Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.128617607_128617684dup | CA2603154228 | SPTAN1 | c.5394-33_5438dup c.5358-33_5402dup c.4821-33_4865dup c.2981-33_3025dup c.968-33_1012dup n.586-33_630dup c.5283-33_5327dup c.5343-33_5387dup c.5298-33_5342dup c.5379-33_5423dup c.5334-33_5378dup c.5319-33_5363dup | gnomAD v3 gnomAD v4 |
9 | g.128617647_128617649del | CA913142347 | SPTAN1 | c.5401_5403del (p.Lys1801del) c.5365_5367del (p.Lys1789del) c.4828_4830del (p.Lys1610del) c.2988_2990del c.975_977del n.593_595del c.5290_5292del (p.Lys1764del) c.5350_5352del (p.Lys1784del) c.5305_5307del (p.Lys1769del) c.5386_5388del (p.Lys1796del) c.5341_5343del (p.Lys1781del) c.5326_5328del (p.Lys1776del) | gnomAD v4 |
9 | g.128617647A= | CA1880364170 | SPTAN1 | c.5401A= (p.Lys1801=) c.5365A= (p.Lys1789=) c.4828A= (p.Lys1610=) c.2988A= c.975A= n.593A= c.5290A= (p.Lys1764=) c.5350A= (p.Lys1784=) c.5305A= (p.Lys1769=) c.5386A= (p.Lys1796=) c.5341A= (p.Lys1781=) c.5326A= (p.Lys1776=) | |
9 | g.128617647A>C | CA200401592 | SPTAN1 | c.5401A>C (p.Lys1801Gln) c.5365A>C (p.Lys1789Gln) c.4828A>C (p.Lys1610Gln) c.2988A>C c.975A>C n.593A>C c.5290A>C (p.Lys1764Gln) c.5350A>C (p.Lys1784Gln) c.5305A>C (p.Lys1769Gln) c.5386A>C (p.Lys1796Gln) c.5341A>C (p.Lys1781Gln) c.5326A>C (p.Lys1776Gln) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.128617647A>G | CA375075729 | SPTAN1 | c.5401A>G (p.Lys1801Glu) c.5365A>G (p.Lys1789Glu) c.4828A>G (p.Lys1610Glu) c.2988A>G c.975A>G n.593A>G c.5290A>G (p.Lys1764Glu) c.5350A>G (p.Lys1784Glu) c.5305A>G (p.Lys1769Glu) c.5386A>G (p.Lys1796Glu) c.5341A>G (p.Lys1781Glu) c.5326A>G (p.Lys1776Glu) | |
9 | g.128617647A>T | CA375075730 | SPTAN1 | c.5401A>T (p.Lys1801Ter) c.5365A>T (p.Lys1789Ter) c.4828A>T (p.Lys1610Ter) c.2988A>T c.975A>T n.593A>T c.5290A>T (p.Lys1764Ter) c.5350A>T (p.Lys1784Ter) c.5305A>T (p.Lys1769Ter) c.5386A>T (p.Lys1796Ter) c.5341A>T (p.Lys1781Ter) c.5326A>T (p.Lys1776Ter) | |
9 | g.128617648A= | CA1880364171 | SPTAN1 | c.5402A= (p.Lys1801=) c.5366A= (p.Lys1789=) c.4829A= (p.Lys1610=) c.2989A= c.976A= n.594A= c.5291A= (p.Lys1764=) c.5351A= (p.Lys1784=) c.5306A= (p.Lys1769=) c.5387A= (p.Lys1796=) c.5342A= (p.Lys1781=) c.5327A= (p.Lys1776=) | |
9 | g.128617648A>C | CA375075740 | SPTAN1 | c.5402A>C (p.Lys1801Thr) c.5366A>C (p.Lys1789Thr) c.4829A>C (p.Lys1610Thr) c.2989A>C c.976A>C n.594A>C c.5291A>C (p.Lys1764Thr) c.5351A>C (p.Lys1784Thr) c.5306A>C (p.Lys1769Thr) c.5387A>C (p.Lys1796Thr) c.5342A>C (p.Lys1781Thr) c.5327A>C (p.Lys1776Thr) | |
9 | g.128617648A>G | CA375075738 | SPTAN1 | c.5402A>G (p.Lys1801Arg) c.5366A>G (p.Lys1789Arg) c.4829A>G (p.Lys1610Arg) c.2989A>G c.976A>G n.594A>G c.5291A>G (p.Lys1764Arg) c.5351A>G (p.Lys1784Arg) c.5306A>G (p.Lys1769Arg) c.5387A>G (p.Lys1796Arg) c.5342A>G (p.Lys1781Arg) c.5327A>G (p.Lys1776Arg) | |
9 | g.128617648A>T | CA200401595 | SPTAN1 | c.5402A>T (p.Lys1801Met) c.5366A>T (p.Lys1789Met) c.4829A>T (p.Lys1610Met) c.2989A>T c.976A>T n.594A>T c.5291A>T (p.Lys1764Met) c.5351A>T (p.Lys1784Met) c.5306A>T (p.Lys1769Met) c.5387A>T (p.Lys1796Met) c.5342A>T (p.Lys1781Met) c.5327A>T (p.Lys1776Met) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.128617649G>A | CA467303725 | SPTAN1 | c.5403G>A (p.Lys1801=) c.5367G>A (p.Lys1789=) c.4830G>A (p.Lys1610=) c.2990G>A c.977G>A n.595G>A c.5292G>A (p.Lys1764=) c.5352G>A (p.Lys1784=) c.5307G>A (p.Lys1769=) c.5388G>A (p.Lys1796=) c.5343G>A (p.Lys1781=) c.5328G>A (p.Lys1776=) | gnomAD v4 |
9 | g.128617649G>C | CA375075743 | SPTAN1 | c.5403G>C (p.Lys1801Asn) c.5367G>C (p.Lys1789Asn) c.4830G>C (p.Lys1610Asn) c.2990G>C c.977G>C n.595G>C c.5292G>C (p.Lys1764Asn) c.5352G>C (p.Lys1784Asn) c.5307G>C (p.Lys1769Asn) c.5388G>C (p.Lys1796Asn) c.5343G>C (p.Lys1781Asn) c.5328G>C (p.Lys1776Asn) | |
9 | g.128617649G>T | CA375075745 | SPTAN1 | c.5403G>T (p.Lys1801Asn) c.5367G>T (p.Lys1789Asn) c.4830G>T (p.Lys1610Asn) c.2990G>T c.977G>T n.595G>T c.5292G>T (p.Lys1764Asn) c.5352G>T (p.Lys1784Asn) c.5307G>T (p.Lys1769Asn) c.5388G>T (p.Lys1796Asn) c.5343G>T (p.Lys1781Asn) c.5328G>T (p.Lys1776Asn) | |
9 | g.128617650C>A | CA375075747 | SPTAN1 | c.5404C>A (p.Leu1802Met) c.5368C>A (p.Leu1790Met) c.4831C>A (p.Leu1611Met) c.2991C>A c.978C>A n.596C>A c.5293C>A (p.Leu1765Met) c.5353C>A (p.Leu1785Met) c.5308C>A (p.Leu1770Met) c.5389C>A (p.Leu1797Met) c.5344C>A (p.Leu1782Met) c.5329C>A (p.Leu1777Met) | |
9 | g.128617650C= | CA1880364172 | SPTAN1 | c.5404C= (p.Leu1802=) c.5368C= (p.Leu1790=) c.4831C= (p.Leu1611=) c.2991C= c.978C= n.596C= c.5293C= (p.Leu1765=) c.5353C= (p.Leu1785=) c.5308C= (p.Leu1770=) c.5389C= (p.Leu1797=) c.5344C= (p.Leu1782=) c.5329C= (p.Leu1777=) | |
9 | g.128617650C>G | CA375075751 | SPTAN1 | c.5404C>G (p.Leu1802Val) c.5368C>G (p.Leu1790Val) c.4831C>G (p.Leu1611Val) c.2991C>G c.978C>G n.596C>G c.5293C>G (p.Leu1765Val) c.5353C>G (p.Leu1785Val) c.5308C>G (p.Leu1770Val) c.5389C>G (p.Leu1797Val) c.5344C>G (p.Leu1782Val) c.5329C>G (p.Leu1777Val) | |
9 | g.128617650C>T | CA467303727 | SPTAN1 | c.5404C>T (p.Leu1802=) c.5368C>T (p.Leu1790=) c.4831C>T (p.Leu1611=) c.2991C>T c.978C>T n.596C>T c.5293C>T (p.Leu1765=) c.5353C>T (p.Leu1785=) c.5308C>T (p.Leu1770=) c.5389C>T (p.Leu1797=) c.5344C>T (p.Leu1782=) c.5329C>T (p.Leu1777=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.128617651T>A | CA375075753 | SPTAN1 | c.5405T>A (p.Leu1802Gln) c.5369T>A (p.Leu1790Gln) c.4832T>A (p.Leu1611Gln) c.2992T>A c.979T>A n.597T>A c.5294T>A (p.Leu1765Gln) c.5354T>A (p.Leu1785Gln) c.5309T>A (p.Leu1770Gln) c.5390T>A (p.Leu1797Gln) c.5345T>A (p.Leu1782Gln) c.5330T>A (p.Leu1777Gln) | |
9 | g.128617651T>C | CA375075756 | SPTAN1 | c.5405T>C (p.Leu1802Pro) c.5369T>C (p.Leu1790Pro) c.4832T>C (p.Leu1611Pro) c.2992T>C c.979T>C n.597T>C c.5294T>C (p.Leu1765Pro) c.5354T>C (p.Leu1785Pro) c.5309T>C (p.Leu1770Pro) c.5390T>C (p.Leu1797Pro) c.5345T>C (p.Leu1782Pro) c.5330T>C (p.Leu1777Pro) | |
9 | g.128617651T>G | CA375075759 | SPTAN1 | c.5405T>G (p.Leu1802Arg) c.5369T>G (p.Leu1790Arg) c.4832T>G (p.Leu1611Arg) c.2992T>G c.979T>G n.597T>G c.5294T>G (p.Leu1765Arg) c.5354T>G (p.Leu1785Arg) c.5309T>G (p.Leu1770Arg) c.5390T>G (p.Leu1797Arg) c.5345T>G (p.Leu1782Arg) c.5330T>G (p.Leu1777Arg) | |
9 | g.128617652G>A | CA467303732 | SPTAN1 | c.5406G>A (p.Leu1802=) c.5370G>A (p.Leu1790=) c.4833G>A (p.Leu1611=) c.2993G>A c.980G>A n.598G>A c.5295G>A (p.Leu1765=) c.5355G>A (p.Leu1785=) c.5310G>A (p.Leu1770=) c.5391G>A (p.Leu1797=) c.5346G>A (p.Leu1782=) c.5331G>A (p.Leu1777=) | |
9 | g.128617652G>C | CA467303731 | SPTAN1 | c.5406G>C (p.Leu1802=) c.5370G>C (p.Leu1790=) c.4833G>C (p.Leu1611=) c.2993G>C c.980G>C n.598G>C c.5295G>C (p.Leu1765=) c.5355G>C (p.Leu1785=) c.5310G>C (p.Leu1770=) c.5391G>C (p.Leu1797=) c.5346G>C (p.Leu1782=) c.5331G>C (p.Leu1777=) | |
9 | g.128617652G>T | CA467303730 | SPTAN1 | c.5406G>T (p.Leu1802=) c.5370G>T (p.Leu1790=) c.4833G>T (p.Leu1611=) c.2993G>T c.980G>T n.598G>T c.5295G>T (p.Leu1765=) c.5355G>T (p.Leu1785=) c.5310G>T (p.Leu1770=) c.5391G>T (p.Leu1797=) c.5346G>T (p.Leu1782=) c.5331G>T (p.Leu1777=) | |
9 | g.128617653C>A | CA375075762 | SPTAN1 | c.5407C>A (p.Leu1803Met) c.5371C>A (p.Leu1791Met) c.4834C>A (p.Leu1612Met) c.2994C>A c.981C>A n.599C>A c.5296C>A (p.Leu1766Met) c.5356C>A (p.Leu1786Met) c.5311C>A (p.Leu1771Met) c.5392C>A (p.Leu1798Met) c.5347C>A (p.Leu1783Met) c.5332C>A (p.Leu1778Met) | |
9 | g.128617653C>G | CA375075764 | SPTAN1 | c.5407C>G (p.Leu1803Val) c.5371C>G (p.Leu1791Val) c.4834C>G (p.Leu1612Val) c.2994C>G c.981C>G n.599C>G c.5296C>G (p.Leu1766Val) c.5356C>G (p.Leu1786Val) c.5311C>G (p.Leu1771Val) c.5392C>G (p.Leu1798Val) c.5347C>G (p.Leu1783Val) c.5332C>G (p.Leu1778Val) | |
9 | g.128617653C>T | CA467303735 | SPTAN1 | c.5407C>T (p.Leu1803=) c.5371C>T (p.Leu1791=) c.4834C>T (p.Leu1612=) c.2994C>T c.981C>T n.599C>T c.5296C>T (p.Leu1766=) c.5356C>T (p.Leu1786=) c.5311C>T (p.Leu1771=) c.5392C>T (p.Leu1798=) c.5347C>T (p.Leu1783=) c.5332C>T (p.Leu1778=) | gnomAD v4 |
9 | g.128617654T>A | CA375075767 | SPTAN1 | c.5408T>A (p.Leu1803Gln) c.5372T>A (p.Leu1791Gln) c.4835T>A (p.Leu1612Gln) c.2995T>A c.982T>A n.600T>A c.5297T>A (p.Leu1766Gln) c.5357T>A (p.Leu1786Gln) c.5312T>A (p.Leu1771Gln) c.5393T>A (p.Leu1798Gln) c.5348T>A (p.Leu1783Gln) c.5333T>A (p.Leu1778Gln) | |
9 | g.128617654T>C | CA375075771 | SPTAN1 | c.5408T>C (p.Leu1803Pro) c.5372T>C (p.Leu1791Pro) c.4835T>C (p.Leu1612Pro) c.2995T>C c.982T>C n.600T>C c.5297T>C (p.Leu1766Pro) c.5357T>C (p.Leu1786Pro) c.5312T>C (p.Leu1771Pro) c.5393T>C (p.Leu1798Pro) c.5348T>C (p.Leu1783Pro) c.5333T>C (p.Leu1778Pro) | |
9 | g.128617654T>G | CA375075776 | SPTAN1 | c.5408T>G (p.Leu1803Arg) c.5372T>G (p.Leu1791Arg) c.4835T>G (p.Leu1612Arg) c.2995T>G c.982T>G n.600T>G c.5297T>G (p.Leu1766Arg) c.5357T>G (p.Leu1786Arg) c.5312T>G (p.Leu1771Arg) c.5393T>G (p.Leu1798Arg) c.5348T>G (p.Leu1783Arg) c.5333T>G (p.Leu1778Arg) | |
9 | g.128617655G>A | CA467303737 | SPTAN1 | c.5409G>A (p.Leu1803=) c.5373G>A (p.Leu1791=) c.4836G>A (p.Leu1612=) c.2996G>A c.983G>A n.601G>A c.5298G>A (p.Leu1766=) c.5358G>A (p.Leu1786=) c.5313G>A (p.Leu1771=) c.5394G>A (p.Leu1798=) c.5349G>A (p.Leu1783=) c.5334G>A (p.Leu1778=) | |
9 | g.128617655G>C | CA467303738 | SPTAN1 | c.5409G>C (p.Leu1803=) c.5373G>C (p.Leu1791=) c.4836G>C (p.Leu1612=) c.2996G>C c.983G>C n.601G>C c.5298G>C (p.Leu1766=) c.5358G>C (p.Leu1786=) c.5313G>C (p.Leu1771=) c.5394G>C (p.Leu1798=) c.5349G>C (p.Leu1783=) c.5334G>C (p.Leu1778=) | |
9 | g.128617655G>T | CA467303739 | SPTAN1 | c.5409G>T (p.Leu1803=) c.5373G>T (p.Leu1791=) c.4836G>T (p.Leu1612=) c.2996G>T c.983G>T n.601G>T c.5298G>T (p.Leu1766=) c.5358G>T (p.Leu1786=) c.5313G>T (p.Leu1771=) c.5394G>T (p.Leu1798=) c.5349G>T (p.Leu1783=) c.5334G>T (p.Leu1778=) | ClinVar |
9 | g.128617656G>A | CA375075783 | SPTAN1 | c.5410G>A (p.Val1804Met) c.5374G>A (p.Val1792Met) c.4837G>A (p.Val1613Met) c.2997G>A c.984G>A n.602G>A c.5299G>A (p.Val1767Met) c.5359G>A (p.Val1787Met) c.5314G>A (p.Val1772Met) c.5395G>A (p.Val1799Met) c.5350G>A (p.Val1784Met) c.5335G>A (p.Val1779Met) | |
9 | g.128617656G>C | CA375075782 | SPTAN1 | c.5410G>C (p.Val1804Leu) c.5374G>C (p.Val1792Leu) c.4837G>C (p.Val1613Leu) c.2997G>C c.984G>C n.602G>C c.5299G>C (p.Val1767Leu) c.5359G>C (p.Val1787Leu) c.5314G>C (p.Val1772Leu) c.5395G>C (p.Val1799Leu) c.5350G>C (p.Val1784Leu) c.5335G>C (p.Val1779Leu) | |
9 | g.128617656G>T | CA375075779 | SPTAN1 | c.5410G>T (p.Val1804Leu) c.5374G>T (p.Val1792Leu) c.4837G>T (p.Val1613Leu) c.2997G>T c.984G>T n.602G>T c.5299G>T (p.Val1767Leu) c.5359G>T (p.Val1787Leu) c.5314G>T (p.Val1772Leu) c.5395G>T (p.Val1799Leu) c.5350G>T (p.Val1784Leu) c.5335G>T (p.Val1779Leu) | |
9 | g.128617657T>A | CA375075786 | SPTAN1 | c.5411T>A (p.Val1804Glu) c.5375T>A (p.Val1792Glu) c.4838T>A (p.Val1613Glu) c.2998T>A c.985T>A n.603T>A c.5300T>A (p.Val1767Glu) c.5360T>A (p.Val1787Glu) c.5315T>A (p.Val1772Glu) c.5396T>A (p.Val1799Glu) c.5351T>A (p.Val1784Glu) c.5336T>A (p.Val1779Glu) | |
9 | g.128617657T>C | CA375075795 | SPTAN1 | c.5411T>C (p.Val1804Ala) c.5375T>C (p.Val1792Ala) c.4838T>C (p.Val1613Ala) c.2998T>C c.985T>C n.603T>C c.5300T>C (p.Val1767Ala) c.5360T>C (p.Val1787Ala) c.5315T>C (p.Val1772Ala) c.5396T>C (p.Val1799Ala) c.5351T>C (p.Val1784Ala) c.5336T>C (p.Val1779Ala) | |
9 | g.128617657T>G | CA375075792 | SPTAN1 | c.5411T>G (p.Val1804Gly) c.5375T>G (p.Val1792Gly) c.4838T>G (p.Val1613Gly) c.2998T>G c.985T>G n.603T>G c.5300T>G (p.Val1767Gly) c.5360T>G (p.Val1787Gly) c.5315T>G (p.Val1772Gly) c.5396T>G (p.Val1799Gly) c.5351T>G (p.Val1784Gly) c.5336T>G (p.Val1779Gly) | |
9 | g.128617658G>A | CA467303744 | SPTAN1 | c.5412G>A (p.Val1804=) c.5376G>A (p.Val1792=) c.4839G>A (p.Val1613=) c.2999G>A c.986G>A n.604G>A c.5301G>A (p.Val1767=) c.5361G>A (p.Val1787=) c.5316G>A (p.Val1772=) c.5397G>A (p.Val1799=) c.5352G>A (p.Val1784=) c.5337G>A (p.Val1779=) | |
9 | g.128617658G>C | CA467303745 | SPTAN1 | c.5412G>C (p.Val1804=) c.5376G>C (p.Val1792=) c.4839G>C (p.Val1613=) c.2999G>C c.986G>C n.604G>C c.5301G>C (p.Val1767=) c.5361G>C (p.Val1787=) c.5316G>C (p.Val1772=) c.5397G>C (p.Val1799=) c.5352G>C (p.Val1784=) c.5337G>C (p.Val1779=) | |
9 | g.128617658G>T | CA467303746 | SPTAN1 | c.5412G>T (p.Val1804=) c.5376G>T (p.Val1792=) c.4839G>T (p.Val1613=) c.2999G>T c.986G>T n.604G>T c.5301G>T (p.Val1767=) c.5361G>T (p.Val1787=) c.5316G>T (p.Val1772=) c.5397G>T (p.Val1799=) c.5352G>T (p.Val1784=) c.5337G>T (p.Val1779=) | |
9 | g.128617659G>A | CA5265448 | SPTAN1 | c.5413G>A (p.Gly1805Ser) c.5377G>A (p.Gly1793Ser) c.4840G>A (p.Gly1614Ser) c.3000G>A c.987G>A n.605G>A c.5302G>A (p.Gly1768Ser) c.5362G>A (p.Gly1788Ser) c.5317G>A (p.Gly1773Ser) c.5398G>A (p.Gly1800Ser) c.5353G>A (p.Gly1785Ser) c.5338G>A (p.Gly1780Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.128617659G>C | CA375075800 | SPTAN1 | c.5413G>C (p.Gly1805Arg) c.5377G>C (p.Gly1793Arg) c.4840G>C (p.Gly1614Arg) c.3000G>C c.987G>C n.605G>C c.5302G>C (p.Gly1768Arg) c.5362G>C (p.Gly1788Arg) c.5317G>C (p.Gly1773Arg) c.5398G>C (p.Gly1800Arg) c.5353G>C (p.Gly1785Arg) c.5338G>C (p.Gly1780Arg) | |
