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.56555644A>C | CA364519354 | DST | c.7946T>G (p.Ile2649Ser) c.8480T>G (p.Ile2827Ser) c.8066T>G (p.Ile2689Ser) n.808T>G c.14837T>G (p.Ile4946Ser) c.6968T>G (p.Ile2323Ser) c.14204T>G (p.Ile4735Ser) n.546T>G c.14738T>G (p.Ile4913Ser) c.14552T>G (p.Ile4851Ser) c.14423T>G (p.Ile4808Ser) c.14324T>G (p.Ile4775Ser) c.14303T>G (p.Ile4768Ser) c.14282T>G (p.Ile4761Ser) c.13226T>G (p.Ile4409Ser) c.14765T>G (p.Ile4922Ser) c.8507T>G (p.Ile2836Ser) c.14864T>G (p.Ile4955Ser) c.14801T>G (p.Ile4934Ser) c.14630T>G (p.Ile4877Ser) c.14240T>G (p.Ile4747Ser) c.9431T>G (p.Ile3144Ser) c.8606T>G (p.Ile2869Ser) c.8372T>G (p.Ile2791Ser) c.8294T>G (p.Ile2765Ser) c.14183T>G (p.Ile4728Ser) | |
| 6 | g.56555644A>G | CA364519355 | DST | c.7946T>C (p.Ile2649Thr) c.8480T>C (p.Ile2827Thr) c.8066T>C (p.Ile2689Thr) n.808T>C c.14837T>C (p.Ile4946Thr) c.6968T>C (p.Ile2323Thr) c.14204T>C (p.Ile4735Thr) n.546T>C c.14738T>C (p.Ile4913Thr) c.14552T>C (p.Ile4851Thr) c.14423T>C (p.Ile4808Thr) c.14324T>C (p.Ile4775Thr) c.14303T>C (p.Ile4768Thr) c.14282T>C (p.Ile4761Thr) c.13226T>C (p.Ile4409Thr) c.14765T>C (p.Ile4922Thr) c.8507T>C (p.Ile2836Thr) c.14864T>C (p.Ile4955Thr) c.14801T>C (p.Ile4934Thr) c.14630T>C (p.Ile4877Thr) c.14240T>C (p.Ile4747Thr) c.9431T>C (p.Ile3144Thr) c.8606T>C (p.Ile2869Thr) c.8372T>C (p.Ile2791Thr) c.8294T>C (p.Ile2765Thr) c.14183T>C (p.Ile4728Thr) | gnomAD v4 |
| 6 | g.56555644A>T | CA364519357 | DST | c.7946T>A (p.Ile2649Asn) c.8480T>A (p.Ile2827Asn) c.8066T>A (p.Ile2689Asn) n.808T>A c.14837T>A (p.Ile4946Asn) c.6968T>A (p.Ile2323Asn) c.14204T>A (p.Ile4735Asn) n.546T>A c.14738T>A (p.Ile4913Asn) c.14552T>A (p.Ile4851Asn) c.14423T>A (p.Ile4808Asn) c.14324T>A (p.Ile4775Asn) c.14303T>A (p.Ile4768Asn) c.14282T>A (p.Ile4761Asn) c.13226T>A (p.Ile4409Asn) c.14765T>A (p.Ile4922Asn) c.8507T>A (p.Ile2836Asn) c.14864T>A (p.Ile4955Asn) c.14801T>A (p.Ile4934Asn) c.14630T>A (p.Ile4877Asn) c.14240T>A (p.Ile4747Asn) c.9431T>A (p.Ile3144Asn) c.8606T>A (p.Ile2869Asn) c.8372T>A (p.Ile2791Asn) c.8294T>A (p.Ile2765Asn) c.14183T>A (p.Ile4728Asn) | |
| 6 | g.56555645T>A | CA364519361 | DST | c.7945A>T (p.Ile2649Phe) c.8479A>T (p.Ile2827Phe) c.8065A>T (p.Ile2689Phe) n.807A>T c.14836A>T (p.Ile4946Phe) c.6967A>T (p.Ile2323Phe) c.14203A>T (p.Ile4735Phe) n.545A>T c.14737A>T (p.Ile4913Phe) c.14551A>T (p.Ile4851Phe) c.14422A>T (p.Ile4808Phe) c.14323A>T (p.Ile4775Phe) c.14302A>T (p.Ile4768Phe) c.14281A>T (p.Ile4761Phe) c.13225A>T (p.Ile4409Phe) c.14764A>T (p.Ile4922Phe) c.8506A>T (p.Ile2836Phe) c.14863A>T (p.Ile4955Phe) c.14800A>T (p.Ile4934Phe) c.14629A>T (p.Ile4877Phe) c.14239A>T (p.Ile4747Phe) c.9430A>T (p.Ile3144Phe) c.8605A>T (p.Ile2869Phe) c.8371A>T (p.Ile2791Phe) c.8293A>T (p.Ile2765Phe) c.14182A>T (p.Ile4728Phe) | |
| 6 | g.56555645T>C | CA3867918 | DST | c.7945A>G (p.Ile2649Val) c.8479A>G (p.Ile2827Val) c.8065A>G (p.Ile2689Val) n.807A>G c.14836A>G (p.Ile4946Val) c.6967A>G (p.Ile2323Val) c.14203A>G (p.Ile4735Val) n.545A>G c.14737A>G (p.Ile4913Val) c.14551A>G (p.Ile4851Val) c.14422A>G (p.Ile4808Val) c.14323A>G (p.Ile4775Val) c.14302A>G (p.Ile4768Val) c.14281A>G (p.Ile4761Val) c.13225A>G (p.Ile4409Val) c.14764A>G (p.Ile4922Val) c.8506A>G (p.Ile2836Val) c.14863A>G (p.Ile4955Val) c.14800A>G (p.Ile4934Val) c.14629A>G (p.Ile4877Val) c.14239A>G (p.Ile4747Val) c.9430A>G (p.Ile3144Val) c.8605A>G (p.Ile2869Val) c.8371A>G (p.Ile2791Val) c.8293A>G (p.Ile2765Val) c.14182A>G (p.Ile4728Val) | dbSNP ExAC gnomAD v2 |
| 6 | g.56555645T>G | CA364519359 | DST | c.7945A>C (p.Ile2649Leu) c.8479A>C (p.Ile2827Leu) c.8065A>C (p.Ile2689Leu) n.807A>C c.14836A>C (p.Ile4946Leu) c.6967A>C (p.Ile2323Leu) c.14203A>C (p.Ile4735Leu) n.545A>C c.14737A>C (p.Ile4913Leu) c.14551A>C (p.Ile4851Leu) c.14422A>C (p.Ile4808Leu) c.14323A>C (p.Ile4775Leu) c.14302A>C (p.Ile4768Leu) c.14281A>C (p.Ile4761Leu) c.13225A>C (p.Ile4409Leu) c.14764A>C (p.Ile4922Leu) c.8506A>C (p.Ile2836Leu) c.14863A>C (p.Ile4955Leu) c.14800A>C (p.Ile4934Leu) c.14629A>C (p.Ile4877Leu) c.14239A>C (p.Ile4747Leu) c.9430A>C (p.Ile3144Leu) c.8605A>C (p.Ile2869Leu) c.8371A>C (p.Ile2791Leu) c.8293A>C (p.Ile2765Leu) c.14182A>C (p.Ile4728Leu) | |
