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.7584269T>A | CA362692028 | DSP | c.5678T>A (p.Val1893Asp) c.7007T>A (p.Val2336Asp) c.5210T>A (p.Val1737Asp) | |
| 6 | g.7584269T>C | CA362692027 | DSP | c.5678T>C (p.Val1893Ala) c.7007T>C (p.Val2336Ala) c.5210T>C (p.Val1737Ala) | |
| 6 | g.7584269T>G | CA362692026 | DSP | c.5678T>G (p.Val1893Gly) c.7007T>G (p.Val2336Gly) c.5210T>G (p.Val1737Gly) | |
| 6 | g.7584270C>A | CA448716064 | DSP | c.5679C>A (p.Val1893=) c.7008C>A (p.Val2336=) c.5211C>A (p.Val1737=) | |
| 6 | g.7584270C>G | CA448716067 | DSP | c.5679C>G (p.Val1893=) c.7008C>G (p.Val2336=) c.5211C>G (p.Val1737=) | |
| 6 | g.7584270C>T | CA448716066 | DSP | c.5679C>T (p.Val1893=) c.7008C>T (p.Val2336=) c.5211C>T (p.Val1737=) | |
| 6 | g.7584271A>C | CA362692029 | DSP | c.5680A>C (p.Thr1894Pro) c.7009A>C (p.Thr2337Pro) c.5212A>C (p.Thr1738Pro) | |
| 6 | g.7584271A>G | CA362692030 | DSP | c.5680A>G (p.Thr1894Ala) c.7009A>G (p.Thr2337Ala) c.5212A>G (p.Thr1738Ala) | ClinVar |
| 6 | g.7584271A>T | CA362692031 | DSP | c.5680A>T (p.Thr1894Ser) c.7009A>T (p.Thr2337Ser) c.5212A>T (p.Thr1738Ser) | |
| 6 | g.7584272C>A | CA362692032 | DSP | c.5681C>A (p.Thr1894Asn) c.7010C>A (p.Thr2337Asn) c.5213C>A (p.Thr1738Asn) | gnomAD v4 |
| 6 | g.7584272C>G | CA362692033 | DSP | c.5681C>G (p.Thr1894Ser) c.7010C>G (p.Thr2337Ser) c.5213C>G (p.Thr1738Ser) | |
| 6 | g.7584272C>T | CA362692034 | DSP | c.5681C>T (p.Thr1894Ile) c.7010C>T (p.Thr2337Ile) c.5213C>T (p.Thr1738Ile) | |
| 6 | g.7584275_7584289del | CA2677219031 | DSP | c.5684_5698del (p.Gly1895_Pro1899del) c.7013_7027del (p.Gly2338_Pro2342del) c.5216_5230del (p.Gly1739_Pro1743del) | gnomAD v4 |
| 6 | g.7584273T>A | CA448716071 | DSP | c.5682T>A (p.Thr1894=) c.7011T>A (p.Thr2337=) c.5214T>A (p.Thr1738=) | |
| 6 | g.7584273T>C | CA448716072 | DSP | c.5682T>C (p.Thr1894=) c.7011T>C (p.Thr2337=) c.5214T>C (p.Thr1738=) | |
| 6 | g.7584273T>G | CA448716073 | DSP | c.5682T>G (p.Thr1894=) c.7011T>G (p.Thr2337=) c.5214T>G (p.Thr1738=) | |
| 6 | g.7584274G>A | CA362692035 | DSP | c.5683G>A (p.Gly1895Arg) c.7012G>A (p.Gly2338Arg) c.5215G>A (p.Gly1739Arg) | gnomAD v4 |
| 6 | g.7584274G>C | CA362692036 | DSP | c.5683G>C (p.Gly1895Arg) c.7012G>C (p.Gly2338Arg) c.5215G>C (p.Gly1739Arg) | |
| 6 | g.7584274G>T | CA362692037 | DSP | c.5683G>T (p.Gly1895Trp) c.7012G>T (p.Gly2338Trp) c.5215G>T (p.Gly1739Trp) | |
| 6 | g.7584275G>A | CA362692038 | DSP | c.5684G>A (p.Gly1895Glu) c.7013G>A (p.Gly2338Glu) c.5216G>A (p.Gly1739Glu) | |
| 6 | g.7584275G>C | CA362692039 | DSP | c.5684G>C (p.Gly1895Ala) c.7013G>C (p.Gly2338Ala) c.5216G>C (p.Gly1739Ala) | |
| 6 | g.7584275G>T | CA362692040 | DSP | c.5684G>T (p.Gly1895Val) c.7013G>T (p.Gly2338Val) c.5216G>T (p.Gly1739Val) | |
| 6 | g.7584276G>A | CA448716077 | DSP | c.5685G>A (p.Gly1895=) c.7014G>A (p.Gly2338=) c.5217G>A (p.Gly1739=) | ClinVar dbSNP gnomAD v2 |
| 6 | g.7584276G>C | CA133975521 | DSP | c.5685G>C (p.Gly1895=) c.7014G>C (p.Gly2338=) c.5217G>C (p.Gly1739=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7584276G= | CA1608610718 | DSP | c.5685G= (p.Gly1895=) c.7014G= (p.Gly2338=) c.5217G= (p.Gly1739=) | |
| 6 | g.7584276G>T | CA448716079 | DSP | c.5685G>T (p.Gly1895=) c.7014G>T (p.Gly2338=) c.5217G>T (p.Gly1739=) | |
| 6 | g.7584277T>A | CA362692042 | DSP | c.5686T>A (p.Tyr1896Asn) c.7015T>A (p.Tyr2339Asn) c.5218T>A (p.Tyr1740Asn) | |
| 6 | g.7584277T>C | CA362692043 | DSP | c.5686T>C (p.Tyr1896His) c.7015T>C (p.Tyr2339His) c.5218T>C (p.Tyr1740His) | gnomAD v4 |
| 6 | g.7584277T>G | CA362692041 | DSP | c.5686T>G (p.Tyr1896Asp) c.7015T>G (p.Tyr2339Asp) c.5218T>G (p.Tyr1740Asp) | |
| 6 | g.7584278A= | CA1608610729 | DSP | c.5687A= (p.Tyr1896=) c.7016A= (p.Tyr2339=) c.5219A= (p.Tyr1740=) | |
| 6 | g.7584278A>C | CA362692044 | DSP | c.5687A>C (p.Tyr1896Ser) c.7016A>C (p.Tyr2339Ser) c.5219A>C (p.Tyr1740Ser) | |
| 6 | g.7584278A>G | CA362692045 | DSP | c.5687A>G (p.Tyr1896Cys) c.7016A>G (p.Tyr2339Cys) c.5219A>G (p.Tyr1740Cys) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7584278A>T | CA362692046 | DSP | c.5687A>T (p.Tyr1896Phe) c.7016A>T (p.Tyr2339Phe) c.5219A>T (p.Tyr1740Phe) | |
| 6 | g.7584279T>A | CA362692047 | DSP | c.5688T>A (p.Tyr1896Ter) c.7017T>A (p.Tyr2339Ter) c.5220T>A (p.Tyr1740Ter) | |
| 6 | g.7584279T>C | CA133975531 | DSP | c.5688T>C (p.Tyr1896=) c.7017T>C (p.Tyr2339=) c.5220T>C (p.Tyr1740=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7584279T>G | CA362692048 | DSP | c.5688T>G (p.Tyr1896Ter) c.7017T>G (p.Tyr2339Ter) c.5220T>G (p.Tyr1740Ter) | |
| 6 | g.7584279T= | CA1608610749 | DSP | c.5688T= (p.Tyr1896=) c.7017T= (p.Tyr2339=) c.5220T= (p.Tyr1740=) | |
| 6 | g.7584280A>C | CA362692049 | DSP | c.5689A>C (p.Asn1897His) c.7018A>C (p.Asn2340His) c.5221A>C (p.Asn1741His) | |
| 6 | g.7584280A>G | CA362692051 | DSP | c.5689A>G (p.Asn1897Asp) c.7018A>G (p.Asn2340Asp) c.5221A>G (p.Asn1741Asp) | |
| 6 | g.7584280A>T | CA362692050 | DSP | c.5689A>T (p.Asn1897Tyr) c.7018A>T (p.Asn2340Tyr) c.5221A>T (p.Asn1741Tyr) | |
| 6 | g.7584281A= | CA1608610766 | DSP | c.5690A= (p.Asn1897=) c.7019A= (p.Asn2340=) c.5222A= (p.Asn1741=) | |
| 6 | g.7584281A>C | CA362692052 | DSP | c.5690A>C (p.Asn1897Thr) c.7019A>C (p.Asn2340Thr) c.5222A>C (p.Asn1741Thr) | |
| 6 | g.7584281A>G | CA362692053 | DSP | c.5690A>G (p.Asn1897Ser) c.7019A>G (p.Asn2340Ser) c.5222A>G (p.Asn1741Ser) | ClinVar dbSNP |
| 6 | g.7584281A>T | CA362692054 | DSP | c.5690A>T (p.Asn1897Ile) c.7019A>T (p.Asn2340Ile) c.5222A>T (p.Asn1741Ile) | |