9 | g.128617659G= | CA1880364173 | SPTAN1 | c.5413G= (p.Gly1805=) c.5377G= (p.Gly1793=) c.4840G= (p.Gly1614=) c.3000G= c.987G= n.605G= c.5302G= (p.Gly1768=) c.5362G= (p.Gly1788=) c.5317G= (p.Gly1773=) c.5398G= (p.Gly1800=) c.5353G= (p.Gly1785=) c.5338G= (p.Gly1780=) | |
9 | g.128617659G>T | CA375075803 | SPTAN1 | c.5413G>T (p.Gly1805Cys) c.5377G>T (p.Gly1793Cys) c.4840G>T (p.Gly1614Cys) c.3000G>T c.987G>T n.605G>T c.5302G>T (p.Gly1768Cys) c.5362G>T (p.Gly1788Cys) c.5317G>T (p.Gly1773Cys) c.5398G>T (p.Gly1800Cys) c.5353G>T (p.Gly1785Cys) c.5338G>T (p.Gly1780Cys) | |
9 | g.128617660G>A | CA375075805 | SPTAN1 | c.5414G>A (p.Gly1805Asp) c.5378G>A (p.Gly1793Asp) c.4841G>A (p.Gly1614Asp) c.3001G>A c.988G>A n.606G>A c.5303G>A (p.Gly1768Asp) c.5363G>A (p.Gly1788Asp) c.5318G>A (p.Gly1773Asp) c.5399G>A (p.Gly1800Asp) c.5354G>A (p.Gly1785Asp) c.5339G>A (p.Gly1780Asp) | |
9 | g.128617660G>C | CA375075808 | SPTAN1 | c.5414G>C (p.Gly1805Ala) c.5378G>C (p.Gly1793Ala) c.4841G>C (p.Gly1614Ala) c.3001G>C c.988G>C n.606G>C c.5303G>C (p.Gly1768Ala) c.5363G>C (p.Gly1788Ala) c.5318G>C (p.Gly1773Ala) c.5399G>C (p.Gly1800Ala) c.5354G>C (p.Gly1785Ala) c.5339G>C (p.Gly1780Ala) | |
9 | g.128617660G>T | CA375075811 | SPTAN1 | c.5414G>T (p.Gly1805Val) c.5378G>T (p.Gly1793Val) c.4841G>T (p.Gly1614Val) c.3001G>T c.988G>T n.606G>T c.5303G>T (p.Gly1768Val) c.5363G>T (p.Gly1788Val) c.5318G>T (p.Gly1773Val) c.5399G>T (p.Gly1800Val) c.5354G>T (p.Gly1785Val) c.5339G>T (p.Gly1780Val) | |
9 | g.128617661C>A | CA467303750 | SPTAN1 | c.5415C>A (p.Gly1805=) c.5379C>A (p.Gly1793=) c.4842C>A (p.Gly1614=) c.3002C>A c.989C>A n.607C>A c.5304C>A (p.Gly1768=) c.5364C>A (p.Gly1788=) c.5319C>A (p.Gly1773=) c.5400C>A (p.Gly1800=) c.5355C>A (p.Gly1785=) c.5340C>A (p.Gly1780=) | |
9 | g.128617661C= | CA1880364174 | SPTAN1 | c.5415C= (p.Gly1805=) c.5379C= (p.Gly1793=) c.4842C= (p.Gly1614=) c.3002C= c.989C= n.607C= c.5304C= (p.Gly1768=) c.5364C= (p.Gly1788=) c.5319C= (p.Gly1773=) c.5400C= (p.Gly1800=) c.5355C= (p.Gly1785=) c.5340C= (p.Gly1780=) | |
9 | g.128617661C>G | CA467303751 | SPTAN1 | c.5415C>G (p.Gly1805=) c.5379C>G (p.Gly1793=) c.4842C>G (p.Gly1614=) c.3002C>G c.989C>G n.607C>G c.5304C>G (p.Gly1768=) c.5364C>G (p.Gly1788=) c.5319C>G (p.Gly1773=) c.5400C>G (p.Gly1800=) c.5355C>G (p.Gly1785=) c.5340C>G (p.Gly1780=) | |
9 | g.128617661C>T | CA467303752 | SPTAN1 | c.5415C>T (p.Gly1805=) c.5379C>T (p.Gly1793=) c.4842C>T (p.Gly1614=) c.3002C>T c.989C>T n.607C>T c.5304C>T (p.Gly1768=) c.5364C>T (p.Gly1788=) c.5319C>T (p.Gly1773=) c.5400C>T (p.Gly1800=) c.5355C>T (p.Gly1785=) c.5340C>T (p.Gly1780=) | ClinVar dbSNP |
9 | g.128617662T>A | CA375075813 | SPTAN1 | c.5416T>A (p.Ser1806Thr) c.5380T>A (p.Ser1794Thr) c.4843T>A (p.Ser1615Thr) c.3003T>A c.990T>A n.608T>A c.5305T>A (p.Ser1769Thr) c.5365T>A (p.Ser1789Thr) c.5320T>A (p.Ser1774Thr) c.5401T>A (p.Ser1801Thr) c.5356T>A (p.Ser1786Thr) c.5341T>A (p.Ser1781Thr) | gnomAD v4 |
9 | g.128617662T>C | CA375075815 | SPTAN1 | c.5416T>C (p.Ser1806Pro) c.5380T>C (p.Ser1794Pro) c.4843T>C (p.Ser1615Pro) c.3003T>C c.990T>C n.608T>C c.5305T>C (p.Ser1769Pro) c.5365T>C (p.Ser1789Pro) c.5320T>C (p.Ser1774Pro) c.5401T>C (p.Ser1801Pro) c.5356T>C (p.Ser1786Pro) c.5341T>C (p.Ser1781Pro) | |
9 | g.128617662T>G | CA375075818 | SPTAN1 | c.5416T>G (p.Ser1806Ala) c.5380T>G (p.Ser1794Ala) c.4843T>G (p.Ser1615Ala) c.3003T>G c.990T>G n.608T>G c.5305T>G (p.Ser1769Ala) c.5365T>G (p.Ser1789Ala) c.5320T>G (p.Ser1774Ala) c.5401T>G (p.Ser1801Ala) c.5356T>G (p.Ser1786Ala) c.5341T>G (p.Ser1781Ala) | |
9 | g.128617663C>A | CA375075821 | SPTAN1 | c.5417C>A (p.Ser1806Ter) c.5381C>A (p.Ser1794Ter) c.4844C>A (p.Ser1615Ter) c.3004C>A c.991C>A n.609C>A c.5306C>A (p.Ser1769Ter) c.5366C>A (p.Ser1789Ter) c.5321C>A (p.Ser1774Ter) c.5402C>A (p.Ser1801Ter) c.5357C>A (p.Ser1786Ter) c.5342C>A (p.Ser1781Ter) | |
9 | g.128617663C>G | CA375075823 | SPTAN1 | c.5417C>G (p.Ser1806Ter) c.5381C>G (p.Ser1794Ter) c.4844C>G (p.Ser1615Ter) c.3004C>G c.991C>G n.609C>G c.5306C>G (p.Ser1769Ter) c.5366C>G (p.Ser1789Ter) c.5321C>G (p.Ser1774Ter) c.5402C>G (p.Ser1801Ter) c.5357C>G (p.Ser1786Ter) c.5342C>G (p.Ser1781Ter) | |
9 | g.128617663C>T | CA375075826 | SPTAN1 | c.5417C>T (p.Ser1806Leu) c.5381C>T (p.Ser1794Leu) c.4844C>T (p.Ser1615Leu) c.3004C>T c.991C>T n.609C>T c.5306C>T (p.Ser1769Leu) c.5366C>T (p.Ser1789Leu) c.5321C>T (p.Ser1774Leu) c.5402C>T (p.Ser1801Leu) c.5357C>T (p.Ser1786Leu) c.5342C>T (p.Ser1781Leu) | gnomAD v4 |
9 | g.128617664A= | CA1880364175 | SPTAN1 | c.5418A= (p.Ser1806=) c.5382A= (p.Ser1794=) c.4845A= (p.Ser1615=) c.3005A= c.992A= n.610A= c.5307A= (p.Ser1769=) c.5367A= (p.Ser1789=) c.5322A= (p.Ser1774=) c.5403A= (p.Ser1801=) c.5358A= (p.Ser1786=) c.5343A= (p.Ser1781=) | |
9 | g.128617664A>C | CA467303753 | SPTAN1 | c.5418A>C (p.Ser1806=) c.5382A>C (p.Ser1794=) c.4845A>C (p.Ser1615=) c.3005A>C c.992A>C n.610A>C c.5307A>C (p.Ser1769=) c.5367A>C (p.Ser1789=) c.5322A>C (p.Ser1774=) c.5403A>C (p.Ser1801=) c.5358A>C (p.Ser1786=) c.5343A>C (p.Ser1781=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
9 | g.128617664A>G | CA467303754 | SPTAN1 | c.5418A>G (p.Ser1806=) c.5382A>G (p.Ser1794=) c.4845A>G (p.Ser1615=) c.3005A>G c.992A>G n.610A>G c.5307A>G (p.Ser1769=) c.5367A>G (p.Ser1789=) c.5322A>G (p.Ser1774=) c.5403A>G (p.Ser1801=) c.5358A>G (p.Ser1786=) c.5343A>G (p.Ser1781=) | dbSNP gnomAD v4 |
9 | g.128617664A>T | CA467303755 | SPTAN1 | c.5418A>T (p.Ser1806=) c.5382A>T (p.Ser1794=) c.4845A>T (p.Ser1615=) c.3005A>T c.992A>T n.610A>T c.5307A>T (p.Ser1769=) c.5367A>T (p.Ser1789=) c.5322A>T (p.Ser1774=) c.5403A>T (p.Ser1801=) c.5358A>T (p.Ser1786=) c.5343A>T (p.Ser1781=) | |
9 | g.128617665G>A | CA375075844 | SPTAN1 | c.5419G>A (p.Glu1807Lys) c.5383G>A (p.Glu1795Lys) c.4846G>A (p.Glu1616Lys) c.3006G>A c.993G>A n.611G>A c.5308G>A (p.Glu1770Lys) c.5368G>A (p.Glu1790Lys) c.5323G>A (p.Glu1775Lys) c.5404G>A (p.Glu1802Lys) c.5359G>A (p.Glu1787Lys) c.5344G>A (p.Glu1782Lys) | |
9 | g.128617665G>C | CA375075837 | SPTAN1 | c.5419G>C (p.Glu1807Gln) c.5383G>C (p.Glu1795Gln) c.4846G>C (p.Glu1616Gln) c.3006G>C c.993G>C n.611G>C c.5308G>C (p.Glu1770Gln) c.5368G>C (p.Glu1790Gln) c.5323G>C (p.Glu1775Gln) c.5404G>C (p.Glu1802Gln) c.5359G>C (p.Glu1787Gln) c.5344G>C (p.Glu1782Gln) | COSMIC COSMIC |
9 | g.128617665G>T | CA375075839 | SPTAN1 | c.5419G>T (p.Glu1807Ter) c.5383G>T (p.Glu1795Ter) c.4846G>T (p.Glu1616Ter) c.3006G>T c.993G>T n.611G>T c.5308G>T (p.Glu1770Ter) c.5368G>T (p.Glu1790Ter) c.5323G>T (p.Glu1775Ter) c.5404G>T (p.Glu1802Ter) c.5359G>T (p.Glu1787Ter) c.5344G>T (p.Glu1782Ter) | |
9 | g.128617666A>C | CA375075849 | SPTAN1 | c.5420A>C (p.Glu1807Ala) c.5384A>C (p.Glu1795Ala) c.4847A>C (p.Glu1616Ala) c.3007A>C c.994A>C n.612A>C c.5309A>C (p.Glu1770Ala) c.5369A>C (p.Glu1790Ala) c.5324A>C (p.Glu1775Ala) c.5405A>C (p.Glu1802Ala) c.5360A>C (p.Glu1787Ala) c.5345A>C (p.Glu1782Ala) | |
9 | g.128617666A>G | CA375075851 | SPTAN1 | c.5420A>G (p.Glu1807Gly) c.5384A>G (p.Glu1795Gly) c.4847A>G (p.Glu1616Gly) c.3007A>G c.994A>G n.612A>G c.5309A>G (p.Glu1770Gly) c.5369A>G (p.Glu1790Gly) c.5324A>G (p.Glu1775Gly) c.5405A>G (p.Glu1802Gly) c.5360A>G (p.Glu1787Gly) c.5345A>G (p.Glu1782Gly) | |
9 | g.128617666A>T | CA375075854 | SPTAN1 | c.5420A>T (p.Glu1807Val) c.5384A>T (p.Glu1795Val) c.4847A>T (p.Glu1616Val) c.3007A>T c.994A>T n.612A>T c.5309A>T (p.Glu1770Val) c.5369A>T (p.Glu1790Val) c.5324A>T (p.Glu1775Val) c.5405A>T (p.Glu1802Val) c.5360A>T (p.Glu1787Val) c.5345A>T (p.Glu1782Val) | |
9 | g.128617667G>A | CA467303756 | SPTAN1 | c.5421G>A (p.Glu1807=) c.5385G>A (p.Glu1795=) c.4848G>A (p.Glu1616=) c.3008G>A c.995G>A n.613G>A c.5310G>A (p.Glu1770=) c.5370G>A (p.Glu1790=) c.5325G>A (p.Glu1775=) c.5406G>A (p.Glu1802=) c.5361G>A (p.Glu1787=) c.5346G>A (p.Glu1782=) | |
9 | g.128617667G>C | CA375075858 | SPTAN1 | c.5421G>C (p.Glu1807Asp) c.5385G>C (p.Glu1795Asp) c.4848G>C (p.Glu1616Asp) c.3008G>C c.995G>C n.613G>C c.5310G>C (p.Glu1770Asp) c.5370G>C (p.Glu1790Asp) c.5325G>C (p.Glu1775Asp) c.5406G>C (p.Glu1802Asp) c.5361G>C (p.Glu1787Asp) c.5346G>C (p.Glu1782Asp) | |
9 | g.128617667G>T | CA375075861 | SPTAN1 | c.5421G>T (p.Glu1807Asp) c.5385G>T (p.Glu1795Asp) c.4848G>T (p.Glu1616Asp) c.3008G>T c.995G>T n.613G>T c.5310G>T (p.Glu1770Asp) c.5370G>T (p.Glu1790Asp) c.5325G>T (p.Glu1775Asp) c.5406G>T (p.Glu1802Asp) c.5361G>T (p.Glu1787Asp) c.5346G>T (p.Glu1782Asp) | dbSNP |
9 | g.128617668G>A | CA375075864 | SPTAN1 | c.5422G>A (p.Asp1808Asn) c.5386G>A (p.Asp1796Asn) c.4849G>A (p.Asp1617Asn) c.3009G>A c.996G>A n.614G>A c.5311G>A (p.Asp1771Asn) c.5371G>A (p.Asp1791Asn) c.5326G>A (p.Asp1776Asn) c.5407G>A (p.Asp1803Asn) c.5362G>A (p.Asp1788Asn) c.5347G>A (p.Asp1783Asn) | dbSNP gnomAD v2 |
9 | g.128617668G>C | CA375075866 | SPTAN1 | c.5422G>C (p.Asp1808His) c.5386G>C (p.Asp1796His) c.4849G>C (p.Asp1617His) c.3009G>C c.996G>C n.614G>C c.5311G>C (p.Asp1771His) c.5371G>C (p.Asp1791His) c.5326G>C (p.Asp1776His) c.5407G>C (p.Asp1803His) c.5362G>C (p.Asp1788His) c.5347G>C (p.Asp1783His) | |
9 | g.128617668G= | CA1880364176 | SPTAN1 | c.5422G= (p.Asp1808=) c.5386G= (p.Asp1796=) c.4849G= (p.Asp1617=) c.3009G= c.996G= n.614G= c.5311G= (p.Asp1771=) c.5371G= (p.Asp1791=) c.5326G= (p.Asp1776=) c.5407G= (p.Asp1803=) c.5362G= (p.Asp1788=) c.5347G= (p.Asp1783=) | |
9 | g.128617668G>T | CA375075873 | SPTAN1 | c.5422G>T (p.Asp1808Tyr) c.5386G>T (p.Asp1796Tyr) c.4849G>T (p.Asp1617Tyr) c.3009G>T c.996G>T n.614G>T c.5311G>T (p.Asp1771Tyr) c.5371G>T (p.Asp1791Tyr) c.5326G>T (p.Asp1776Tyr) c.5407G>T (p.Asp1803Tyr) c.5362G>T (p.Asp1788Tyr) c.5347G>T (p.Asp1783Tyr) | |
9 | g.128617669A>C | CA375075877 | SPTAN1 | c.5423A>C (p.Asp1808Ala) c.5387A>C (p.Asp1796Ala) c.4850A>C (p.Asp1617Ala) c.3010A>C c.997A>C n.615A>C c.5312A>C (p.Asp1771Ala) c.5372A>C (p.Asp1791Ala) c.5327A>C (p.Asp1776Ala) c.5408A>C (p.Asp1803Ala) c.5363A>C (p.Asp1788Ala) c.5348A>C (p.Asp1783Ala) | |
9 | g.128617669A>G | CA375075879 | SPTAN1 | c.5423A>G (p.Asp1808Gly) c.5387A>G (p.Asp1796Gly) c.4850A>G (p.Asp1617Gly) c.3010A>G c.997A>G n.615A>G c.5312A>G (p.Asp1771Gly) c.5372A>G (p.Asp1791Gly) c.5327A>G (p.Asp1776Gly) c.5408A>G (p.Asp1803Gly) c.5363A>G (p.Asp1788Gly) c.5348A>G (p.Asp1783Gly) | |
9 | g.128617669A>T | CA375075882 | SPTAN1 | c.5423A>T (p.Asp1808Val) c.5387A>T (p.Asp1796Val) c.4850A>T (p.Asp1617Val) c.3010A>T c.997A>T n.615A>T c.5312A>T (p.Asp1771Val) c.5372A>T (p.Asp1791Val) c.5327A>T (p.Asp1776Val) c.5408A>T (p.Asp1803Val) c.5363A>T (p.Asp1788Val) c.5348A>T (p.Asp1783Val) | |
9 | g.128617670C>A | CA375075889 | SPTAN1 | c.5424C>A (p.Asp1808Glu) c.5388C>A (p.Asp1796Glu) c.4851C>A (p.Asp1617Glu) c.3011C>A c.998C>A n.616C>A c.5313C>A (p.Asp1771Glu) c.5373C>A (p.Asp1791Glu) c.5328C>A (p.Asp1776Glu) c.5409C>A (p.Asp1803Glu) c.5364C>A (p.Asp1788Glu) c.5349C>A (p.Asp1783Glu) | |
9 | g.128617670C>G | CA375075886 | SPTAN1 | c.5424C>G (p.Asp1808Glu) c.5388C>G (p.Asp1796Glu) c.4851C>G (p.Asp1617Glu) c.3011C>G c.998C>G n.616C>G c.5313C>G (p.Asp1771Glu) c.5373C>G (p.Asp1791Glu) c.5328C>G (p.Asp1776Glu) c.5409C>G (p.Asp1803Glu) c.5364C>G (p.Asp1788Glu) c.5349C>G (p.Asp1783Glu) | ClinVar gnomAD v4 |
9 | g.128617670C>T | CA467303757 | SPTAN1 | c.5424C>T (p.Asp1808=) c.5388C>T (p.Asp1796=) c.4851C>T (p.Asp1617=) c.3011C>T c.998C>T n.616C>T c.5313C>T (p.Asp1771=) c.5373C>T (p.Asp1791=) c.5328C>T (p.Asp1776=) c.5409C>T (p.Asp1803=) c.5364C>T (p.Asp1788=) c.5349C>T (p.Asp1783=) | |
9 | g.128617671T>A | CA375075895 | SPTAN1 | c.5425T>A (p.Tyr1809Asn) c.5389T>A (p.Tyr1797Asn) c.4852T>A (p.Tyr1618Asn) c.3012T>A c.999T>A n.617T>A c.5314T>A (p.Tyr1772Asn) c.5374T>A (p.Tyr1792Asn) c.5329T>A (p.Tyr1777Asn) c.5410T>A (p.Tyr1804Asn) c.5365T>A (p.Tyr1789Asn) c.5350T>A (p.Tyr1784Asn) | |
9 | g.128617671T>C | CA375075912 | SPTAN1 | c.5425T>C (p.Tyr1809His) c.5389T>C (p.Tyr1797His) c.4852T>C (p.Tyr1618His) c.3012T>C c.999T>C n.617T>C c.5314T>C (p.Tyr1772His) c.5374T>C (p.Tyr1792His) c.5329T>C (p.Tyr1777His) c.5410T>C (p.Tyr1804His) c.5365T>C (p.Tyr1789His) c.5350T>C (p.Tyr1784His) | |
9 | g.128617671T>G | CA375075916 | SPTAN1 | c.5425T>G (p.Tyr1809Asp) c.5389T>G (p.Tyr1797Asp) c.4852T>G (p.Tyr1618Asp) c.3012T>G c.999T>G n.617T>G c.5314T>G (p.Tyr1772Asp) c.5374T>G (p.Tyr1792Asp) c.5329T>G (p.Tyr1777Asp) c.5410T>G (p.Tyr1804Asp) c.5365T>G (p.Tyr1789Asp) c.5350T>G (p.Tyr1784Asp) | |
9 | g.128617672A= | CA1880364177 | SPTAN1 | c.5426A= (p.Tyr1809=) c.5390A= (p.Tyr1797=) c.4853A= (p.Tyr1618=) c.3013A= c.1000A= n.618A= c.5315A= (p.Tyr1772=) c.5375A= (p.Tyr1792=) c.5330A= (p.Tyr1777=) c.5411A= (p.Tyr1804=) c.5366A= (p.Tyr1789=) c.5351A= (p.Tyr1784=) | |