| 6 | g.56555645T= | CA1630147843 | DST | c.7945A= (p.Ile2649=) c.8479A= (p.Ile2827=) c.8065A= (p.Ile2689=) n.807A= c.14836A= (p.Ile4946=) c.6967A= (p.Ile2323=) c.14203A= (p.Ile4735=) n.545A= c.14737A= (p.Ile4913=) c.14551A= (p.Ile4851=) c.14422A= (p.Ile4808=) c.14323A= (p.Ile4775=) c.14302A= (p.Ile4768=) c.14281A= (p.Ile4761=) c.13225A= (p.Ile4409=) c.14764A= (p.Ile4922=) c.8506A= (p.Ile2836=) c.14863A= (p.Ile4955=) c.14800A= (p.Ile4934=) c.14629A= (p.Ile4877=) c.14239A= (p.Ile4747=) c.9430A= (p.Ile3144=) c.8605A= (p.Ile2869=) c.8371A= (p.Ile2791=) c.8293A= (p.Ile2765=) c.14182A= (p.Ile4728=) | |
| 6 | g.56555646G>A | CA450620388 | DST | c.7944C>T (p.Ala2648=) c.8478C>T (p.Ala2826=) c.8064C>T (p.Ala2688=) n.806C>T c.14835C>T (p.Ala4945=) c.6966C>T (p.Ala2322=) c.14202C>T (p.Ala4734=) n.544C>T c.14736C>T (p.Ala4912=) c.14550C>T (p.Ala4850=) c.14421C>T (p.Ala4807=) c.14322C>T (p.Ala4774=) c.14301C>T (p.Ala4767=) c.14280C>T (p.Ala4760=) c.13224C>T (p.Ala4408=) c.14763C>T (p.Ala4921=) c.8505C>T (p.Ala2835=) c.14862C>T (p.Ala4954=) c.14799C>T (p.Ala4933=) c.14628C>T (p.Ala4876=) c.14238C>T (p.Ala4746=) c.9429C>T (p.Ala3143=) c.8604C>T (p.Ala2868=) c.8370C>T (p.Ala2790=) c.8292C>T (p.Ala2764=) c.14181C>T (p.Ala4727=) | |
| 6 | g.56555646G>C | CA450620392 | DST | c.7944C>G (p.Ala2648=) c.8478C>G (p.Ala2826=) c.8064C>G (p.Ala2688=) n.806C>G c.14835C>G (p.Ala4945=) c.6966C>G (p.Ala2322=) c.14202C>G (p.Ala4734=) n.544C>G c.14736C>G (p.Ala4912=) c.14550C>G (p.Ala4850=) c.14421C>G (p.Ala4807=) c.14322C>G (p.Ala4774=) c.14301C>G (p.Ala4767=) c.14280C>G (p.Ala4760=) c.13224C>G (p.Ala4408=) c.14763C>G (p.Ala4921=) c.8505C>G (p.Ala2835=) c.14862C>G (p.Ala4954=) c.14799C>G (p.Ala4933=) c.14628C>G (p.Ala4876=) c.14238C>G (p.Ala4746=) c.9429C>G (p.Ala3143=) c.8604C>G (p.Ala2868=) c.8370C>G (p.Ala2790=) c.8292C>G (p.Ala2764=) c.14181C>G (p.Ala4727=) | |
| 6 | g.56555646G>T | CA450620391 | DST | c.7944C>A (p.Ala2648=) c.8478C>A (p.Ala2826=) c.8064C>A (p.Ala2688=) n.806C>A c.14835C>A (p.Ala4945=) c.6966C>A (p.Ala2322=) c.14202C>A (p.Ala4734=) n.544C>A c.14736C>A (p.Ala4912=) c.14550C>A (p.Ala4850=) c.14421C>A (p.Ala4807=) c.14322C>A (p.Ala4774=) c.14301C>A (p.Ala4767=) c.14280C>A (p.Ala4760=) c.13224C>A (p.Ala4408=) c.14763C>A (p.Ala4921=) c.8505C>A (p.Ala2835=) c.14862C>A (p.Ala4954=) c.14799C>A (p.Ala4933=) c.14628C>A (p.Ala4876=) c.14238C>A (p.Ala4746=) c.9429C>A (p.Ala3143=) c.8604C>A (p.Ala2868=) c.8370C>A (p.Ala2790=) c.8292C>A (p.Ala2764=) c.14181C>A (p.Ala4727=) | |
| 6 | g.56555647G>A | CA364519364 | DST | c.7943C>T (p.Ala2648Val) c.8477C>T (p.Ala2826Val) c.8063C>T (p.Ala2688Val) n.805C>T c.14834C>T (p.Ala4945Val) c.6965C>T (p.Ala2322Val) c.14201C>T (p.Ala4734Val) n.543C>T c.14735C>T (p.Ala4912Val) c.14549C>T (p.Ala4850Val) c.14420C>T (p.Ala4807Val) c.14321C>T (p.Ala4774Val) c.14300C>T (p.Ala4767Val) c.14279C>T (p.Ala4760Val) c.13223C>T (p.Ala4408Val) c.14762C>T (p.Ala4921Val) c.8504C>T (p.Ala2835Val) c.14861C>T (p.Ala4954Val) c.14798C>T (p.Ala4933Val) c.14627C>T (p.Ala4876Val) c.14237C>T (p.Ala4746Val) c.9428C>T (p.Ala3143Val) c.8603C>T (p.Ala2868Val) c.8369C>T (p.Ala2790Val) c.8291C>T (p.Ala2764Val) c.14180C>T (p.Ala4727Val) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.56555647G>C | CA364519365 | DST | c.7943C>G (p.Ala2648Gly) c.8477C>G (p.Ala2826Gly) c.8063C>G (p.Ala2688Gly) n.805C>G c.14834C>G (p.Ala4945Gly) c.6965C>G (p.Ala2322Gly) c.14201C>G (p.Ala4734Gly) n.543C>G c.14735C>G (p.Ala4912Gly) c.14549C>G (p.Ala4850Gly) c.14420C>G (p.Ala4807Gly) c.14321C>G (p.Ala4774Gly) c.14300C>G (p.Ala4767Gly) c.14279C>G (p.Ala4760Gly) c.13223C>G (p.Ala4408Gly) c.14762C>G (p.Ala4921Gly) c.8504C>G (p.Ala2835Gly) c.14861C>G (p.Ala4954Gly) c.14798C>G (p.Ala4933Gly) c.14627C>G (p.Ala4876Gly) c.14237C>G (p.Ala4746Gly) c.9428C>G (p.Ala3143Gly) c.8603C>G (p.Ala2868Gly) c.8369C>G (p.Ala2790Gly) c.8291C>G (p.Ala2764Gly) c.14180C>G (p.Ala4727Gly) | |
| 6 | g.56555647G= | CA1630147844 | DST | c.7943C= (p.Ala2648=) c.8477C= (p.Ala2826=) c.8063C= (p.Ala2688=) n.805C= c.14834C= (p.Ala4945=) c.6965C= (p.Ala2322=) c.14201C= (p.Ala4734=) n.543C= c.14735C= (p.Ala4912=) c.14549C= (p.Ala4850=) c.14420C= (p.Ala4807=) c.14321C= (p.Ala4774=) c.14300C= (p.Ala4767=) c.14279C= (p.Ala4760=) c.13223C= (p.Ala4408=) c.14762C= (p.Ala4921=) c.8504C= (p.Ala2835=) c.14861C= (p.Ala4954=) c.14798C= (p.Ala4933=) c.14627C= (p.Ala4876=) c.14237C= (p.Ala4746=) c.9428C= (p.Ala3143=) c.8603C= (p.Ala2868=) c.8369C= (p.Ala2790=) c.8291C= (p.Ala2764=) c.14180C= (p.Ala4727=) | |