| 6 | g.7584282T>A | CA362692055 | DSP | c.5691T>A (p.Asn1897Lys) c.7020T>A (p.Asn2340Lys) c.5223T>A (p.Asn1741Lys) | |
| 6 | g.7584282T>C | CA448716081 | DSP | c.5691T>C (p.Asn1897=) c.7020T>C (p.Asn2340=) c.5223T>C (p.Asn1741=) | ClinVar dbSNP |
| 6 | g.7584282T>G | CA362692056 | DSP | c.5691T>G (p.Asn1897Lys) c.7020T>G (p.Asn2340Lys) c.5223T>G (p.Asn1741Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7584282T= | CA1608610771 | DSP | c.5691T= (p.Asn1897=) c.7020T= (p.Asn2340=) c.5223T= (p.Asn1741=) | |
| 6 | g.7584283G>A | CA007104 | DSP | c.5692G>A (p.Asp1898Asn) c.7021G>A (p.Asp2341Asn) c.5224G>A (p.Asp1742Asn) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7584283G>C | CA362692058 | DSP | c.5692G>C (p.Asp1898His) c.7021G>C (p.Asp2341His) c.5224G>C (p.Asp1742His) | |
| 6 | g.7584283G= | CA1608610780 | DSP | c.5692G= (p.Asp1898=) c.7021G= (p.Asp2341=) c.5224G= (p.Asp1742=) | |
| 6 | g.7584283G>T | CA362692057 | DSP | c.5692G>T (p.Asp1898Tyr) c.7021G>T (p.Asp2341Tyr) c.5224G>T (p.Asp1742Tyr) | |
| 6 | g.7584284A>C | CA362692059 | DSP | c.5693A>C (p.Asp1898Ala) c.7022A>C (p.Asp2341Ala) c.5225A>C (p.Asp1742Ala) | |
| 6 | g.7584284A>G | CA362692061 | DSP | c.5693A>G (p.Asp1898Gly) c.7022A>G (p.Asp2341Gly) c.5225A>G (p.Asp1742Gly) | |
| 6 | g.7584284A>T | CA362692060 | DSP | c.5693A>T (p.Asp1898Val) c.7022A>T (p.Asp2341Val) c.5225A>T (p.Asp1742Val) | |
| 6 | g.7584285T>A | CA362692062 | DSP | c.5694T>A (p.Asp1898Glu) c.7023T>A (p.Asp2341Glu) c.5226T>A (p.Asp1742Glu) | |
| 6 | g.7584285T>C | CA448716086 | DSP | c.5694T>C (p.Asp1898=) c.7023T>C (p.Asp2341=) c.5226T>C (p.Asp1742=) | |
| 6 | g.7584285T>G | CA362692063 | DSP | c.5694T>G (p.Asp1898Glu) c.7023T>G (p.Asp2341Glu) c.5226T>G (p.Asp1742Glu) | |
| 6 | g.7584286C>A | CA362692064 | DSP | c.5695C>A (p.Pro1899Thr) c.7024C>A (p.Pro2342Thr) c.5227C>A (p.Pro1743Thr) | |
| 6 | g.7584286C>G | CA362692065 | DSP | c.5695C>G (p.Pro1899Ala) c.7024C>G (p.Pro2342Ala) c.5227C>G (p.Pro1743Ala) | |
| 6 | g.7584286C>T | CA362692066 | DSP | c.5695C>T (p.Pro1899Ser) c.7024C>T (p.Pro2342Ser) c.5227C>T (p.Pro1743Ser) | |
| 6 | g.7584287C>A | CA362692067 | DSP | c.5696C>A (p.Pro1899His) c.7025C>A (p.Pro2342His) c.5228C>A (p.Pro1743His) | |
| 6 | g.7584287C= | CA1608610786 | DSP | c.5696C= (p.Pro1899=) c.7025C= (p.Pro2342=) c.5228C= (p.Pro1743=) | |
| 6 | g.7584287C>G | CA362692068 | DSP | c.5696C>G (p.Pro1899Arg) c.7025C>G (p.Pro2342Arg) c.5228C>G (p.Pro1743Arg) | |
| 6 | g.7584287C>T | CA362692069 | DSP | c.5696C>T (p.Pro1899Leu) c.7025C>T (p.Pro2342Leu) c.5228C>T (p.Pro1743Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7584288T>A | CA448716090 | DSP | c.5697T>A (p.Pro1899=) c.7026T>A (p.Pro2342=) c.5229T>A (p.Pro1743=) | |
| 6 | g.7584288T>C | CA048923 | DSP | c.5697T>C (p.Pro1899=) c.7026T>C (p.Pro2342=) c.5229T>C (p.Pro1743=) | dbSNP ExAC gnomAD v2 |
| 6 | g.7584288T>G | CA448716091 | DSP | c.5697T>G (p.Pro1899=) c.7026T>G (p.Pro2342=) c.5229T>G (p.Pro1743=) | |
| 6 | g.7584288T= | CA1608610795 | DSP | c.5697T= (p.Pro1899=) c.7026T= (p.Pro2342=) c.5229T= (p.Pro1743=) | |
| 6 | g.7584289G>A | CA362692070 | DSP | c.5698G>A (p.Glu1900Lys) c.7027G>A (p.Glu2343Lys) c.5230G>A (p.Glu1744Lys) | dbSNP |
| 6 | g.7584289G>C | CA362692071 | DSP | c.5698G>C (p.Glu1900Gln) c.7027G>C (p.Glu2343Gln) c.5230G>C (p.Glu1744Gln) | |
| 6 | g.7584289G= | CA1608610799 | DSP | c.5698G= (p.Glu1900=) c.7027G= (p.Glu2343=) c.5230G= (p.Glu1744=) | |
| 6 | g.7584289G>T | CA362692072 | DSP | c.5698G>T (p.Glu1900Ter) c.7027G>T (p.Glu2343Ter) c.5230G>T (p.Glu1744Ter) | |
| 6 | g.7584290A>C | CA362692073 | DSP | c.5699A>C (p.Glu1900Ala) c.7028A>C (p.Glu2343Ala) c.5231A>C (p.Glu1744Ala) | |
| 6 | g.7584290A>G | CA362692074 | DSP | c.5699A>G (p.Glu1900Gly) c.7028A>G (p.Glu2343Gly) c.5231A>G (p.Glu1744Gly) | |
| 6 | g.7584290A>T | CA362692075 | DSP | c.5699A>T (p.Glu1900Val) c.7028A>T (p.Glu2343Val) c.5231A>T (p.Glu1744Val) | |
| 6 | g.7584291A>C | CA362692076 | DSP | c.5700A>C (p.Glu1900Asp) c.7029A>C (p.Glu2343Asp) c.5232A>C (p.Glu1744Asp) | |
| 6 | g.7584291A>G | CA448716097 | DSP | c.5700A>G (p.Glu1900=) c.7029A>G (p.Glu2343=) c.5232A>G (p.Glu1744=) | |
| 6 | g.7584291A>T | CA362692077 | DSP | c.5700A>T (p.Glu1900Asp) c.7029A>T (p.Glu2343Asp) c.5232A>T (p.Glu1744Asp) | |
| 6 | g.7584292A>C | CA362692078 | DSP | c.5701A>C (p.Thr1901Pro) c.7030A>C (p.Thr2344Pro) c.5233A>C (p.Thr1745Pro) | |
| 6 | g.7584292A>G | CA362692079 | DSP | c.5701A>G (p.Thr1901Ala) c.7030A>G (p.Thr2344Ala) c.5233A>G (p.Thr1745Ala) | |
| 6 | g.7584292A>T | CA362692080 | DSP | c.5701A>T (p.Thr1901Ser) c.7030A>T (p.Thr2344Ser) c.5233A>T (p.Thr1745Ser) | |
| 6 | g.7584293C>A | CA362692081 | DSP | c.5702C>A (p.Thr1901Lys) c.7031C>A (p.Thr2344Lys) c.5234C>A (p.Thr1745Lys) | |
| 6 | g.7584293C= | CA1608610805 | DSP | c.5702C= (p.Thr1901=) c.7031C= (p.Thr2344=) c.5234C= (p.Thr1745=) | |
| 6 | g.7584293C>G | CA048939 | DSP | c.5702C>G (p.Thr1901Arg) c.7031C>G (p.Thr2344Arg) c.5234C>G (p.Thr1745Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7584293C>T | CA362692082 | DSP | c.5702C>T (p.Thr1901Ile) c.7031C>T (p.Thr2344Ile) c.5234C>T (p.Thr1745Ile) | ClinVar dbSNP gnomAD v4 |
| 6 | g.7584294A>C | CA448716102 | DSP | c.5703A>C (p.Thr1901=) c.7032A>C (p.Thr2344=) c.5235A>C (p.Thr1745=) | |
| 6 | g.7584294A>G | CA448716103 | DSP | c.5703A>G (p.Thr1901=) c.7032A>G (p.Thr2344=) c.5235A>G (p.Thr1745=) | |
