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 |
|---|---|---|---|---|---|
| 18 | g.10705388T>A | CA401910313 | PIEZO2 | c.5683A>T (p.Ile1895Phe) c.691A>T (p.Ile231Phe) c.5947A>T (p.Ile1983Phe) c.5608A>T (p.Ile1870Phe) c.5461A>T (p.Ile1821Phe) c.5814A>T (n.5814A>T) c.5740A>T (p.Ile1914Phe) c.5650A>T (p.Ile1884Phe) c.5701A>T (p.Ile1901Phe) n.6737A>T | dbSNP gnomAD v2 |
| 18 | g.10705388T>C | CA401910314 | PIEZO2 | c.5683A>G (p.Ile1895Val) c.691A>G (p.Ile231Val) c.5947A>G (p.Ile1983Val) c.5608A>G (p.Ile1870Val) c.5461A>G (p.Ile1821Val) c.5814A>G (n.5814A>G) c.5740A>G (p.Ile1914Val) c.5650A>G (p.Ile1884Val) c.5701A>G (p.Ile1901Val) n.6737A>G | gnomAD v4 |
| 18 | g.10705388T>G | CA401910315 | PIEZO2 | c.5683A>C (p.Ile1895Leu) c.691A>C (p.Ile231Leu) c.5947A>C (p.Ile1983Leu) c.5608A>C (p.Ile1870Leu) c.5461A>C (p.Ile1821Leu) c.5814A>C (n.5814A>C) c.5740A>C (p.Ile1914Leu) c.5650A>C (p.Ile1884Leu) c.5701A>C (p.Ile1901Leu) n.6737A>C | |
| 18 | g.10705388T= | CA2284425245 | PIEZO2 | c.5683A= (p.Ile1895=) c.691A= (p.Ile231=) c.5947A= (p.Ile1983=) c.5608A= (p.Ile1870=) c.5461A= (p.Ile1821=) c.5814A= (n.5814A=) c.5740A= (p.Ile1914=) c.5650A= (p.Ile1884=) c.5701A= (p.Ile1901=) n.6737A= | |
| 18 | g.10705389G>A | CA503243196 | PIEZO2 | c.5682C>T (p.Ser1894=) c.690C>T (p.Ser230=) c.5946C>T (p.Ser1982=) c.5607C>T (p.Ser1869=) c.5460C>T (p.Ser1820=) c.5813C>T (n.5813C>T) c.5739C>T (p.Ser1913=) c.5649C>T (p.Ser1883=) c.5700C>T (p.Ser1900=) n.6736C>T | dbSNP gnomAD v2 |
| 18 | g.10705389G>C | CA401910316 | PIEZO2 | c.5682C>G (p.Ser1894Arg) c.690C>G (p.Ser230Arg) c.5946C>G (p.Ser1982Arg) c.5607C>G (p.Ser1869Arg) c.5460C>G (p.Ser1820Arg) c.5813C>G (n.5813C>G) c.5739C>G (p.Ser1913Arg) c.5649C>G (p.Ser1883Arg) c.5700C>G (p.Ser1900Arg) n.6736C>G | |
| 18 | g.10705389G= | CA2284425246 | PIEZO2 | c.5682C= (p.Ser1894=) c.690C= (p.Ser230=) c.5946C= (p.Ser1982=) c.5607C= (p.Ser1869=) c.5460C= (p.Ser1820=) c.5813C= (n.5813C=) c.5739C= (p.Ser1913=) c.5649C= (p.Ser1883=) c.5700C= (p.Ser1900=) n.6736C= | |
| 18 | g.10705389G>T | CA401910317 | PIEZO2 | c.5682C>A (p.Ser1894Arg) c.690C>A (p.Ser230Arg) c.5946C>A (p.Ser1982Arg) c.5607C>A (p.Ser1869Arg) c.5460C>A (p.Ser1820Arg) c.5813C>A (n.5813C>A) c.5739C>A (p.Ser1913Arg) c.5649C>A (p.Ser1883Arg) c.5700C>A (p.Ser1900Arg) n.6736C>A | |