| 6 | g.56555647G>T | CA364519367 | DST | c.7943C>A (p.Ala2648Asp) c.8477C>A (p.Ala2826Asp) c.8063C>A (p.Ala2688Asp) n.805C>A c.14834C>A (p.Ala4945Asp) c.6965C>A (p.Ala2322Asp) c.14201C>A (p.Ala4734Asp) n.543C>A c.14735C>A (p.Ala4912Asp) c.14549C>A (p.Ala4850Asp) c.14420C>A (p.Ala4807Asp) c.14321C>A (p.Ala4774Asp) c.14300C>A (p.Ala4767Asp) c.14279C>A (p.Ala4760Asp) c.13223C>A (p.Ala4408Asp) c.14762C>A (p.Ala4921Asp) c.8504C>A (p.Ala2835Asp) c.14861C>A (p.Ala4954Asp) c.14798C>A (p.Ala4933Asp) c.14627C>A (p.Ala4876Asp) c.14237C>A (p.Ala4746Asp) c.9428C>A (p.Ala3143Asp) c.8603C>A (p.Ala2868Asp) c.8369C>A (p.Ala2790Asp) c.8291C>A (p.Ala2764Asp) c.14180C>A (p.Ala4727Asp) | |
| 6 | g.56555648C>A | CA364519369 | DST | c.7942G>T (p.Ala2648Ser) c.8476G>T (p.Ala2826Ser) c.8062G>T (p.Ala2688Ser) n.804G>T c.14833G>T (p.Ala4945Ser) c.6964G>T (p.Ala2322Ser) c.14200G>T (p.Ala4734Ser) n.542G>T c.14734G>T (p.Ala4912Ser) c.14548G>T (p.Ala4850Ser) c.14419G>T (p.Ala4807Ser) c.14320G>T (p.Ala4774Ser) c.14299G>T (p.Ala4767Ser) c.14278G>T (p.Ala4760Ser) c.13222G>T (p.Ala4408Ser) c.14761G>T (p.Ala4921Ser) c.8503G>T (p.Ala2835Ser) c.14860G>T (p.Ala4954Ser) c.14797G>T (p.Ala4933Ser) c.14626G>T (p.Ala4876Ser) c.14236G>T (p.Ala4746Ser) c.9427G>T (p.Ala3143Ser) c.8602G>T (p.Ala2868Ser) c.8368G>T (p.Ala2790Ser) c.8290G>T (p.Ala2764Ser) c.14179G>T (p.Ala4727Ser) | |
| 6 | g.56555648C>G | CA364519371 | DST | c.7942G>C (p.Ala2648Pro) c.8476G>C (p.Ala2826Pro) c.8062G>C (p.Ala2688Pro) n.804G>C c.14833G>C (p.Ala4945Pro) c.6964G>C (p.Ala2322Pro) c.14200G>C (p.Ala4734Pro) n.542G>C c.14734G>C (p.Ala4912Pro) c.14548G>C (p.Ala4850Pro) c.14419G>C (p.Ala4807Pro) c.14320G>C (p.Ala4774Pro) c.14299G>C (p.Ala4767Pro) c.14278G>C (p.Ala4760Pro) c.13222G>C (p.Ala4408Pro) c.14761G>C (p.Ala4921Pro) c.8503G>C (p.Ala2835Pro) c.14860G>C (p.Ala4954Pro) c.14797G>C (p.Ala4933Pro) c.14626G>C (p.Ala4876Pro) c.14236G>C (p.Ala4746Pro) c.9427G>C (p.Ala3143Pro) c.8602G>C (p.Ala2868Pro) c.8368G>C (p.Ala2790Pro) c.8290G>C (p.Ala2764Pro) c.14179G>C (p.Ala4727Pro) | |
| 6 | g.56555648C>T | CA364519372 | DST | c.7942G>A (p.Ala2648Thr) c.8476G>A (p.Ala2826Thr) c.8062G>A (p.Ala2688Thr) n.804G>A c.14833G>A (p.Ala4945Thr) c.6964G>A (p.Ala2322Thr) c.14200G>A (p.Ala4734Thr) n.542G>A c.14734G>A (p.Ala4912Thr) c.14548G>A (p.Ala4850Thr) c.14419G>A (p.Ala4807Thr) c.14320G>A (p.Ala4774Thr) c.14299G>A (p.Ala4767Thr) c.14278G>A (p.Ala4760Thr) c.13222G>A (p.Ala4408Thr) c.14761G>A (p.Ala4921Thr) c.8503G>A (p.Ala2835Thr) c.14860G>A (p.Ala4954Thr) c.14797G>A (p.Ala4933Thr) c.14626G>A (p.Ala4876Thr) c.14236G>A (p.Ala4746Thr) c.9427G>A (p.Ala3143Thr) c.8602G>A (p.Ala2868Thr) c.8368G>A (p.Ala2790Thr) c.8290G>A (p.Ala2764Thr) c.14179G>A (p.Ala4727Thr) | |
| 6 | g.56555649T>A | CA364519374 | DST | c.7941A>T (p.Gln2647His) c.8475A>T (p.Gln2825His) c.8061A>T (p.Gln2687His) n.803A>T c.14832A>T (p.Gln4944His) c.6963A>T (p.Gln2321His) c.14199A>T (p.Gln4733His) n.541A>T c.14733A>T (p.Gln4911His) c.14547A>T (p.Gln4849His) c.14418A>T (p.Gln4806His) c.14319A>T (p.Gln4773His) c.14298A>T (p.Gln4766His) c.14277A>T (p.Gln4759His) c.13221A>T (p.Gln4407His) c.14760A>T (p.Gln4920His) c.8502A>T (p.Gln2834His) c.14859A>T (p.Gln4953His) c.14796A>T (p.Gln4932His) c.14625A>T (p.Gln4875His) c.14235A>T (p.Gln4745His) c.9426A>T (p.Gln3142His) c.8601A>T (p.Gln2867His) c.8367A>T (p.Gln2789His) c.8289A>T (p.Gln2763His) c.14178A>T (p.Gln4726His) | |
| 6 | g.56555649T>C | CA450620393 | DST | c.7941A>G (p.Gln2647=) c.8475A>G (p.Gln2825=) c.8061A>G (p.Gln2687=) n.803A>G c.14832A>G (p.Gln4944=) c.6963A>G (p.Gln2321=) c.14199A>G (p.Gln4733=) n.541A>G c.14733A>G (p.Gln4911=) c.14547A>G (p.Gln4849=) c.14418A>G (p.Gln4806=) c.14319A>G (p.Gln4773=) c.14298A>G (p.Gln4766=) c.14277A>G (p.Gln4759=) c.13221A>G (p.Gln4407=) c.14760A>G (p.Gln4920=) c.8502A>G (p.Gln2834=) c.14859A>G (p.Gln4953=) c.14796A>G (p.Gln4932=) c.14625A>G (p.Gln4875=) c.14235A>G (p.Gln4745=) c.9426A>G (p.Gln3142=) c.8601A>G (p.Gln2867=) c.8367A>G (p.Gln2789=) c.8289A>G (p.Gln2763=) c.14178A>G (p.Gln4726=) | |