| 6 | g.7584294A>T | CA448716104 | DSP | c.5703A>T (p.Thr1901=) c.7032A>T (p.Thr2344=) c.5235A>T (p.Thr1745=) | |
| 6 | g.7584295G>A | CA362692083 | DSP | c.5704G>A (p.Gly1902Arg) c.7033G>A (p.Gly2345Arg) c.5236G>A (p.Gly1746Arg) | gnomAD v4 |
| 6 | g.7584295G>C | CA048952 | DSP | c.5704G>C (p.Gly1902Arg) c.7033G>C (p.Gly2345Arg) c.5236G>C (p.Gly1746Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7584295G= | CA1608610813 | DSP | c.5704G= (p.Gly1902=) c.7033G= (p.Gly2345=) c.5236G= (p.Gly1746=) | |
| 6 | g.7584295G>T | CA362692084 | DSP | c.5704G>T (p.Gly1902Ter) c.7033G>T (p.Gly2345Ter) c.5236G>T (p.Gly1746Ter) | |
| 6 | g.7584296G>A | CA133975584 | DSP | c.5705G>A (p.Gly1902Glu) c.7034G>A (p.Gly2345Glu) c.5237G>A (p.Gly1746Glu) | dbSNP |
| 6 | g.7584296G>C | CA362692085 | DSP | c.5705G>C (p.Gly1902Ala) c.7034G>C (p.Gly2345Ala) c.5237G>C (p.Gly1746Ala) | gnomAD v4 |
| 6 | g.7584296G= | CA1608610823 | DSP | c.5705G= (p.Gly1902=) c.7034G= (p.Gly2345=) c.5237G= (p.Gly1746=) | |
| 6 | g.7584296G>T | CA362692086 | DSP | c.5705G>T (p.Gly1902Val) c.7034G>T (p.Gly2345Val) c.5237G>T (p.Gly1746Val) | ClinVar |
| 6 | g.7584297A= | CA1608610832 | DSP | c.5706A= (p.Gly1902=) c.7035A= (p.Gly2345=) c.5238A= (p.Gly1746=) | |
| 6 | g.7584297A>C | CA448716112 | DSP | c.5706A>C (p.Gly1902=) c.7035A>C (p.Gly2345=) c.5238A>C (p.Gly1746=) | |
| 6 | g.7584297A>G | CA048974 | DSP | c.5706A>G (p.Gly1902=) c.7035A>G (p.Gly2345=) c.5238A>G (p.Gly1746=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7584297A>T | CA448716114 | DSP | c.5706A>T (p.Gly1902=) c.7035A>T (p.Gly2345=) c.5238A>T (p.Gly1746=) | |
| 6 | g.7584298A= | CA1608610842 | DSP | c.5707A= (p.Asn1903=) c.7036A= (p.Asn2346=) c.5239A= (p.Asn1747=) | |
| 6 | g.7584298A>C | CA362692089 | DSP | c.5707A>C (p.Asn1903His) c.7036A>C (p.Asn2346His) c.5239A>C (p.Asn1747His) | |
| 6 | g.7584298A>G | CA362692087 | DSP | c.5707A>G (p.Asn1903Asp) c.7036A>G (p.Asn2346Asp) c.5239A>G (p.Asn1747Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7584298A>T | CA362692088 | DSP | c.5707A>T (p.Asn1903Tyr) c.7036A>T (p.Asn2346Tyr) c.5239A>T (p.Asn1747Tyr) | |
| 6 | g.7584299A>C | CA362692090 | DSP | c.5708A>C (p.Asn1903Thr) c.7037A>C (p.Asn2346Thr) c.5240A>C (p.Asn1747Thr) | |
| 6 | g.7584299A>G | CA362692091 | DSP | c.5708A>G (p.Asn1903Ser) c.7037A>G (p.Asn2346Ser) c.5240A>G (p.Asn1747Ser) | |
| 6 | g.7584299A>T | CA362692092 | DSP | c.5708A>T (p.Asn1903Ile) c.7037A>T (p.Asn2346Ile) c.5240A>T (p.Asn1747Ile) | |
| 6 | g.7584300C>A | CA362692093 | DSP | c.5709C>A (p.Asn1903Lys) c.7038C>A (p.Asn2346Lys) c.5241C>A (p.Asn1747Lys) | |
| 6 | g.7584300C= | CA1608610849 | DSP | c.5709C= (p.Asn1903=) c.7038C= (p.Asn2346=) c.5241C= (p.Asn1747=) | |
| 6 | g.7584300C>G | CA362692094 | DSP | c.5709C>G (p.Asn1903Lys) c.7038C>G (p.Asn2346Lys) c.5241C>G (p.Asn1747Lys) | |
| 6 | g.7584300C>T | CA048992 | DSP | c.5709C>T (p.Asn1903=) c.7038C>T (p.Asn2346=) c.5241C>T (p.Asn1747=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7584304_7584306del | CA2578524526 | DSP | c.5713_5715del (p.Ile1905del) c.7042_7044del (p.Ile2348del) c.5245_5247del (p.Ile1749del) | |
| 6 | g.7584301A= | CA1608610854 | DSP | c.5710A= (p.Ile1904=) c.7039A= (p.Ile2347=) c.5242A= (p.Ile1748=) | |
| 6 | g.7584301A>C | CA049007 | DSP | c.5710A>C (p.Ile1904Leu) c.7039A>C (p.Ile2347Leu) c.5242A>C (p.Ile1748Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7584301A>G | CA049017 | DSP | c.5710A>G (p.Ile1904Val) c.7039A>G (p.Ile2347Val) c.5242A>G (p.Ile1748Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7584301A>T | CA362692095 | DSP | c.5710A>T (p.Ile1904Phe) c.7039A>T (p.Ile2347Phe) c.5242A>T (p.Ile1748Phe) | |
| 6 | g.7584302T>A | CA362692096 | DSP | c.5711T>A (p.Ile1904Asn) c.7040T>A (p.Ile2347Asn) c.5243T>A (p.Ile1748Asn) | |
| 6 | g.7584302T>C | CA362692097 | DSP | c.5711T>C (p.Ile1904Thr) c.7040T>C (p.Ile2347Thr) c.5243T>C (p.Ile1748Thr) | dbSNP |
| 6 | g.7584302T>G | CA362692098 | DSP | c.5711T>G (p.Ile1904Ser) c.7040T>G (p.Ile2347Ser) c.5243T>G (p.Ile1748Ser) | |
| 6 | g.7584302T= | CA1608610862 | DSP | c.5711T= (p.Ile1904=) c.7040T= (p.Ile2347=) c.5243T= (p.Ile1748=) | |
| 6 | g.7584303C>A | CA448716138 | DSP | c.5712C>A (p.Ile1904=) c.7041C>A (p.Ile2347=) c.5244C>A (p.Ile1748=) | |
| 6 | g.7584303C= | CA1608610867 | DSP | c.5712C= (p.Ile1904=) c.7041C= (p.Ile2347=) c.5244C= (p.Ile1748=) | |
| 6 | g.7584303C>G | CA049027 | DSP | c.5712C>G (p.Ile1904Met) c.7041C>G (p.Ile2347Met) c.5244C>G (p.Ile1748Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7584303C>T | CA448716139 | DSP | c.5712C>T (p.Ile1904=) c.7041C>T (p.Ile2347=) c.5244C>T (p.Ile1748=) | ClinVar dbSNP COSMIC |
| 6 | g.7584304A= | CA1608610872 | DSP | c.5713A= (p.Ile1905=) c.7042A= (p.Ile2348=) c.5245A= (p.Ile1749=) | |
| 6 | g.7584304A>C | CA362692099 | DSP | c.5713A>C (p.Ile1905Leu) c.7042A>C (p.Ile2348Leu) c.5245A>C (p.Ile1749Leu) | |
| 6 | g.7584304A>G | CA362692100 | DSP | c.5713A>G (p.Ile1905Val) c.7042A>G (p.Ile2348Val) c.5245A>G (p.Ile1749Val) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7584304A>T | CA362692101 | DSP | c.5713A>T (p.Ile1905Phe) c.7042A>T (p.Ile2348Phe) c.5245A>T (p.Ile1749Phe) | |
| 6 | g.7584305T>A | CA362692102 | DSP | c.5714T>A (p.Ile1905Asn) c.7043T>A (p.Ile2348Asn) c.5246T>A (p.Ile1749Asn) | |
| 6 | g.7584305T>C | CA362692103 | DSP | c.5714T>C (p.Ile1905Thr) c.7043T>C (p.Ile2348Thr) c.5246T>C (p.Ile1749Thr) | |