9 | g.128617672A>C | CA375075921 | SPTAN1 | c.5426A>C (p.Tyr1809Ser) c.5390A>C (p.Tyr1797Ser) c.4853A>C (p.Tyr1618Ser) c.3013A>C c.1000A>C n.618A>C c.5315A>C (p.Tyr1772Ser) c.5375A>C (p.Tyr1792Ser) c.5330A>C (p.Tyr1777Ser) c.5411A>C (p.Tyr1804Ser) c.5366A>C (p.Tyr1789Ser) c.5351A>C (p.Tyr1784Ser) | dbSNP |
9 | g.128617672A>G | CA375075923 | SPTAN1 | c.5426A>G (p.Tyr1809Cys) c.5390A>G (p.Tyr1797Cys) c.4853A>G (p.Tyr1618Cys) c.3013A>G c.1000A>G n.618A>G c.5315A>G (p.Tyr1772Cys) c.5375A>G (p.Tyr1792Cys) c.5330A>G (p.Tyr1777Cys) c.5411A>G (p.Tyr1804Cys) c.5366A>G (p.Tyr1789Cys) c.5351A>G (p.Tyr1784Cys) | gnomAD v4 |
9 | g.128617672A>T | CA375075926 | SPTAN1 | c.5426A>T (p.Tyr1809Phe) c.5390A>T (p.Tyr1797Phe) c.4853A>T (p.Tyr1618Phe) c.3013A>T c.1000A>T n.618A>T c.5315A>T (p.Tyr1772Phe) c.5375A>T (p.Tyr1792Phe) c.5330A>T (p.Tyr1777Phe) c.5411A>T (p.Tyr1804Phe) c.5366A>T (p.Tyr1789Phe) c.5351A>T (p.Tyr1784Phe) | |
9 | g.128617673C>A | CA375075930 | SPTAN1 | c.5427C>A (p.Tyr1809Ter) c.5391C>A (p.Tyr1797Ter) c.4854C>A (p.Tyr1618Ter) c.3014C>A c.1001C>A n.619C>A c.5316C>A (p.Tyr1772Ter) c.5376C>A (p.Tyr1792Ter) c.5331C>A (p.Tyr1777Ter) c.5412C>A (p.Tyr1804Ter) c.5367C>A (p.Tyr1789Ter) c.5352C>A (p.Tyr1784Ter) | |
9 | g.128617673C= | CA1880364178 | SPTAN1 | c.5427C= (p.Tyr1809=) c.5391C= (p.Tyr1797=) c.4854C= (p.Tyr1618=) c.3014C= c.1001C= n.619C= c.5316C= (p.Tyr1772=) c.5376C= (p.Tyr1792=) c.5331C= (p.Tyr1777=) c.5412C= (p.Tyr1804=) c.5367C= (p.Tyr1789=) c.5352C= (p.Tyr1784=) | |
9 | g.128617673C>G | CA375075934 | SPTAN1 | c.5427C>G (p.Tyr1809Ter) c.5391C>G (p.Tyr1797Ter) c.4854C>G (p.Tyr1618Ter) c.3014C>G c.1001C>G n.619C>G c.5316C>G (p.Tyr1772Ter) c.5376C>G (p.Tyr1792Ter) c.5331C>G (p.Tyr1777Ter) c.5412C>G (p.Tyr1804Ter) c.5367C>G (p.Tyr1789Ter) c.5352C>G (p.Tyr1784Ter) | ClinVar dbSNP |
9 | g.128617673C>T | CA5265449 | SPTAN1 | c.5427C>T (p.Tyr1809=) c.5391C>T (p.Tyr1797=) c.4854C>T (p.Tyr1618=) c.3014C>T c.1001C>T n.619C>T c.5316C>T (p.Tyr1772=) c.5376C>T (p.Tyr1792=) c.5331C>T (p.Tyr1777=) c.5412C>T (p.Tyr1804=) c.5367C>T (p.Tyr1789=) c.5352C>T (p.Tyr1784=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
9 | g.128617674G>A | CA5265450 | SPTAN1 | c.5428G>A (p.Gly1810Ser) c.5392G>A (p.Gly1798Ser) c.4855G>A (p.Gly1619Ser) c.3015G>A c.1002G>A n.620G>A c.5317G>A (p.Gly1773Ser) c.5377G>A (p.Gly1793Ser) c.5332G>A (p.Gly1778Ser) c.5413G>A (p.Gly1805Ser) c.5368G>A (p.Gly1790Ser) c.5353G>A (p.Gly1785Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.128617674G>C | CA375075943 | SPTAN1 | c.5428G>C (p.Gly1810Arg) c.5392G>C (p.Gly1798Arg) c.4855G>C (p.Gly1619Arg) c.3015G>C c.1002G>C n.620G>C c.5317G>C (p.Gly1773Arg) c.5377G>C (p.Gly1793Arg) c.5332G>C (p.Gly1778Arg) c.5413G>C (p.Gly1805Arg) c.5368G>C (p.Gly1790Arg) c.5353G>C (p.Gly1785Arg) | |
9 | g.128617674G= | CA1880364179 | SPTAN1 | c.5428G= (p.Gly1810=) c.5392G= (p.Gly1798=) c.4855G= (p.Gly1619=) c.3015G= c.1002G= n.620G= c.5317G= (p.Gly1773=) c.5377G= (p.Gly1793=) c.5332G= (p.Gly1778=) c.5413G= (p.Gly1805=) c.5368G= (p.Gly1790=) c.5353G= (p.Gly1785=) | |
9 | g.128617674G>T | CA375075946 | SPTAN1 | c.5428G>T (p.Gly1810Cys) c.5392G>T (p.Gly1798Cys) c.4855G>T (p.Gly1619Cys) c.3015G>T c.1002G>T n.620G>T c.5317G>T (p.Gly1773Cys) c.5377G>T (p.Gly1793Cys) c.5332G>T (p.Gly1778Cys) c.5413G>T (p.Gly1805Cys) c.5368G>T (p.Gly1790Cys) c.5353G>T (p.Gly1785Cys) | ClinVar dbSNP |
9 | g.128617675G>A | CA375075951 | SPTAN1 | c.5429G>A (p.Gly1810Asp) c.5393G>A (p.Gly1798Asp) c.4856G>A (p.Gly1619Asp) c.3016G>A c.1003G>A n.621G>A c.5318G>A (p.Gly1773Asp) c.5378G>A (p.Gly1793Asp) c.5333G>A (p.Gly1778Asp) c.5414G>A (p.Gly1805Asp) c.5369G>A (p.Gly1790Asp) c.5354G>A (p.Gly1785Asp) | |
9 | g.128617675G>C | CA375075952 | SPTAN1 | c.5429G>C (p.Gly1810Ala) c.5393G>C (p.Gly1798Ala) c.4856G>C (p.Gly1619Ala) c.3016G>C c.1003G>C n.621G>C c.5318G>C (p.Gly1773Ala) c.5378G>C (p.Gly1793Ala) c.5333G>C (p.Gly1778Ala) c.5414G>C (p.Gly1805Ala) c.5369G>C (p.Gly1790Ala) c.5354G>C (p.Gly1785Ala) | |
9 | g.128617675G>T | CA375075950 | SPTAN1 | c.5429G>T (p.Gly1810Val) c.5393G>T (p.Gly1798Val) c.4856G>T (p.Gly1619Val) c.3016G>T c.1003G>T n.621G>T c.5318G>T (p.Gly1773Val) c.5378G>T (p.Gly1793Val) c.5333G>T (p.Gly1778Val) c.5414G>T (p.Gly1805Val) c.5369G>T (p.Gly1790Val) c.5354G>T (p.Gly1785Val) | |
9 | g.128617676C>A | CA467303758 | SPTAN1 | c.5430C>A (p.Gly1810=) c.5394C>A (p.Gly1798=) c.4857C>A (p.Gly1619=) c.3017C>A c.1004C>A n.622C>A c.5319C>A (p.Gly1773=) c.5379C>A (p.Gly1793=) c.5334C>A (p.Gly1778=) c.5415C>A (p.Gly1805=) c.5370C>A (p.Gly1790=) c.5355C>A (p.Gly1785=) | |
9 | g.128617676C>G | CA467303759 | SPTAN1 | c.5430C>G (p.Gly1810=) c.5394C>G (p.Gly1798=) c.4857C>G (p.Gly1619=) c.3017C>G c.1004C>G n.622C>G c.5319C>G (p.Gly1773=) c.5379C>G (p.Gly1793=) c.5334C>G (p.Gly1778=) c.5415C>G (p.Gly1805=) c.5370C>G (p.Gly1790=) c.5355C>G (p.Gly1785=) | |
9 | g.128617676C>T | CA467303760 | SPTAN1 | c.5430C>T (p.Gly1810=) c.5394C>T (p.Gly1798=) c.4857C>T (p.Gly1619=) c.3017C>T c.1004C>T n.622C>T c.5319C>T (p.Gly1773=) c.5379C>T (p.Gly1793=) c.5334C>T (p.Gly1778=) c.5415C>T (p.Gly1805=) c.5370C>T (p.Gly1790=) c.5355C>T (p.Gly1785=) | |
9 | g.128617677C>A | CA467303761 | SPTAN1 | c.5431C>A (p.Arg1811=) c.5395C>A (p.Arg1799=) c.4858C>A (p.Arg1620=) c.3018C>A c.1005C>A n.623C>A c.5320C>A (p.Arg1774=) c.5380C>A (p.Arg1794=) c.5335C>A (p.Arg1779=) c.5416C>A (p.Arg1806=) c.5371C>A (p.Arg1791=) c.5356C>A (p.Arg1786=) | |
9 | g.128617677C>G | CA375075953 | SPTAN1 | c.5431C>G (p.Arg1811Gly) c.5395C>G (p.Arg1799Gly) c.4858C>G (p.Arg1620Gly) c.3018C>G c.1005C>G n.623C>G c.5320C>G (p.Arg1774Gly) c.5380C>G (p.Arg1794Gly) c.5335C>G (p.Arg1779Gly) c.5416C>G (p.Arg1806Gly) c.5371C>G (p.Arg1791Gly) c.5356C>G (p.Arg1786Gly) | |
9 | g.128617677C>T | CA375075954 | SPTAN1 | c.5431C>T (p.Arg1811Trp) c.5395C>T (p.Arg1799Trp) c.4858C>T (p.Arg1620Trp) c.3018C>T c.1005C>T n.623C>T c.5320C>T (p.Arg1774Trp) c.5380C>T (p.Arg1794Trp) c.5335C>T (p.Arg1779Trp) c.5416C>T (p.Arg1806Trp) c.5371C>T (p.Arg1791Trp) c.5356C>T (p.Arg1786Trp) | COSMIC |
9 | g.128617678G>A | CA375075956 | SPTAN1 | c.5432G>A (p.Arg1811Gln) c.5396G>A (p.Arg1799Gln) c.4859G>A (p.Arg1620Gln) c.3019G>A c.1006G>A n.624G>A c.5321G>A (p.Arg1774Gln) c.5381G>A (p.Arg1794Gln) c.5336G>A (p.Arg1779Gln) c.5417G>A (p.Arg1806Gln) c.5372G>A (p.Arg1791Gln) c.5357G>A (p.Arg1786Gln) | ClinVar |
9 | g.128617678G>C | CA375075960 | SPTAN1 | c.5432G>C (p.Arg1811Pro) c.5396G>C (p.Arg1799Pro) c.4859G>C (p.Arg1620Pro) c.3019G>C c.1006G>C n.624G>C c.5321G>C (p.Arg1774Pro) c.5381G>C (p.Arg1794Pro) c.5336G>C (p.Arg1779Pro) c.5417G>C (p.Arg1806Pro) c.5372G>C (p.Arg1791Pro) c.5357G>C (p.Arg1786Pro) | |
9 | g.128617678G>T | CA375075961 | SPTAN1 | c.5432G>T (p.Arg1811Leu) c.5396G>T (p.Arg1799Leu) c.4859G>T (p.Arg1620Leu) c.3019G>T c.1006G>T n.624G>T c.5321G>T (p.Arg1774Leu) c.5381G>T (p.Arg1794Leu) c.5336G>T (p.Arg1779Leu) c.5417G>T (p.Arg1806Leu) c.5372G>T (p.Arg1791Leu) c.5357G>T (p.Arg1786Leu) | |
9 | g.128617679G>A | CA467303762 | SPTAN1 | c.5433G>A (p.Arg1811=) c.5397G>A (p.Arg1799=) c.4860G>A (p.Arg1620=) c.3020G>A c.1007G>A n.625G>A c.5322G>A (p.Arg1774=) c.5382G>A (p.Arg1794=) c.5337G>A (p.Arg1779=) c.5418G>A (p.Arg1806=) c.5373G>A (p.Arg1791=) c.5358G>A (p.Arg1786=) | |
9 | g.128617679G>C | CA467303763 | SPTAN1 | c.5433G>C (p.Arg1811=) c.5397G>C (p.Arg1799=) c.4860G>C (p.Arg1620=) c.3020G>C c.1007G>C n.625G>C c.5322G>C (p.Arg1774=) c.5382G>C (p.Arg1794=) c.5337G>C (p.Arg1779=) c.5418G>C (p.Arg1806=) c.5373G>C (p.Arg1791=) c.5358G>C (p.Arg1786=) | |
9 | g.128617679G>T | CA467303764 | SPTAN1 | c.5433G>T (p.Arg1811=) c.5397G>T (p.Arg1799=) c.4860G>T (p.Arg1620=) c.3020G>T c.1007G>T n.625G>T c.5322G>T (p.Arg1774=) c.5382G>T (p.Arg1794=) c.5337G>T (p.Arg1779=) c.5418G>T (p.Arg1806=) c.5373G>T (p.Arg1791=) c.5358G>T (p.Arg1786=) | |
9 | g.128617680G>A | CA375075972 | SPTAN1 | c.5434G>A (p.Asp1812Asn) c.5398G>A (p.Asp1800Asn) c.4861G>A (p.Asp1621Asn) c.3021G>A c.1008G>A n.626G>A c.5323G>A (p.Asp1775Asn) c.5383G>A (p.Asp1795Asn) c.5338G>A (p.Asp1780Asn) c.5419G>A (p.Asp1807Asn) c.5374G>A (p.Asp1792Asn) c.5359G>A (p.Asp1787Asn) | |
9 | g.128617680G>C | CA375075966 | SPTAN1 | c.5434G>C (p.Asp1812His) c.5398G>C (p.Asp1800His) c.4861G>C (p.Asp1621His) c.3021G>C c.1008G>C n.626G>C c.5323G>C (p.Asp1775His) c.5383G>C (p.Asp1795His) c.5338G>C (p.Asp1780His) c.5419G>C (p.Asp1807His) c.5374G>C (p.Asp1792His) c.5359G>C (p.Asp1787His) | |
9 | g.128617680G>T | CA375075968 | SPTAN1 | c.5434G>T (p.Asp1812Tyr) c.5398G>T (p.Asp1800Tyr) c.4861G>T (p.Asp1621Tyr) c.3021G>T c.1008G>T n.626G>T c.5323G>T (p.Asp1775Tyr) c.5383G>T (p.Asp1795Tyr) c.5338G>T (p.Asp1780Tyr) c.5419G>T (p.Asp1807Tyr) c.5374G>T (p.Asp1792Tyr) c.5359G>T (p.Asp1787Tyr) | |
9 | g.128617681A>C | CA375075977 | SPTAN1 | c.5435A>C (p.Asp1812Ala) c.5399A>C (p.Asp1800Ala) c.4862A>C (p.Asp1621Ala) c.3022A>C c.1009A>C n.627A>C c.5324A>C (p.Asp1775Ala) c.5384A>C (p.Asp1795Ala) c.5339A>C (p.Asp1780Ala) c.5420A>C (p.Asp1807Ala) c.5375A>C (p.Asp1792Ala) c.5360A>C (p.Asp1787Ala) | |
9 | g.128617681A>G | CA375075979 | SPTAN1 | c.5435A>G (p.Asp1812Gly) c.5399A>G (p.Asp1800Gly) c.4862A>G (p.Asp1621Gly) c.3022A>G c.1009A>G n.627A>G c.5324A>G (p.Asp1775Gly) c.5384A>G (p.Asp1795Gly) c.5339A>G (p.Asp1780Gly) c.5420A>G (p.Asp1807Gly) c.5375A>G (p.Asp1792Gly) c.5360A>G (p.Asp1787Gly) | |
9 | g.128617681A>T | CA375075981 | SPTAN1 | c.5435A>T (p.Asp1812Val) c.5399A>T (p.Asp1800Val) c.4862A>T (p.Asp1621Val) c.3022A>T c.1009A>T n.627A>T c.5324A>T (p.Asp1775Val) c.5384A>T (p.Asp1795Val) c.5339A>T (p.Asp1780Val) c.5420A>T (p.Asp1807Val) c.5375A>T (p.Asp1792Val) c.5360A>T (p.Asp1787Val) | |
9 | g.128617682C>A | CA375075985 | SPTAN1 | c.5436C>A (p.Asp1812Glu) c.5400C>A (p.Asp1800Glu) c.4863C>A (p.Asp1621Glu) c.3023C>A c.1010C>A n.628C>A c.5325C>A (p.Asp1775Glu) c.5385C>A (p.Asp1795Glu) c.5340C>A (p.Asp1780Glu) c.5421C>A (p.Asp1807Glu) c.5376C>A (p.Asp1792Glu) c.5361C>A (p.Asp1787Glu) | |
9 | g.128617682C= | CA1880364180 | SPTAN1 | c.5436C= (p.Asp1812=) c.5400C= (p.Asp1800=) c.4863C= (p.Asp1621=) c.3023C= c.1010C= n.628C= c.5325C= (p.Asp1775=) c.5385C= (p.Asp1795=) c.5340C= (p.Asp1780=) c.5421C= (p.Asp1807=) c.5376C= (p.Asp1792=) c.5361C= (p.Asp1787=) | |
9 | g.128617682C>G | CA375075992 | SPTAN1 | c.5436C>G (p.Asp1812Glu) c.5400C>G (p.Asp1800Glu) c.4863C>G (p.Asp1621Glu) c.3023C>G c.1010C>G n.628C>G c.5325C>G (p.Asp1775Glu) c.5385C>G (p.Asp1795Glu) c.5340C>G (p.Asp1780Glu) c.5421C>G (p.Asp1807Glu) c.5376C>G (p.Asp1792Glu) c.5361C>G (p.Asp1787Glu) | ClinVar dbSNP gnomAD v4 |
9 | g.128617682C>T | CA5265451 | SPTAN1 | c.5436C>T (p.Asp1812=) c.5400C>T (p.Asp1800=) c.4863C>T (p.Asp1621=) c.3023C>T c.1010C>T n.628C>T c.5325C>T (p.Asp1775=) c.5385C>T (p.Asp1795=) c.5340C>T (p.Asp1780=) c.5421C>T (p.Asp1807=) c.5376C>T (p.Asp1792=) c.5361C>T (p.Asp1787=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.128617683C>A | CA375075997 | SPTAN1 | c.5437C>A (p.Leu1813Ile) c.5401C>A (p.Leu1801Ile) c.4864C>A (p.Leu1622Ile) c.3024C>A c.1011C>A n.629C>A c.5326C>A (p.Leu1776Ile) c.5386C>A (p.Leu1796Ile) c.5341C>A (p.Leu1781Ile) c.5422C>A (p.Leu1808Ile) c.5377C>A (p.Leu1793Ile) c.5362C>A (p.Leu1788Ile) | |
9 | g.128617683C>G | CA375076010 | SPTAN1 | c.5437C>G (p.Leu1813Val) c.5401C>G (p.Leu1801Val) c.4864C>G (p.Leu1622Val) c.3024C>G c.1011C>G n.629C>G c.5326C>G (p.Leu1776Val) c.5386C>G (p.Leu1796Val) c.5341C>G (p.Leu1781Val) c.5422C>G (p.Leu1808Val) c.5377C>G (p.Leu1793Val) c.5362C>G (p.Leu1788Val) | |
9 | g.128617683C>T | CA467303765 | SPTAN1 | c.5437C>T (p.Leu1813=) c.5401C>T (p.Leu1801=) c.4864C>T (p.Leu1622=) c.3024C>T c.1011C>T n.629C>T c.5326C>T (p.Leu1776=) c.5386C>T (p.Leu1796=) c.5341C>T (p.Leu1781=) c.5422C>T (p.Leu1808=) c.5377C>T (p.Leu1793=) c.5362C>T (p.Leu1788=) | |
9 | g.128617684T>A | CA375076015 | SPTAN1 | c.5438T>A (p.Leu1813Gln) c.5402T>A (p.Leu1801Gln) c.4865T>A (p.Leu1622Gln) c.3025T>A c.1012T>A n.630T>A c.5327T>A (p.Leu1776Gln) c.5387T>A (p.Leu1796Gln) c.5342T>A (p.Leu1781Gln) c.5423T>A (p.Leu1808Gln) c.5378T>A (p.Leu1793Gln) c.5363T>A (p.Leu1788Gln) | |
9 | g.128617684T>C | CA375076023 | SPTAN1 | c.5438T>C (p.Leu1813Pro) c.5402T>C (p.Leu1801Pro) c.4865T>C (p.Leu1622Pro) c.3025T>C c.1012T>C n.630T>C c.5327T>C (p.Leu1776Pro) c.5387T>C (p.Leu1796Pro) c.5342T>C (p.Leu1781Pro) c.5423T>C (p.Leu1808Pro) c.5378T>C (p.Leu1793Pro) c.5363T>C (p.Leu1788Pro) | |
9 | g.128617684T>G | CA375076019 | SPTAN1 | c.5438T>G (p.Leu1813Arg) c.5402T>G (p.Leu1801Arg) c.4865T>G (p.Leu1622Arg) c.3025T>G c.1012T>G n.630T>G c.5327T>G (p.Leu1776Arg) c.5387T>G (p.Leu1796Arg) c.5342T>G (p.Leu1781Arg) c.5423T>G (p.Leu1808Arg) c.5378T>G (p.Leu1793Arg) c.5363T>G (p.Leu1788Arg) | |
