| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| 9 | g.128617748G>A | CA467303805 | SPTAN1 | c.5502G>A (p.Glu1834=) c.5466G>A (p.Glu1822=) c.4929G>A (p.Glu1643=) c.3089G>A c.1076G>A n.694G>A c.5391G>A (p.Glu1797=) c.5451G>A (p.Glu1817=) c.5406G>A (p.Glu1802=) c.5487G>A (p.Glu1829=) c.5442G>A (p.Glu1814=) c.5427G>A (p.Glu1809=) | gnomAD v4 |
| 9 | g.128617748G>C | CA375076576 | SPTAN1 | c.5502G>C (p.Glu1834Asp) c.5466G>C (p.Glu1822Asp) c.4929G>C (p.Glu1643Asp) c.3089G>C c.1076G>C n.694G>C c.5391G>C (p.Glu1797Asp) c.5451G>C (p.Glu1817Asp) c.5406G>C (p.Glu1802Asp) c.5487G>C (p.Glu1829Asp) c.5442G>C (p.Glu1814Asp) c.5427G>C (p.Glu1809Asp) | |
| 9 | g.128617748G>T | CA375076577 | SPTAN1 | c.5502G>T (p.Glu1834Asp) c.5466G>T (p.Glu1822Asp) c.4929G>T (p.Glu1643Asp) c.3089G>T c.1076G>T n.694G>T c.5391G>T (p.Glu1797Asp) c.5451G>T (p.Glu1817Asp) c.5406G>T (p.Glu1802Asp) c.5487G>T (p.Glu1829Asp) c.5442G>T (p.Glu1814Asp) c.5427G>T (p.Glu1809Asp) | |
| 9 | g.128617750_128617753del | CA2586963921 | SPTAN1 | c.5504_5507del (p.Pro1835LeufsTer?) c.5468_5471del (p.Pro1823LeufsTer?) c.4931_4934del (p.Pro1644LeufsTer?) c.3091_3094del c.1078_1081del n.696_699del c.5393_5396del (p.Pro1798LeufsTer?) c.5453_5456del (p.Pro1818LeufsTer?) c.5408_5411del (p.Pro1803LeufsTer?) c.5489_5492del (p.Pro1830LeufsTer?) c.5444_5447del (p.Pro1815LeufsTer?) c.5429_5432del (p.Pro1810LeufsTer?) | ClinVar |
| 9 | g.128617749C>A | CA375076583 | SPTAN1 | c.5503C>A (p.Pro1835Thr) c.5467C>A (p.Pro1823Thr) c.4930C>A (p.Pro1644Thr) c.3090C>A c.1077C>A n.695C>A c.5392C>A (p.Pro1798Thr) c.5452C>A (p.Pro1818Thr) c.5407C>A (p.Pro1803Thr) c.5488C>A (p.Pro1830Thr) c.5443C>A (p.Pro1815Thr) c.5428C>A (p.Pro1810Thr) | |
| 9 | g.128617749C>G | CA375076585 | SPTAN1 | c.5503C>G (p.Pro1835Ala) c.5467C>G (p.Pro1823Ala) c.4930C>G (p.Pro1644Ala) c.3090C>G c.1077C>G n.695C>G c.5392C>G (p.Pro1798Ala) c.5452C>G (p.Pro1818Ala) c.5407C>G (p.Pro1803Ala) c.5488C>G (p.Pro1830Ala) c.5443C>G (p.Pro1815Ala) c.5428C>G (p.Pro1810Ala) | |
| 9 | g.128617749C>T | CA375076581 | SPTAN1 | c.5503C>T (p.Pro1835Ser) c.5467C>T (p.Pro1823Ser) c.4930C>T (p.Pro1644Ser) c.3090C>T c.1077C>T n.695C>T c.5392C>T (p.Pro1798Ser) c.5452C>T (p.Pro1818Ser) c.5407C>T (p.Pro1803Ser) c.5488C>T (p.Pro1830Ser) c.5443C>T (p.Pro1815Ser) c.5428C>T (p.Pro1810Ser) | |
| 9 | g.128617750C>A | CA375076588 | SPTAN1 | c.5504C>A (p.Pro1835Gln) c.5468C>A (p.Pro1823Gln) c.4931C>A (p.Pro1644Gln) c.3091C>A c.1078C>A n.696C>A c.5393C>A (p.Pro1798Gln) c.5453C>A (p.Pro1818Gln) c.5408C>A (p.Pro1803Gln) c.5489C>A (p.Pro1830Gln) c.5444C>A (p.Pro1815Gln) c.5429C>A (p.Pro1810Gln) | |