| 6 | g.56555649T>G | CA364519376 | DST | c.7941A>C (p.Gln2647His) c.8475A>C (p.Gln2825His) c.8061A>C (p.Gln2687His) n.803A>C c.14832A>C (p.Gln4944His) c.6963A>C (p.Gln2321His) c.14199A>C (p.Gln4733His) n.541A>C c.14733A>C (p.Gln4911His) c.14547A>C (p.Gln4849His) c.14418A>C (p.Gln4806His) c.14319A>C (p.Gln4773His) c.14298A>C (p.Gln4766His) c.14277A>C (p.Gln4759His) c.13221A>C (p.Gln4407His) c.14760A>C (p.Gln4920His) c.8502A>C (p.Gln2834His) c.14859A>C (p.Gln4953His) c.14796A>C (p.Gln4932His) c.14625A>C (p.Gln4875His) c.14235A>C (p.Gln4745His) c.9426A>C (p.Gln3142His) c.8601A>C (p.Gln2867His) c.8367A>C (p.Gln2789His) c.8289A>C (p.Gln2763His) c.14178A>C (p.Gln4726His) | |
| 6 | g.56555650T>A | CA364519377 | DST | c.7940A>T (p.Gln2647Leu) c.8474A>T (p.Gln2825Leu) c.8060A>T (p.Gln2687Leu) n.802A>T c.14831A>T (p.Gln4944Leu) c.6962A>T (p.Gln2321Leu) c.14198A>T (p.Gln4733Leu) n.540A>T c.14732A>T (p.Gln4911Leu) c.14546A>T (p.Gln4849Leu) c.14417A>T (p.Gln4806Leu) c.14318A>T (p.Gln4773Leu) c.14297A>T (p.Gln4766Leu) c.14276A>T (p.Gln4759Leu) c.13220A>T (p.Gln4407Leu) c.14759A>T (p.Gln4920Leu) c.8501A>T (p.Gln2834Leu) c.14858A>T (p.Gln4953Leu) c.14795A>T (p.Gln4932Leu) c.14624A>T (p.Gln4875Leu) c.14234A>T (p.Gln4745Leu) c.9425A>T (p.Gln3142Leu) c.8600A>T (p.Gln2867Leu) c.8366A>T (p.Gln2789Leu) c.8288A>T (p.Gln2763Leu) c.14177A>T (p.Gln4726Leu) | |
| 6 | g.56555650T>C | CA364519378 | DST | c.7940A>G (p.Gln2647Arg) c.8474A>G (p.Gln2825Arg) c.8060A>G (p.Gln2687Arg) n.802A>G c.14831A>G (p.Gln4944Arg) c.6962A>G (p.Gln2321Arg) c.14198A>G (p.Gln4733Arg) n.540A>G c.14732A>G (p.Gln4911Arg) c.14546A>G (p.Gln4849Arg) c.14417A>G (p.Gln4806Arg) c.14318A>G (p.Gln4773Arg) c.14297A>G (p.Gln4766Arg) c.14276A>G (p.Gln4759Arg) c.13220A>G (p.Gln4407Arg) c.14759A>G (p.Gln4920Arg) c.8501A>G (p.Gln2834Arg) c.14858A>G (p.Gln4953Arg) c.14795A>G (p.Gln4932Arg) c.14624A>G (p.Gln4875Arg) c.14234A>G (p.Gln4745Arg) c.9425A>G (p.Gln3142Arg) c.8600A>G (p.Gln2867Arg) c.8366A>G (p.Gln2789Arg) c.8288A>G (p.Gln2763Arg) c.14177A>G (p.Gln4726Arg) | |
| 6 | g.56555650T>G | CA364519379 | DST | c.7940A>C (p.Gln2647Pro) c.8474A>C (p.Gln2825Pro) c.8060A>C (p.Gln2687Pro) n.802A>C c.14831A>C (p.Gln4944Pro) c.6962A>C (p.Gln2321Pro) c.14198A>C (p.Gln4733Pro) n.540A>C c.14732A>C (p.Gln4911Pro) c.14546A>C (p.Gln4849Pro) c.14417A>C (p.Gln4806Pro) c.14318A>C (p.Gln4773Pro) c.14297A>C (p.Gln4766Pro) c.14276A>C (p.Gln4759Pro) c.13220A>C (p.Gln4407Pro) c.14759A>C (p.Gln4920Pro) c.8501A>C (p.Gln2834Pro) c.14858A>C (p.Gln4953Pro) c.14795A>C (p.Gln4932Pro) c.14624A>C (p.Gln4875Pro) c.14234A>C (p.Gln4745Pro) c.9425A>C (p.Gln3142Pro) c.8600A>C (p.Gln2867Pro) c.8366A>C (p.Gln2789Pro) c.8288A>C (p.Gln2763Pro) c.14177A>C (p.Gln4726Pro) | |
| 6 | g.56555651G>A | CA364519381 | DST | c.7939C>T (p.Gln2647Ter) c.8473C>T (p.Gln2825Ter) c.8059C>T (p.Gln2687Ter) n.801C>T c.14830C>T (p.Gln4944Ter) c.6961C>T (p.Gln2321Ter) c.14197C>T (p.Gln4733Ter) n.539C>T c.14731C>T (p.Gln4911Ter) c.14545C>T (p.Gln4849Ter) c.14416C>T (p.Gln4806Ter) c.14317C>T (p.Gln4773Ter) c.14296C>T (p.Gln4766Ter) c.14275C>T (p.Gln4759Ter) c.13219C>T (p.Gln4407Ter) c.14758C>T (p.Gln4920Ter) c.8500C>T (p.Gln2834Ter) c.14857C>T (p.Gln4953Ter) c.14794C>T (p.Gln4932Ter) c.14623C>T (p.Gln4875Ter) c.14233C>T (p.Gln4745Ter) c.9424C>T (p.Gln3142Ter) c.8599C>T (p.Gln2867Ter) c.8365C>T (p.Gln2789Ter) c.8287C>T (p.Gln2763Ter) c.14176C>T (p.Gln4726Ter) | |
| 6 | g.56555651G>C | CA364519383 | DST | c.7939C>G (p.Gln2647Glu) c.8473C>G (p.Gln2825Glu) c.8059C>G (p.Gln2687Glu) n.801C>G c.14830C>G (p.Gln4944Glu) c.6961C>G (p.Gln2321Glu) c.14197C>G (p.Gln4733Glu) n.539C>G c.14731C>G (p.Gln4911Glu) c.14545C>G (p.Gln4849Glu) c.14416C>G (p.Gln4806Glu) c.14317C>G (p.Gln4773Glu) c.14296C>G (p.Gln4766Glu) c.14275C>G (p.Gln4759Glu) c.13219C>G (p.Gln4407Glu) c.14758C>G (p.Gln4920Glu) c.8500C>G (p.Gln2834Glu) c.14857C>G (p.Gln4953Glu) c.14794C>G (p.Gln4932Glu) c.14623C>G (p.Gln4875Glu) c.14233C>G (p.Gln4745Glu) c.9424C>G (p.Gln3142Glu) c.8599C>G (p.Gln2867Glu) c.8365C>G (p.Gln2789Glu) c.8287C>G (p.Gln2763Glu) c.14176C>G (p.Gln4726Glu) | gnomAD v4 |