| 18 | g.10705390C>A | CA401910318 | PIEZO2 | c.5681G>T (p.Ser1894Ile) c.689G>T (p.Ser230Ile) c.5945G>T (p.Ser1982Ile) c.5606G>T (p.Ser1869Ile) c.5459G>T (p.Ser1820Ile) c.5812G>T (n.5812G>T) c.5738G>T (p.Ser1913Ile) c.5648G>T (p.Ser1883Ile) c.5699G>T (p.Ser1900Ile) n.6735G>T | |
| 18 | g.10705390C>G | CA401910319 | PIEZO2 | c.5681G>C (p.Ser1894Thr) c.689G>C (p.Ser230Thr) c.5945G>C (p.Ser1982Thr) c.5606G>C (p.Ser1869Thr) c.5459G>C (p.Ser1820Thr) c.5812G>C (n.5812G>C) c.5738G>C (p.Ser1913Thr) c.5648G>C (p.Ser1883Thr) c.5699G>C (p.Ser1900Thr) n.6735G>C | gnomAD v4 |
| 18 | g.10705390C>T | CA401910320 | PIEZO2 | c.5681G>A (p.Ser1894Asn) c.689G>A (p.Ser230Asn) c.5945G>A (p.Ser1982Asn) c.5606G>A (p.Ser1869Asn) c.5459G>A (p.Ser1820Asn) c.5812G>A (n.5812G>A) c.5738G>A (p.Ser1913Asn) c.5648G>A (p.Ser1883Asn) c.5699G>A (p.Ser1900Asn) n.6735G>A | gnomAD v4 |
| 18 | g.10705391T>A | CA401910321 | PIEZO2 | c.5680A>T (p.Ser1894Cys) c.688A>T (p.Ser230Cys) c.5944A>T (p.Ser1982Cys) c.5605A>T (p.Ser1869Cys) c.5458A>T (p.Ser1820Cys) c.5811A>T (n.5811A>T) c.5737A>T (p.Ser1913Cys) c.5647A>T (p.Ser1883Cys) c.5698A>T (p.Ser1900Cys) n.6734A>T | |
| 18 | g.10705391T>C | CA401910322 | PIEZO2 | c.5680A>G (p.Ser1894Gly) c.688A>G (p.Ser230Gly) c.5944A>G (p.Ser1982Gly) c.5605A>G (p.Ser1869Gly) c.5458A>G (p.Ser1820Gly) c.5811A>G (n.5811A>G) c.5737A>G (p.Ser1913Gly) c.5647A>G (p.Ser1883Gly) c.5698A>G (p.Ser1900Gly) n.6734A>G | |
| 18 | g.10705391T>G | CA401910323 | PIEZO2 | c.5680A>C (p.Ser1894Arg) c.688A>C (p.Ser230Arg) c.5944A>C (p.Ser1982Arg) c.5605A>C (p.Ser1869Arg) c.5458A>C (p.Ser1820Arg) c.5811A>C (n.5811A>C) c.5737A>C (p.Ser1913Arg) c.5647A>C (p.Ser1883Arg) c.5698A>C (p.Ser1900Arg) n.6734A>C | gnomAD v4 |
| 18 | g.10705392G>A | CA503243200 | PIEZO2 | c.5679C>T (p.Ser1893=) c.687C>T (p.Ser229=) c.5943C>T (p.Ser1981=) c.5604C>T (p.Ser1868=) c.5457C>T (p.Ser1819=) c.5810C>T (n.5810C>T) c.5736C>T (p.Ser1912=) c.5646C>T (p.Ser1882=) c.5697C>T (p.Ser1899=) n.6733C>T | |
| 18 | g.10705392G>C | CA503243201 | PIEZO2 | c.5679C>G (p.Ser1893=) c.687C>G (p.Ser229=) c.5943C>G (p.Ser1981=) c.5604C>G (p.Ser1868=) c.5457C>G (p.Ser1819=) c.5810C>G (n.5810C>G) c.5736C>G (p.Ser1912=) c.5646C>G (p.Ser1882=) c.5697C>G (p.Ser1899=) n.6733C>G | |
| 18 | g.10705392G>T | CA503243202 | PIEZO2 | c.5679C>A (p.Ser1893=) c.687C>A (p.Ser229=) c.5943C>A (p.Ser1981=) c.5604C>A (p.Ser1868=) c.5457C>A (p.Ser1819=) c.5810C>A (n.5810C>A) c.5736C>A (p.Ser1912=) c.5646C>A (p.Ser1882=) c.5697C>A (p.Ser1899=) n.6733C>A | |