| 6 | g.7584305T>G | CA362692104 | DSP | c.5714T>G (p.Ile1905Ser) c.7043T>G (p.Ile2348Ser) c.5246T>G (p.Ile1749Ser) | |
| 6 | g.7584306C>A | CA448716144 | DSP | c.5715C>A (p.Ile1905=) c.7044C>A (p.Ile2348=) c.5247C>A (p.Ile1749=) | |
| 6 | g.7584306C>G | CA362692105 | DSP | c.5715C>G (p.Ile1905Met) c.7044C>G (p.Ile2348Met) c.5247C>G (p.Ile1749Met) | |
| 6 | g.7584306C>T | CA448716147 | DSP | c.5715C>T (p.Ile1905=) c.7044C>T (p.Ile2348=) c.5247C>T (p.Ile1749=) | ClinVar dbSNP |
| 6 | g.7584307T>A | CA362692106 | DSP | c.5716T>A (p.Ser1906Thr) c.7045T>A (p.Ser2349Thr) c.5248T>A (p.Ser1750Thr) | |
| 6 | g.7584307T>C | CA362692107 | DSP | c.5716T>C (p.Ser1906Pro) c.7045T>C (p.Ser2349Pro) c.5248T>C (p.Ser1750Pro) | ClinVar |
| 6 | g.7584307T>G | CA362692108 | DSP | c.5716T>G (p.Ser1906Ala) c.7045T>G (p.Ser2349Ala) c.5248T>G (p.Ser1750Ala) | |
| 6 | g.7584308C>A | CA362692109 | DSP | c.5717C>A (p.Ser1906Tyr) c.7046C>A (p.Ser2349Tyr) c.5249C>A (p.Ser1750Tyr) | |
| 6 | g.7584308C= | CA1608610877 | DSP | c.5717C= (p.Ser1906=) c.7046C= (p.Ser2349=) c.5249C= (p.Ser1750=) | |
| 6 | g.7584308C>G | CA049032 | DSP | c.5717C>G (p.Ser1906Cys) c.7046C>G (p.Ser2349Cys) c.5249C>G (p.Ser1750Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7584308C>T | CA362692110 | DSP | c.5717C>T (p.Ser1906Phe) c.7046C>T (p.Ser2349Phe) c.5249C>T (p.Ser1750Phe) | |
| 6 | g.7584309T>A | CA448716154 | DSP | c.5718T>A (p.Ser1906=) c.7047T>A (p.Ser2349=) c.5250T>A (p.Ser1750=) | |
| 6 | g.7584309T>C | CA448716156 | DSP | c.5718T>C (p.Ser1906=) c.7047T>C (p.Ser2349=) c.5250T>C (p.Ser1750=) | |
| 6 | g.7584309T>G | CA448716158 | DSP | c.5718T>G (p.Ser1906=) c.7047T>G (p.Ser2349=) c.5250T>G (p.Ser1750=) | |
| 6 | g.7584310_7584311del | CA2695205960 | DSP | c.5719_5720del (p.Leu1907ValfsTer6) c.7048_7049del (p.Leu2350ValfsTer6) c.5251_5252del (p.Leu1751ValfsTer6) | |
| 6 | g.7584310T>A | CA362692112 | DSP | c.5719T>A (p.Leu1907Met) c.7048T>A (p.Leu2350Met) c.5251T>A (p.Leu1751Met) | |
| 6 | g.7584310T>C | CA448716161 | DSP | c.5719T>C (p.Leu1907=) c.7048T>C (p.Leu2350=) c.5251T>C (p.Leu1751=) | |
| 6 | g.7584310T>G | CA362692111 | DSP | c.5719T>G (p.Leu1907Val) c.7048T>G (p.Leu2350Val) c.5251T>G (p.Leu1751Val) | COSMIC |
| 6 | g.7584311T>A | CA362692113 | DSP | c.5720T>A (p.Leu1907Ter) c.7049T>A (p.Leu2350Ter) c.5252T>A (p.Leu1751Ter) | |
| 6 | g.7584311T>C | CA362692114 | DSP | c.5720T>C (p.Leu1907Ser) c.7049T>C (p.Leu2350Ser) c.5252T>C (p.Leu1751Ser) | |
| 6 | g.7584311T>G | CA362692115 | DSP | c.5720T>G (p.Leu1907Trp) c.7049T>G (p.Leu2350Trp) c.5252T>G (p.Leu1751Trp) | |
| 6 | g.7584312G>A | CA448716164 | DSP | c.5721G>A (p.Leu1907=) c.7050G>A (p.Leu2350=) c.5253G>A (p.Leu1751=) | |
| 6 | g.7584312G>C | CA362692116 | DSP | c.5721G>C (p.Leu1907Phe) c.7050G>C (p.Leu2350Phe) c.5253G>C (p.Leu1751Phe) | |
| 6 | g.7584312G>T | CA362692117 | DSP | c.5721G>T (p.Leu1907Phe) c.7050G>T (p.Leu2350Phe) c.5253G>T (p.Leu1751Phe) | gnomAD v4 |
| 6 | g.7584313T>A | CA362692118 | DSP | c.5722T>A (p.Phe1908Ile) c.7051T>A (p.Phe2351Ile) c.5254T>A (p.Phe1752Ile) | |
| 6 | g.7584313T>C | CA362692119 | DSP | c.5722T>C (p.Phe1908Leu) c.7051T>C (p.Phe2351Leu) c.5254T>C (p.Phe1752Leu) | |
| 6 | g.7584313T>G | CA362692120 | DSP | c.5722T>G (p.Phe1908Val) c.7051T>G (p.Phe2351Val) c.5254T>G (p.Phe1752Val) | gnomAD v4 |
| 6 | g.7584314T>A | CA362692121 | DSP | c.5723T>A (p.Phe1908Tyr) c.7052T>A (p.Phe2351Tyr) c.5255T>A (p.Phe1752Tyr) | dbSNP |
| 6 | g.7584314T>C | CA362692122 | DSP | c.5723T>C (p.Phe1908Ser) c.7052T>C (p.Phe2351Ser) c.5255T>C (p.Phe1752Ser) | |
| 6 | g.7584314T>G | CA362692123 | DSP | c.5723T>G (p.Phe1908Cys) c.7052T>G (p.Phe2351Cys) c.5255T>G (p.Phe1752Cys) | |
| 6 | g.7584314T= | CA1608610882 | DSP | c.5723T= (p.Phe1908=) c.7052T= (p.Phe2351=) c.5255T= (p.Phe1752=) | |
| 6 | g.7584315C>A | CA362692124 | DSP | c.5724C>A (p.Phe1908Leu) c.7053C>A (p.Phe2351Leu) c.5256C>A (p.Phe1752Leu) | |
| 6 | g.7584315C>G | CA362692125 | DSP | c.5724C>G (p.Phe1908Leu) c.7053C>G (p.Phe2351Leu) c.5256C>G (p.Phe1752Leu) | |
| 6 | g.7584315C>T | CA448716174 | DSP | c.5724C>T (p.Phe1908=) c.7053C>T (p.Phe2351=) c.5256C>T (p.Phe1752=) | |
| 6 | g.7584316C>A | CA362692128 | DSP | c.5725C>A (p.Gln1909Lys) c.7054C>A (p.Gln2352Lys) c.5257C>A (p.Gln1753Lys) | |
| 6 | g.7584316C>G | CA362692127 | DSP | c.5725C>G (p.Gln1909Glu) c.7054C>G (p.Gln2352Glu) c.5257C>G (p.Gln1753Glu) | |
| 6 | g.7584316C>T | CA362692126 | DSP | c.5725C>T (p.Gln1909Ter) c.7054C>T (p.Gln2352Ter) c.5257C>T (p.Gln1753Ter) | ClinVar gnomAD v4 |
| 6 | g.7584317A>C | CA362692129 | DSP | c.5726A>C (p.Gln1909Pro) c.7055A>C (p.Gln2352Pro) c.5258A>C (p.Gln1753Pro) | |
| 6 | g.7584317A>G | CA362692130 | DSP | c.5726A>G (p.Gln1909Arg) c.7055A>G (p.Gln2352Arg) c.5258A>G (p.Gln1753Arg) | |
| 6 | g.7584317A>T | CA362692131 | DSP | c.5726A>T (p.Gln1909Leu) c.7055A>T (p.Gln2352Leu) c.5258A>T (p.Gln1753Leu) | |
| 6 | g.7584318A>C | CA362692132 | DSP | c.5727A>C (p.Gln1909His) c.7056A>C (p.Gln2352His) c.5259A>C (p.Gln1753His) | |
| 6 | g.7584318A>G | CA448716179 | DSP | c.5727A>G (p.Gln1909=) c.7056A>G (p.Gln2352=) c.5259A>G (p.Gln1753=) | |
| 6 | g.7584318A>T | CA362692133 | DSP | c.5727A>T (p.Gln1909His) c.7056A>T (p.Gln2352His) c.5259A>T (p.Gln1753His) | |
| 6 | g.7584319G>A | CA362692134 | DSP | c.5728G>A (p.Ala1910Thr) c.7057G>A (p.Ala2353Thr) c.5260G>A (p.Ala1754Thr) | |
| 6 | g.7584319G>C | CA362692135 | DSP | c.5728G>C (p.Ala1910Pro) c.7057G>C (p.Ala2353Pro) c.5260G>C (p.Ala1754Pro) | |