| 6 | g.56555651G= | CA1630147845 | DST | c.7939C= (p.Gln2647=) c.8473C= (p.Gln2825=) c.8059C= (p.Gln2687=) n.801C= c.14830C= (p.Gln4944=) c.6961C= (p.Gln2321=) c.14197C= (p.Gln4733=) n.539C= c.14731C= (p.Gln4911=) c.14545C= (p.Gln4849=) c.14416C= (p.Gln4806=) c.14317C= (p.Gln4773=) c.14296C= (p.Gln4766=) c.14275C= (p.Gln4759=) c.13219C= (p.Gln4407=) c.14758C= (p.Gln4920=) c.8500C= (p.Gln2834=) c.14857C= (p.Gln4953=) c.14794C= (p.Gln4932=) c.14623C= (p.Gln4875=) c.14233C= (p.Gln4745=) c.9424C= (p.Gln3142=) c.8599C= (p.Gln2867=) c.8365C= (p.Gln2789=) c.8287C= (p.Gln2763=) c.14176C= (p.Gln4726=) | |
| 6 | g.56555651G>T | CA3867919 | DST | c.7939C>A (p.Gln2647Lys) c.8473C>A (p.Gln2825Lys) c.8059C>A (p.Gln2687Lys) n.801C>A c.14830C>A (p.Gln4944Lys) c.6961C>A (p.Gln2321Lys) c.14197C>A (p.Gln4733Lys) n.539C>A c.14731C>A (p.Gln4911Lys) c.14545C>A (p.Gln4849Lys) c.14416C>A (p.Gln4806Lys) c.14317C>A (p.Gln4773Lys) c.14296C>A (p.Gln4766Lys) c.14275C>A (p.Gln4759Lys) c.13219C>A (p.Gln4407Lys) c.14758C>A (p.Gln4920Lys) c.8500C>A (p.Gln2834Lys) c.14857C>A (p.Gln4953Lys) c.14794C>A (p.Gln4932Lys) c.14623C>A (p.Gln4875Lys) c.14233C>A (p.Gln4745Lys) c.9424C>A (p.Gln3142Lys) c.8599C>A (p.Gln2867Lys) c.8365C>A (p.Gln2789Lys) c.8287C>A (p.Gln2763Lys) c.14176C>A (p.Gln4726Lys) | dbSNP ExAC gnomAD v2 |
| 6 | g.56555652G>A | CA3867920 | DST | c.7938C>T (p.Asp2646=) c.8472C>T (p.Asp2824=) c.8058C>T (p.Asp2686=) n.800C>T c.14829C>T (p.Asp4943=) c.6960C>T (p.Asp2320=) c.14196C>T (p.Asp4732=) n.538C>T c.14730C>T (p.Asp4910=) c.14544C>T (p.Asp4848=) c.14415C>T (p.Asp4805=) c.14316C>T (p.Asp4772=) c.14295C>T (p.Asp4765=) c.14274C>T (p.Asp4758=) c.13218C>T (p.Asp4406=) c.14757C>T (p.Asp4919=) c.8499C>T (p.Asp2833=) c.14856C>T (p.Asp4952=) c.14793C>T (p.Asp4931=) c.14622C>T (p.Asp4874=) c.14232C>T (p.Asp4744=) c.9423C>T (p.Asp3141=) c.8598C>T (p.Asp2866=) c.8364C>T (p.Asp2788=) c.8286C>T (p.Asp2762=) c.14175C>T (p.Asp4725=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.56555652G>C | CA364519389 | DST | c.7938C>G (p.Asp2646Glu) c.8472C>G (p.Asp2824Glu) c.8058C>G (p.Asp2686Glu) n.800C>G c.14829C>G (p.Asp4943Glu) c.6960C>G (p.Asp2320Glu) c.14196C>G (p.Asp4732Glu) n.538C>G c.14730C>G (p.Asp4910Glu) c.14544C>G (p.Asp4848Glu) c.14415C>G (p.Asp4805Glu) c.14316C>G (p.Asp4772Glu) c.14295C>G (p.Asp4765Glu) c.14274C>G (p.Asp4758Glu) c.13218C>G (p.Asp4406Glu) c.14757C>G (p.Asp4919Glu) c.8499C>G (p.Asp2833Glu) c.14856C>G (p.Asp4952Glu) c.14793C>G (p.Asp4931Glu) c.14622C>G (p.Asp4874Glu) c.14232C>G (p.Asp4744Glu) c.9423C>G (p.Asp3141Glu) c.8598C>G (p.Asp2866Glu) c.8364C>G (p.Asp2788Glu) c.8286C>G (p.Asp2762Glu) c.14175C>G (p.Asp4725Glu) | |
| 6 | g.56555652G= | CA1630147846 | DST | c.7938C= (p.Asp2646=) c.8472C= (p.Asp2824=) c.8058C= (p.Asp2686=) n.800C= c.14829C= (p.Asp4943=) c.6960C= (p.Asp2320=) c.14196C= (p.Asp4732=) n.538C= c.14730C= (p.Asp4910=) c.14544C= (p.Asp4848=) c.14415C= (p.Asp4805=) c.14316C= (p.Asp4772=) c.14295C= (p.Asp4765=) c.14274C= (p.Asp4758=) c.13218C= (p.Asp4406=) c.14757C= (p.Asp4919=) c.8499C= (p.Asp2833=) c.14856C= (p.Asp4952=) c.14793C= (p.Asp4931=) c.14622C= (p.Asp4874=) c.14232C= (p.Asp4744=) c.9423C= (p.Asp3141=) c.8598C= (p.Asp2866=) c.8364C= (p.Asp2788=) c.8286C= (p.Asp2762=) c.14175C= (p.Asp4725=) | |
| 6 | g.56555652G>T | CA364519386 | DST | c.7938C>A (p.Asp2646Glu) c.8472C>A (p.Asp2824Glu) c.8058C>A (p.Asp2686Glu) n.800C>A c.14829C>A (p.Asp4943Glu) c.6960C>A (p.Asp2320Glu) c.14196C>A (p.Asp4732Glu) n.538C>A c.14730C>A (p.Asp4910Glu) c.14544C>A (p.Asp4848Glu) c.14415C>A (p.Asp4805Glu) c.14316C>A (p.Asp4772Glu) c.14295C>A (p.Asp4765Glu) c.14274C>A (p.Asp4758Glu) c.13218C>A (p.Asp4406Glu) c.14757C>A (p.Asp4919Glu) c.8499C>A (p.Asp2833Glu) c.14856C>A (p.Asp4952Glu) c.14793C>A (p.Asp4931Glu) c.14622C>A (p.Asp4874Glu) c.14232C>A (p.Asp4744Glu) c.9423C>A (p.Asp3141Glu) c.8598C>A (p.Asp2866Glu) c.8364C>A (p.Asp2788Glu) c.8286C>A (p.Asp2762Glu) c.14175C>A (p.Asp4725Glu) | |
