c.6296C>T (p.Pro2099Leu) c.4499C>T (p.Pro1500Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583559A= | CA1608608501 | DSP | c.4968A= (p.Pro1656=) c.6297A= (p.Pro2099=) c.4500A= (p.Pro1500=) | |
| 6 | g.7583559A>C | CA448716082 | DSP | c.4968A>C (p.Pro1656=) c.6297A>C (p.Pro2099=) c.4500A>C (p.Pro1500=) | |
| 6 | g.7583559A>G | CA448716083 | DSP | c.4968A>G (p.Pro1656=) c.6297A>G (p.Pro2099=) c.4500A>G (p.Pro1500=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7583559A>T | CA448716084 | DSP | c.4968A>T (p.Pro1656=) c.6297A>T (p.Pro2099=) c.4500A>T (p.Pro1500=) | |
| 6 | g.7583560T>A | CA362690500 | DSP | c.4969T>A (p.Phe1657Ile) c.6298T>A (p.Phe2100Ile) c.4501T>A (p.Phe1501Ile) | |
| 6 | g.7583560T>C | CA362690501 | DSP | c.4969T>C (p.Phe1657Leu) c.6298T>C (p.Phe2100Leu) c.4501T>C (p.Phe1501Leu) | |
| 6 | g.7583560T>G | CA362690502 | DSP | c.4969T>G (p.Phe1657Val) c.6298T>G (p.Phe2100Val) c.4501T>G (p.Phe1501Val) | |
| 6 | g.7583561T>A | CA362690503 | DSP | c.4970T>A (p.Phe1657Tyr) c.6299T>A (p.Phe2100Tyr) c.4502T>A (p.Phe1501Tyr) | |
| 6 | g.7583561T>C | CA362690504 | DSP | c.4970T>C (p.Phe1657Ser) c.6299T>C (p.Phe2100Ser) c.4502T>C (p.Phe1501Ser) | |
| 6 | g.7583561T>G | CA362690505 | DSP | c.4970T>G (p.Phe1657Cys) c.6299T>G (p.Phe2100Cys) c.4502T>G (p.Phe1501Cys) | |
| 6 | g.7583562T>A | CA362690507 | DSP | c.4971T>A (p.Phe1657Leu) c.6300T>A (p.Phe2100Leu) c.4503T>A (p.Phe1501Leu) | |
| 6 | g.7583562T>C | CA448716085 | DSP | c.4971T>C (p.Phe1657=) c.6300T>C (p.Phe2100=) c.4503T>C (p.Phe1501=) | |
| 6 | g.7583562T>G | CA362690506 | DSP | c.4971T>G (p.Phe1657Leu) c.6300T>G (p.Phe2100Leu) c.4503T>G (p.Phe1501Leu) | |
| 6 | g.7583563T>A | CA362690508 | DSP | c.4972T>A (p.Ser1658Thr) c.6301T>A (p.Ser2101Thr) c.4504T>A (p.Ser1502Thr) | |
| 6 | g.7583563T>C | CA362690509 | DSP | c.4972T>C (p.Ser1658Pro) c.6301T>C (p.Ser2101Pro) c.4504T>C (p.Ser1502Pro) | |
| 6 | g.7583563T>G | CA362690510 | DSP | c.4972T>G (p.Ser1658Ala) c.6301T>G (p.Ser2101Ala) c.4504T>G (p.Ser1502Ala) | |
| 6 | g.7583564C>A | CA362690511 | DSP | c.4973C>A (p.Ser1658Ter) c.6302C>A (p.Ser2101Ter) c.4505C>A (p.Ser1502Ter) | |
| 6 | g.7583564C>G | CA362690512 | DSP | c.4973C>G (p.Ser1658Ter) c.6302C>G (p.Ser2101Ter) c.4505C>G (p.Ser1502Ter) | |
| 6 | g.7583564C>T | CA362690513 | DSP | c.4973C>T (p.Ser1658Leu) c.6302C>T (p.Ser2101Leu) c.4505C>T (p.Ser1502Leu) | COSMIC |
| 6 | g.7583565A>C | CA448716087 | DSP | c.4974A>C (p.Ser1658=) c.6303A>C (p.Ser2101=) c.4506A>C (p.Ser1502=) | |
| 6 | g.7583565A>G | CA448716088 | DSP | c.4974A>G (p.Ser1658=) c.6303A>G (p.Ser2101=) c.4506A>G (p.Ser1502=) | COSMIC |
| 6 | g.7583565A>T | CA448716089 | DSP | c.4974A>T (p.Ser1658=) c.6303A>T (p.Ser2101=) c.4506A>T (p.Ser1502=) | |
| 6 | g.7583566G>A | CA362690514 | DSP | c.4975G>A (p.Gly1659Ser) c.6304G>A (p.Gly2102Ser) c.4507G>A (p.Gly1503Ser) | |