9 | g.128617685A= | CA1880364181 | SPTAN1 | c.5439A= (p.Leu1813=) c.5403A= (p.Leu1801=) c.4866A= (p.Leu1622=) c.3026A= c.1013A= n.631A= c.5328A= (p.Leu1776=) c.5388A= (p.Leu1796=) c.5343A= (p.Leu1781=) c.5424A= (p.Leu1808=) c.5379A= (p.Leu1793=) c.5364A= (p.Leu1788=) | |
9 | g.128617685A>C | CA467303766 | SPTAN1 | c.5439A>C (p.Leu1813=) c.5403A>C (p.Leu1801=) c.4866A>C (p.Leu1622=) c.3026A>C c.1013A>C n.631A>C c.5328A>C (p.Leu1776=) c.5388A>C (p.Leu1796=) c.5343A>C (p.Leu1781=) c.5424A>C (p.Leu1808=) c.5379A>C (p.Leu1793=) c.5364A>C (p.Leu1788=) | |
9 | g.128617685A>G | CA467303767 | SPTAN1 | c.5439A>G (p.Leu1813=) c.5403A>G (p.Leu1801=) c.4866A>G (p.Leu1622=) c.3026A>G c.1013A>G n.631A>G c.5328A>G (p.Leu1776=) c.5388A>G (p.Leu1796=) c.5343A>G (p.Leu1781=) c.5424A>G (p.Leu1808=) c.5379A>G (p.Leu1793=) c.5364A>G (p.Leu1788=) | dbSNP gnomAD v4 |
9 | g.128617685A>T | CA467303768 | SPTAN1 | c.5439A>T (p.Leu1813=) c.5403A>T (p.Leu1801=) c.4866A>T (p.Leu1622=) c.3026A>T c.1013A>T n.631A>T c.5328A>T (p.Leu1776=) c.5388A>T (p.Leu1796=) c.5343A>T (p.Leu1781=) c.5424A>T (p.Leu1808=) c.5379A>T (p.Leu1793=) c.5364A>T (p.Leu1788=) | |
9 | g.128617686A>C | CA375076027 | SPTAN1 | c.5440A>C (p.Thr1814Pro) c.5404A>C (p.Thr1802Pro) c.4867A>C (p.Thr1623Pro) c.3027A>C c.1014A>C n.632A>C c.5329A>C (p.Thr1777Pro) c.5389A>C (p.Thr1797Pro) c.5344A>C (p.Thr1782Pro) c.5425A>C (p.Thr1809Pro) c.5380A>C (p.Thr1794Pro) c.5365A>C (p.Thr1789Pro) | |
9 | g.128617686A>G | CA375076032 | SPTAN1 | c.5440A>G (p.Thr1814Ala) c.5404A>G (p.Thr1802Ala) c.4867A>G (p.Thr1623Ala) c.3027A>G c.1014A>G n.632A>G c.5329A>G (p.Thr1777Ala) c.5389A>G (p.Thr1797Ala) c.5344A>G (p.Thr1782Ala) c.5425A>G (p.Thr1809Ala) c.5380A>G (p.Thr1794Ala) c.5365A>G (p.Thr1789Ala) | |
9 | g.128617686A>T | CA375076031 | SPTAN1 | c.5440A>T (p.Thr1814Ser) c.5404A>T (p.Thr1802Ser) c.4867A>T (p.Thr1623Ser) c.3027A>T c.1014A>T n.632A>T c.5329A>T (p.Thr1777Ser) c.5389A>T (p.Thr1797Ser) c.5344A>T (p.Thr1782Ser) c.5425A>T (p.Thr1809Ser) c.5380A>T (p.Thr1794Ser) c.5365A>T (p.Thr1789Ser) | |
9 | g.128617687C>A | CA375076036 | SPTAN1 | c.5441C>A (p.Thr1814Asn) c.5405C>A (p.Thr1802Asn) c.4868C>A (p.Thr1623Asn) c.3028C>A c.1015C>A n.633C>A c.5330C>A (p.Thr1777Asn) c.5390C>A (p.Thr1797Asn) c.5345C>A (p.Thr1782Asn) c.5426C>A (p.Thr1809Asn) c.5381C>A (p.Thr1794Asn) c.5366C>A (p.Thr1789Asn) | |
9 | g.128617687C>G | CA375076044 | SPTAN1 | c.5441C>G (p.Thr1814Ser) c.5405C>G (p.Thr1802Ser) c.4868C>G (p.Thr1623Ser) c.3028C>G c.1015C>G n.633C>G c.5330C>G (p.Thr1777Ser) c.5390C>G (p.Thr1797Ser) c.5345C>G (p.Thr1782Ser) c.5426C>G (p.Thr1809Ser) c.5381C>G (p.Thr1794Ser) c.5366C>G (p.Thr1789Ser) | |
9 | g.128617687C>T | CA375076042 | SPTAN1 | c.5441C>T (p.Thr1814Ile) c.5405C>T (p.Thr1802Ile) c.4868C>T (p.Thr1623Ile) c.3028C>T c.1015C>T n.633C>T c.5330C>T (p.Thr1777Ile) c.5390C>T (p.Thr1797Ile) c.5345C>T (p.Thr1782Ile) c.5426C>T (p.Thr1809Ile) c.5381C>T (p.Thr1794Ile) c.5366C>T (p.Thr1789Ile) | |
9 | g.128617688C>A | CA467303769 | SPTAN1 | c.5442C>A (p.Thr1814=) c.5406C>A (p.Thr1802=) c.4869C>A (p.Thr1623=) c.3029C>A c.1016C>A n.634C>A c.5331C>A (p.Thr1777=) c.5391C>A (p.Thr1797=) c.5346C>A (p.Thr1782=) c.5427C>A (p.Thr1809=) c.5382C>A (p.Thr1794=) c.5367C>A (p.Thr1789=) | gnomAD v4 |
9 | g.128617688C= | CA1630847997 | SPTAN1 | c.5442C= (p.Thr1814=) c.5406C= (p.Thr1802=) c.4869C= (p.Thr1623=) c.3029C= c.1016C= n.634C= c.5331C= (p.Thr1777=) c.5391C= (p.Thr1797=) c.5346C= (p.Thr1782=) c.5427C= (p.Thr1809=) c.5382C= (p.Thr1794=) c.5367C= (p.Thr1789=) | |
9 | g.128617688C>G | CA173576 | SPTAN1 | c.5442C>G (p.Thr1814=) c.5406C>G (p.Thr1802=) c.4869C>G (p.Thr1623=) c.3029C>G c.1016C>G n.634C>G c.5331C>G (p.Thr1777=) c.5391C>G (p.Thr1797=) c.5346C>G (p.Thr1782=) c.5427C>G (p.Thr1809=) c.5382C>G (p.Thr1794=) c.5367C>G (p.Thr1789=) | ClinVar dbSNP |
9 | g.128617688C>T | CA295184 | SPTAN1 | c.5442C>T (p.Thr1814=) c.5406C>T (p.Thr1802=) c.4869C>T (p.Thr1623=) c.3029C>T c.1016C>T n.634C>T c.5331C>T (p.Thr1777=) c.5391C>T (p.Thr1797=) c.5346C>T (p.Thr1782=) c.5427C>T (p.Thr1809=) c.5382C>T (p.Thr1794=) c.5367C>T (p.Thr1789=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
9 | g.128617689G>A | CA375076055 | SPTAN1 | c.5443G>A (p.Gly1815Ser) c.5407G>A (p.Gly1803Ser) c.4870G>A (p.Gly1624Ser) c.3030G>A c.1017G>A n.635G>A c.5332G>A (p.Gly1778Ser) c.5392G>A (p.Gly1798Ser) c.5347G>A (p.Gly1783Ser) c.5428G>A (p.Gly1810Ser) c.5383G>A (p.Gly1795Ser) c.5368G>A (p.Gly1790Ser) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.128617689G>C | CA375076056 | SPTAN1 | c.5443G>C (p.Gly1815Arg) c.5407G>C (p.Gly1803Arg) c.4870G>C (p.Gly1624Arg) c.3030G>C c.1017G>C n.635G>C c.5332G>C (p.Gly1778Arg) c.5392G>C (p.Gly1798Arg) c.5347G>C (p.Gly1783Arg) c.5428G>C (p.Gly1810Arg) c.5383G>C (p.Gly1795Arg) c.5368G>C (p.Gly1790Arg) | |
9 | g.128617689G= | CA1880364182 | SPTAN1 | c.5443G= (p.Gly1815=) c.5407G= (p.Gly1803=) c.4870G= (p.Gly1624=) c.3030G= c.1017G= n.635G= c.5332G= (p.Gly1778=) c.5392G= (p.Gly1798=) c.5347G= (p.Gly1783=) c.5428G= (p.Gly1810=) c.5383G= (p.Gly1795=) c.5368G= (p.Gly1790=) | |
9 | g.128617689G>T | CA375076057 | SPTAN1 | c.5443G>T (p.Gly1815Cys) c.5407G>T (p.Gly1803Cys) c.4870G>T (p.Gly1624Cys) c.3030G>T c.1017G>T n.635G>T c.5332G>T (p.Gly1778Cys) c.5392G>T (p.Gly1798Cys) c.5347G>T (p.Gly1783Cys) c.5428G>T (p.Gly1810Cys) c.5383G>T (p.Gly1795Cys) c.5368G>T (p.Gly1790Cys) | |
9 | g.128617690G>A | CA375076059 | SPTAN1 | c.5444G>A (p.Gly1815Asp) c.5408G>A (p.Gly1803Asp) c.4871G>A (p.Gly1624Asp) c.3031G>A c.1018G>A n.636G>A c.5333G>A (p.Gly1778Asp) c.5393G>A (p.Gly1798Asp) c.5348G>A (p.Gly1783Asp) c.5429G>A (p.Gly1810Asp) c.5384G>A (p.Gly1795Asp) c.5369G>A (p.Gly1790Asp) | |
9 | g.128617690G>C | CA375076062 | SPTAN1 | c.5444G>C (p.Gly1815Ala) c.5408G>C (p.Gly1803Ala) c.4871G>C (p.Gly1624Ala) c.3031G>C c.1018G>C n.636G>C c.5333G>C (p.Gly1778Ala) c.5393G>C (p.Gly1798Ala) c.5348G>C (p.Gly1783Ala) c.5429G>C (p.Gly1810Ala) c.5384G>C (p.Gly1795Ala) c.5369G>C (p.Gly1790Ala) | |
9 | g.128617690G>T | CA375076067 | SPTAN1 | c.5444G>T (p.Gly1815Val) c.5408G>T (p.Gly1803Val) c.4871G>T (p.Gly1624Val) c.3031G>T c.1018G>T n.636G>T c.5333G>T (p.Gly1778Val) c.5393G>T (p.Gly1798Val) c.5348G>T (p.Gly1783Val) c.5429G>T (p.Gly1810Val) c.5384G>T (p.Gly1795Val) c.5369G>T (p.Gly1790Val) | |
9 | g.128617691C>A | CA467303770 | SPTAN1 | c.5445C>A (p.Gly1815=) c.5409C>A (p.Gly1803=) c.4872C>A (p.Gly1624=) c.3032C>A c.1019C>A n.637C>A c.5334C>A (p.Gly1778=) c.5394C>A (p.Gly1798=) c.5349C>A (p.Gly1783=) c.5430C>A (p.Gly1810=) c.5385C>A (p.Gly1795=) c.5370C>A (p.Gly1790=) | gnomAD v4 |
9 | g.128617691C= | CA1880364183 | SPTAN1 | c.5445C= (p.Gly1815=) c.5409C= (p.Gly1803=) c.4872C= (p.Gly1624=) c.3032C= c.1019C= n.637C= c.5334C= (p.Gly1778=) c.5394C= (p.Gly1798=) c.5349C= (p.Gly1783=) c.5430C= (p.Gly1810=) c.5385C= (p.Gly1795=) c.5370C= (p.Gly1790=) | |
9 | g.128617691C>G | CA467303771 | SPTAN1 | c.5445C>G (p.Gly1815=) c.5409C>G (p.Gly1803=) c.4872C>G (p.Gly1624=) c.3032C>G c.1019C>G n.637C>G c.5334C>G (p.Gly1778=) c.5394C>G (p.Gly1798=) c.5349C>G (p.Gly1783=) c.5430C>G (p.Gly1810=) c.5385C>G (p.Gly1795=) c.5370C>G (p.Gly1790=) | |
9 | g.128617691C>T | CA5265452 | SPTAN1 | c.5445C>T (p.Gly1815=) c.5409C>T (p.Gly1803=) c.4872C>T (p.Gly1624=) c.3032C>T c.1019C>T n.637C>T c.5334C>T (p.Gly1778=) c.5394C>T (p.Gly1798=) c.5349C>T (p.Gly1783=) c.5430C>T (p.Gly1810=) c.5385C>T (p.Gly1795=) c.5370C>T (p.Gly1790=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.128617692G>A | CA375076073 | SPTAN1 | c.5446G>A (p.Val1816Met) c.5410G>A (p.Val1804Met) c.4873G>A (p.Val1625Met) c.3033G>A c.1020G>A n.638G>A c.5335G>A (p.Val1779Met) c.5395G>A (p.Val1799Met) c.5350G>A (p.Val1784Met) c.5431G>A (p.Val1811Met) c.5386G>A (p.Val1796Met) c.5371G>A (p.Val1791Met) | ClinVar gnomAD v4 |
9 | g.128617692G>C | CA375076077 | SPTAN1 | c.5446G>C (p.Val1816Leu) c.5410G>C (p.Val1804Leu) c.4873G>C (p.Val1625Leu) c.3033G>C c.1020G>C n.638G>C c.5335G>C (p.Val1779Leu) c.5395G>C (p.Val1799Leu) c.5350G>C (p.Val1784Leu) c.5431G>C (p.Val1811Leu) c.5386G>C (p.Val1796Leu) c.5371G>C (p.Val1791Leu) | |
9 | g.128617692G>T | CA375076079 | SPTAN1 | c.5446G>T (p.Val1816Leu) c.5410G>T (p.Val1804Leu) c.4873G>T (p.Val1625Leu) c.3033G>T c.1020G>T n.638G>T c.5335G>T (p.Val1779Leu) c.5395G>T (p.Val1799Leu) c.5350G>T (p.Val1784Leu) c.5431G>T (p.Val1811Leu) c.5386G>T (p.Val1796Leu) c.5371G>T (p.Val1791Leu) | |
9 | g.128617693T>A | CA375076083 | SPTAN1 | c.5447T>A (p.Val1816Glu) c.5411T>A (p.Val1804Glu) c.4874T>A (p.Val1625Glu) c.3034T>A c.1021T>A n.639T>A c.5336T>A (p.Val1779Glu) c.5396T>A (p.Val1799Glu) c.5351T>A (p.Val1784Glu) c.5432T>A (p.Val1811Glu) c.5387T>A (p.Val1796Glu) c.5372T>A (p.Val1791Glu) | |
9 | g.128617693T>C | CA375076092 | SPTAN1 | c.5447T>C (p.Val1816Ala) c.5411T>C (p.Val1804Ala) c.4874T>C (p.Val1625Ala) c.3034T>C c.1021T>C n.639T>C c.5336T>C (p.Val1779Ala) c.5396T>C (p.Val1799Ala) c.5351T>C (p.Val1784Ala) c.5432T>C (p.Val1811Ala) c.5387T>C (p.Val1796Ala) c.5372T>C (p.Val1791Ala) | |
9 | g.128617693T>G | CA375076089 | SPTAN1 | c.5447T>G (p.Val1816Gly) c.5411T>G (p.Val1804Gly) c.4874T>G (p.Val1625Gly) c.3034T>G c.1021T>G n.639T>G c.5336T>G (p.Val1779Gly) c.5396T>G (p.Val1799Gly) c.5351T>G (p.Val1784Gly) c.5432T>G (p.Val1811Gly) c.5387T>G (p.Val1796Gly) c.5372T>G (p.Val1791Gly) | |
9 | g.128617694G>A | CA467303772 | SPTAN1 | c.5448G>A (p.Val1816=) c.5412G>A (p.Val1804=) c.4875G>A (p.Val1625=) c.3035G>A c.1022G>A n.640G>A c.5337G>A (p.Val1779=) c.5397G>A (p.Val1799=) c.5352G>A (p.Val1784=) c.5433G>A (p.Val1811=) c.5388G>A (p.Val1796=) c.5373G>A (p.Val1791=) | |
9 | g.128617694G>C | CA467303774 | SPTAN1 | c.5448G>C (p.Val1816=) c.5412G>C (p.Val1804=) c.4875G>C (p.Val1625=) c.3035G>C c.1022G>C n.640G>C c.5337G>C (p.Val1779=) c.5397G>C (p.Val1799=) c.5352G>C (p.Val1784=) c.5433G>C (p.Val1811=) c.5388G>C (p.Val1796=) c.5373G>C (p.Val1791=) | |
9 | g.128617694G>T | CA467303773 | SPTAN1 | c.5448G>T (p.Val1816=) c.5412G>T (p.Val1804=) c.4875G>T (p.Val1625=) c.3035G>T c.1022G>T n.640G>T c.5337G>T (p.Val1779=) c.5397G>T (p.Val1799=) c.5352G>T (p.Val1784=) c.5433G>T (p.Val1811=) c.5388G>T (p.Val1796=) c.5373G>T (p.Val1791=) | |
9 | g.128617695C>A | CA375076096 | SPTAN1 | c.5449C>A (p.Gln1817Lys) c.5413C>A (p.Gln1805Lys) c.4876C>A (p.Gln1626Lys) c.3036C>A c.1023C>A n.641C>A c.5338C>A (p.Gln1780Lys) c.5398C>A (p.Gln1800Lys) c.5353C>A (p.Gln1785Lys) c.5434C>A (p.Gln1812Lys) c.5389C>A (p.Gln1797Lys) c.5374C>A (p.Gln1792Lys) | dbSNP |
9 | g.128617695C= | CA1880364184 | SPTAN1 | c.5449C= (p.Gln1817=) c.5413C= (p.Gln1805=) c.4876C= (p.Gln1626=) c.3036C= c.1023C= n.641C= c.5338C= (p.Gln1780=) c.5398C= (p.Gln1800=) c.5353C= (p.Gln1785=) c.5434C= (p.Gln1812=) c.5389C= (p.Gln1797=) c.5374C= (p.Gln1792=) | |
9 | g.128617695C>G | CA375076100 | SPTAN1 | c.5449C>G (p.Gln1817Glu) c.5413C>G (p.Gln1805Glu) c.4876C>G (p.Gln1626Glu) c.3036C>G c.1023C>G n.641C>G c.5338C>G (p.Gln1780Glu) c.5398C>G (p.Gln1800Glu) c.5353C>G (p.Gln1785Glu) c.5434C>G (p.Gln1812Glu) c.5389C>G (p.Gln1797Glu) c.5374C>G (p.Gln1792Glu) | |
9 | g.128617695C>T | CA375076102 | SPTAN1 | c.5449C>T (p.Gln1817Ter) c.5413C>T (p.Gln1805Ter) c.4876C>T (p.Gln1626Ter) c.3036C>T c.1023C>T n.641C>T c.5338C>T (p.Gln1780Ter) c.5398C>T (p.Gln1800Ter) c.5353C>T (p.Gln1785Ter) c.5434C>T (p.Gln1812Ter) c.5389C>T (p.Gln1797Ter) c.5374C>T (p.Gln1792Ter) | |
9 | g.128617696A>C | CA375076107 | SPTAN1 | c.5450A>C (p.Gln1817Pro) c.5414A>C (p.Gln1805Pro) c.4877A>C (p.Gln1626Pro) c.3037A>C c.1024A>C n.642A>C c.5339A>C (p.Gln1780Pro) c.5399A>C (p.Gln1800Pro) c.5354A>C (p.Gln1785Pro) c.5435A>C (p.Gln1812Pro) c.5390A>C (p.Gln1797Pro) c.5375A>C (p.Gln1792Pro) | |
9 | g.128617696A>G | CA375076110 | SPTAN1 | c.5450A>G (p.Gln1817Arg) c.5414A>G (p.Gln1805Arg) c.4877A>G (p.Gln1626Arg) c.3037A>G c.1024A>G n.642A>G c.5339A>G (p.Gln1780Arg) c.5399A>G (p.Gln1800Arg) c.5354A>G (p.Gln1785Arg) c.5435A>G (p.Gln1812Arg) c.5390A>G (p.Gln1797Arg) c.5375A>G (p.Gln1792Arg) | |
9 | g.128617696A>T | CA375076117 | SPTAN1 | c.5450A>T (p.Gln1817Leu) c.5414A>T (p.Gln1805Leu) c.4877A>T (p.Gln1626Leu) c.3037A>T c.1024A>T n.642A>T c.5339A>T (p.Gln1780Leu) c.5399A>T (p.Gln1800Leu) c.5354A>T (p.Gln1785Leu) c.5435A>T (p.Gln1812Leu) c.5390A>T (p.Gln1797Leu) c.5375A>T (p.Gln1792Leu) | |
9 | g.128617697G>A | CA293743 | SPTAN1 | c.5451G>A (p.Gln1817=) c.5415G>A (p.Gln1805=) c.4878G>A (p.Gln1626=) c.3038G>A c.1025G>A n.643G>A c.5340G>A (p.Gln1780=) c.5400G>A (p.Gln1800=) c.5355G>A (p.Gln1785=) c.5436G>A (p.Gln1812=) c.5391G>A (p.Gln1797=) c.5376G>A (p.Gln1792=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.128617697G>C | CA375076129 | SPTAN1 | c.5451G>C (p.Gln1817His) c.5415G>C (p.Gln1805His) c.4878G>C (p.Gln1626His) c.3038G>C c.1025G>C n.643G>C c.5340G>C (p.Gln1780His) c.5400G>C (p.Gln1800His) c.5355G>C (p.Gln1785His) c.5436G>C (p.Gln1812His) c.5391G>C (p.Gln1797His) c.5376G>C (p.Gln1792His) | |