| 18 | g.10705393G>A | CA401910326 | PIEZO2 | c.5678C>T (p.Ser1893Phe) c.686C>T (p.Ser229Phe) c.5942C>T (p.Ser1981Phe) c.5603C>T (p.Ser1868Phe) c.5456C>T (p.Ser1819Phe) c.5809C>T (n.5809C>T) c.5735C>T (p.Ser1912Phe) c.5645C>T (p.Ser1882Phe) c.5696C>T (p.Ser1899Phe) n.6732C>T | gnomAD v4 |
| 18 | g.10705393G>C | CA401910325 | PIEZO2 | c.5678C>G (p.Ser1893Cys) c.686C>G (p.Ser229Cys) c.5942C>G (p.Ser1981Cys) c.5603C>G (p.Ser1868Cys) c.5456C>G (p.Ser1819Cys) c.5809C>G (n.5809C>G) c.5735C>G (p.Ser1912Cys) c.5645C>G (p.Ser1882Cys) c.5696C>G (p.Ser1899Cys) n.6732C>G | |
| 18 | g.10705393G>T | CA401910324 | PIEZO2 | c.5678C>A (p.Ser1893Tyr) c.686C>A (p.Ser229Tyr) c.5942C>A (p.Ser1981Tyr) c.5603C>A (p.Ser1868Tyr) c.5456C>A (p.Ser1819Tyr) c.5809C>A (n.5809C>A) c.5735C>A (p.Ser1912Tyr) c.5645C>A (p.Ser1882Tyr) c.5696C>A (p.Ser1899Tyr) n.6732C>A | |
| 18 | g.10705394A>C | CA401910327 | PIEZO2 | c.5677T>G (p.Ser1893Ala) c.685T>G (p.Ser229Ala) c.5941T>G (p.Ser1981Ala) c.5602T>G (p.Ser1868Ala) c.5455T>G (p.Ser1819Ala) c.5808T>G (n.5808T>G) c.5734T>G (p.Ser1912Ala) c.5644T>G (p.Ser1882Ala) c.5695T>G (p.Ser1899Ala) n.6731T>G | |
| 18 | g.10705394A>G | CA401910328 | PIEZO2 | c.5677T>C (p.Ser1893Pro) c.685T>C (p.Ser229Pro) c.5941T>C (p.Ser1981Pro) c.5602T>C (p.Ser1868Pro) c.5455T>C (p.Ser1819Pro) c.5808T>C (n.5808T>C) c.5734T>C (p.Ser1912Pro) c.5644T>C (p.Ser1882Pro) c.5695T>C (p.Ser1899Pro) n.6731T>C | |
| 18 | g.10705394A>T | CA401910329 | PIEZO2 | c.5677T>A (p.Ser1893Thr) c.685T>A (p.Ser229Thr) c.5941T>A (p.Ser1981Thr) c.5602T>A (p.Ser1868Thr) c.5455T>A (p.Ser1819Thr) c.5808T>A (n.5808T>A) c.5734T>A (p.Ser1912Thr) c.5644T>A (p.Ser1882Thr) c.5695T>A (p.Ser1899Thr) n.6731T>A | |
| 18 | g.10705395C>A | CA503243204 | PIEZO2 | c.5676G>T (p.Gly1892=) c.684G>T (p.Gly228=) c.5940G>T (p.Gly1980=) c.5601G>T (p.Gly1867=) c.5454G>T (p.Gly1818=) c.5807G>T (n.5807G>T) c.5733G>T (p.Gly1911=) c.5643G>T (p.Gly1881=) c.5694G>T (p.Gly1898=) n.6730G>T | gnomAD v4 |
| 18 | g.10705395C= | CA2284425247 | PIEZO2 | c.5676G= (p.Gly1892=) c.684G= (p.Gly228=) c.5940G= (p.Gly1980=) c.5601G= (p.Gly1867=) c.5454G= (p.Gly1818=) c.5807G= (n.5807G=) c.5733G= (p.Gly1911=) c.5643G= (p.Gly1881=) c.5694G= (p.Gly1898=) n.6730G= | |