| 6 | g.7583566G>C | CA362690516 | DSP | c.4975G>C (p.Gly1659Arg) c.6304G>C (p.Gly2102Arg) c.4507G>C (p.Gly1503Arg) | |
| 6 | g.7583566G>T | CA362690515 | DSP | c.4975G>T (p.Gly1659Cys) c.6304G>T (p.Gly2102Cys) c.4507G>T (p.Gly1503Cys) | |
| 6 | g.7583567G>A | CA362690517 | DSP | c.4976G>A (p.Gly1659Asp) c.6305G>A (p.Gly2102Asp) c.4508G>A (p.Gly1503Asp) | gnomAD v4 |
| 6 | g.7583567G>C | CA006826 | DSP | c.4976G>C (p.Gly1659Ala) c.6305G>C (p.Gly2102Ala) c.4508G>C (p.Gly1503Ala) | ClinVar dbSNP |
| 6 | g.7583567G= | CA1608608508 | DSP | c.4976G= (p.Gly1659=) c.6305G= (p.Gly2102=) c.4508G= (p.Gly1503=) | |
| 6 | g.7583567G>T | CA047267 | DSP | c.4976G>T (p.Gly1659Val) c.6305G>T (p.Gly2102Val) c.4508G>T (p.Gly1503Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583568C>A | CA448716092 | DSP | c.4977C>A (p.Gly1659=) c.6306C>A (p.Gly2102=) c.4509C>A (p.Gly1503=) | gnomAD v4 |
| 6 | g.7583568C>G | CA448716093 | DSP | c.4977C>G (p.Gly1659=) c.6306C>G (p.Gly2102=) c.4509C>G (p.Gly1503=) | |
| 6 | g.7583568C>T | CA448716094 | DSP | c.4977C>T (p.Gly1659=) c.6306C>T (p.Gly2102=) c.4509C>T (p.Gly1503=) | ClinVar |
| 6 | g.7583569A= | CA1608608516 | DSP | c.4978A= (p.Lys1660=) c.6307A= (p.Lys2103=) c.4510A= (p.Lys1504=) | |
| 6 | g.7583569A>C | CA362690518 | DSP | c.4978A>C (p.Lys1660Gln) c.6307A>C (p.Lys2103Gln) c.4510A>C (p.Lys1504Gln) | |
| 6 | g.7583569A>G | CA006835 | DSP | c.4978A>G (p.Lys1660Glu) c.6307A>G (p.Lys2103Glu) c.4510A>G (p.Lys1504Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583569A>T | CA362690519 | DSP | c.4978A>T (p.Lys1660Ter) c.6307A>T (p.Lys2103Ter) c.4510A>T (p.Lys1504Ter) | |
| 6 | g.7583570A>C | CA362690520 | DSP | c.4979A>C (p.Lys1660Thr) c.6308A>C (p.Lys2103Thr) c.4511A>C (p.Lys1504Thr) | |
| 6 | g.7583570A>G | CA362690521 | DSP | c.4979A>G (p.Lys1660Arg) c.6308A>G (p.Lys2103Arg) c.4511A>G (p.Lys1504Arg) | |
| 6 | g.7583570A>T | CA362690522 | DSP | c.4979A>T (p.Lys1660Met) c.6308A>T (p.Lys2103Met) c.4511A>T (p.Lys1504Met) | |
| 6 | g.7583571G>A | CA448716095 | DSP | c.4980G>A (p.Lys1660=) c.6309G>A (p.Lys2103=) c.4512G>A (p.Lys1504=) | |
| 6 | g.7583571G>C | CA362690523 | DSP | c.4980G>C (p.Lys1660Asn) c.6309G>C (p.Lys2103Asn) c.4512G>C (p.Lys1504Asn) | |
| 6 | g.7583571G>T | CA362690524 | DSP | c.4980G>T (p.Lys1660Asn) c.6309G>T (p.Lys2103Asn) c.4512G>T (p.Lys1504Asn) | |
| 6 | g.7583571_7583572delinsGA | CA1608608522 | DSP | c.4980_4981delinsGA (p.Lys1660=) c.6309_6310delinsGA (p.Lys2103=) c.4512_4513delinsGA (p.Lys1504=) | |
| 6 | g.7583572del | CA006845 | DSP | c.4981del (p.Thr1661GlnfsTer12) c.6310del (p.Thr2104GlnfsTer12) c.4513del (p.Thr1505GlnfsTer12) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583572A= | CA1608608531 | DSP | c.4981A= (p.Thr1661=) c.6310A= (p.Thr2104=) c.4513A= (p.Thr1505=) | |