9 | g.128617697G= | CA1880364185 | SPTAN1 | c.5451G= (p.Gln1817=) c.5415G= (p.Gln1805=) c.4878G= (p.Gln1626=) c.3038G= c.1025G= n.643G= c.5340G= (p.Gln1780=) c.5400G= (p.Gln1800=) c.5355G= (p.Gln1785=) c.5436G= (p.Gln1812=) c.5391G= (p.Gln1797=) c.5376G= (p.Gln1792=) | |
9 | g.128617697G>T | CA375076131 | SPTAN1 | c.5451G>T (p.Gln1817His) c.5415G>T (p.Gln1805His) c.4878G>T (p.Gln1626His) c.3038G>T c.1025G>T n.643G>T c.5340G>T (p.Gln1780His) c.5400G>T (p.Gln1800His) c.5355G>T (p.Gln1785His) c.5436G>T (p.Gln1812His) c.5391G>T (p.Gln1797His) c.5376G>T (p.Gln1792His) | |
9 | g.128617698A>C | CA375076139 | SPTAN1 | c.5452A>C (p.Asn1818His) c.5416A>C (p.Asn1806His) c.4879A>C (p.Asn1627His) c.3039A>C c.1026A>C n.644A>C c.5341A>C (p.Asn1781His) c.5401A>C (p.Asn1801His) c.5356A>C (p.Asn1786His) c.5437A>C (p.Asn1813His) c.5392A>C (p.Asn1798His) c.5377A>C (p.Asn1793His) | |
9 | g.128617698A>G | CA375076138 | SPTAN1 | c.5452A>G (p.Asn1818Asp) c.5416A>G (p.Asn1806Asp) c.4879A>G (p.Asn1627Asp) c.3039A>G c.1026A>G n.644A>G c.5341A>G (p.Asn1781Asp) c.5401A>G (p.Asn1801Asp) c.5356A>G (p.Asn1786Asp) c.5437A>G (p.Asn1813Asp) c.5392A>G (p.Asn1798Asp) c.5377A>G (p.Asn1793Asp) | |
9 | g.128617698A>T | CA375076135 | SPTAN1 | c.5452A>T (p.Asn1818Tyr) c.5416A>T (p.Asn1806Tyr) c.4879A>T (p.Asn1627Tyr) c.3039A>T c.1026A>T n.644A>T c.5341A>T (p.Asn1781Tyr) c.5401A>T (p.Asn1801Tyr) c.5356A>T (p.Asn1786Tyr) c.5437A>T (p.Asn1813Tyr) c.5392A>T (p.Asn1798Tyr) c.5377A>T (p.Asn1793Tyr) | |
9 | g.128617699A>C | CA375076142 | SPTAN1 | c.5453A>C (p.Asn1818Thr) c.5417A>C (p.Asn1806Thr) c.4880A>C (p.Asn1627Thr) c.3040A>C c.1027A>C n.645A>C c.5342A>C (p.Asn1781Thr) c.5402A>C (p.Asn1801Thr) c.5357A>C (p.Asn1786Thr) c.5438A>C (p.Asn1813Thr) c.5393A>C (p.Asn1798Thr) c.5378A>C (p.Asn1793Thr) | |
9 | g.128617699A>G | CA375076144 | SPTAN1 | c.5453A>G (p.Asn1818Ser) c.5417A>G (p.Asn1806Ser) c.4880A>G (p.Asn1627Ser) c.3040A>G c.1027A>G n.645A>G c.5342A>G (p.Asn1781Ser) c.5402A>G (p.Asn1801Ser) c.5357A>G (p.Asn1786Ser) c.5438A>G (p.Asn1813Ser) c.5393A>G (p.Asn1798Ser) c.5378A>G (p.Asn1793Ser) | |
9 | g.128617699A>T | CA375076146 | SPTAN1 | c.5453A>T (p.Asn1818Ile) c.5417A>T (p.Asn1806Ile) c.4880A>T (p.Asn1627Ile) c.3040A>T c.1027A>T n.645A>T c.5342A>T (p.Asn1781Ile) c.5402A>T (p.Asn1801Ile) c.5357A>T (p.Asn1786Ile) c.5438A>T (p.Asn1813Ile) c.5393A>T (p.Asn1798Ile) c.5378A>T (p.Asn1793Ile) | |
9 | g.128617700C>A | CA375076147 | SPTAN1 | c.5454C>A (p.Asn1818Lys) c.5418C>A (p.Asn1806Lys) c.4881C>A (p.Asn1627Lys) c.3041C>A c.1028C>A n.646C>A c.5343C>A (p.Asn1781Lys) c.5403C>A (p.Asn1801Lys) c.5358C>A (p.Asn1786Lys) c.5439C>A (p.Asn1813Lys) c.5394C>A (p.Asn1798Lys) c.5379C>A (p.Asn1793Lys) | |
9 | g.128617700C= | CA1880364186 | SPTAN1 | c.5454C= (p.Asn1818=) c.5418C= (p.Asn1806=) c.4881C= (p.Asn1627=) c.3041C= c.1028C= n.646C= c.5343C= (p.Asn1781=) c.5403C= (p.Asn1801=) c.5358C= (p.Asn1786=) c.5439C= (p.Asn1813=) c.5394C= (p.Asn1798=) c.5379C= (p.Asn1793=) | |
9 | g.128617700C>G | CA375076148 | SPTAN1 | c.5454C>G (p.Asn1818Lys) c.5418C>G (p.Asn1806Lys) c.4881C>G (p.Asn1627Lys) c.3041C>G c.1028C>G n.646C>G c.5343C>G (p.Asn1781Lys) c.5403C>G (p.Asn1801Lys) c.5358C>G (p.Asn1786Lys) c.5439C>G (p.Asn1813Lys) c.5394C>G (p.Asn1798Lys) c.5379C>G (p.Asn1793Lys) | |
9 | g.128617700C>T | CA5265453 | SPTAN1 | c.5454C>T (p.Asn1818=) c.5418C>T (p.Asn1806=) c.4881C>T (p.Asn1627=) c.3041C>T c.1028C>T n.646C>T c.5343C>T (p.Asn1781=) c.5403C>T (p.Asn1801=) c.5358C>T (p.Asn1786=) c.5439C>T (p.Asn1813=) c.5394C>T (p.Asn1798=) c.5379C>T (p.Asn1793=) | dbSNP ExAC gnomAD v2 |
9 | g.128617701C>A | CA375076150 | SPTAN1 | c.5455C>A (p.Leu1819Met) c.5419C>A (p.Leu1807Met) c.4882C>A (p.Leu1628Met) c.3042C>A c.1029C>A n.647C>A c.5344C>A (p.Leu1782Met) c.5404C>A (p.Leu1802Met) c.5359C>A (p.Leu1787Met) c.5440C>A (p.Leu1814Met) c.5395C>A (p.Leu1799Met) c.5380C>A (p.Leu1794Met) | |
9 | g.128617701C>G | CA375076151 | SPTAN1 | c.5455C>G (p.Leu1819Val) c.5419C>G (p.Leu1807Val) c.4882C>G (p.Leu1628Val) c.3042C>G c.1029C>G n.647C>G c.5344C>G (p.Leu1782Val) c.5404C>G (p.Leu1802Val) c.5359C>G (p.Leu1787Val) c.5440C>G (p.Leu1814Val) c.5395C>G (p.Leu1799Val) c.5380C>G (p.Leu1794Val) | |
9 | g.128617701C>T | CA467303775 | SPTAN1 | c.5455C>T (p.Leu1819=) c.5419C>T (p.Leu1807=) c.4882C>T (p.Leu1628=) c.3042C>T c.1029C>T n.647C>T c.5344C>T (p.Leu1782=) c.5404C>T (p.Leu1802=) c.5359C>T (p.Leu1787=) c.5440C>T (p.Leu1814=) c.5395C>T (p.Leu1799=) c.5380C>T (p.Leu1794=) | |
9 | g.128617702T>A | CA375076153 | SPTAN1 | c.5456T>A (p.Leu1819Gln) c.5420T>A (p.Leu1807Gln) c.4883T>A (p.Leu1628Gln) c.3043T>A c.1030T>A n.648T>A c.5345T>A (p.Leu1782Gln) c.5405T>A (p.Leu1802Gln) c.5360T>A (p.Leu1787Gln) c.5441T>A (p.Leu1814Gln) c.5396T>A (p.Leu1799Gln) c.5381T>A (p.Leu1794Gln) | |
9 | g.128617702T>C | CA375076154 | SPTAN1 | c.5456T>C (p.Leu1819Pro) c.5420T>C (p.Leu1807Pro) c.4883T>C (p.Leu1628Pro) c.3043T>C c.1030T>C n.648T>C c.5345T>C (p.Leu1782Pro) c.5405T>C (p.Leu1802Pro) c.5360T>C (p.Leu1787Pro) c.5441T>C (p.Leu1814Pro) c.5396T>C (p.Leu1799Pro) c.5381T>C (p.Leu1794Pro) | |
9 | g.128617702T>G | CA375076156 | SPTAN1 | c.5456T>G (p.Leu1819Arg) c.5420T>G (p.Leu1807Arg) c.4883T>G (p.Leu1628Arg) c.3043T>G c.1030T>G n.648T>G c.5345T>G (p.Leu1782Arg) c.5405T>G (p.Leu1802Arg) c.5360T>G (p.Leu1787Arg) c.5441T>G (p.Leu1814Arg) c.5396T>G (p.Leu1799Arg) c.5381T>G (p.Leu1794Arg) | |
9 | g.128617703G>A | CA467303776 | SPTAN1 | c.5457G>A (p.Leu1819=) c.5421G>A (p.Leu1807=) c.4884G>A (p.Leu1628=) c.3044G>A c.1031G>A n.649G>A c.5346G>A (p.Leu1782=) c.5406G>A (p.Leu1802=) c.5361G>A (p.Leu1787=) c.5442G>A (p.Leu1814=) c.5397G>A (p.Leu1799=) c.5382G>A (p.Leu1794=) | dbSNP gnomAD v4 |
9 | g.128617703G>C | CA467303777 | SPTAN1 | c.5457G>C (p.Leu1819=) c.5421G>C (p.Leu1807=) c.4884G>C (p.Leu1628=) c.3044G>C c.1031G>C n.649G>C c.5346G>C (p.Leu1782=) c.5406G>C (p.Leu1802=) c.5361G>C (p.Leu1787=) c.5442G>C (p.Leu1814=) c.5397G>C (p.Leu1799=) c.5382G>C (p.Leu1794=) | |
9 | g.128617703G= | CA1880364187 | SPTAN1 | c.5457G= (p.Leu1819=) c.5421G= (p.Leu1807=) c.4884G= (p.Leu1628=) c.3044G= c.1031G= n.649G= c.5346G= (p.Leu1782=) c.5406G= (p.Leu1802=) c.5361G= (p.Leu1787=) c.5442G= (p.Leu1814=) c.5397G= (p.Leu1799=) c.5382G= (p.Leu1794=) | |
9 | g.128617703G>T | CA467303778 | SPTAN1 | c.5457G>T (p.Leu1819=) c.5421G>T (p.Leu1807=) c.4884G>T (p.Leu1628=) c.3044G>T c.1031G>T n.649G>T c.5346G>T (p.Leu1782=) c.5406G>T (p.Leu1802=) c.5361G>T (p.Leu1787=) c.5442G>T (p.Leu1814=) c.5397G>T (p.Leu1799=) c.5382G>T (p.Leu1794=) | |
9 | g.128617704A>C | CA467303779 | SPTAN1 | c.5458A>C (p.Arg1820=) c.5422A>C (p.Arg1808=) c.4885A>C (p.Arg1629=) c.3045A>C c.1032A>C n.650A>C c.5347A>C (p.Arg1783=) c.5407A>C (p.Arg1803=) c.5362A>C (p.Arg1788=) c.5443A>C (p.Arg1815=) c.5398A>C (p.Arg1800=) c.5383A>C (p.Arg1795=) | |
9 | g.128617704A>G | CA375076159 | SPTAN1 | c.5458A>G (p.Arg1820Gly) c.5422A>G (p.Arg1808Gly) c.4885A>G (p.Arg1629Gly) c.3045A>G c.1032A>G n.650A>G c.5347A>G (p.Arg1783Gly) c.5407A>G (p.Arg1803Gly) c.5362A>G (p.Arg1788Gly) c.5443A>G (p.Arg1815Gly) c.5398A>G (p.Arg1800Gly) c.5383A>G (p.Arg1795Gly) | |
9 | g.128617704A>T | CA375076162 | SPTAN1 | c.5458A>T (p.Arg1820Trp) c.5422A>T (p.Arg1808Trp) c.4885A>T (p.Arg1629Trp) c.3045A>T c.1032A>T n.650A>T c.5347A>T (p.Arg1783Trp) c.5407A>T (p.Arg1803Trp) c.5362A>T (p.Arg1788Trp) c.5443A>T (p.Arg1815Trp) c.5398A>T (p.Arg1800Trp) c.5383A>T (p.Arg1795Trp) | |
9 | g.128617705G>A | CA375076167 | SPTAN1 | c.5459G>A (p.Arg1820Lys) c.5423G>A (p.Arg1808Lys) c.4886G>A (p.Arg1629Lys) c.3046G>A c.1033G>A n.651G>A c.5348G>A (p.Arg1783Lys) c.5408G>A (p.Arg1803Lys) c.5363G>A (p.Arg1788Lys) c.5444G>A (p.Arg1815Lys) c.5399G>A (p.Arg1800Lys) c.5384G>A (p.Arg1795Lys) | ClinVar dbSNP |
9 | g.128617705G>C | CA375076177 | SPTAN1 | c.5459G>C (p.Arg1820Thr) c.5423G>C (p.Arg1808Thr) c.4886G>C (p.Arg1629Thr) c.3046G>C c.1033G>C n.651G>C c.5348G>C (p.Arg1783Thr) c.5408G>C (p.Arg1803Thr) c.5363G>C (p.Arg1788Thr) c.5444G>C (p.Arg1815Thr) c.5399G>C (p.Arg1800Thr) c.5384G>C (p.Arg1795Thr) | |
9 | g.128617705G>T | CA375076176 | SPTAN1 | c.5459G>T (p.Arg1820Met) c.5423G>T (p.Arg1808Met) c.4886G>T (p.Arg1629Met) c.3046G>T c.1033G>T n.651G>T c.5348G>T (p.Arg1783Met) c.5408G>T (p.Arg1803Met) c.5363G>T (p.Arg1788Met) c.5444G>T (p.Arg1815Met) c.5399G>T (p.Arg1800Met) c.5384G>T (p.Arg1795Met) | |
9 | g.128617706G>A | CA467303780 | SPTAN1 | c.5460G>A (p.Arg1820=) c.5424G>A (p.Arg1808=) c.4887G>A (p.Arg1629=) c.3047G>A c.1034G>A n.652G>A c.5349G>A (p.Arg1783=) c.5409G>A (p.Arg1803=) c.5364G>A (p.Arg1788=) c.5445G>A (p.Arg1815=) c.5400G>A (p.Arg1800=) c.5385G>A (p.Arg1795=) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.128617706G>C | CA375076197 | SPTAN1 | c.5460G>C (p.Arg1820Ser) c.5424G>C (p.Arg1808Ser) c.4887G>C (p.Arg1629Ser) c.3047G>C c.1034G>C n.652G>C c.5349G>C (p.Arg1783Ser) c.5409G>C (p.Arg1803Ser) c.5364G>C (p.Arg1788Ser) c.5445G>C (p.Arg1815Ser) c.5400G>C (p.Arg1800Ser) c.5385G>C (p.Arg1795Ser) | |
9 | g.128617706G= | CA1880364188 | SPTAN1 | c.5460G= (p.Arg1820=) c.5424G= (p.Arg1808=) c.4887G= (p.Arg1629=) c.3047G= c.1034G= n.652G= c.5349G= (p.Arg1783=) c.5409G= (p.Arg1803=) c.5364G= (p.Arg1788=) c.5445G= (p.Arg1815=) c.5400G= (p.Arg1800=) c.5385G= (p.Arg1795=) | |
9 | g.128617706G>T | CA375076199 | SPTAN1 | c.5460G>T (p.Arg1820Ser) c.5424G>T (p.Arg1808Ser) c.4887G>T (p.Arg1629Ser) c.3047G>T c.1034G>T n.652G>T c.5349G>T (p.Arg1783Ser) c.5409G>T (p.Arg1803Ser) c.5364G>T (p.Arg1788Ser) c.5445G>T (p.Arg1815Ser) c.5400G>T (p.Arg1800Ser) c.5385G>T (p.Arg1795Ser) | |
9 | g.128617707A>C | CA375076202 | SPTAN1 | c.5461A>C (p.Lys1821Gln) c.5425A>C (p.Lys1809Gln) c.4888A>C (p.Lys1630Gln) c.3048A>C c.1035A>C n.653A>C c.5350A>C (p.Lys1784Gln) c.5410A>C (p.Lys1804Gln) c.5365A>C (p.Lys1789Gln) c.5446A>C (p.Lys1816Gln) c.5401A>C (p.Lys1801Gln) c.5386A>C (p.Lys1796Gln) | |
9 | g.128617707A>G | CA375076205 | SPTAN1 | c.5461A>G (p.Lys1821Glu) c.5425A>G (p.Lys1809Glu) c.4888A>G (p.Lys1630Glu) c.3048A>G c.1035A>G n.653A>G c.5350A>G (p.Lys1784Glu) c.5410A>G (p.Lys1804Glu) c.5365A>G (p.Lys1789Glu) c.5446A>G (p.Lys1816Glu) c.5401A>G (p.Lys1801Glu) c.5386A>G (p.Lys1796Glu) | |
9 | g.128617707A>T | CA375076206 | SPTAN1 | c.5461A>T (p.Lys1821Ter) c.5425A>T (p.Lys1809Ter) c.4888A>T (p.Lys1630Ter) c.3048A>T c.1035A>T n.653A>T c.5350A>T (p.Lys1784Ter) c.5410A>T (p.Lys1804Ter) c.5365A>T (p.Lys1789Ter) c.5446A>T (p.Lys1816Ter) c.5401A>T (p.Lys1801Ter) c.5386A>T (p.Lys1796Ter) | ClinVar |
9 | g.128617708A>C | CA375076207 | SPTAN1 | c.5462A>C (p.Lys1821Thr) c.5426A>C (p.Lys1809Thr) c.4889A>C (p.Lys1630Thr) c.3049A>C c.1036A>C n.654A>C c.5351A>C (p.Lys1784Thr) c.5411A>C (p.Lys1804Thr) c.5366A>C (p.Lys1789Thr) c.5447A>C (p.Lys1816Thr) c.5402A>C (p.Lys1801Thr) c.5387A>C (p.Lys1796Thr) | |
9 | g.128617708A>G | CA375076210 | SPTAN1 | c.5462A>G (p.Lys1821Arg) c.5426A>G (p.Lys1809Arg) c.4889A>G (p.Lys1630Arg) c.3049A>G c.1036A>G n.654A>G c.5351A>G (p.Lys1784Arg) c.5411A>G (p.Lys1804Arg) c.5366A>G (p.Lys1789Arg) c.5447A>G (p.Lys1816Arg) c.5402A>G (p.Lys1801Arg) c.5387A>G (p.Lys1796Arg) | |
9 | g.128617708A>T | CA375076212 | SPTAN1 | c.5462A>T (p.Lys1821Met) c.5426A>T (p.Lys1809Met) c.4889A>T (p.Lys1630Met) c.3049A>T c.1036A>T n.654A>T c.5351A>T (p.Lys1784Met) c.5411A>T (p.Lys1804Met) c.5366A>T (p.Lys1789Met) c.5447A>T (p.Lys1816Met) c.5402A>T (p.Lys1801Met) c.5387A>T (p.Lys1796Met) | |
9 | g.128617709G>A | CA467303781 | SPTAN1 | c.5463G>A (p.Lys1821=) c.5427G>A (p.Lys1809=) c.4890G>A (p.Lys1630=) c.3050G>A c.1037G>A n.655G>A c.5352G>A (p.Lys1784=) c.5412G>A (p.Lys1804=) c.5367G>A (p.Lys1789=) c.5448G>A (p.Lys1816=) c.5403G>A (p.Lys1801=) c.5388G>A (p.Lys1796=) | |
9 | g.128617709G>C | CA375076215 | SPTAN1 | c.5463G>C (p.Lys1821Asn) c.5427G>C (p.Lys1809Asn) c.4890G>C (p.Lys1630Asn) c.3050G>C c.1037G>C n.655G>C c.5352G>C (p.Lys1784Asn) c.5412G>C (p.Lys1804Asn) c.5367G>C (p.Lys1789Asn) c.5448G>C (p.Lys1816Asn) c.5403G>C (p.Lys1801Asn) c.5388G>C (p.Lys1796Asn) | |
9 | g.128617709G>T | CA375076217 | SPTAN1 | c.5463G>T (p.Lys1821Asn) c.5427G>T (p.Lys1809Asn) c.4890G>T (p.Lys1630Asn) c.3050G>T c.1037G>T n.655G>T c.5352G>T (p.Lys1784Asn) c.5412G>T (p.Lys1804Asn) c.5367G>T (p.Lys1789Asn) c.5448G>T (p.Lys1816Asn) c.5403G>T (p.Lys1801Asn) c.5388G>T (p.Lys1796Asn) | COSMIC COSMIC |
9 | g.128617710A>C | CA375076225 | SPTAN1 | c.5464A>C (p.Lys1822Gln) c.5428A>C (p.Lys1810Gln) c.4891A>C (p.Lys1631Gln) c.3051A>C c.1038A>C n.656A>C c.5353A>C (p.Lys1785Gln) c.5413A>C (p.Lys1805Gln) c.5368A>C (p.Lys1790Gln) c.5449A>C (p.Lys1817Gln) c.5404A>C (p.Lys1802Gln) c.5389A>C (p.Lys1797Gln) | |