| 18 | g.10705395C>G | CA503243203 | PIEZO2 | c.5676G>C (p.Gly1892=) c.684G>C (p.Gly228=) c.5940G>C (p.Gly1980=) c.5601G>C (p.Gly1867=) c.5454G>C (p.Gly1818=) c.5807G>C (n.5807G>C) c.5733G>C (p.Gly1911=) c.5643G>C (p.Gly1881=) c.5694G>C (p.Gly1898=) n.6730G>C | |
| 18 | g.10705395C>T | CA8892291 | PIEZO2 | c.5676G>A (p.Gly1892=) c.684G>A (p.Gly228=) c.5940G>A (p.Gly1980=) c.5601G>A (p.Gly1867=) c.5454G>A (p.Gly1818=) c.5807G>A (n.5807G>A) c.5733G>A (p.Gly1911=) c.5643G>A (p.Gly1881=) c.5694G>A (p.Gly1898=) n.6730G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.10705397_10705398del | CA2810960013 | PIEZO2 | c.5675_5676del (p.Gly1892ValfsTer10) c.683_684del (p.Gly228ValfsTer10) c.5939_5940del (p.Gly1980ValfsTer10) c.5600_5601del (p.Gly1867ValfsTer10) c.5453_5454del (p.Gly1818ValfsTer10) c.5806_5807del (n.5806_5807del) c.5732_5733del (p.Gly1911ValfsTer10) c.5642_5643del (p.Gly1881ValfsTer10) c.5693_5694del (p.Gly1898ValfsTer10) n.6729_6730del | |
| 18 | g.10705396C>A | CA401910330 | PIEZO2 | c.5675G>T (p.Gly1892Val) c.683G>T (p.Gly228Val) c.5939G>T (p.Gly1980Val) c.5600G>T (p.Gly1867Val) c.5453G>T (p.Gly1818Val) c.5806G>T (n.5806G>T) c.5732G>T (p.Gly1911Val) c.5642G>T (p.Gly1881Val) c.5693G>T (p.Gly1898Val) n.6729G>T | |
| 18 | g.10705396C= | CA2284425248 | PIEZO2 | c.5675G= (p.Gly1892=) c.683G= (p.Gly228=) c.5939G= (p.Gly1980=) c.5600G= (p.Gly1867=) c.5453G= (p.Gly1818=) c.5806G= (n.5806G=) c.5732G= (p.Gly1911=) c.5642G= (p.Gly1881=) c.5693G= (p.Gly1898=) n.6729G= | |
| 18 | g.10705396C>G | CA401910331 | PIEZO2 | c.5675G>C (p.Gly1892Ala) c.683G>C (p.Gly228Ala) c.5939G>C (p.Gly1980Ala) c.5600G>C (p.Gly1867Ala) c.5453G>C (p.Gly1818Ala) c.5806G>C (n.5806G>C) c.5732G>C (p.Gly1911Ala) c.5642G>C (p.Gly1881Ala) c.5693G>C (p.Gly1898Ala) n.6729G>C | dbSNP gnomAD v4 |
| 18 | g.10705396C>T | CA8892292 | PIEZO2 | c.5675G>A (p.Gly1892Glu) c.683G>A (p.Gly228Glu) c.5939G>A (p.Gly1980Glu) c.5600G>A (p.Gly1867Glu) c.5453G>A (p.Gly1818Glu) c.5806G>A (n.5806G>A) c.5732G>A (p.Gly1911Glu) c.5642G>A (p.Gly1881Glu) c.5693G>A (p.Gly1898Glu) n.6729G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.10705397C>A | CA401910332 | PIEZO2 | c.5674G>T (p.Gly1892Trp) c.682G>T (p.Gly228Trp) c.5938G>T (p.Gly1980Trp) c.5599G>T (p.Gly1867Trp) c.5452G>T (p.Gly1818Trp) c.5805G>T (n.5805G>T) c.5731G>T (p.Gly1911Trp) c.5641G>T (p.Gly1881Trp) c.5692G>T (p.Gly1898Trp) n.6728G>T | |