| 6 | g.56555653T>A | CA364519392 | DST | c.7937A>T (p.Asp2646Val) c.8471A>T (p.Asp2824Val) c.8057A>T (p.Asp2686Val) n.799A>T c.14828A>T (p.Asp4943Val) c.6959A>T (p.Asp2320Val) c.14195A>T (p.Asp4732Val) n.537A>T c.14729A>T (p.Asp4910Val) c.14543A>T (p.Asp4848Val) c.14414A>T (p.Asp4805Val) c.14315A>T (p.Asp4772Val) c.14294A>T (p.Asp4765Val) c.14273A>T (p.Asp4758Val) c.13217A>T (p.Asp4406Val) c.14756A>T (p.Asp4919Val) c.8498A>T (p.Asp2833Val) c.14855A>T (p.Asp4952Val) c.14792A>T (p.Asp4931Val) c.14621A>T (p.Asp4874Val) c.14231A>T (p.Asp4744Val) c.9422A>T (p.Asp3141Val) c.8597A>T (p.Asp2866Val) c.8363A>T (p.Asp2788Val) c.8285A>T (p.Asp2762Val) c.14174A>T (p.Asp4725Val) | COSMIC COSMIC |
| 6 | g.56555653T>C | CA364519395 | DST | c.7937A>G (p.Asp2646Gly) c.8471A>G (p.Asp2824Gly) c.8057A>G (p.Asp2686Gly) n.799A>G c.14828A>G (p.Asp4943Gly) c.6959A>G (p.Asp2320Gly) c.14195A>G (p.Asp4732Gly) n.537A>G c.14729A>G (p.Asp4910Gly) c.14543A>G (p.Asp4848Gly) c.14414A>G (p.Asp4805Gly) c.14315A>G (p.Asp4772Gly) c.14294A>G (p.Asp4765Gly) c.14273A>G (p.Asp4758Gly) c.13217A>G (p.Asp4406Gly) c.14756A>G (p.Asp4919Gly) c.8498A>G (p.Asp2833Gly) c.14855A>G (p.Asp4952Gly) c.14792A>G (p.Asp4931Gly) c.14621A>G (p.Asp4874Gly) c.14231A>G (p.Asp4744Gly) c.9422A>G (p.Asp3141Gly) c.8597A>G (p.Asp2866Gly) c.8363A>G (p.Asp2788Gly) c.8285A>G (p.Asp2762Gly) c.14174A>G (p.Asp4725Gly) | gnomAD v4 |
| 6 | g.56555653T>G | CA364519394 | DST | c.7937A>C (p.Asp2646Ala) c.8471A>C (p.Asp2824Ala) c.8057A>C (p.Asp2686Ala) n.799A>C c.14828A>C (p.Asp4943Ala) c.6959A>C (p.Asp2320Ala) c.14195A>C (p.Asp4732Ala) n.537A>C c.14729A>C (p.Asp4910Ala) c.14543A>C (p.Asp4848Ala) c.14414A>C (p.Asp4805Ala) c.14315A>C (p.Asp4772Ala) c.14294A>C (p.Asp4765Ala) c.14273A>C (p.Asp4758Ala) c.13217A>C (p.Asp4406Ala) c.14756A>C (p.Asp4919Ala) c.8498A>C (p.Asp2833Ala) c.14855A>C (p.Asp4952Ala) c.14792A>C (p.Asp4931Ala) c.14621A>C (p.Asp4874Ala) c.14231A>C (p.Asp4744Ala) c.9422A>C (p.Asp3141Ala) c.8597A>C (p.Asp2866Ala) c.8363A>C (p.Asp2788Ala) c.8285A>C (p.Asp2762Ala) c.14174A>C (p.Asp4725Ala) | |
| 6 | g.56555654C>A | CA364519396 | DST | c.7936G>T (p.Asp2646Tyr) c.8470G>T (p.Asp2824Tyr) c.8056G>T (p.Asp2686Tyr) n.798G>T c.14827G>T (p.Asp4943Tyr) c.6958G>T (p.Asp2320Tyr) c.14194G>T (p.Asp4732Tyr) n.536G>T c.14728G>T (p.Asp4910Tyr) c.14542G>T (p.Asp4848Tyr) c.14413G>T (p.Asp4805Tyr) c.14314G>T (p.Asp4772Tyr) c.14293G>T (p.Asp4765Tyr) c.14272G>T (p.Asp4758Tyr) c.13216G>T (p.Asp4406Tyr) c.14755G>T (p.Asp4919Tyr) c.8497G>T (p.Asp2833Tyr) c.14854G>T (p.Asp4952Tyr) c.14791G>T (p.Asp4931Tyr) c.14620G>T (p.Asp4874Tyr) c.14230G>T (p.Asp4744Tyr) c.9421G>T (p.Asp3141Tyr) c.8596G>T (p.Asp2866Tyr) c.8362G>T (p.Asp2788Tyr) c.8284G>T (p.Asp2762Tyr) c.14173G>T (p.Asp4725Tyr) | |
| 6 | g.56555654C= | CA1630147847 | DST | c.7936G= (p.Asp2646=) c.8470G= (p.Asp2824=) c.8056G= (p.Asp2686=) n.798G= c.14827G= (p.Asp4943=) c.6958G= (p.Asp2320=) c.14194G= (p.Asp4732=) n.536G= c.14728G= (p.Asp4910=) c.14542G= (p.Asp4848=) c.14413G= (p.Asp4805=) c.14314G= (p.Asp4772=) c.14293G= (p.Asp4765=) c.14272G= (p.Asp4758=) c.13216G= (p.Asp4406=) c.14755G= (p.Asp4919=) c.8497G= (p.Asp2833=) c.14854G= (p.Asp4952=) c.14791G= (p.Asp4931=) c.14620G= (p.Asp4874=) c.14230G= (p.Asp4744=) c.9421G= (p.Asp3141=) c.8596G= (p.Asp2866=) c.8362G= (p.Asp2788=) c.8284G= (p.Asp2762=) c.14173G= (p.Asp4725=) | |
| 6 | g.56555654C>G | CA364519397 | DST | c.7936G>C (p.Asp2646His) c.8470G>C (p.Asp2824His) c.8056G>C (p.Asp2686His) n.798G>C c.14827G>C (p.Asp4943His) c.6958G>C (p.Asp2320His) c.14194G>C (p.Asp4732His) n.536G>C c.14728G>C (p.Asp4910His) c.14542G>C (p.Asp4848His) c.14413G>C (p.Asp4805His) c.14314G>C (p.Asp4772His) c.14293G>C (p.Asp4765His) c.14272G>C (p.Asp4758His) c.13216G>C (p.Asp4406His) c.14755G>C (p.Asp4919His) c.8497G>C (p.Asp2833His) c.14854G>C (p.Asp4952His) c.14791G>C (p.Asp4931His) c.14620G>C (p.Asp4874His) c.14230G>C (p.Asp4744His) c.9421G>C (p.Asp3141His) c.8596G>C (p.Asp2866His) c.8362G>C (p.Asp2788His) c.8284G>C (p.Asp2762His) c.14173G>C (p.Asp4725His) | dbSNP |
| 6 | g.56555654C>T | CA364519398 | DST | c.7936G>A (p.Asp2646Asn) c.8470G>A (p.Asp2824Asn) c.8056G>A (p.Asp2686Asn) n.798G>A c.14827G>A (p.Asp4943Asn) c.6958G>A (p.Asp2320Asn) c.14194G>A (p.Asp4732Asn) n.536G>A c.14728G>A (p.Asp4910Asn) c.14542G>A (p.Asp4848Asn) c.14413G>A (p.Asp4805Asn) c.14314G>A (p.Asp4772Asn) c.14293G>A (p.Asp4765Asn) c.14272G>A (p.Asp4758Asn) c.13216G>A (p.Asp4406Asn) c.14755G>A (p.Asp4919Asn) c.8497G>A (p.Asp2833Asn) c.14854G>A (p.Asp4952Asn) c.14791G>A (p.Asp4931Asn) c.14620G>A (p.Asp4874Asn) c.14230G>A (p.Asp4744Asn) c.9421G>A (p.Asp3141Asn) c.8596G>A (p.Asp2866Asn) c.8362G>A (p.Asp2788Asn) c.8284G>A (p.Asp2762Asn) c.14173G>A (p.Asp4725Asn) | |