9 | g.128617710A>G | CA375076227 | SPTAN1 | c.5464A>G (p.Lys1822Glu) c.5428A>G (p.Lys1810Glu) c.4891A>G (p.Lys1631Glu) c.3051A>G c.1038A>G n.656A>G c.5353A>G (p.Lys1785Glu) c.5413A>G (p.Lys1805Glu) c.5368A>G (p.Lys1790Glu) c.5449A>G (p.Lys1817Glu) c.5404A>G (p.Lys1802Glu) c.5389A>G (p.Lys1797Glu) | |
9 | g.128617710A>T | CA375076222 | SPTAN1 | c.5464A>T (p.Lys1822Ter) c.5428A>T (p.Lys1810Ter) c.4891A>T (p.Lys1631Ter) c.3051A>T c.1038A>T n.656A>T c.5353A>T (p.Lys1785Ter) c.5413A>T (p.Lys1805Ter) c.5368A>T (p.Lys1790Ter) c.5449A>T (p.Lys1817Ter) c.5404A>T (p.Lys1802Ter) c.5389A>T (p.Lys1797Ter) | |
9 | g.128617711A>C | CA375076236 | SPTAN1 | c.5465A>C (p.Lys1822Thr) c.5429A>C (p.Lys1810Thr) c.4892A>C (p.Lys1631Thr) c.3052A>C c.1039A>C n.657A>C c.5354A>C (p.Lys1785Thr) c.5414A>C (p.Lys1805Thr) c.5369A>C (p.Lys1790Thr) c.5450A>C (p.Lys1817Thr) c.5405A>C (p.Lys1802Thr) c.5390A>C (p.Lys1797Thr) | |
9 | g.128617711A>G | CA375076232 | SPTAN1 | c.5465A>G (p.Lys1822Arg) c.5429A>G (p.Lys1810Arg) c.4892A>G (p.Lys1631Arg) c.3052A>G c.1039A>G n.657A>G c.5354A>G (p.Lys1785Arg) c.5414A>G (p.Lys1805Arg) c.5369A>G (p.Lys1790Arg) c.5450A>G (p.Lys1817Arg) c.5405A>G (p.Lys1802Arg) c.5390A>G (p.Lys1797Arg) | |
9 | g.128617711A>T | CA375076233 | SPTAN1 | c.5465A>T (p.Lys1822Met) c.5429A>T (p.Lys1810Met) c.4892A>T (p.Lys1631Met) c.3052A>T c.1039A>T n.657A>T c.5354A>T (p.Lys1785Met) c.5414A>T (p.Lys1805Met) c.5369A>T (p.Lys1790Met) c.5450A>T (p.Lys1817Met) c.5405A>T (p.Lys1802Met) c.5390A>T (p.Lys1797Met) | |
9 | g.128617712G>A | CA467303782 | SPTAN1 | c.5466G>A (p.Lys1822=) c.5430G>A (p.Lys1810=) c.4893G>A (p.Lys1631=) c.3053G>A c.1040G>A n.658G>A c.5355G>A (p.Lys1785=) c.5415G>A (p.Lys1805=) c.5370G>A (p.Lys1790=) c.5451G>A (p.Lys1817=) c.5406G>A (p.Lys1802=) c.5391G>A (p.Lys1797=) | |
9 | g.128617712G>C | CA375076240 | SPTAN1 | c.5466G>C (p.Lys1822Asn) c.5430G>C (p.Lys1810Asn) c.4893G>C (p.Lys1631Asn) c.3053G>C c.1040G>C n.658G>C c.5355G>C (p.Lys1785Asn) c.5415G>C (p.Lys1805Asn) c.5370G>C (p.Lys1790Asn) c.5451G>C (p.Lys1817Asn) c.5406G>C (p.Lys1802Asn) c.5391G>C (p.Lys1797Asn) | |
9 | g.128617712G>T | CA375076243 | SPTAN1 | c.5466G>T (p.Lys1822Asn) c.5430G>T (p.Lys1810Asn) c.4893G>T (p.Lys1631Asn) c.3053G>T c.1040G>T n.658G>T c.5355G>T (p.Lys1785Asn) c.5415G>T (p.Lys1805Asn) c.5370G>T (p.Lys1790Asn) c.5451G>T (p.Lys1817Asn) c.5406G>T (p.Lys1802Asn) c.5391G>T (p.Lys1797Asn) | |
9 | g.128617713C>A | CA375076249 | SPTAN1 | c.5467C>A (p.His1823Asn) c.5431C>A (p.His1811Asn) c.4894C>A (p.His1632Asn) c.3054C>A c.1041C>A n.659C>A c.5356C>A (p.His1786Asn) c.5416C>A (p.His1806Asn) c.5371C>A (p.His1791Asn) c.5452C>A (p.His1818Asn) c.5407C>A (p.His1803Asn) c.5392C>A (p.His1798Asn) | |
9 | g.128617713C>G | CA375076254 | SPTAN1 | c.5467C>G (p.His1823Asp) c.5431C>G (p.His1811Asp) c.4894C>G (p.His1632Asp) c.3054C>G c.1041C>G n.659C>G c.5356C>G (p.His1786Asp) c.5416C>G (p.His1806Asp) c.5371C>G (p.His1791Asp) c.5452C>G (p.His1818Asp) c.5407C>G (p.His1803Asp) c.5392C>G (p.His1798Asp) | |
9 | g.128617713C>T | CA375076256 | SPTAN1 | c.5467C>T (p.His1823Tyr) c.5431C>T (p.His1811Tyr) c.4894C>T (p.His1632Tyr) c.3054C>T c.1041C>T n.659C>T c.5356C>T (p.His1786Tyr) c.5416C>T (p.His1806Tyr) c.5371C>T (p.His1791Tyr) c.5452C>T (p.His1818Tyr) c.5407C>T (p.His1803Tyr) c.5392C>T (p.His1798Tyr) | ClinVar |
9 | g.128617714A>C | CA375076261 | SPTAN1 | c.5468A>C (p.His1823Pro) c.5432A>C (p.His1811Pro) c.4895A>C (p.His1632Pro) c.3055A>C c.1042A>C n.660A>C c.5357A>C (p.His1786Pro) c.5417A>C (p.His1806Pro) c.5372A>C (p.His1791Pro) c.5453A>C (p.His1818Pro) c.5408A>C (p.His1803Pro) c.5393A>C (p.His1798Pro) | |
9 | g.128617714A>G | CA375076262 | SPTAN1 | c.5468A>G (p.His1823Arg) c.5432A>G (p.His1811Arg) c.4895A>G (p.His1632Arg) c.3055A>G c.1042A>G n.660A>G c.5357A>G (p.His1786Arg) c.5417A>G (p.His1806Arg) c.5372A>G (p.His1791Arg) c.5453A>G (p.His1818Arg) c.5408A>G (p.His1803Arg) c.5393A>G (p.His1798Arg) | |
9 | g.128617714A>T | CA375076265 | SPTAN1 | c.5468A>T (p.His1823Leu) c.5432A>T (p.His1811Leu) c.4895A>T (p.His1632Leu) c.3055A>T c.1042A>T n.660A>T c.5357A>T (p.His1786Leu) c.5417A>T (p.His1806Leu) c.5372A>T (p.His1791Leu) c.5453A>T (p.His1818Leu) c.5408A>T (p.His1803Leu) c.5393A>T (p.His1798Leu) | |
9 | g.128617715C>A | CA375076268 | SPTAN1 | c.5469C>A (p.His1823Gln) c.5433C>A (p.His1811Gln) c.4896C>A (p.His1632Gln) c.3056C>A c.1043C>A n.661C>A c.5358C>A (p.His1786Gln) c.5418C>A (p.His1806Gln) c.5373C>A (p.His1791Gln) c.5454C>A (p.His1818Gln) c.5409C>A (p.His1803Gln) c.5394C>A (p.His1798Gln) | dbSNP |
9 | g.128617715C= | CA1880364189 | SPTAN1 | c.5469C= (p.His1823=) c.5433C= (p.His1811=) c.4896C= (p.His1632=) c.3056C= c.1043C= n.661C= c.5358C= (p.His1786=) c.5418C= (p.His1806=) c.5373C= (p.His1791=) c.5454C= (p.His1818=) c.5409C= (p.His1803=) c.5394C= (p.His1798=) | |
9 | g.128617715C>G | CA375076269 | SPTAN1 | c.5469C>G (p.His1823Gln) c.5433C>G (p.His1811Gln) c.4896C>G (p.His1632Gln) c.3056C>G c.1043C>G n.661C>G c.5358C>G (p.His1786Gln) c.5418C>G (p.His1806Gln) c.5373C>G (p.His1791Gln) c.5454C>G (p.His1818Gln) c.5409C>G (p.His1803Gln) c.5394C>G (p.His1798Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
9 | g.128617715C>T | CA5265454 | SPTAN1 | c.5469C>T (p.His1823=) c.5433C>T (p.His1811=) c.4896C>T (p.His1632=) c.3056C>T c.1043C>T n.661C>T c.5358C>T (p.His1786=) c.5418C>T (p.His1806=) c.5373C>T (p.His1791=) c.5454C>T (p.His1818=) c.5409C>T (p.His1803=) c.5394C>T (p.His1798=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.128617716A>C | CA375076287 | SPTAN1 | c.5470A>C (p.Lys1824Gln) c.5434A>C (p.Lys1812Gln) c.4897A>C (p.Lys1633Gln) c.3057A>C c.1044A>C n.662A>C c.5359A>C (p.Lys1787Gln) c.5419A>C (p.Lys1807Gln) c.5374A>C (p.Lys1792Gln) c.5455A>C (p.Lys1819Gln) c.5410A>C (p.Lys1804Gln) c.5395A>C (p.Lys1799Gln) | |
9 | g.128617716A>G | CA375076275 | SPTAN1 | c.5470A>G (p.Lys1824Glu) c.5434A>G (p.Lys1812Glu) c.4897A>G (p.Lys1633Glu) c.3057A>G c.1044A>G n.662A>G c.5359A>G (p.Lys1787Glu) c.5419A>G (p.Lys1807Glu) c.5374A>G (p.Lys1792Glu) c.5455A>G (p.Lys1819Glu) c.5410A>G (p.Lys1804Glu) c.5395A>G (p.Lys1799Glu) | |
9 | g.128617716A>T | CA375076285 | SPTAN1 | c.5470A>T (p.Lys1824Ter) c.5434A>T (p.Lys1812Ter) c.4897A>T (p.Lys1633Ter) c.3057A>T c.1044A>T n.662A>T c.5359A>T (p.Lys1787Ter) c.5419A>T (p.Lys1807Ter) c.5374A>T (p.Lys1792Ter) c.5455A>T (p.Lys1819Ter) c.5410A>T (p.Lys1804Ter) c.5395A>T (p.Lys1799Ter) | |
9 | g.128617717A>C | CA375076291 | SPTAN1 | c.5471A>C (p.Lys1824Thr) c.5435A>C (p.Lys1812Thr) c.4898A>C (p.Lys1633Thr) c.3058A>C c.1045A>C n.663A>C c.5360A>C (p.Lys1787Thr) c.5420A>C (p.Lys1807Thr) c.5375A>C (p.Lys1792Thr) c.5456A>C (p.Lys1819Thr) c.5411A>C (p.Lys1804Thr) c.5396A>C (p.Lys1799Thr) | |
9 | g.128617717A>G | CA375076293 | SPTAN1 | c.5471A>G (p.Lys1824Arg) c.5435A>G (p.Lys1812Arg) c.4898A>G (p.Lys1633Arg) c.3058A>G c.1045A>G n.663A>G c.5360A>G (p.Lys1787Arg) c.5420A>G (p.Lys1807Arg) c.5375A>G (p.Lys1792Arg) c.5456A>G (p.Lys1819Arg) c.5411A>G (p.Lys1804Arg) c.5396A>G (p.Lys1799Arg) | |
9 | g.128617717A>T | CA375076296 | SPTAN1 | c.5471A>T (p.Lys1824Met) c.5435A>T (p.Lys1812Met) c.4898A>T (p.Lys1633Met) c.3058A>T c.1045A>T n.663A>T c.5360A>T (p.Lys1787Met) c.5420A>T (p.Lys1807Met) c.5375A>T (p.Lys1792Met) c.5456A>T (p.Lys1819Met) c.5411A>T (p.Lys1804Met) c.5396A>T (p.Lys1799Met) | |
9 | g.128617718G>A | CA467303783 | SPTAN1 | c.5472G>A (p.Lys1824=) c.5436G>A (p.Lys1812=) c.4899G>A (p.Lys1633=) c.3059G>A c.1046G>A n.664G>A c.5361G>A (p.Lys1787=) c.5421G>A (p.Lys1807=) c.5376G>A (p.Lys1792=) c.5457G>A (p.Lys1819=) c.5412G>A (p.Lys1804=) c.5397G>A (p.Lys1799=) | |
9 | g.128617718G>C | CA375076299 | SPTAN1 | c.5472G>C (p.Lys1824Asn) c.5436G>C (p.Lys1812Asn) c.4899G>C (p.Lys1633Asn) c.3059G>C c.1046G>C n.664G>C c.5361G>C (p.Lys1787Asn) c.5421G>C (p.Lys1807Asn) c.5376G>C (p.Lys1792Asn) c.5457G>C (p.Lys1819Asn) c.5412G>C (p.Lys1804Asn) c.5397G>C (p.Lys1799Asn) | |
9 | g.128617718G>T | CA375076302 | SPTAN1 | c.5472G>T (p.Lys1824Asn) c.5436G>T (p.Lys1812Asn) c.4899G>T (p.Lys1633Asn) c.3059G>T c.1046G>T n.664G>T c.5361G>T (p.Lys1787Asn) c.5421G>T (p.Lys1807Asn) c.5376G>T (p.Lys1792Asn) c.5457G>T (p.Lys1819Asn) c.5412G>T (p.Lys1804Asn) c.5397G>T (p.Lys1799Asn) | |
9 | g.128617719C>A | CA173578 | SPTAN1 | c.5473C>A (p.Arg1825=) c.5437C>A (p.Arg1813=) c.4900C>A (p.Arg1634=) c.3060C>A c.1047C>A n.665C>A c.5362C>A (p.Arg1788=) c.5422C>A (p.Arg1808=) c.5377C>A (p.Arg1793=) c.5458C>A (p.Arg1820=) c.5413C>A (p.Arg1805=) c.5398C>A (p.Arg1800=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.128617719C= | CA1880364190 | SPTAN1 | c.5473C= (p.Arg1825=) c.5437C= (p.Arg1813=) c.4900C= (p.Arg1634=) c.3060C= c.1047C= n.665C= c.5362C= (p.Arg1788=) c.5422C= (p.Arg1808=) c.5377C= (p.Arg1793=) c.5458C= (p.Arg1820=) c.5413C= (p.Arg1805=) c.5398C= (p.Arg1800=) | |
9 | g.128617719C>G | CA375076307 | SPTAN1 | c.5473C>G (p.Arg1825Gly) c.5437C>G (p.Arg1813Gly) c.4900C>G (p.Arg1634Gly) c.3060C>G c.1047C>G n.665C>G c.5362C>G (p.Arg1788Gly) c.5422C>G (p.Arg1808Gly) c.5377C>G (p.Arg1793Gly) c.5458C>G (p.Arg1820Gly) c.5413C>G (p.Arg1805Gly) c.5398C>G (p.Arg1800Gly) | |
9 | g.128617719C>T | CA375076321 | SPTAN1 | c.5473C>T (p.Arg1825Trp) c.5437C>T (p.Arg1813Trp) c.4900C>T (p.Arg1634Trp) c.3060C>T c.1047C>T n.665C>T c.5362C>T (p.Arg1788Trp) c.5422C>T (p.Arg1808Trp) c.5377C>T (p.Arg1793Trp) c.5458C>T (p.Arg1820Trp) c.5413C>T (p.Arg1805Trp) c.5398C>T (p.Arg1800Trp) | ClinVar dbSNP gnomAD v4 |
9 | g.128617720G>A | CA5265455 | SPTAN1 | c.5474G>A (p.Arg1825Gln) c.5438G>A (p.Arg1813Gln) c.4901G>A (p.Arg1634Gln) c.3061G>A c.1048G>A n.666G>A c.5363G>A (p.Arg1788Gln) c.5423G>A (p.Arg1808Gln) c.5378G>A (p.Arg1793Gln) c.5459G>A (p.Arg1820Gln) c.5414G>A (p.Arg1805Gln) c.5399G>A (p.Arg1800Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.128617720G>C | CA375076328 | SPTAN1 | c.5474G>C (p.Arg1825Pro) c.5438G>C (p.Arg1813Pro) c.4901G>C (p.Arg1634Pro) c.3061G>C c.1048G>C n.666G>C c.5363G>C (p.Arg1788Pro) c.5423G>C (p.Arg1808Pro) c.5378G>C (p.Arg1793Pro) c.5459G>C (p.Arg1820Pro) c.5414G>C (p.Arg1805Pro) c.5399G>C (p.Arg1800Pro) | |
9 | g.128617720G= | CA1880364191 | SPTAN1 | c.5474G= (p.Arg1825=) c.5438G= (p.Arg1813=) c.4901G= (p.Arg1634=) c.3061G= c.1048G= n.666G= c.5363G= (p.Arg1788=) c.5423G= (p.Arg1808=) c.5378G= (p.Arg1793=) c.5459G= (p.Arg1820=) c.5414G= (p.Arg1805=) c.5399G= (p.Arg1800=) | |
9 | g.128617720G>T | CA375076331 | SPTAN1 | c.5474G>T (p.Arg1825Leu) c.5438G>T (p.Arg1813Leu) c.4901G>T (p.Arg1634Leu) c.3061G>T c.1048G>T n.666G>T c.5363G>T (p.Arg1788Leu) c.5423G>T (p.Arg1808Leu) c.5378G>T (p.Arg1793Leu) c.5459G>T (p.Arg1820Leu) c.5414G>T (p.Arg1805Leu) c.5399G>T (p.Arg1800Leu) | |
9 | g.128617721G>A | CA467303784 | SPTAN1 | c.5475G>A (p.Arg1825=) c.5439G>A (p.Arg1813=) c.4902G>A (p.Arg1634=) c.3062G>A c.1049G>A n.667G>A c.5364G>A (p.Arg1788=) c.5424G>A (p.Arg1808=) c.5379G>A (p.Arg1793=) c.5460G>A (p.Arg1820=) c.5415G>A (p.Arg1805=) c.5400G>A (p.Arg1800=) | dbSNP |
9 | g.128617721G>C | CA467303785 | SPTAN1 | c.5475G>C (p.Arg1825=) c.5439G>C (p.Arg1813=) c.4902G>C (p.Arg1634=) c.3062G>C c.1049G>C n.667G>C c.5364G>C (p.Arg1788=) c.5424G>C (p.Arg1808=) c.5379G>C (p.Arg1793=) c.5460G>C (p.Arg1820=) c.5415G>C (p.Arg1805=) c.5400G>C (p.Arg1800=) | dbSNP |
9 | g.128617721G= | CA1880364192 | SPTAN1 | c.5475G= (p.Arg1825=) c.5439G= (p.Arg1813=) c.4902G= (p.Arg1634=) c.3062G= c.1049G= n.667G= c.5364G= (p.Arg1788=) c.5424G= (p.Arg1808=) c.5379G= (p.Arg1793=) c.5460G= (p.Arg1820=) c.5415G= (p.Arg1805=) c.5400G= (p.Arg1800=) | |
9 | g.128617721G>T | CA5265456 | SPTAN1 | c.5475G>T (p.Arg1825=) c.5439G>T (p.Arg1813=) c.4902G>T (p.Arg1634=) c.3062G>T c.1049G>T n.667G>T c.5364G>T (p.Arg1788=) c.5424G>T (p.Arg1808=) c.5379G>T (p.Arg1793=) c.5460G>T (p.Arg1820=) c.5415G>T (p.Arg1805=) c.5400G>T (p.Arg1800=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.128617722C>A | CA375076339 | SPTAN1 | c.5476C>A (p.Leu1826Met) c.5440C>A (p.Leu1814Met) c.4903C>A (p.Leu1635Met) c.3063C>A c.1050C>A n.668C>A c.5365C>A (p.Leu1789Met) c.5425C>A (p.Leu1809Met) c.5380C>A (p.Leu1794Met) c.5461C>A (p.Leu1821Met) c.5416C>A (p.Leu1806Met) c.5401C>A (p.Leu1801Met) | |
9 | g.128617722C>G | CA375076356 | SPTAN1 | c.5476C>G (p.Leu1826Val) c.5440C>G (p.Leu1814Val) c.4903C>G (p.Leu1635Val) c.3063C>G c.1050C>G n.668C>G c.5365C>G (p.Leu1789Val) c.5425C>G (p.Leu1809Val) c.5380C>G (p.Leu1794Val) c.5461C>G (p.Leu1821Val) c.5416C>G (p.Leu1806Val) c.5401C>G (p.Leu1801Val) | |
9 | g.128617722C>T | CA467303786 | SPTAN1 | c.5476C>T (p.Leu1826=) c.5440C>T (p.Leu1814=) c.4903C>T (p.Leu1635=) c.3063C>T c.1050C>T n.668C>T c.5365C>T (p.Leu1789=) c.5425C>T (p.Leu1809=) c.5380C>T (p.Leu1794=) c.5461C>T (p.Leu1821=) c.5416C>T (p.Leu1806=) c.5401C>T (p.Leu1801=) | gnomAD v4 |
9 | g.128617723T>A | CA375076374 | SPTAN1 | c.5477T>A (p.Leu1826Gln) c.5441T>A (p.Leu1814Gln) c.4904T>A (p.Leu1635Gln) c.3064T>A c.1051T>A n.669T>A c.5366T>A (p.Leu1789Gln) c.5426T>A (p.Leu1809Gln) c.5381T>A (p.Leu1794Gln) c.5462T>A (p.Leu1821Gln) c.5417T>A (p.Leu1806Gln) c.5402T>A (p.Leu1801Gln) | |