| 6 | g.7583572A>C | CA362690525 | DSP | c.4981A>C (p.Thr1661Pro) c.6310A>C (p.Thr2104Pro) c.4513A>C (p.Thr1505Pro) | |
| 6 | g.7583572A>G | CA362690526 | DSP | c.4981A>G (p.Thr1661Ala) c.6310A>G (p.Thr2104Ala) c.4513A>G (p.Thr1505Ala) | dbSNP gnomAD v4 |
| 6 | g.7583572A>T | CA362690527 | DSP | c.4981A>T (p.Thr1661Ser) c.6310A>T (p.Thr2104Ser) c.4513A>T (p.Thr1505Ser) | |
| 6 | g.7583573C>A | CA362690529 | DSP | c.4982C>A (p.Thr1661Lys) c.6311C>A (p.Thr2104Lys) c.4514C>A (p.Thr1505Lys) | |
| 6 | g.7583573C>G | CA362690528 | DSP | c.4982C>G (p.Thr1661Arg) c.6311C>G (p.Thr2104Arg) c.4514C>G (p.Thr1505Arg) | |
| 6 | g.7583573C>T | CA362690530 | DSP | c.4982C>T (p.Thr1661Ile) c.6311C>T (p.Thr2104Ile) c.4514C>T (p.Thr1505Ile) | |
| 6 | g.7583574A= | CA1608608545 | DSP | c.4983A= (p.Thr1661=) c.6312A= (p.Thr2104=) c.4515A= (p.Thr1505=) | |
| 6 | g.7583574A>C | CA448716098 | DSP | c.4983A>C (p.Thr1661=) c.6312A>C (p.Thr2104=) c.4515A>C (p.Thr1505=) | |
| 6 | g.7583574A>G | CA133974690 | DSP | c.4983A>G (p.Thr1661=) c.6312A>G (p.Thr2104=) c.4515A>G (p.Thr1505=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7583574A>T | CA448716100 | DSP | c.4983A>T (p.Thr1661=) c.6312A>T (p.Thr2104=) c.4515A>T (p.Thr1505=) | |
| 6 | g.7583575G>A | CA362690532 | DSP | c.4984G>A (p.Val1662Ile) c.6313G>A (p.Val2105Ile) c.4516G>A (p.Val1506Ile) | |
| 6 | g.7583575G>C | CA362690531 | DSP | c.4984G>C (p.Val1662Leu) c.6313G>C (p.Val2105Leu) c.4516G>C (p.Val1506Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7583575G= | CA1608608558 | DSP | c.4984G= (p.Val1662=) c.6313G= (p.Val2105=) c.4516G= (p.Val1506=) | |
| 6 | g.7583575G>T | CA362690533 | DSP | c.4984G>T (p.Val1662Leu) c.6313G>T (p.Val2105Leu) c.4516G>T (p.Val1506Leu) | |
| 6 | g.7583576T>A | CA362690534 | DSP | c.4985T>A (p.Val1662Glu) c.6314T>A (p.Val2105Glu) c.4517T>A (p.Val1506Glu) | |
| 6 | g.7583576T>C | CA362690535 | DSP | c.4985T>C (p.Val1662Ala) c.6314T>C (p.Val2105Ala) c.4517T>C (p.Val1506Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7583576T>G | CA362690536 | DSP | c.4985T>G (p.Val1662Gly) c.6314T>G (p.Val2105Gly) c.4517T>G (p.Val1506Gly) | COSMIC |
| 6 | g.7583576T= | CA1608608563 | DSP | c.4985T= (p.Val1662=) c.6314T= (p.Val2105=) c.4517T= (p.Val1506=) | |
| 6 | g.7583577A= | CA1608608567 | DSP | c.4986A= (p.Val1662=) c.6315A= (p.Val2105=) c.4518A= (p.Val1506=) | |
| 6 | g.7583577A>C | CA448716109 | DSP | c.4986A>C (p.Val1662=) c.6315A>C (p.Val2105=) c.4518A>C (p.Val1506=) | |
| 6 | g.7583577A>G | CA448716106 | DSP | c.4986A>G (p.Val1662=) c.6315A>G (p.Val2105=) c.4518A>G (p.Val1506=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7583577A>T | CA448716107 | DSP | c.4986A>T (p.Val1662=) c.6315A>T (p.Val2105=) c.4518A>T (p.Val1506=) | |