| 6 | g.56555655A>C | CA364519399 | DST | c.7935T>G (p.Ile2645Met) c.8469T>G (p.Ile2823Met) c.8055T>G (p.Ile2685Met) n.797T>G c.14826T>G (p.Ile4942Met) c.6957T>G (p.Ile2319Met) c.14193T>G (p.Ile4731Met) n.535T>G c.14727T>G (p.Ile4909Met) c.14541T>G (p.Ile4847Met) c.14412T>G (p.Ile4804Met) c.14313T>G (p.Ile4771Met) c.14292T>G (p.Ile4764Met) c.14271T>G (p.Ile4757Met) c.13215T>G (p.Ile4405Met) c.14754T>G (p.Ile4918Met) c.8496T>G (p.Ile2832Met) c.14853T>G (p.Ile4951Met) c.14790T>G (p.Ile4930Met) c.14619T>G (p.Ile4873Met) c.14229T>G (p.Ile4743Met) c.9420T>G (p.Ile3140Met) c.8595T>G (p.Ile2865Met) c.8361T>G (p.Ile2787Met) c.8283T>G (p.Ile2761Met) c.14172T>G (p.Ile4724Met) | |
| 6 | g.56555655A>G | CA450620402 | DST | c.7935T>C (p.Ile2645=) c.8469T>C (p.Ile2823=) c.8055T>C (p.Ile2685=) n.797T>C c.14826T>C (p.Ile4942=) c.6957T>C (p.Ile2319=) c.14193T>C (p.Ile4731=) n.535T>C c.14727T>C (p.Ile4909=) c.14541T>C (p.Ile4847=) c.14412T>C (p.Ile4804=) c.14313T>C (p.Ile4771=) c.14292T>C (p.Ile4764=) c.14271T>C (p.Ile4757=) c.13215T>C (p.Ile4405=) c.14754T>C (p.Ile4918=) c.8496T>C (p.Ile2832=) c.14853T>C (p.Ile4951=) c.14790T>C (p.Ile4930=) c.14619T>C (p.Ile4873=) c.14229T>C (p.Ile4743=) c.9420T>C (p.Ile3140=) c.8595T>C (p.Ile2865=) c.8361T>C (p.Ile2787=) c.8283T>C (p.Ile2761=) c.14172T>C (p.Ile4724=) | |
| 6 | g.56555655A>T | CA450620403 | DST | c.7935T>A (p.Ile2645=) c.8469T>A (p.Ile2823=) c.8055T>A (p.Ile2685=) n.797T>A c.14826T>A (p.Ile4942=) c.6957T>A (p.Ile2319=) c.14193T>A (p.Ile4731=) n.535T>A c.14727T>A (p.Ile4909=) c.14541T>A (p.Ile4847=) c.14412T>A (p.Ile4804=) c.14313T>A (p.Ile4771=) c.14292T>A (p.Ile4764=) c.14271T>A (p.Ile4757=) c.13215T>A (p.Ile4405=) c.14754T>A (p.Ile4918=) c.8496T>A (p.Ile2832=) c.14853T>A (p.Ile4951=) c.14790T>A (p.Ile4930=) c.14619T>A (p.Ile4873=) c.14229T>A (p.Ile4743=) c.9420T>A (p.Ile3140=) c.8595T>A (p.Ile2865=) c.8361T>A (p.Ile2787=) c.8283T>A (p.Ile2761=) c.14172T>A (p.Ile4724=) | |
| 6 | g.56555656A>C | CA364519400 | DST | c.7934T>G (p.Ile2645Ser) c.8468T>G (p.Ile2823Ser) c.8054T>G (p.Ile2685Ser) n.796T>G c.14825T>G (p.Ile4942Ser) c.6956T>G (p.Ile2319Ser) c.14192T>G (p.Ile4731Ser) n.534T>G c.14726T>G (p.Ile4909Ser) c.14540T>G (p.Ile4847Ser) c.14411T>G (p.Ile4804Ser) c.14312T>G (p.Ile4771Ser) c.14291T>G (p.Ile4764Ser) c.14270T>G (p.Ile4757Ser) c.13214T>G (p.Ile4405Ser) c.14753T>G (p.Ile4918Ser) c.8495T>G (p.Ile2832Ser) c.14852T>G (p.Ile4951Ser) c.14789T>G (p.Ile4930Ser) c.14618T>G (p.Ile4873Ser) c.14228T>G (p.Ile4743Ser) c.9419T>G (p.Ile3140Ser) c.8594T>G (p.Ile2865Ser) c.8360T>G (p.Ile2787Ser) c.8282T>G (p.Ile2761Ser) c.14171T>G (p.Ile4724Ser) | |
| 6 | g.56555656A>G | CA364519401 | DST | c.7934T>C (p.Ile2645Thr) c.8468T>C (p.Ile2823Thr) c.8054T>C (p.Ile2685Thr) n.796T>C c.14825T>C (p.Ile4942Thr) c.6956T>C (p.Ile2319Thr) c.14192T>C (p.Ile4731Thr) n.534T>C c.14726T>C (p.Ile4909Thr) c.14540T>C (p.Ile4847Thr) c.14411T>C (p.Ile4804Thr) c.14312T>C (p.Ile4771Thr) c.14291T>C (p.Ile4764Thr) c.14270T>C (p.Ile4757Thr) c.13214T>C (p.Ile4405Thr) c.14753T>C (p.Ile4918Thr) c.8495T>C (p.Ile2832Thr) c.14852T>C (p.Ile4951Thr) c.14789T>C (p.Ile4930Thr) c.14618T>C (p.Ile4873Thr) c.14228T>C (p.Ile4743Thr) c.9419T>C (p.Ile3140Thr) c.8594T>C (p.Ile2865Thr) c.8360T>C (p.Ile2787Thr) c.8282T>C (p.Ile2761Thr) c.14171T>C (p.Ile4724Thr) | gnomAD v4 |
| 6 | g.56555656A>T | CA364519403 | DST | c.7934T>A (p.Ile2645Asn) c.8468T>A (p.Ile2823Asn) c.8054T>A (p.Ile2685Asn) n.796T>A c.14825T>A (p.Ile4942Asn) c.6956T>A (p.Ile2319Asn) c.14192T>A (p.Ile4731Asn) n.534T>A c.14726T>A (p.Ile4909Asn) c.14540T>A (p.Ile4847Asn) c.14411T>A (p.Ile4804Asn) c.14312T>A (p.Ile4771Asn) c.14291T>A (p.Ile4764Asn) c.14270T>A (p.Ile4757Asn) c.13214T>A (p.Ile4405Asn) c.14753T>A (p.Ile4918Asn) c.8495T>A (p.Ile2832Asn) c.14852T>A (p.Ile4951Asn) c.14789T>A (p.Ile4930Asn) c.14618T>A (p.Ile4873Asn) c.14228T>A (p.Ile4743Asn) c.9419T>A (p.Ile3140Asn) c.8594T>A (p.Ile2865Asn) c.8360T>A (p.Ile2787Asn) c.8282T>A (p.Ile2761Asn) c.14171T>A (p.Ile4724Asn) | |