| 18 | g.10705397C>G | CA401910333 | PIEZO2 | c.5674G>C (p.Gly1892Arg) c.682G>C (p.Gly228Arg) c.5938G>C (p.Gly1980Arg) c.5599G>C (p.Gly1867Arg) c.5452G>C (p.Gly1818Arg) c.5805G>C (n.5805G>C) c.5731G>C (p.Gly1911Arg) c.5641G>C (p.Gly1881Arg) c.5692G>C (p.Gly1898Arg) n.6728G>C | |
| 18 | g.10705397C>T | CA401910334 | PIEZO2 | c.5674G>A (p.Gly1892Arg) c.682G>A (p.Gly228Arg) c.5938G>A (p.Gly1980Arg) c.5599G>A (p.Gly1867Arg) c.5452G>A (p.Gly1818Arg) c.5805G>A (n.5805G>A) c.5731G>A (p.Gly1911Arg) c.5641G>A (p.Gly1881Arg) c.5692G>A (p.Gly1898Arg) n.6728G>A | |
| 18 | g.10705398C>A | CA503243209 | PIEZO2 | c.5673G>T (p.Leu1891=) c.681G>T (p.Leu227=) c.5937G>T (p.Leu1979=) c.5598G>T (p.Leu1866=) c.5451G>T (p.Leu1817=) c.5804G>T (n.5804G>T) c.5730G>T (p.Leu1910=) c.5640G>T (p.Leu1880=) c.5691G>T (p.Leu1897=) n.6727G>T | |
| 18 | g.10705398C>G | CA503243208 | PIEZO2 | c.5673G>C (p.Leu1891=) c.681G>C (p.Leu227=) c.5937G>C (p.Leu1979=) c.5598G>C (p.Leu1866=) c.5451G>C (p.Leu1817=) c.5804G>C (n.5804G>C) c.5730G>C (p.Leu1910=) c.5640G>C (p.Leu1880=) c.5691G>C (p.Leu1897=) n.6727G>C | |
| 18 | g.10705398C>T | CA503243207 | PIEZO2 | c.5673G>A (p.Leu1891=) c.681G>A (p.Leu227=) c.5937G>A (p.Leu1979=) c.5598G>A (p.Leu1866=) c.5451G>A (p.Leu1817=) c.5804G>A (n.5804G>A) c.5730G>A (p.Leu1910=) c.5640G>A (p.Leu1880=) c.5691G>A (p.Leu1897=) n.6727G>A | |
| 18 | g.10705399A= | CA2284425249 | PIEZO2 | c.5672T= (p.Leu1891=) c.680T= (p.Leu227=) c.5936T= (p.Leu1979=) c.5597T= (p.Leu1866=) c.5450T= (p.Leu1817=) c.5803T= (n.5803T=) c.5729T= (p.Leu1910=) c.5639T= (p.Leu1880=) c.5690T= (p.Leu1897=) n.6726T= | |
| 18 | g.10705399A>C | CA401910335 | PIEZO2 | c.5672T>G (p.Leu1891Arg) c.680T>G (p.Leu227Arg) c.5936T>G (p.Leu1979Arg) c.5597T>G (p.Leu1866Arg) c.5450T>G (p.Leu1817Arg) c.5803T>G (n.5803T>G) c.5729T>G (p.Leu1910Arg) c.5639T>G (p.Leu1880Arg) c.5690T>G (p.Leu1897Arg) n.6726T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.10705399A>G | CA401910336 | PIEZO2 | c.5672T>C (p.Leu1891Pro) c.680T>C (p.Leu227Pro) c.5936T>C (p.Leu1979Pro) c.5597T>C (p.Leu1866Pro) c.5450T>C (p.Leu1817Pro) c.5803T>C (n.5803T>C) c.5729T>C (p.Leu1910Pro) c.5639T>C (p.Leu1880Pro) c.5690T>C (p.Leu1897Pro) n.6726T>C | |
| 18 | g.10705399A>T | CA401910337 | PIEZO2 | c.5672T>A (p.Leu1891Gln) c.680T>A (p.Leu227Gln) c.5936T>A (p.Leu1979Gln) c.5597T>A (p.Leu1866Gln) c.5450T>A (p.Leu1817Gln) c.5803T>A (n.5803T>A) c.5729T>A (p.Leu1910Gln) c.5639T>A (p.Leu1880Gln) c.5690T>A (p.Leu1897Gln) n.6726T>A | |