| 6 | g.7584319G>T | CA362692136 | DSP | c.5728G>T (p.Ala1910Ser) c.7057G>T (p.Ala2353Ser) c.5260G>T (p.Ala1754Ser) | |
| 6 | g.7584320C>A | CA362692137 | DSP | c.5729C>A (p.Ala1910Asp) c.7058C>A (p.Ala2353Asp) c.5261C>A (p.Ala1754Asp) | |
| 6 | g.7584320C>G | CA362692138 | DSP | c.5729C>G (p.Ala1910Gly) c.7058C>G (p.Ala2353Gly) c.5261C>G (p.Ala1754Gly) | |
| 6 | g.7584320C>T | CA362692139 | DSP | c.5729C>T (p.Ala1910Val) c.7058C>T (p.Ala2353Val) c.5261C>T (p.Ala1754Val) | |
| 6 | g.7584321C>A | CA448716185 | DSP | c.5730C>A (p.Ala1910=) c.7059C>A (p.Ala2353=) c.5262C>A (p.Ala1754=) | |
| 6 | g.7584321C>G | CA448716190 | DSP | c.5730C>G (p.Ala1910=) c.7059C>G (p.Ala2353=) c.5262C>G (p.Ala1754=) | gnomAD v4 |
| 6 | g.7584321C>T | CA448716187 | DSP | c.5730C>T (p.Ala1910=) c.7059C>T (p.Ala2353=) c.5262C>T (p.Ala1754=) | |
| 6 | g.7584322A= | CA1608610892 | DSP | c.5731A= (p.Met1911=) c.7060A= (p.Met2354=) c.5263A= (p.Met1755=) | |
| 6 | g.7584322A>C | CA362692140 | DSP | c.5731A>C (p.Met1911Leu) c.7060A>C (p.Met2354Leu) c.5263A>C (p.Met1755Leu) | |
| 6 | g.7584322A>G | CA362692141 | DSP | c.5731A>G (p.Met1911Val) c.7060A>G (p.Met2354Val) c.5263A>G (p.Met1755Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7584322A>T | CA362692142 | DSP | c.5731A>T (p.Met1911Leu) c.7060A>T (p.Met2354Leu) c.5263A>T (p.Met1755Leu) | gnomAD v4 |
| 6 | g.7584323T>A | CA362692145 | DSP | c.5732T>A (p.Met1911Lys) c.7061T>A (p.Met2354Lys) c.5264T>A (p.Met1755Lys) | |
| 6 | g.7584323T>C | CA362692144 | DSP | c.5732T>C (p.Met1911Thr) c.7061T>C (p.Met2354Thr) c.5264T>C (p.Met1755Thr) | |
| 6 | g.7584323T>G | CA362692143 | DSP | c.5732T>G (p.Met1911Arg) c.7061T>G (p.Met2354Arg) c.5264T>G (p.Met1755Arg) | |
| 6 | g.7584324G>A | CA362692146 | DSP | c.5733G>A (p.Met1911Ile) c.7062G>A (p.Met2354Ile) c.5265G>A (p.Met1755Ile) | |
| 6 | g.7584324G>C | CA362692147 | DSP | c.5733G>C (p.Met1911Ile) c.7062G>C (p.Met2354Ile) c.5265G>C (p.Met1755Ile) | |
| 6 | g.7584324G>T | CA362692148 | DSP | c.5733G>T (p.Met1911Ile) c.7062G>T (p.Met2354Ile) c.5265G>T (p.Met1755Ile) | |
| 6 | g.7584325A>C | CA362692149 | DSP | c.5734A>C (p.Asn1912His) c.7063A>C (p.Asn2355His) c.5266A>C (p.Asn1756His) | |
| 6 | g.7584325A>G | CA362692150 | DSP | c.5734A>G (p.Asn1912Asp) c.7063A>G (p.Asn2355Asp) c.5266A>G (p.Asn1756Asp) | |
| 6 | g.7584325A>T | CA362692151 | DSP | c.5734A>T (p.Asn1912Tyr) c.7063A>T (p.Asn2355Tyr) c.5266A>T (p.Asn1756Tyr) | |
| 6 | g.7584326A>C | CA362692154 | DSP | c.5735A>C (p.Asn1912Thr) c.7064A>C (p.Asn2355Thr) c.5267A>C (p.Asn1756Thr) | |
| 6 | g.7584326A>G | CA362692152 | DSP | c.5735A>G (p.Asn1912Ser) c.7064A>G (p.Asn2355Ser) c.5267A>G (p.Asn1756Ser) | |
| 6 | g.7584326A>T | CA362692153 | DSP | c.5735A>T (p.Asn1912Ile) c.7064A>T (p.Asn2355Ile) c.5267A>T (p.Asn1756Ile) | |
| 6 | g.7584327T>A | CA362692155 | DSP | c.5736T>A (p.Asn1912Lys) c.7065T>A (p.Asn2355Lys) c.5268T>A (p.Asn1756Lys) | |
| 6 | g.7584327T>C | CA448716199 | DSP | c.5736T>C (p.Asn1912=) c.7065T>C (p.Asn2355=) c.5268T>C (p.Asn1756=) | |
| 6 | g.7584327T>G | CA362692156 | DSP | c.5736T>G (p.Asn1912Lys) c.7065T>G (p.Asn2355Lys) c.5268T>G (p.Asn1756Lys) | |
| 6 | g.7584328A= | CA1608610897 | DSP | c.5737A= (p.Lys1913=) c.7066A= (p.Lys2356=) c.5269A= (p.Lys1757=) | |
| 6 | g.7584328A>C | CA362692157 | DSP | c.5737A>C (p.Lys1913Gln) c.7066A>C (p.Lys2356Gln) c.5269A>C (p.Lys1757Gln) | |
| 6 | g.7584328A>G | CA362692158 | DSP | c.5737A>G (p.Lys1913Glu) c.7066A>G (p.Lys2356Glu) c.5269A>G (p.Lys1757Glu) | |
| 6 | g.7584328A>T | CA362692159 | DSP | c.5737A>T (p.Lys1913Ter) c.7066A>T (p.Lys2356Ter) c.5269A>T (p.Lys1757Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7584329A= | CA1608610903 | DSP | c.5738A= (p.Lys1913=) c.7067A= (p.Lys2356=) c.5270A= (p.Lys1757=) | |
| 6 | g.7584329A>C | CA049050 | DSP | c.5738A>C (p.Lys1913Thr) c.7067A>C (p.Lys2356Thr) c.5270A>C (p.Lys1757Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.7584329A>G | CA362692161 | DSP | c.5738A>G (p.Lys1913Arg) c.7067A>G (p.Lys2356Arg) c.5270A>G (p.Lys1757Arg) | |
| 6 | g.7584329A>T | CA362692160 | DSP | c.5738A>T (p.Lys1913Met) c.7067A>T (p.Lys2356Met) c.5270A>T (p.Lys1757Met) | |
| 6 | g.7584330G>A | CA049064 | DSP | c.5739G>A (p.Lys1913=) c.7068G>A (p.Lys2356=) c.5271G>A (p.Lys1757=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7584330G>C | CA362692162 | DSP | c.5739G>C (p.Lys1913Asn) c.7068G>C (p.Lys2356Asn) c.5271G>C (p.Lys1757Asn) | |
| 6 | g.7584330G= | CA1608610912 | DSP | c.5739G= (p.Lys1913=) c.7068G= (p.Lys2356=) c.5271G= (p.Lys1757=) | |
| 6 | g.7584330G>T | CA362692163 | DSP | c.5739G>T (p.Lys1913Asn) c.7068G>T (p.Lys2356Asn) c.5271G>T (p.Lys1757Asn) | |
| 6 | g.7584331G>A | CA362692164 | DSP | c.5740G>A (p.Glu1914Lys) c.7069G>A (p.Glu2357Lys) c.5272G>A (p.Glu1758Lys) | gnomAD v4 |
| 6 | g.7584331G>C | CA362692165 | DSP | c.5740G>C (p.Glu1914Gln) c.7069G>C (p.Glu2357Gln) c.5272G>C (p.Glu1758Gln) | ClinVar gnomAD v4 |
| 6 | g.7584331G>T | CA362692166 | DSP | c.5740G>T (p.Glu1914Ter) c.7069G>T (p.Glu2357Ter) c.5272G>T (p.Glu1758Ter) | |
| 6 | g.7584332A>C | CA362692167 | DSP | c.5741A>C (p.Glu1914Ala) c.7070A>C (p.Glu2357Ala) c.5273A>C (p.Glu1758Ala) | |
| 6 | g.7584332A>G | CA362692168 | DSP | c.5741A>G (p.Glu1914Gly) c.7070A>G (p.Glu2357Gly) c.5273A>G (p.Glu1758Gly) | |
| 6 | g.7584332A>T | CA362692169 | DSP | c.5741A>T (p.Glu1914Val) c.7070A>T (p.Glu2357Val) c.5273A>T (p.Glu1758Val) | |