9 | g.128617723T>C | CA375076379 | SPTAN1 | c.5477T>C (p.Leu1826Pro) c.5441T>C (p.Leu1814Pro) c.4904T>C (p.Leu1635Pro) c.3064T>C c.1051T>C n.669T>C c.5366T>C (p.Leu1789Pro) c.5426T>C (p.Leu1809Pro) c.5381T>C (p.Leu1794Pro) c.5462T>C (p.Leu1821Pro) c.5417T>C (p.Leu1806Pro) c.5402T>C (p.Leu1801Pro) | |
9 | g.128617723T>G | CA375076383 | SPTAN1 | c.5477T>G (p.Leu1826Arg) c.5441T>G (p.Leu1814Arg) c.4904T>G (p.Leu1635Arg) c.3064T>G c.1051T>G n.669T>G c.5366T>G (p.Leu1789Arg) c.5426T>G (p.Leu1809Arg) c.5381T>G (p.Leu1794Arg) c.5462T>G (p.Leu1821Arg) c.5417T>G (p.Leu1806Arg) c.5402T>G (p.Leu1801Arg) | |
9 | g.128617724G>A | CA467303788 | SPTAN1 | c.5478G>A (p.Leu1826=) c.5442G>A (p.Leu1814=) c.4905G>A (p.Leu1635=) c.3065G>A c.1052G>A n.670G>A c.5367G>A (p.Leu1789=) c.5427G>A (p.Leu1809=) c.5382G>A (p.Leu1794=) c.5463G>A (p.Leu1821=) c.5418G>A (p.Leu1806=) c.5403G>A (p.Leu1801=) | gnomAD v4 |
9 | g.128617724G>C | CA467303789 | SPTAN1 | c.5478G>C (p.Leu1826=) c.5442G>C (p.Leu1814=) c.4905G>C (p.Leu1635=) c.3065G>C c.1052G>C n.670G>C c.5367G>C (p.Leu1789=) c.5427G>C (p.Leu1809=) c.5382G>C (p.Leu1794=) c.5463G>C (p.Leu1821=) c.5418G>C (p.Leu1806=) c.5403G>C (p.Leu1801=) | |
9 | g.128617724G>T | CA467303787 | SPTAN1 | c.5478G>T (p.Leu1826=) c.5442G>T (p.Leu1814=) c.4905G>T (p.Leu1635=) c.3065G>T c.1052G>T n.670G>T c.5367G>T (p.Leu1789=) c.5427G>T (p.Leu1809=) c.5382G>T (p.Leu1794=) c.5463G>T (p.Leu1821=) c.5418G>T (p.Leu1806=) c.5403G>T (p.Leu1801=) | |
9 | g.128617725G>A | CA375076386 | SPTAN1 | c.5479G>A (p.Glu1827Lys) c.5443G>A (p.Glu1815Lys) c.4906G>A (p.Glu1636Lys) c.3066G>A c.1053G>A n.671G>A c.5368G>A (p.Glu1790Lys) c.5428G>A (p.Glu1810Lys) c.5383G>A (p.Glu1795Lys) c.5464G>A (p.Glu1822Lys) c.5419G>A (p.Glu1807Lys) c.5404G>A (p.Glu1802Lys) | |
9 | g.128617725G>C | CA375076389 | SPTAN1 | c.5479G>C (p.Glu1827Gln) c.5443G>C (p.Glu1815Gln) c.4906G>C (p.Glu1636Gln) c.3066G>C c.1053G>C n.671G>C c.5368G>C (p.Glu1790Gln) c.5428G>C (p.Glu1810Gln) c.5383G>C (p.Glu1795Gln) c.5464G>C (p.Glu1822Gln) c.5419G>C (p.Glu1807Gln) c.5404G>C (p.Glu1802Gln) | |
9 | g.128617725G>T | CA375076392 | SPTAN1 | c.5479G>T (p.Glu1827Ter) c.5443G>T (p.Glu1815Ter) c.4906G>T (p.Glu1636Ter) c.3066G>T c.1053G>T n.671G>T c.5368G>T (p.Glu1790Ter) c.5428G>T (p.Glu1810Ter) c.5383G>T (p.Glu1795Ter) c.5464G>T (p.Glu1822Ter) c.5419G>T (p.Glu1807Ter) c.5404G>T (p.Glu1802Ter) | |
9 | g.128617726A= | CA1880364193 | SPTAN1 | c.5480A= (p.Glu1827=) c.5444A= (p.Glu1815=) c.4907A= (p.Glu1636=) c.3067A= c.1054A= n.672A= c.5369A= (p.Glu1790=) c.5429A= (p.Glu1810=) c.5384A= (p.Glu1795=) c.5465A= (p.Glu1822=) c.5420A= (p.Glu1807=) c.5405A= (p.Glu1802=) | |
9 | g.128617726A>C | CA375076401 | SPTAN1 | c.5480A>C (p.Glu1827Ala) c.5444A>C (p.Glu1815Ala) c.4907A>C (p.Glu1636Ala) c.3067A>C c.1054A>C n.672A>C c.5369A>C (p.Glu1790Ala) c.5429A>C (p.Glu1810Ala) c.5384A>C (p.Glu1795Ala) c.5465A>C (p.Glu1822Ala) c.5420A>C (p.Glu1807Ala) c.5405A>C (p.Glu1802Ala) | |
9 | g.128617726A>G | CA375076396 | SPTAN1 | c.5480A>G (p.Glu1827Gly) c.5444A>G (p.Glu1815Gly) c.4907A>G (p.Glu1636Gly) c.3067A>G c.1054A>G n.672A>G c.5369A>G (p.Glu1790Gly) c.5429A>G (p.Glu1810Gly) c.5384A>G (p.Glu1795Gly) c.5465A>G (p.Glu1822Gly) c.5420A>G (p.Glu1807Gly) c.5405A>G (p.Glu1802Gly) | dbSNP |
9 | g.128617726A>T | CA375076400 | SPTAN1 | c.5480A>T (p.Glu1827Val) c.5444A>T (p.Glu1815Val) c.4907A>T (p.Glu1636Val) c.3067A>T c.1054A>T n.672A>T c.5369A>T (p.Glu1790Val) c.5429A>T (p.Glu1810Val) c.5384A>T (p.Glu1795Val) c.5465A>T (p.Glu1822Val) c.5420A>T (p.Glu1807Val) c.5405A>T (p.Glu1802Val) | |
9 | g.128617727A>C | CA375076405 | SPTAN1 | c.5481A>C (p.Glu1827Asp) c.5445A>C (p.Glu1815Asp) c.4908A>C (p.Glu1636Asp) c.3068A>C c.1055A>C n.673A>C c.5370A>C (p.Glu1790Asp) c.5430A>C (p.Glu1810Asp) c.5385A>C (p.Glu1795Asp) c.5466A>C (p.Glu1822Asp) c.5421A>C (p.Glu1807Asp) c.5406A>C (p.Glu1802Asp) | |
9 | g.128617727A>G | CA467303790 | SPTAN1 | c.5481A>G (p.Glu1827=) c.5445A>G (p.Glu1815=) c.4908A>G (p.Glu1636=) c.3068A>G c.1055A>G n.673A>G c.5370A>G (p.Glu1790=) c.5430A>G (p.Glu1810=) c.5385A>G (p.Glu1795=) c.5466A>G (p.Glu1822=) c.5421A>G (p.Glu1807=) c.5406A>G (p.Glu1802=) | |
9 | g.128617727A>T | CA375076409 | SPTAN1 | c.5481A>T (p.Glu1827Asp) c.5445A>T (p.Glu1815Asp) c.4908A>T (p.Glu1636Asp) c.3068A>T c.1055A>T n.673A>T c.5370A>T (p.Glu1790Asp) c.5430A>T (p.Glu1810Asp) c.5385A>T (p.Glu1795Asp) c.5466A>T (p.Glu1822Asp) c.5421A>T (p.Glu1807Asp) c.5406A>T (p.Glu1802Asp) | |
9 | g.128617728G>A | CA375076417 | SPTAN1 | c.5482G>A (p.Ala1828Thr) c.5446G>A (p.Ala1816Thr) c.4909G>A (p.Ala1637Thr) c.3069G>A c.1056G>A n.674G>A c.5371G>A (p.Ala1791Thr) c.5431G>A (p.Ala1811Thr) c.5386G>A (p.Ala1796Thr) c.5467G>A (p.Ala1823Thr) c.5422G>A (p.Ala1808Thr) c.5407G>A (p.Ala1803Thr) | |
9 | g.128617728G>C | CA375076419 | SPTAN1 | c.5482G>C (p.Ala1828Pro) c.5446G>C (p.Ala1816Pro) c.4909G>C (p.Ala1637Pro) c.3069G>C c.1056G>C n.674G>C c.5371G>C (p.Ala1791Pro) c.5431G>C (p.Ala1811Pro) c.5386G>C (p.Ala1796Pro) c.5467G>C (p.Ala1823Pro) c.5422G>C (p.Ala1808Pro) c.5407G>C (p.Ala1803Pro) | |
9 | g.128617728G>T | CA375076426 | SPTAN1 | c.5482G>T (p.Ala1828Ser) c.5446G>T (p.Ala1816Ser) c.4909G>T (p.Ala1637Ser) c.3069G>T c.1056G>T n.674G>T c.5371G>T (p.Ala1791Ser) c.5431G>T (p.Ala1811Ser) c.5386G>T (p.Ala1796Ser) c.5467G>T (p.Ala1823Ser) c.5422G>T (p.Ala1808Ser) c.5407G>T (p.Ala1803Ser) | COSMIC COSMIC |
9 | g.128617729C>A | CA375076432 | SPTAN1 | c.5483C>A (p.Ala1828Glu) c.5447C>A (p.Ala1816Glu) c.4910C>A (p.Ala1637Glu) c.3070C>A c.1057C>A n.675C>A c.5372C>A (p.Ala1791Glu) c.5432C>A (p.Ala1811Glu) c.5387C>A (p.Ala1796Glu) c.5468C>A (p.Ala1823Glu) c.5423C>A (p.Ala1808Glu) c.5408C>A (p.Ala1803Glu) | |
9 | g.128617729C>G | CA375076437 | SPTAN1 | c.5483C>G (p.Ala1828Gly) c.5447C>G (p.Ala1816Gly) c.4910C>G (p.Ala1637Gly) c.3070C>G c.1057C>G n.675C>G c.5372C>G (p.Ala1791Gly) c.5432C>G (p.Ala1811Gly) c.5387C>G (p.Ala1796Gly) c.5468C>G (p.Ala1823Gly) c.5423C>G (p.Ala1808Gly) c.5408C>G (p.Ala1803Gly) | |
9 | g.128617729C>T | CA375076436 | SPTAN1 | c.5483C>T (p.Ala1828Val) c.5447C>T (p.Ala1816Val) c.4910C>T (p.Ala1637Val) c.3070C>T c.1057C>T n.675C>T c.5372C>T (p.Ala1791Val) c.5432C>T (p.Ala1811Val) c.5387C>T (p.Ala1796Val) c.5468C>T (p.Ala1823Val) c.5423C>T (p.Ala1808Val) c.5408C>T (p.Ala1803Val) | |
9 | g.128617730A= | CA1880364194 | SPTAN1 | c.5484A= (p.Ala1828=) c.5448A= (p.Ala1816=) c.4911A= (p.Ala1637=) c.3071A= c.1058A= n.676A= c.5373A= (p.Ala1791=) c.5433A= (p.Ala1811=) c.5388A= (p.Ala1796=) c.5469A= (p.Ala1823=) c.5424A= (p.Ala1808=) c.5409A= (p.Ala1803=) | |
9 | g.128617730A>C | CA467303791 | SPTAN1 | c.5484A>C (p.Ala1828=) c.5448A>C (p.Ala1816=) c.4911A>C (p.Ala1637=) c.3071A>C c.1058A>C n.676A>C c.5373A>C (p.Ala1791=) c.5433A>C (p.Ala1811=) c.5388A>C (p.Ala1796=) c.5469A>C (p.Ala1823=) c.5424A>C (p.Ala1808=) c.5409A>C (p.Ala1803=) | |
9 | g.128617730A>G | CA467303792 | SPTAN1 | c.5484A>G (p.Ala1828=) c.5448A>G (p.Ala1816=) c.4911A>G (p.Ala1637=) c.3071A>G c.1058A>G n.676A>G c.5373A>G (p.Ala1791=) c.5433A>G (p.Ala1811=) c.5388A>G (p.Ala1796=) c.5469A>G (p.Ala1823=) c.5424A>G (p.Ala1808=) c.5409A>G (p.Ala1803=) | |
9 | g.128617730A>T | CA467303793 | SPTAN1 | c.5484A>T (p.Ala1828=) c.5448A>T (p.Ala1816=) c.4911A>T (p.Ala1637=) c.3071A>T c.1058A>T n.676A>T c.5373A>T (p.Ala1791=) c.5433A>T (p.Ala1811=) c.5388A>T (p.Ala1796=) c.5469A>T (p.Ala1823=) c.5424A>T (p.Ala1808=) c.5409A>T (p.Ala1803=) | |
9 | g.128617730_128617731insTCACTATGTTGGCCAGGCTAGTCTC | CA5265457 | SPTAN1 | c.5484_5485insTCACTATGTTGGCCAGGCTAGTCTC (p.Glu1829SerfsTer7) c.5448_5449insTCACTATGTTGGCCAGGCTAGTCTC (p.Glu1817SerfsTer7) c.4911_4912insTCACTATGTTGGCCAGGCTAGTCTC (p.Glu1638SerfsTer7) c.3071_3072insTCACTATGTTGGCCAGGCTAGTCTC c.1058_1059insTCACTATGTTGGCCAGGCTAGTCTC n.676_677insTCACTATGTTGGCCAGGCTAGTCTC c.5373_5374insTCACTATGTTGGCCAGGCTAGTCTC (p.Glu1792SerfsTer7) c.5433_5434insTCACTATGTTGGCCAGGCTAGTCTC (p.Glu1812SerfsTer7) c.5388_5389insTCACTATGTTGGCCAGGCTAGTCTC (p.Glu1797SerfsTer7) c.5469_5470insTCACTATGTTGGCCAGGCTAGTCTC (p.Glu1824SerfsTer7) c.5424_5425insTCACTATGTTGGCCAGGCTAGTCTC (p.Glu1809SerfsTer7) c.5409_5410insTCACTATGTTGGCCAGGCTAGTCTC (p.Glu1804SerfsTer7) | dbSNP ExAC |
9 | g.128617731G>A | CA375076446 | SPTAN1 | c.5485G>A (p.Glu1829Lys) c.5449G>A (p.Glu1817Lys) c.4912G>A (p.Glu1638Lys) c.3072G>A c.1059G>A n.677G>A c.5374G>A (p.Glu1792Lys) c.5434G>A (p.Glu1812Lys) c.5389G>A (p.Glu1797Lys) c.5470G>A (p.Glu1824Lys) c.5425G>A (p.Glu1809Lys) c.5410G>A (p.Glu1804Lys) | |
9 | g.128617731G>C | CA375076450 | SPTAN1 | c.5485G>C (p.Glu1829Gln) c.5449G>C (p.Glu1817Gln) c.4912G>C (p.Glu1638Gln) c.3072G>C c.1059G>C n.677G>C c.5374G>C (p.Glu1792Gln) c.5434G>C (p.Glu1812Gln) c.5389G>C (p.Glu1797Gln) c.5470G>C (p.Glu1824Gln) c.5425G>C (p.Glu1809Gln) c.5410G>C (p.Glu1804Gln) | |
9 | g.128617731G>T | CA375076451 | SPTAN1 | c.5485G>T (p.Glu1829Ter) c.5449G>T (p.Glu1817Ter) c.4912G>T (p.Glu1638Ter) c.3072G>T c.1059G>T n.677G>T c.5374G>T (p.Glu1792Ter) c.5434G>T (p.Glu1812Ter) c.5389G>T (p.Glu1797Ter) c.5470G>T (p.Glu1824Ter) c.5425G>T (p.Glu1809Ter) c.5410G>T (p.Glu1804Ter) | |
9 | g.128617732A>C | CA375076452 | SPTAN1 | c.5486A>C (p.Glu1829Ala) c.5450A>C (p.Glu1817Ala) c.4913A>C (p.Glu1638Ala) c.3073A>C c.1060A>C n.678A>C c.5375A>C (p.Glu1792Ala) c.5435A>C (p.Glu1812Ala) c.5390A>C (p.Glu1797Ala) c.5471A>C (p.Glu1824Ala) c.5426A>C (p.Glu1809Ala) c.5411A>C (p.Glu1804Ala) | |
9 | g.128617732A>G | CA375076453 | SPTAN1 | c.5486A>G (p.Glu1829Gly) c.5450A>G (p.Glu1817Gly) c.4913A>G (p.Glu1638Gly) c.3073A>G c.1060A>G n.678A>G c.5375A>G (p.Glu1792Gly) c.5435A>G (p.Glu1812Gly) c.5390A>G (p.Glu1797Gly) c.5471A>G (p.Glu1824Gly) c.5426A>G (p.Glu1809Gly) c.5411A>G (p.Glu1804Gly) | |
9 | g.128617732A>T | CA375076456 | SPTAN1 | c.5486A>T (p.Glu1829Val) c.5450A>T (p.Glu1817Val) c.4913A>T (p.Glu1638Val) c.3073A>T c.1060A>T n.678A>T c.5375A>T (p.Glu1792Val) c.5435A>T (p.Glu1812Val) c.5390A>T (p.Glu1797Val) c.5471A>T (p.Glu1824Val) c.5426A>T (p.Glu1809Val) c.5411A>T (p.Glu1804Val) | |
9 | g.128617733A>C | CA375076460 | SPTAN1 | c.5487A>C (p.Glu1829Asp) c.5451A>C (p.Glu1817Asp) c.4914A>C (p.Glu1638Asp) c.3074A>C c.1061A>C n.679A>C c.5376A>C (p.Glu1792Asp) c.5436A>C (p.Glu1812Asp) c.5391A>C (p.Glu1797Asp) c.5472A>C (p.Glu1824Asp) c.5427A>C (p.Glu1809Asp) c.5412A>C (p.Glu1804Asp) | |
9 | g.128617733A>G | CA467303794 | SPTAN1 | c.5487A>G (p.Glu1829=) c.5451A>G (p.Glu1817=) c.4914A>G (p.Glu1638=) c.3074A>G c.1061A>G n.679A>G c.5376A>G (p.Glu1792=) c.5436A>G (p.Glu1812=) c.5391A>G (p.Glu1797=) c.5472A>G (p.Glu1824=) c.5427A>G (p.Glu1809=) c.5412A>G (p.Glu1804=) | |
9 | g.128617733A>T | CA375076463 | SPTAN1 | c.5487A>T (p.Glu1829Asp) c.5451A>T (p.Glu1817Asp) c.4914A>T (p.Glu1638Asp) c.3074A>T c.1061A>T n.679A>T c.5376A>T (p.Glu1792Asp) c.5436A>T (p.Glu1812Asp) c.5391A>T (p.Glu1797Asp) c.5472A>T (p.Glu1824Asp) c.5427A>T (p.Glu1809Asp) c.5412A>T (p.Glu1804Asp) | |
9 | g.128617734C>A | CA375076467 | SPTAN1 | c.5488C>A (p.Leu1830Met) c.5452C>A (p.Leu1818Met) c.4915C>A (p.Leu1639Met) c.3075C>A c.1062C>A n.680C>A c.5377C>A (p.Leu1793Met) c.5437C>A (p.Leu1813Met) c.5392C>A (p.Leu1798Met) c.5473C>A (p.Leu1825Met) c.5428C>A (p.Leu1810Met) c.5413C>A (p.Leu1805Met) | |
9 | g.128617734C>G | CA375076471 | SPTAN1 | c.5488C>G (p.Leu1830Val) c.5452C>G (p.Leu1818Val) c.4915C>G (p.Leu1639Val) c.3075C>G c.1062C>G n.680C>G c.5377C>G (p.Leu1793Val) c.5437C>G (p.Leu1813Val) c.5392C>G (p.Leu1798Val) c.5473C>G (p.Leu1825Val) c.5428C>G (p.Leu1810Val) c.5413C>G (p.Leu1805Val) | ClinVar dbSNP |
9 | g.128617734C>T | CA467303795 | SPTAN1 | c.5488C>T (p.Leu1830=) c.5452C>T (p.Leu1818=) c.4915C>T (p.Leu1639=) c.3075C>T c.1062C>T n.680C>T c.5377C>T (p.Leu1793=) c.5437C>T (p.Leu1813=) c.5392C>T (p.Leu1798=) c.5473C>T (p.Leu1825=) c.5428C>T (p.Leu1810=) c.5413C>T (p.Leu1805=) | |
9 | g.128617735T>A | CA375076485 | SPTAN1 | c.5489T>A (p.Leu1830Gln) c.5453T>A (p.Leu1818Gln) c.4916T>A (p.Leu1639Gln) c.3076T>A c.1063T>A n.681T>A c.5378T>A (p.Leu1793Gln) c.5438T>A (p.Leu1813Gln) c.5393T>A (p.Leu1798Gln) c.5474T>A (p.Leu1825Gln) c.5429T>A (p.Leu1810Gln) c.5414T>A (p.Leu1805Gln) | ClinVar |
9 | g.128617735T>C | CA375076483 | SPTAN1 | c.5489T>C (p.Leu1830Pro) c.5453T>C (p.Leu1818Pro) c.4916T>C (p.Leu1639Pro) c.3076T>C c.1063T>C n.681T>C c.5378T>C (p.Leu1793Pro) c.5438T>C (p.Leu1813Pro) c.5393T>C (p.Leu1798Pro) c.5474T>C (p.Leu1825Pro) c.5429T>C (p.Leu1810Pro) c.5414T>C (p.Leu1805Pro) | |
9 | g.128617735T>G | CA375076475 | SPTAN1 | c.5489T>G (p.Leu1830Arg) c.5453T>G (p.Leu1818Arg) c.4916T>G (p.Leu1639Arg) c.3076T>G c.1063T>G n.681T>G c.5378T>G (p.Leu1793Arg) c.5438T>G (p.Leu1813Arg) c.5393T>G (p.Leu1798Arg) c.5474T>G (p.Leu1825Arg) c.5429T>G (p.Leu1810Arg) c.5414T>G (p.Leu1805Arg) | |