| 6 | g.56555657T>A | CA364519404 | DST | c.7933A>T (p.Ile2645Phe) c.8467A>T (p.Ile2823Phe) c.8053A>T (p.Ile2685Phe) n.795A>T c.14824A>T (p.Ile4942Phe) c.6955A>T (p.Ile2319Phe) c.14191A>T (p.Ile4731Phe) n.533A>T c.14725A>T (p.Ile4909Phe) c.14539A>T (p.Ile4847Phe) c.14410A>T (p.Ile4804Phe) c.14311A>T (p.Ile4771Phe) c.14290A>T (p.Ile4764Phe) c.14269A>T (p.Ile4757Phe) c.13213A>T (p.Ile4405Phe) c.14752A>T (p.Ile4918Phe) c.8494A>T (p.Ile2832Phe) c.14851A>T (p.Ile4951Phe) c.14788A>T (p.Ile4930Phe) c.14617A>T (p.Ile4873Phe) c.14227A>T (p.Ile4743Phe) c.9418A>T (p.Ile3140Phe) c.8593A>T (p.Ile2865Phe) c.8359A>T (p.Ile2787Phe) c.8281A>T (p.Ile2761Phe) c.14170A>T (p.Ile4724Phe) | |
| 6 | g.56555657T>C | CA364519405 | DST | c.7933A>G (p.Ile2645Val) c.8467A>G (p.Ile2823Val) c.8053A>G (p.Ile2685Val) n.795A>G c.14824A>G (p.Ile4942Val) c.6955A>G (p.Ile2319Val) c.14191A>G (p.Ile4731Val) n.533A>G c.14725A>G (p.Ile4909Val) c.14539A>G (p.Ile4847Val) c.14410A>G (p.Ile4804Val) c.14311A>G (p.Ile4771Val) c.14290A>G (p.Ile4764Val) c.14269A>G (p.Ile4757Val) c.13213A>G (p.Ile4405Val) c.14752A>G (p.Ile4918Val) c.8494A>G (p.Ile2832Val) c.14851A>G (p.Ile4951Val) c.14788A>G (p.Ile4930Val) c.14617A>G (p.Ile4873Val) c.14227A>G (p.Ile4743Val) c.9418A>G (p.Ile3140Val) c.8593A>G (p.Ile2865Val) c.8359A>G (p.Ile2787Val) c.8281A>G (p.Ile2761Val) c.14170A>G (p.Ile4724Val) | |
| 6 | g.56555657T>G | CA364519407 | DST | c.7933A>C (p.Ile2645Leu) c.8467A>C (p.Ile2823Leu) c.8053A>C (p.Ile2685Leu) n.795A>C c.14824A>C (p.Ile4942Leu) c.6955A>C (p.Ile2319Leu) c.14191A>C (p.Ile4731Leu) n.533A>C c.14725A>C (p.Ile4909Leu) c.14539A>C (p.Ile4847Leu) c.14410A>C (p.Ile4804Leu) c.14311A>C (p.Ile4771Leu) c.14290A>C (p.Ile4764Leu) c.14269A>C (p.Ile4757Leu) c.13213A>C (p.Ile4405Leu) c.14752A>C (p.Ile4918Leu) c.8494A>C (p.Ile2832Leu) c.14851A>C (p.Ile4951Leu) c.14788A>C (p.Ile4930Leu) c.14617A>C (p.Ile4873Leu) c.14227A>C (p.Ile4743Leu) c.9418A>C (p.Ile3140Leu) c.8593A>C (p.Ile2865Leu) c.8359A>C (p.Ile2787Leu) c.8281A>C (p.Ile2761Leu) c.14170A>C (p.Ile4724Leu) | |
| 6 | g.56555658C>A | CA3867921 | DST | c.7932G>T (p.Trp2644Cys) c.8466G>T (p.Trp2822Cys) c.8052G>T (p.Trp2684Cys) n.794G>T c.14823G>T (p.Trp4941Cys) c.6954G>T (p.Trp2318Cys) c.14190G>T (p.Trp4730Cys) n.532G>T c.14724G>T (p.Trp4908Cys) c.14538G>T (p.Trp4846Cys) c.14409G>T (p.Trp4803Cys) c.14310G>T (p.Trp4770Cys) c.14289G>T (p.Trp4763Cys) c.14268G>T (p.Trp4756Cys) c.13212G>T (p.Trp4404Cys) c.14751G>T (p.Trp4917Cys) c.8493G>T (p.Trp2831Cys) c.14850G>T (p.Trp4950Cys) c.14787G>T (p.Trp4929Cys) c.14616G>T (p.Trp4872Cys) c.14226G>T (p.Trp4742Cys) c.9417G>T (p.Trp3139Cys) c.8592G>T (p.Trp2864Cys) c.8358G>T (p.Trp2786Cys) c.8280G>T (p.Trp2760Cys) c.14169G>T (p.Trp4723Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.56555658C= | CA1630147848 | DST | c.7932G= (p.Trp2644=) c.8466G= (p.Trp2822=) c.8052G= (p.Trp2684=) n.794G= c.14823G= (p.Trp4941=) c.6954G= (p.Trp2318=) c.14190G= (p.Trp4730=) n.532G= c.14724G= (p.Trp4908=) c.14538G= (p.Trp4846=) c.14409G= (p.Trp4803=) c.14310G= (p.Trp4770=) c.14289G= (p.Trp4763=) c.14268G= (p.Trp4756=) c.13212G= (p.Trp4404=) c.14751G= (p.Trp4917=) c.8493G= (p.Trp2831=) c.14850G= (p.Trp4950=) c.14787G= (p.Trp4929=) c.14616G= (p.Trp4872=) c.14226G= (p.Trp4742=) c.9417G= (p.Trp3139=) c.8592G= (p.Trp2864=) c.8358G= (p.Trp2786=) c.8280G= (p.Trp2760=) c.14169G= (p.Trp4723=) | |
| 6 | g.56555658C>G | CA364519409 | DST | c.7932G>C (p.Trp2644Cys) c.8466G>C (p.Trp2822Cys) c.8052G>C (p.Trp2684Cys) n.794G>C c.14823G>C (p.Trp4941Cys) c.6954G>C (p.Trp2318Cys) c.14190G>C (p.Trp4730Cys) n.532G>C c.14724G>C (p.Trp4908Cys) c.14538G>C (p.Trp4846Cys) c.14409G>C (p.Trp4803Cys) c.14310G>C (p.Trp4770Cys) c.14289G>C (p.Trp4763Cys) c.14268G>C (p.Trp4756Cys) c.13212G>C (p.Trp4404Cys) c.14751G>C (p.Trp4917Cys) c.8493G>C (p.Trp2831Cys) c.14850G>C (p.Trp4950Cys) c.14787G>C (p.Trp4929Cys) c.14616G>C (p.Trp4872Cys) c.14226G>C (p.Trp4742Cys) c.9417G>C (p.Trp3139Cys) c.8592G>C (p.Trp2864Cys) c.8358G>C (p.Trp2786Cys) c.8280G>C (p.Trp2760Cys) c.14169G>C (p.Trp4723Cys) |