| 6 | g.7584333A>C | CA362692170 | DSP | c.5742A>C (p.Glu1914Asp) c.7071A>C (p.Glu2357Asp) c.5274A>C (p.Glu1758Asp) | gnomAD v4 |
| 6 | g.7584333A>G | CA448716215 | DSP | c.5742A>G (p.Glu1914=) c.7071A>G (p.Glu2357=) c.5274A>G (p.Glu1758=) | |
| 6 | g.7584333A>T | CA362692171 | DSP | c.5742A>T (p.Glu1914Asp) c.7071A>T (p.Glu2357Asp) c.5274A>T (p.Glu1758Asp) | COSMIC |
| 6 | g.7584334C>A | CA362692174 | DSP | c.5743C>A (p.Leu1915Ile) c.7072C>A (p.Leu2358Ile) c.5275C>A (p.Leu1759Ile) | |
| 6 | g.7584334C>G | CA362692172 | DSP | c.5743C>G (p.Leu1915Val) c.7072C>G (p.Leu2358Val) c.5275C>G (p.Leu1759Val) | |
| 6 | g.7584334C>T | CA362692173 | DSP | c.5743C>T (p.Leu1915Phe) c.7072C>T (p.Leu2358Phe) c.5275C>T (p.Leu1759Phe) | |
| 6 | g.7584335T>A | CA362692175 | DSP | c.5744T>A (p.Leu1915His) c.7073T>A (p.Leu2358His) c.5276T>A (p.Leu1759His) | |
| 6 | g.7584335T>C | CA362692176 | DSP | c.5744T>C (p.Leu1915Pro) c.7073T>C (p.Leu2358Pro) c.5276T>C (p.Leu1759Pro) | |
| 6 | g.7584335T>G | CA362692177 | DSP | c.5744T>G (p.Leu1915Arg) c.7073T>G (p.Leu2358Arg) c.5276T>G (p.Leu1759Arg) | |
| 6 | g.7584336C>A | CA448716225 | DSP | c.5745C>A (p.Leu1915=) c.7074C>A (p.Leu2358=) c.5277C>A (p.Leu1759=) | |
| 6 | g.7584336C= | CA1608610923 | DSP | c.5745C= (p.Leu1915=) c.7074C= (p.Leu2358=) c.5277C= (p.Leu1759=) | |
| 6 | g.7584336C>G | CA448716231 | DSP | c.5745C>G (p.Leu1915=) c.7074C>G (p.Leu2358=) c.5277C>G (p.Leu1759=) | |
| 6 | g.7584336C>T | CA049076 | DSP | c.5745C>T (p.Leu1915=) c.7074C>T (p.Leu2358=) c.5277C>T (p.Leu1759=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7584336_7584337delinsCA | CA1608610919 | DSP | c.5745_5746delinsCA (p.Leu1915=) c.7074_7075delinsCA (p.Leu2358=) c.5277_5278delinsCA (p.Leu1759=) | |
| 6 | g.7584337del | CA891843182 | DSP | c.5746del (p.Ile1916SerfsTer10) c.7075del (p.Ile2359SerfsTer10) c.5278del (p.Ile1760SerfsTer10) | ClinVar dbSNP |
| 6 | g.7584337A= | CA1608610938 | DSP | c.5746A= (p.Ile1916=) c.7075A= (p.Ile2359=) c.5278A= (p.Ile1760=) | |
| 6 | g.7584337A>C | CA362692178 | DSP | c.5746A>C (p.Ile1916Leu) c.7075A>C (p.Ile2359Leu) c.5278A>C (p.Ile1760Leu) | gnomAD v4 |
| 6 | g.7584337A>G | CA049089 | DSP | c.5746A>G (p.Ile1916Val) c.7075A>G (p.Ile2359Val) c.5278A>G (p.Ile1760Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7584337A>T | CA362692179 | DSP | c.5746A>T (p.Ile1916Phe) c.7075A>T (p.Ile2359Phe) c.5278A>T (p.Ile1760Phe) | |
| 6 | g.7584338T>A | CA362692180 | DSP | c.5747T>A (p.Ile1916Asn) c.7076T>A (p.Ile2359Asn) c.5279T>A (p.Ile1760Asn) | gnomAD v4 |
| 6 | g.7584338T>C | CA362692181 | DSP | c.5747T>C (p.Ile1916Thr) c.7076T>C (p.Ile2359Thr) c.5279T>C (p.Ile1760Thr) | |
| 6 | g.7584338T>G | CA362692182 | DSP | c.5747T>G (p.Ile1916Ser) c.7076T>G (p.Ile2359Ser) c.5279T>G (p.Ile1760Ser) | gnomAD v4 |
| 6 | g.7584339del | CA2677219268 | DSP | c.5748del (p.Ile1916MetfsTer10) c.7077del (p.Ile2359MetfsTer10) c.5280del (p.Ile1760MetfsTer10) | gnomAD v4 |
| 6 | g.7584339C>A | CA448716235 | DSP | c.5748C>A (p.Ile1916=) c.7077C>A (p.Ile2359=) c.5280C>A (p.Ile1760=) | ClinVar |
| 6 | g.7584339C= | CA1608610954 | DSP | c.5748C= (p.Ile1916=) c.7077C= (p.Ile2359=) c.5280C= (p.Ile1760=) | |
| 6 | g.7584339C>G | CA362692183 | DSP | c.5748C>G (p.Ile1916Met) c.7077C>G (p.Ile2359Met) c.5280C>G (p.Ile1760Met) | |
| 6 | g.7584339C>T | CA16605089 | DSP | c.5748C>T (p.Ile1916=) c.7077C>T (p.Ile2359=) c.5280C>T (p.Ile1760=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7584340G>A | CA362692184 | DSP | c.5749G>A (p.Glu1917Lys) c.7078G>A (p.Glu2360Lys) c.5281G>A (p.Glu1761Lys) | gnomAD v4 COSMIC |
| 6 | g.7584340G>C | CA362692185 | DSP | c.5749G>C (p.Glu1917Gln) c.7078G>C (p.Glu2360Gln) c.5281G>C (p.Glu1761Gln) | |
| 6 | g.7584340G>T | CA362692186 | DSP | c.5749G>T (p.Glu1917Ter) c.7078G>T (p.Glu2360Ter) c.5281G>T (p.Glu1761Ter) | |
| 6 | g.7584341A= | CA1608610960 | DSP | c.5750A= (p.Glu1917=) c.7079A= (p.Glu2360=) c.5282A= (p.Glu1761=) | |
| 6 | g.7584341A>C | CA362692189 | DSP | c.5750A>C (p.Glu1917Ala) c.7079A>C (p.Glu2360Ala) c.5282A>C (p.Glu1761Ala) | gnomAD v4 |
| 6 | g.7584341A>G | CA362692188 | DSP | c.5750A>G (p.Glu1917Gly) c.7079A>G (p.Glu2360Gly) c.5282A>G (p.Glu1761Gly) | |
| 6 | g.7584341A>T | CA362692187 | DSP | c.5750A>T (p.Glu1917Val) c.7079A>T (p.Glu2360Val) c.5282A>T (p.Glu1761Val) | |
| 6 | g.7584344dup | CA2499218565 | DSP | c.5753dup (p.His1920ProfsTer17) c.7082dup (p.His2363ProfsTer17) c.5285dup (p.His1764ProfsTer17) | ClinVar dbSNP |
| 6 | g.7584341_7584342insC | CA133975659 | DSP | c.5750_5751insC (p.Glu1917AspfsTer20) c.7079_7080insC (p.Glu2360AspfsTer20) c.5282_5283insC (p.Glu1761AspfsTer20) | dbSNP |
| 6 | g.7584342A>C | CA362692190 | DSP | c.5751A>C (p.Glu1917Asp) c.7080A>C (p.Glu2360Asp) c.5283A>C (p.Glu1761Asp) | |
| 6 | g.7584342A>G | CA448716243 | DSP | c.5751A>G (p.Glu1917=) c.7080A>G (p.Glu2360=) c.5283A>G (p.Glu1761=) | gnomAD v4 |
| 6 | g.7584342A>T | CA362692191 | DSP | c.5751A>T (p.Glu1917Asp) c.7080A>T (p.Glu2360Asp) c.5283A>T (p.Glu1761Asp) | |
| 6 | g.7584343A>C | CA362692192 | DSP | c.5752A>C (p.Lys1918Gln) c.7081A>C (p.Lys2361Gln) c.5284A>C (p.Lys1762Gln) | |
| 6 | g.7584343A>G | CA362692193 | DSP | c.5752A>G (p.Lys1918Glu) c.7081A>G (p.Lys2361Glu) c.5284A>G (p.Lys1762Glu) | |
| 6 | g.7584343A>T | CA362692194 | DSP | c.5752A>T (p.Lys1918Ter) c.7081A>T (p.Lys2361Ter) c.5284A>T (p.Lys1762Ter) | |
| 6 | g.7584344A>C | CA362692195 | DSP | c.5753A>C (p.Lys1918Thr) c.7082A>C (p.Lys2361Thr) c.5285A>C (p.Lys1762Thr) | |