9 | g.128617736G>A | CA467303796 | SPTAN1 | c.5490G>A (p.Leu1830=) c.5454G>A (p.Leu1818=) c.4917G>A (p.Leu1639=) c.3077G>A c.1064G>A n.682G>A c.5379G>A (p.Leu1793=) c.5439G>A (p.Leu1813=) c.5394G>A (p.Leu1798=) c.5475G>A (p.Leu1825=) c.5430G>A (p.Leu1810=) c.5415G>A (p.Leu1805=) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.128617736G>C | CA467303797 | SPTAN1 | c.5490G>C (p.Leu1830=) c.5454G>C (p.Leu1818=) c.4917G>C (p.Leu1639=) c.3077G>C c.1064G>C n.682G>C c.5379G>C (p.Leu1793=) c.5439G>C (p.Leu1813=) c.5394G>C (p.Leu1798=) c.5475G>C (p.Leu1825=) c.5430G>C (p.Leu1810=) c.5415G>C (p.Leu1805=) | |
9 | g.128617736G= | CA1880364195 | SPTAN1 | c.5490G= (p.Leu1830=) c.5454G= (p.Leu1818=) c.4917G= (p.Leu1639=) c.3077G= c.1064G= n.682G= c.5379G= (p.Leu1793=) c.5439G= (p.Leu1813=) c.5394G= (p.Leu1798=) c.5475G= (p.Leu1825=) c.5430G= (p.Leu1810=) c.5415G= (p.Leu1805=) | |
9 | g.128617736G>T | CA467303798 | SPTAN1 | c.5490G>T (p.Leu1830=) c.5454G>T (p.Leu1818=) c.4917G>T (p.Leu1639=) c.3077G>T c.1064G>T n.682G>T c.5379G>T (p.Leu1793=) c.5439G>T (p.Leu1813=) c.5394G>T (p.Leu1798=) c.5475G>T (p.Leu1825=) c.5430G>T (p.Leu1810=) c.5415G>T (p.Leu1805=) | |
9 | g.128617737G>A | CA375076489 | SPTAN1 | c.5491G>A (p.Ala1831Thr) c.5455G>A (p.Ala1819Thr) c.4918G>A (p.Ala1640Thr) c.3078G>A c.1065G>A n.683G>A c.5380G>A (p.Ala1794Thr) c.5440G>A (p.Ala1814Thr) c.5395G>A (p.Ala1799Thr) c.5476G>A (p.Ala1826Thr) c.5431G>A (p.Ala1811Thr) c.5416G>A (p.Ala1806Thr) | |
9 | g.128617737G>C | CA5265458 | SPTAN1 | c.5491G>C (p.Ala1831Pro) c.5455G>C (p.Ala1819Pro) c.4918G>C (p.Ala1640Pro) c.3078G>C c.1065G>C n.683G>C c.5380G>C (p.Ala1794Pro) c.5440G>C (p.Ala1814Pro) c.5395G>C (p.Ala1799Pro) c.5476G>C (p.Ala1826Pro) c.5431G>C (p.Ala1811Pro) c.5416G>C (p.Ala1806Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.128617737G= | CA1880364196 | SPTAN1 | c.5491G= (p.Ala1831=) c.5455G= (p.Ala1819=) c.4918G= (p.Ala1640=) c.3078G= c.1065G= n.683G= c.5380G= (p.Ala1794=) c.5440G= (p.Ala1814=) c.5395G= (p.Ala1799=) c.5476G= (p.Ala1826=) c.5431G= (p.Ala1811=) c.5416G= (p.Ala1806=) | |
9 | g.128617737G>T | CA375076496 | SPTAN1 | c.5491G>T (p.Ala1831Ser) c.5455G>T (p.Ala1819Ser) c.4918G>T (p.Ala1640Ser) c.3078G>T c.1065G>T n.683G>T c.5380G>T (p.Ala1794Ser) c.5440G>T (p.Ala1814Ser) c.5395G>T (p.Ala1799Ser) c.5476G>T (p.Ala1826Ser) c.5431G>T (p.Ala1811Ser) c.5416G>T (p.Ala1806Ser) | |
9 | g.128617738C>A | CA375076500 | SPTAN1 | c.5492C>A (p.Ala1831Asp) c.5456C>A (p.Ala1819Asp) c.4919C>A (p.Ala1640Asp) c.3079C>A c.1066C>A n.684C>A c.5381C>A (p.Ala1794Asp) c.5441C>A (p.Ala1814Asp) c.5396C>A (p.Ala1799Asp) c.5477C>A (p.Ala1826Asp) c.5432C>A (p.Ala1811Asp) c.5417C>A (p.Ala1806Asp) | |
9 | g.128617738C>G | CA375076502 | SPTAN1 | c.5492C>G (p.Ala1831Gly) c.5456C>G (p.Ala1819Gly) c.4919C>G (p.Ala1640Gly) c.3079C>G c.1066C>G n.684C>G c.5381C>G (p.Ala1794Gly) c.5441C>G (p.Ala1814Gly) c.5396C>G (p.Ala1799Gly) c.5477C>G (p.Ala1826Gly) c.5432C>G (p.Ala1811Gly) c.5417C>G (p.Ala1806Gly) | |
9 | g.128617738C>T | CA375076501 | SPTAN1 | c.5492C>T (p.Ala1831Val) c.5456C>T (p.Ala1819Val) c.4919C>T (p.Ala1640Val) c.3079C>T c.1066C>T n.684C>T c.5381C>T (p.Ala1794Val) c.5441C>T (p.Ala1814Val) c.5396C>T (p.Ala1799Val) c.5477C>T (p.Ala1826Val) c.5432C>T (p.Ala1811Val) c.5417C>T (p.Ala1806Val) | |
9 | g.128617739T>A | CA467303799 | SPTAN1 | c.5493T>A (p.Ala1831=) c.5457T>A (p.Ala1819=) c.4920T>A (p.Ala1640=) c.3080T>A c.1067T>A n.685T>A c.5382T>A (p.Ala1794=) c.5442T>A (p.Ala1814=) c.5397T>A (p.Ala1799=) c.5478T>A (p.Ala1826=) c.5433T>A (p.Ala1811=) c.5418T>A (p.Ala1806=) | |
9 | g.128617739T>C | CA467303800 | SPTAN1 | c.5493T>C (p.Ala1831=) c.5457T>C (p.Ala1819=) c.4920T>C (p.Ala1640=) c.3080T>C c.1067T>C n.685T>C c.5382T>C (p.Ala1794=) c.5442T>C (p.Ala1814=) c.5397T>C (p.Ala1799=) c.5478T>C (p.Ala1826=) c.5433T>C (p.Ala1811=) c.5418T>C (p.Ala1806=) | |
9 | g.128617739T>G | CA467303801 | SPTAN1 | c.5493T>G (p.Ala1831=) c.5457T>G (p.Ala1819=) c.4920T>G (p.Ala1640=) c.3080T>G c.1067T>G n.685T>G c.5382T>G (p.Ala1794=) c.5442T>G (p.Ala1814=) c.5397T>G (p.Ala1799=) c.5478T>G (p.Ala1826=) c.5433T>G (p.Ala1811=) c.5418T>G (p.Ala1806=) | |
9 | g.128617740G>A | CA375076503 | SPTAN1 | c.5494G>A (p.Ala1832Thr) c.5458G>A (p.Ala1820Thr) c.4921G>A (p.Ala1641Thr) c.3081G>A c.1068G>A n.686G>A c.5383G>A (p.Ala1795Thr) c.5443G>A (p.Ala1815Thr) c.5398G>A (p.Ala1800Thr) c.5479G>A (p.Ala1827Thr) c.5434G>A (p.Ala1812Thr) c.5419G>A (p.Ala1807Thr) | gnomAD v4 |
9 | g.128617740G>C | CA375076506 | SPTAN1 | c.5494G>C (p.Ala1832Pro) c.5458G>C (p.Ala1820Pro) c.4921G>C (p.Ala1641Pro) c.3081G>C c.1068G>C n.686G>C c.5383G>C (p.Ala1795Pro) c.5443G>C (p.Ala1815Pro) c.5398G>C (p.Ala1800Pro) c.5479G>C (p.Ala1827Pro) c.5434G>C (p.Ala1812Pro) c.5419G>C (p.Ala1807Pro) | |
9 | g.128617740G>T | CA375076508 | SPTAN1 | c.5494G>T (p.Ala1832Ser) c.5458G>T (p.Ala1820Ser) c.4921G>T (p.Ala1641Ser) c.3081G>T c.1068G>T n.686G>T c.5383G>T (p.Ala1795Ser) c.5443G>T (p.Ala1815Ser) c.5398G>T (p.Ala1800Ser) c.5479G>T (p.Ala1827Ser) c.5434G>T (p.Ala1812Ser) c.5419G>T (p.Ala1807Ser) | |
9 | g.128617741C>A | CA375076522 | SPTAN1 | c.5495C>A (p.Ala1832Glu) c.5459C>A (p.Ala1820Glu) c.4922C>A (p.Ala1641Glu) c.3082C>A c.1069C>A n.687C>A c.5384C>A (p.Ala1795Glu) c.5444C>A (p.Ala1815Glu) c.5399C>A (p.Ala1800Glu) c.5480C>A (p.Ala1827Glu) c.5435C>A (p.Ala1812Glu) c.5420C>A (p.Ala1807Glu) | |
9 | g.128617741C>G | CA375076526 | SPTAN1 | c.5495C>G (p.Ala1832Gly) c.5459C>G (p.Ala1820Gly) c.4922C>G (p.Ala1641Gly) c.3082C>G c.1069C>G n.687C>G c.5384C>G (p.Ala1795Gly) c.5444C>G (p.Ala1815Gly) c.5399C>G (p.Ala1800Gly) c.5480C>G (p.Ala1827Gly) c.5435C>G (p.Ala1812Gly) c.5420C>G (p.Ala1807Gly) | |
9 | g.128617741C>T | CA375076527 | SPTAN1 | c.5495C>T (p.Ala1832Val) c.5459C>T (p.Ala1820Val) c.4922C>T (p.Ala1641Val) c.3082C>T c.1069C>T n.687C>T c.5384C>T (p.Ala1795Val) c.5444C>T (p.Ala1815Val) c.5399C>T (p.Ala1800Val) c.5480C>T (p.Ala1827Val) c.5435C>T (p.Ala1812Val) c.5420C>T (p.Ala1807Val) | ClinVar gnomAD v4 |
9 | g.128617742G>A | CA302996 | SPTAN1 | c.5496G>A (p.Ala1832=) c.5460G>A (p.Ala1820=) c.4923G>A (p.Ala1641=) c.3083G>A c.1070G>A n.688G>A c.5385G>A (p.Ala1795=) c.5445G>A (p.Ala1815=) c.5400G>A (p.Ala1800=) c.5481G>A (p.Ala1827=) c.5436G>A (p.Ala1812=) c.5421G>A (p.Ala1807=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.128617742G>C | CA467303802 | SPTAN1 | c.5496G>C (p.Ala1832=) c.5460G>C (p.Ala1820=) c.4923G>C (p.Ala1641=) c.3083G>C c.1070G>C n.688G>C c.5385G>C (p.Ala1795=) c.5445G>C (p.Ala1815=) c.5400G>C (p.Ala1800=) c.5481G>C (p.Ala1827=) c.5436G>C (p.Ala1812=) c.5421G>C (p.Ala1807=) | |
9 | g.128617742G= | CA1880364197 | SPTAN1 | c.5496G= (p.Ala1832=) c.5460G= (p.Ala1820=) c.4923G= (p.Ala1641=) c.3083G= c.1070G= n.688G= c.5385G= (p.Ala1795=) c.5445G= (p.Ala1815=) c.5400G= (p.Ala1800=) c.5481G= (p.Ala1827=) c.5436G= (p.Ala1812=) c.5421G= (p.Ala1807=) | |
9 | g.128617742G>T | CA467303803 | SPTAN1 | c.5496G>T (p.Ala1832=) c.5460G>T (p.Ala1820=) c.4923G>T (p.Ala1641=) c.3083G>T c.1070G>T n.688G>T c.5385G>T (p.Ala1795=) c.5445G>T (p.Ala1815=) c.5400G>T (p.Ala1800=) c.5481G>T (p.Ala1827=) c.5436G>T (p.Ala1812=) c.5421G>T (p.Ala1807=) | gnomAD v4 |
9 | g.128617743C>A | CA375076534 | SPTAN1 | c.5497C>A (p.His1833Asn) c.5461C>A (p.His1821Asn) c.4924C>A (p.His1642Asn) c.3084C>A c.1071C>A n.689C>A c.5386C>A (p.His1796Asn) c.5446C>A (p.His1816Asn) c.5401C>A (p.His1801Asn) c.5482C>A (p.His1828Asn) c.5437C>A (p.His1813Asn) c.5422C>A (p.His1808Asn) | gnomAD v4 |
9 | g.128617743C= | CA1880364198 | SPTAN1 | c.5497C= (p.His1833=) c.5461C= (p.His1821=) c.4924C= (p.His1642=) c.3084C= c.1071C= n.689C= c.5386C= (p.His1796=) c.5446C= (p.His1816=) c.5401C= (p.His1801=) c.5482C= (p.His1828=) c.5437C= (p.His1813=) c.5422C= (p.His1808=) | |
9 | g.128617743C>G | CA375076538 | SPTAN1 | c.5497C>G (p.His1833Asp) c.5461C>G (p.His1821Asp) c.4924C>G (p.His1642Asp) c.3084C>G c.1071C>G n.689C>G c.5386C>G (p.His1796Asp) c.5446C>G (p.His1816Asp) c.5401C>G (p.His1801Asp) c.5482C>G (p.His1828Asp) c.5437C>G (p.His1813Asp) c.5422C>G (p.His1808Asp) | |
9 | g.128617743C>T | CA375076540 | SPTAN1 | c.5497C>T (p.His1833Tyr) c.5461C>T (p.His1821Tyr) c.4924C>T (p.His1642Tyr) c.3084C>T c.1071C>T n.689C>T c.5386C>T (p.His1796Tyr) c.5446C>T (p.His1816Tyr) c.5401C>T (p.His1801Tyr) c.5482C>T (p.His1828Tyr) c.5437C>T (p.His1813Tyr) c.5422C>T (p.His1808Tyr) | ClinVar dbSNP |
9 | g.128617744A= | CA1880364199 | SPTAN1 | c.5498A= (p.His1833=) c.5462A= (p.His1821=) c.4925A= (p.His1642=) c.3085A= c.1072A= n.690A= c.5387A= (p.His1796=) c.5447A= (p.His1816=) c.5402A= (p.His1801=) c.5483A= (p.His1828=) c.5438A= (p.His1813=) c.5423A= (p.His1808=) | |
9 | g.128617744A>C | CA375076549 | SPTAN1 | c.5498A>C (p.His1833Pro) c.5462A>C (p.His1821Pro) c.4925A>C (p.His1642Pro) c.3085A>C c.1072A>C n.690A>C c.5387A>C (p.His1796Pro) c.5447A>C (p.His1816Pro) c.5402A>C (p.His1801Pro) c.5483A>C (p.His1828Pro) c.5438A>C (p.His1813Pro) c.5423A>C (p.His1808Pro) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.128617744A>G | CA375076544 | SPTAN1 | c.5498A>G (p.His1833Arg) c.5462A>G (p.His1821Arg) c.4925A>G (p.His1642Arg) c.3085A>G c.1072A>G n.690A>G c.5387A>G (p.His1796Arg) c.5447A>G (p.His1816Arg) c.5402A>G (p.His1801Arg) c.5483A>G (p.His1828Arg) c.5438A>G (p.His1813Arg) c.5423A>G (p.His1808Arg) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.128617744A>T | CA375076547 | SPTAN1 | c.5498A>T (p.His1833Leu) c.5462A>T (p.His1821Leu) c.4925A>T (p.His1642Leu) c.3085A>T c.1072A>T n.690A>T c.5387A>T (p.His1796Leu) c.5447A>T (p.His1816Leu) c.5402A>T (p.His1801Leu) c.5483A>T (p.His1828Leu) c.5438A>T (p.His1813Leu) c.5423A>T (p.His1808Leu) | |
9 | g.128617745T>A | CA375076552 | SPTAN1 | c.5499T>A (p.His1833Gln) c.5463T>A (p.His1821Gln) c.4926T>A (p.His1642Gln) c.3086T>A c.1073T>A n.691T>A c.5388T>A (p.His1796Gln) c.5448T>A (p.His1816Gln) c.5403T>A (p.His1801Gln) c.5484T>A (p.His1828Gln) c.5439T>A (p.His1813Gln) c.5424T>A (p.His1808Gln) | |
9 | g.128617745T>C | CA467303804 | SPTAN1 | c.5499T>C (p.His1833=) c.5463T>C (p.His1821=) c.4926T>C (p.His1642=) c.3086T>C c.1073T>C n.691T>C c.5388T>C (p.His1796=) c.5448T>C (p.His1816=) c.5403T>C (p.His1801=) c.5484T>C (p.His1828=) c.5439T>C (p.His1813=) c.5424T>C (p.His1808=) | ClinVar dbSNP |
9 | g.128617745T>G | CA375076554 | SPTAN1 | c.5499T>G (p.His1833Gln) c.5463T>G (p.His1821Gln) c.4926T>G (p.His1642Gln) c.3086T>G c.1073T>G n.691T>G c.5388T>G (p.His1796Gln) c.5448T>G (p.His1816Gln) c.5403T>G (p.His1801Gln) c.5484T>G (p.His1828Gln) c.5439T>G (p.His1813Gln) c.5424T>G (p.His1808Gln) | |
9 | g.128617745T= | CA1880364200 | SPTAN1 | c.5499T= (p.His1833=) c.5463T= (p.His1821=) c.4926T= (p.His1642=) c.3086T= c.1073T= n.691T= c.5388T= (p.His1796=) c.5448T= (p.His1816=) c.5403T= (p.His1801=) c.5484T= (p.His1828=) c.5439T= (p.His1813=) c.5424T= (p.His1808=) | |
9 | g.128617746G>A | CA375076558 | SPTAN1 | c.5500G>A (p.Glu1834Lys) c.5464G>A (p.Glu1822Lys) c.4927G>A (p.Glu1643Lys) c.3087G>A c.1074G>A n.692G>A c.5389G>A (p.Glu1797Lys) c.5449G>A (p.Glu1817Lys) c.5404G>A (p.Glu1802Lys) c.5485G>A (p.Glu1829Lys) c.5440G>A (p.Glu1814Lys) c.5425G>A (p.Glu1809Lys) | gnomAD v4 |
9 | g.128617746G>C | CA375076562 | SPTAN1 | c.5500G>C (p.Glu1834Gln) c.5464G>C (p.Glu1822Gln) c.4927G>C (p.Glu1643Gln) c.3087G>C c.1074G>C n.692G>C c.5389G>C (p.Glu1797Gln) c.5449G>C (p.Glu1817Gln) c.5404G>C (p.Glu1802Gln) c.5485G>C (p.Glu1829Gln) c.5440G>C (p.Glu1814Gln) c.5425G>C (p.Glu1809Gln) | |
9 | g.128617746G>T | CA375076564 | SPTAN1 | c.5500G>T (p.Glu1834Ter) c.5464G>T (p.Glu1822Ter) c.4927G>T (p.Glu1643Ter) c.3087G>T c.1074G>T n.692G>T c.5389G>T (p.Glu1797Ter) c.5449G>T (p.Glu1817Ter) c.5404G>T (p.Glu1802Ter) c.5485G>T (p.Glu1829Ter) c.5440G>T (p.Glu1814Ter) c.5425G>T (p.Glu1809Ter) | |
9 | g.128617747A>C | CA375076567 | SPTAN1 | c.5501A>C (p.Glu1834Ala) c.5465A>C (p.Glu1822Ala) c.4928A>C (p.Glu1643Ala) c.3088A>C c.1075A>C n.693A>C c.5390A>C (p.Glu1797Ala) c.5450A>C (p.Glu1817Ala) c.5405A>C (p.Glu1802Ala) c.5486A>C (p.Glu1829Ala) c.5441A>C (p.Glu1814Ala) c.5426A>C (p.Glu1809Ala) | gnomAD v4 |
9 | g.128617747A>G | CA375076571 | SPTAN1 | c.5501A>G (p.Glu1834Gly) c.5465A>G (p.Glu1822Gly) c.4928A>G (p.Glu1643Gly) c.3088A>G c.1075A>G n.693A>G c.5390A>G (p.Glu1797Gly) c.5450A>G (p.Glu1817Gly) c.5405A>G (p.Glu1802Gly) c.5486A>G (p.Glu1829Gly) c.5441A>G (p.Glu1814Gly) c.5426A>G (p.Glu1809Gly) | |
9 | g.128617747A>T | CA375076573 | SPTAN1 | c.5501A>T (p.Glu1834Val) c.5465A>T (p.Glu1822Val) c.4928A>T (p.Glu1643Val) c.3088A>T c.1075A>T n.693A>T c.5390A>T (p.Glu1797Val) c.5450A>T (p.Glu1817Val) c.5405A>T (p.Glu1802Val) c.5486A>T (p.Glu1829Val) c.5441A>T (p.Glu1814Val) c.5426A>T (p.Glu1809Val) |