| 18 | g.10705400G>A | CA503243211 | PIEZO2 | c.5671C>T (p.Leu1891=) c.679C>T (p.Leu227=) c.5935C>T (p.Leu1979=) c.5596C>T (p.Leu1866=) c.5449C>T (p.Leu1817=) c.5802C>T (n.5802C>T) c.5728C>T (p.Leu1910=) c.5638C>T (p.Leu1880=) c.5689C>T (p.Leu1897=) n.6725C>T | gnomAD v4 |
| 18 | g.10705400G>C | CA401910338 | PIEZO2 | c.5671C>G (p.Leu1891Val) c.679C>G (p.Leu227Val) c.5935C>G (p.Leu1979Val) c.5596C>G (p.Leu1866Val) c.5449C>G (p.Leu1817Val) c.5802C>G (n.5802C>G) c.5728C>G (p.Leu1910Val) c.5638C>G (p.Leu1880Val) c.5689C>G (p.Leu1897Val) n.6725C>G | |
| 18 | g.10705400G>T | CA401910339 | PIEZO2 | c.5671C>A (p.Leu1891Met) c.679C>A (p.Leu227Met) c.5935C>A (p.Leu1979Met) c.5596C>A (p.Leu1866Met) c.5449C>A (p.Leu1817Met) c.5802C>A (n.5802C>A) c.5728C>A (p.Leu1910Met) c.5638C>A (p.Leu1880Met) c.5689C>A (p.Leu1897Met) n.6725C>A | |
| 18 | g.10705401C>A | CA401910340 | PIEZO2 | c.5670G>T (p.Lys1890Asn) c.678G>T (p.Lys226Asn) c.5934G>T (p.Lys1978Asn) c.5595G>T (p.Lys1865Asn) c.5448G>T (p.Lys1816Asn) c.5801G>T (n.5801G>T) c.5727G>T (p.Lys1909Asn) c.5637G>T (p.Lys1879Asn) c.5688G>T (p.Lys1896Asn) n.6724G>T | COSMIC |
| 18 | g.10705401C= | CA2284425250 | PIEZO2 | c.5670G= (p.Lys1890=) c.678G= (p.Lys226=) c.5934G= (p.Lys1978=) c.5595G= (p.Lys1865=) c.5448G= (p.Lys1816=) c.5801G= (n.5801G=) c.5727G= (p.Lys1909=) c.5637G= (p.Lys1879=) c.5688G= (p.Lys1896=) n.6724G= | |
| 18 | g.10705401C>G | CA401910341 | PIEZO2 | c.5670G>C (p.Lys1890Asn) c.678G>C (p.Lys226Asn) c.5934G>C (p.Lys1978Asn) c.5595G>C (p.Lys1865Asn) c.5448G>C (p.Lys1816Asn) c.5801G>C (n.5801G>C) c.5727G>C (p.Lys1909Asn) c.5637G>C (p.Lys1879Asn) c.5688G>C (p.Lys1896Asn) n.6724G>C | |
| 18 | g.10705401C>T | CA503243213 | PIEZO2 | c.5670G>A (p.Lys1890=) c.678G>A (p.Lys226=) c.5934G>A (p.Lys1978=) c.5595G>A (p.Lys1865=) c.5448G>A (p.Lys1816=) c.5801G>A (n.5801G>A) c.5727G>A (p.Lys1909=) c.5637G>A (p.Lys1879=) c.5688G>A (p.Lys1896=) n.6724G>A | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.10705402T>A | CA401910342 | PIEZO2 | c.5669A>T (p.Lys1890Met) c.677A>T (p.Lys226Met) c.5933A>T (p.Lys1978Met) c.5594A>T (p.Lys1865Met) c.5447A>T (p.Lys1816Met) c.5800A>T (n.5800A>T) c.5726A>T (p.Lys1909Met) c.5636A>T (p.Lys1879Met) c.5687A>T (p.Lys1896Met) n.6723A>T |