| 6 | g.7584344A>G | CA362692196 | DSP | c.5753A>G (p.Lys1918Arg) c.7082A>G (p.Lys2361Arg) c.5285A>G (p.Lys1762Arg) | |
| 6 | g.7584344A>T | CA362692197 | DSP | c.5753A>T (p.Lys1918Met) c.7082A>T (p.Lys2361Met) c.5285A>T (p.Lys1762Met) | |
| 6 | g.7584345G>A | CA448716252 | DSP | c.5754G>A (p.Lys1918=) c.7083G>A (p.Lys2361=) c.5286G>A (p.Lys1762=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7584345G>C | CA362692198 | DSP | c.5754G>C (p.Lys1918Asn) c.7083G>C (p.Lys2361Asn) c.5286G>C (p.Lys1762Asn) | |
| 6 | g.7584345G= | CA1608610966 | DSP | c.5754G= (p.Lys1918=) c.7083G= (p.Lys2361=) c.5286G= (p.Lys1762=) | |
| 6 | g.7584345G>T | CA362692199 | DSP | c.5754G>T (p.Lys1918Asn) c.7083G>T (p.Lys2361Asn) c.5286G>T (p.Lys1762Asn) | |
| 6 | g.7584346G>A | CA362692200 | DSP | c.5755G>A (p.Gly1919Ser) c.7084G>A (p.Gly2362Ser) c.5287G>A (p.Gly1763Ser) | ClinVar gnomAD v4 |
| 6 | g.7584346G>C | CA362692201 | DSP | c.5755G>C (p.Gly1919Arg) c.7084G>C (p.Gly2362Arg) c.5287G>C (p.Gly1763Arg) | |
| 6 | g.7584346G>T | CA362692202 | DSP | c.5755G>T (p.Gly1919Cys) c.7084G>T (p.Gly2362Cys) c.5287G>T (p.Gly1763Cys) | |
| 6 | g.7584347G>A | CA362692205 | DSP | c.5756G>A (p.Gly1919Asp) c.7085G>A (p.Gly2362Asp) c.5288G>A (p.Gly1763Asp) | gnomAD v4 |
| 6 | g.7584347G>C | CA362692204 | DSP | c.5756G>C (p.Gly1919Ala) c.7085G>C (p.Gly2362Ala) c.5288G>C (p.Gly1763Ala) | |
| 6 | g.7584347G>T | CA362692203 | DSP | c.5756G>T (p.Gly1919Val) c.7085G>T (p.Gly2362Val) c.5288G>T (p.Gly1763Val) | |
| 6 | g.7584348C>A | CA448716261 | DSP | c.5757C>A (p.Gly1919=) c.7086C>A (p.Gly2362=) c.5289C>A (p.Gly1763=) | |
| 6 | g.7584348C>G | CA448716263 | DSP | c.5757C>G (p.Gly1919=) c.7086C>G (p.Gly2362=) c.5289C>G (p.Gly1763=) | |
| 6 | g.7584348C>T | CA448716262 | DSP | c.5757C>T (p.Gly1919=) c.7086C>T (p.Gly2362=) c.5289C>T (p.Gly1763=) | |
| 6 | g.7584349C>A | CA362692206 | DSP | c.5758C>A (p.His1920Asn) c.7087C>A (p.His2363Asn) c.5290C>A (p.His1764Asn) | COSMIC |
| 6 | g.7584349C>G | CA362692207 | DSP | c.5758C>G (p.His1920Asp) c.7087C>G (p.His2363Asp) c.5290C>G (p.His1764Asp) | |
| 6 | g.7584349C>T | CA362692208 | DSP | c.5758C>T (p.His1920Tyr) c.7087C>T (p.His2363Tyr) c.5290C>T (p.His1764Tyr) | |
| 6 | g.7584350A>C | CA362692209 | DSP | c.5759A>C (p.His1920Pro) c.7088A>C (p.His2363Pro) c.5291A>C (p.His1764Pro) | |
| 6 | g.7584350A>G | CA362692210 | DSP | c.5759A>G (p.His1920Arg) c.7088A>G (p.His2363Arg) c.5291A>G (p.His1764Arg) | |
| 6 | g.7584350A>T | CA362692211 | DSP | c.5759A>T (p.His1920Leu) c.7088A>T (p.His2363Leu) c.5291A>T (p.His1764Leu) | |
| 6 | g.7584351C>A | CA362692213 | DSP | c.5760C>A (p.His1920Gln) c.7089C>A (p.His2363Gln) c.5292C>A (p.His1764Gln) | |
| 6 | g.7584351C= | CA1608610976 | DSP | c.5760C= (p.His1920=) c.7089C= (p.His2363=) c.5292C= (p.His1764=) | |
| 6 | g.7584351C>G | CA362692212 | DSP | c.5760C>G (p.His1920Gln) c.7089C>G (p.His2363Gln) c.5292C>G (p.His1764Gln) | |
| 6 | g.7584351C>T | CA133975665 | DSP | c.5760C>T (p.His1920=) c.7089C>T (p.His2363=) c.5292C>T (p.His1764=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.7584352G>A | CA362692214 | DSP | c.5761G>A (p.Gly1921Ser) c.7090G>A (p.Gly2364Ser) c.5293G>A (p.Gly1765Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.7584352G>C | CA362692215 | DSP | c.5761G>C (p.Gly1921Arg) c.7090G>C (p.Gly2364Arg) c.5293G>C (p.Gly1765Arg) | |
| 6 | g.7584352G= | CA1608610984 | DSP | c.5761G= (p.Gly1921=) c.7090G= (p.Gly2364=) c.5293G= (p.Gly1765=) | |
| 6 | g.7584352G>T | CA362692216 | DSP | c.5761G>T (p.Gly1921Cys) c.7090G>T (p.Gly2364Cys) c.5293G>T (p.Gly1765Cys) | |
| 6 | g.7584353G>A | CA362692217 | DSP | c.5762G>A (p.Gly1921Asp) c.7091G>A (p.Gly2364Asp) c.5294G>A (p.Gly1765Asp) | |
| 6 | g.7584353G>C | CA362692218 | DSP | c.5762G>C (p.Gly1921Ala) c.7091G>C (p.Gly2364Ala) c.5294G>C (p.Gly1765Ala) | |
| 6 | g.7584353G= | CA1608610987 | DSP | c.5762G= (p.Gly1921=) c.7091G= (p.Gly2364=) c.5294G= (p.Gly1765=) | |
| 6 | g.7584353G>T | CA362692219 | DSP | c.5762G>T (p.Gly1921Val) c.7091G>T (p.Gly2364Val) c.5294G>T (p.Gly1765Val) | dbSNP gnomAD v4 |
| 6 | g.7584354T>A | CA448716264 | DSP | c.5763T>A (p.Gly1921=) c.7092T>A (p.Gly2364=) c.5295T>A (p.Gly1765=) | |
| 6 | g.7584354T>C | CA448716266 | DSP | c.5763T>C (p.Gly1921=) c.7092T>C (p.Gly2364=) c.5295T>C (p.Gly1765=) | |
| 6 | g.7584354T>G | CA448716269 | DSP | c.5763T>G (p.Gly1921=) c.7092T>G (p.Gly2364=) c.5295T>G (p.Gly1765=) | |
| 6 | g.7584358_7584365del | CA2695205961 | DSP | c.5767_5774del (p.Leu1924SerfsTer10) c.7096_7103del (p.Leu2367SerfsTer10) c.5299_5306del (p.Leu1768SerfsTer10) | |
| 6 | g.7584355A= | CA1608610998 | DSP | c.5764A= (p.Ile1922=) c.7093A= (p.Ile2365=) c.5296A= (p.Ile1766=) | |
| 6 | g.7584355A>C | CA362692221 | DSP | c.5764A>C (p.Ile1922Leu) c.7093A>C (p.Ile2365Leu) c.5296A>C (p.Ile1766Leu) | |
| 6 | g.7584355A>G | CA049101 | DSP | c.5764A>G (p.Ile1922Val) c.7093A>G (p.Ile2365Val) c.5296A>G (p.Ile1766Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.7584355A>T | CA362692220 | DSP | c.5764A>T (p.Ile1922Phe) c.7093A>T (p.Ile2365Phe) c.5296A>T (p.Ile1766Phe) | |
| 6 | g.7584356T>A | CA362692222 | DSP | c.5765T>A (p.Ile1922Asn) c.7094T>A (p.Ile2365Asn) c.5297T>A (p.Ile1766Asn) | |
| 6 | g.7584356T>C | CA362692223 | DSP | c.5765T>C (p.Ile1922Thr) c.7094T>C (p.Ile2365Thr) c.5297T>C (p.Ile1766Thr) | |
| 6 | g.7584356T>G | CA362692224 | DSP | c.5765T>G (p.Ile1922Ser) c.7094T>G (p.Ile2365Ser) c.5297T>G (p.Ile1766Ser) | |