| 6 | g.7583578T>A | CA362690537 | DSP | c.4987T>A (p.Ser1663Thr) c.6316T>A (p.Ser2106Thr) c.4519T>A (p.Ser1507Thr) | |
| 6 | g.7583578T>C | CA362690538 | DSP | c.4987T>C (p.Ser1663Pro) c.6316T>C (p.Ser2106Pro) c.4519T>C (p.Ser1507Pro) | gnomAD v4 |
| 6 | g.7583578T>G | CA362690539 | DSP | c.4987T>G (p.Ser1663Ala) c.6316T>G (p.Ser2106Ala) c.4519T>G (p.Ser1507Ala) | |
| 6 | g.7583579C>A | CA362690540 | DSP | c.4988C>A (p.Ser1663Tyr) c.6317C>A (p.Ser2106Tyr) c.4520C>A (p.Ser1507Tyr) | |
| 6 | g.7583579C>G | CA362690541 | DSP | c.4988C>G (p.Ser1663Cys) c.6317C>G (p.Ser2106Cys) c.4520C>G (p.Ser1507Cys) | gnomAD v4 |
| 6 | g.7583579C>T | CA362690542 | DSP | c.4988C>T (p.Ser1663Phe) c.6317C>T (p.Ser2106Phe) c.4520C>T (p.Ser1507Phe) | |
| 6 | g.7583580del | CA913188225 | DSP | c.4989del (p.Val1664PhefsTer9) c.6318del (p.Val2107PhefsTer9) c.4521del (p.Val1508PhefsTer9) | ClinVar dbSNP |
| 6 | g.7583580T>A | CA448716117 | DSP | c.4989T>A (p.Ser1663=) c.6318T>A (p.Ser2106=) c.4521T>A (p.Ser1507=) | COSMIC |
| 6 | g.7583580T>C | CA448716116 | DSP | c.4989T>C (p.Ser1663=) c.6318T>C (p.Ser2106=) c.4521T>C (p.Ser1507=) | |
| 6 | g.7583580T>G | CA448716115 | DSP | c.4989T>G (p.Ser1663=) c.6318T>G (p.Ser2106=) c.4521T>G (p.Ser1507=) | |
| 6 | g.7583581G>A | CA362690543 | DSP | c.4990G>A (p.Val1664Ile) c.6319G>A (p.Val2107Ile) c.4522G>A (p.Val1508Ile) | |
| 6 | g.7583581G>C | CA006855 | DSP | c.4990G>C (p.Val1664Leu) c.6319G>C (p.Val2107Leu) c.4522G>C (p.Val1508Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7583581G= | CA1608608572 | DSP | c.4990G= (p.Val1664=) c.6319G= (p.Val2107=) c.4522G= (p.Val1508=) | |
| 6 | g.7583581G>T | CA362690544 | DSP | c.4990G>T (p.Val1664Phe) c.6319G>T (p.Val2107Phe) c.4522G>T (p.Val1508Phe) | |
| 6 | g.7583582T>A | CA362690547 | DSP | c.4991T>A (p.Val1664Asp) c.6320T>A (p.Val2107Asp) c.4523T>A (p.Val1508Asp) | |
| 6 | g.7583582T>C | CA362690545 | DSP | c.4991T>C (p.Val1664Ala) c.6320T>C (p.Val2107Ala) c.4523T>C (p.Val1508Ala) | |
| 6 | g.7583582T>G | CA362690546 | DSP | c.4991T>G (p.Val1664Gly) c.6320T>G (p.Val2107Gly) c.4523T>G (p.Val1508Gly) | |
| 6 | g.7583583T>A | CA448716122 | DSP | c.4992T>A (p.Val1664=) c.6321T>A (p.Val2107=) c.4524T>A (p.Val1508=) | |
| 6 | g.7583583T>C | CA448716124 | DSP | c.4992T>C (p.Val1664=) c.6321T>C (p.Val2107=) c.4524T>C (p.Val1508=) | |
| 6 | g.7583583T>G | CA448716123 | DSP | c.4992T>G (p.Val1664=) c.6321T>G (p.Val2107=) c.4524T>G (p.Val1508=) | |
| 6 | g.7583584T>A | CA362690548 | DSP | c.4993T>A (p.Ser1665Thr) c.6322T>A (p.Ser2108Thr) c.4525T>A (p.Ser1509Thr) | |
| 6 | g.7583584T>C | CA362690549 | DSP | c.4993T>C (p.Ser1665Pro) c.6322T>C (p.Ser2108Pro) c.4525T>C (p.Ser1509Pro) | |
| 6 | g.7583584T>G | CA362690550 | DSP | c.4993T>G (p.Ser1665Ala) c.6322T>G (p.Ser2108Ala) c.4525T>G (p.Ser1509Ala) | gnomAD v4 |