| 6 | g.7584357T>A | CA448716280 | DSP | c.5766T>A (p.Ile1922=) c.7095T>A (p.Ile2365=) c.5298T>A (p.Ile1766=) | |
| 6 | g.7584357T>C | CA448716282 | DSP | c.5766T>C (p.Ile1922=) c.7095T>C (p.Ile2365=) c.5298T>C (p.Ile1766=) | |
| 6 | g.7584357T>G | CA362692225 | DSP | c.5766T>G (p.Ile1922Met) c.7095T>G (p.Ile2365Met) c.5298T>G (p.Ile1766Met) | |
| 6 | g.7584358C>A | CA362692226 | DSP | c.5767C>A (p.Arg1923Ser) c.7096C>A (p.Arg2366Ser) c.5299C>A (p.Arg1767Ser) | gnomAD v4 |
| 6 | g.7584358C= | CA1608610999 | DSP | c.5767C= (p.Arg1923=) c.7096C= (p.Arg2366=) c.5299C= (p.Arg1767=) | |
| 6 | g.7584358C>G | CA362692227 | DSP | c.5767C>G (p.Arg1923Gly) c.7096C>G (p.Arg2366Gly) c.5299C>G (p.Arg1767Gly) | |
| 6 | g.7584358C>T | CA007112 | DSP | c.5767C>T (p.Arg1923Cys) c.7096C>T (p.Arg2366Cys) c.5299C>T (p.Arg1767Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7584359G>A | CA007120 | DSP | c.5768G>A (p.Arg1923His) c.7097G>A (p.Arg2366His) c.5300G>A (p.Arg1767His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7584359G>C | CA362692228 | DSP | c.5768G>C (p.Arg1923Pro) c.7097G>C (p.Arg2366Pro) c.5300G>C (p.Arg1767Pro) | |
| 6 | g.7584359G= | CA1608611006 | DSP | c.5768G= (p.Arg1923=) c.7097G= (p.Arg2366=) c.5300G= (p.Arg1767=) | |
| 6 | g.7584359G>T | CA362692229 | DSP | c.5768G>T (p.Arg1923Leu) c.7097G>T (p.Arg2366Leu) c.5300G>T (p.Arg1767Leu) | |
| 6 | g.7584360C>A | CA448716298 | DSP | c.5769C>A (p.Arg1923=) c.7098C>A (p.Arg2366=) c.5301C>A (p.Arg1767=) | |
| 6 | g.7584360C>G | CA448716301 | DSP | c.5769C>G (p.Arg1923=) c.7098C>G (p.Arg2366=) c.5301C>G (p.Arg1767=) | |
| 6 | g.7584360C>T | CA448716302 | DSP | c.5769C>T (p.Arg1923=) c.7098C>T (p.Arg2366=) c.5301C>T (p.Arg1767=) | gnomAD v4 COSMIC |
| 6 | g.7584361T>A | CA362692230 | DSP | c.5770T>A (p.Leu1924Ile) c.7099T>A (p.Leu2367Ile) c.5302T>A (p.Leu1768Ile) | |
| 6 | g.7584361T>C | CA448716303 | DSP | c.5770T>C (p.Leu1924=) c.7099T>C (p.Leu2367=) c.5302T>C (p.Leu1768=) | gnomAD v4 |
| 6 | g.7584361T>G | CA362692231 | DSP | c.5770T>G (p.Leu1924Val) c.7099T>G (p.Leu2367Val) c.5302T>G (p.Leu1768Val) | |
| 6 | g.7584362T>A | CA362692232 | DSP | c.5771T>A (p.Leu1924Ter) c.7100T>A (p.Leu2367Ter) c.5303T>A (p.Leu1768Ter) | |
| 6 | g.7584362T>C | CA362692234 | DSP | c.5771T>C (p.Leu1924Ser) c.7100T>C (p.Leu2367Ser) c.5303T>C (p.Leu1768Ser) | |
| 6 | g.7584362T>G | CA362692233 | DSP | c.5771T>G (p.Leu1924Ter) c.7100T>G (p.Leu2367Ter) c.5303T>G (p.Leu1768Ter) | |
| 6 | g.7584362_7584368delinsTATTAGA | CA1608611014 | DSP | c.5771_5777delinsTATTAGA (p.Leu1924=) c.7100_7106delinsTATTAGA (p.Leu2367=) c.5303_5309delinsTATTAGA (p.Leu1768=) | |
| 6 | g.7584363A>C | CA362692235 | DSP | c.5772A>C (p.Leu1924Phe) c.7101A>C (p.Leu2367Phe) c.5304A>C (p.Leu1768Phe) | |
| 6 | g.7584363A>G | CA448716312 | DSP | c.5772A>G (p.Leu1924=) c.7101A>G (p.Leu2367=) c.5304A>G (p.Leu1768=) | |
| 6 | g.7584363A>T | CA362692236 | DSP | c.5772A>T (p.Leu1924Phe) c.7101A>T (p.Leu2367Phe) c.5304A>T (p.Leu1768Phe) | |
| 6 | g.7584364_7584369del | CA1608611018 | DSP | c.5773_5778del (p.Leu1925_Glu1926del) c.7102_7107del (p.Leu2368_Glu2369del) c.5305_5310del (p.Leu1769_Glu1770del) | dbSNP |
| 6 | g.7584364T>A | CA362692237 | DSP | c.5773T>A (p.Leu1925Ile) c.7102T>A (p.Leu2368Ile) c.5305T>A (p.Leu1769Ile) | |
| 6 | g.7584364T>C | CA448716316 | DSP | c.5773T>C (p.Leu1925=) c.7102T>C (p.Leu2368=) c.5305T>C (p.Leu1769=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7584364T>G | CA362692238 | DSP | c.5773T>G (p.Leu1925Val) c.7102T>G (p.Leu2368Val) c.5305T>G (p.Leu1769Val) | |
| 6 | g.7584364T= | CA1608611022 | DSP | c.5773T= (p.Leu1925=) c.7102T= (p.Leu2368=) c.5305T= (p.Leu1769=) | |
| 6 | g.7584365T>A | CA362692239 | DSP | c.5774T>A (p.Leu1925Ter) c.7103T>A (p.Leu2368Ter) c.5306T>A (p.Leu1769Ter) | |
| 6 | g.7584365T>C | CA362692240 | DSP | c.5774T>C (p.Leu1925Ser) c.7103T>C (p.Leu2368Ser) c.5306T>C (p.Leu1769Ser) | COSMIC |
| 6 | g.7584365T>G | CA362692241 | DSP | c.5774T>G (p.Leu1925Ter) c.7103T>G (p.Leu2368Ter) c.5306T>G (p.Leu1769Ter) | |
| 6 | g.7584366A>C | CA362692242 | DSP | c.5775A>C (p.Leu1925Phe) c.7104A>C (p.Leu2368Phe) c.5307A>C (p.Leu1769Phe) | |
| 6 | g.7584366A>G | CA448716323 | DSP | c.5775A>G (p.Leu1925=) c.7104A>G (p.Leu2368=) c.5307A>G (p.Leu1769=) | |
| 6 | g.7584366A>T | CA362692243 | DSP | c.5775A>T (p.Leu1925Phe) c.7104A>T (p.Leu2368Phe) c.5307A>T (p.Leu1769Phe) | |
| 6 | g.7584367G>A | CA362692244 | DSP | c.5776G>A (p.Glu1926Lys) c.7105G>A (p.Glu2369Lys) c.5308G>A (p.Glu1770Lys) | ClinVar COSMIC |
| 6 | g.7584367G>C | CA362692245 | DSP | c.5776G>C (p.Glu1926Gln) c.7105G>C (p.Glu2369Gln) c.5308G>C (p.Glu1770Gln) | |
| 6 | g.7584367G>T | CA362692246 | DSP | c.5776G>T (p.Glu1926Ter) c.7105G>T (p.Glu2369Ter) c.5308G>T (p.Glu1770Ter) | |
| 6 | g.7584368A>C | CA362692247 | DSP | c.5777A>C (p.Glu1926Ala) c.7106A>C (p.Glu2369Ala) c.5309A>C (p.Glu1770Ala) | |
| 6 | g.7584368A>G | CA362692248 | DSP | c.5777A>G (p.Glu1926Gly) c.7106A>G (p.Glu2369Gly) c.5309A>G (p.Glu1770Gly) | gnomAD v4 |
| 6 | g.7584368A>T | CA362692249 | DSP | c.5777A>T (p.Glu1926Val) c.7106A>T (p.Glu2369Val) c.5309A>T (p.Glu1770Val) | |
| 6 | g.7584369A>C | CA362692250 | DSP | c.5778A>C (p.Glu1926Asp) c.7107A>C (p.Glu2369Asp) c.5310A>C (p.Glu1770Asp) | |
| 6 | g.7584369A>G | CA448716337 | DSP | c.5778A>G (p.Glu1926=) c.7107A>G (p.Glu2369=) c.5310A>G (p.Glu1770=) | |
| 6 | g.7584369A>T | CA362692251 | DSP | c.5778A>T (p.Glu1926Asp) c.7107A>T (p.Glu2369Asp) c.5310A>T (p.Glu1770Asp) |