| 9 | g.128617750C= | CA1880364201 | SPTAN1 | c.5504C= (p.Pro1835=) c.5468C= (p.Pro1823=) c.4931C= (p.Pro1644=) c.3091C= c.1078C= n.696C= c.5393C= (p.Pro1798=) c.5453C= (p.Pro1818=) c.5408C= (p.Pro1803=) c.5489C= (p.Pro1830=) c.5444C= (p.Pro1815=) c.5429C= (p.Pro1810=) | |
| 9 | g.128617750C>G | CA375076592 | SPTAN1 | c.5504C>G (p.Pro1835Arg) c.5468C>G (p.Pro1823Arg) c.4931C>G (p.Pro1644Arg) c.3091C>G c.1078C>G n.696C>G c.5393C>G (p.Pro1798Arg) c.5453C>G (p.Pro1818Arg) c.5408C>G (p.Pro1803Arg) c.5489C>G (p.Pro1830Arg) c.5444C>G (p.Pro1815Arg) c.5429C>G (p.Pro1810Arg) | |
| 9 | g.128617750C>T | CA5265459 | SPTAN1 | c.5504C>T (p.Pro1835Leu) c.5468C>T (p.Pro1823Leu) c.4931C>T (p.Pro1644Leu) c.3091C>T c.1078C>T n.696C>T c.5393C>T (p.Pro1798Leu) c.5453C>T (p.Pro1818Leu) c.5408C>T (p.Pro1803Leu) c.5489C>T (p.Pro1830Leu) c.5444C>T (p.Pro1815Leu) c.5429C>T (p.Pro1810Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 9 | g.128617751G>A | CA5265460 | SPTAN1 | c.5505G>A (p.Pro1835=) c.5469G>A (p.Pro1823=) c.4932G>A (p.Pro1644=) c.3092G>A c.1079G>A n.697G>A c.5394G>A (p.Pro1798=) c.5454G>A (p.Pro1818=) c.5409G>A (p.Pro1803=) c.5490G>A (p.Pro1830=) c.5445G>A (p.Pro1815=) c.5430G>A (p.Pro1810=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.128617751G>C | CA467303807 | SPTAN1 | c.5505G>C (p.Pro1835=) c.5469G>C (p.Pro1823=) c.4932G>C (p.Pro1644=) c.3092G>C c.1079G>C n.697G>C c.5394G>C (p.Pro1798=) c.5454G>C (p.Pro1818=) c.5409G>C (p.Pro1803=) c.5490G>C (p.Pro1830=) c.5445G>C (p.Pro1815=) c.5430G>C (p.Pro1810=) | |
| 9 | g.128617751G= | CA1880364202 | SPTAN1 | c.5505G= (p.Pro1835=) c.5469G= (p.Pro1823=) c.4932G= (p.Pro1644=) c.3092G= c.1079G= n.697G= c.5394G= (p.Pro1798=) c.5454G= (p.Pro1818=) c.5409G= (p.Pro1803=) c.5490G= (p.Pro1830=) c.5445G= (p.Pro1815=) c.5430G= (p.Pro1810=) | |
| 9 | g.128617751G>T | CA467303806 | SPTAN1 | c.5505G>T (p.Pro1835=) c.5469G>T (p.Pro1823=) c.4932G>T (p.Pro1644=) c.3092G>T c.1079G>T n.697G>T c.5394G>T (p.Pro1798=) c.5454G>T (p.Pro1818=) c.5409G>T (p.Pro1803=) c.5490G>T (p.Pro1830=) c.5445G>T (p.Pro1815=) c.5430G>T (p.Pro1810=) | |
| 9 | g.128617752G>A | CA318718 | SPTAN1 | c.5506G>A (p.Ala1836Thr) c.5470G>A (p.Ala1824Thr) c.4933G>A (p.Ala1645Thr) c.3093G>A c.1080G>A n.698G>A c.5395G>A (p.Ala1799Thr) c.5455G>A (p.Ala1819Thr) c.5410G>A (p.Ala1804Thr) c.5491G>A (p.Ala1831Thr) c.5446G>A (p.Ala1816Thr) c.5431G>A (p.Ala1811Thr) | ClinVar dbSNP gnomAD v4 |
| 9 | g.128617752G>C | CA375076600 | SPTAN1 | c.5506G>C (p.Ala1836Pro) c.5470G>C (p.Ala1824Pro) c.4933G>C (p.Ala1645Pro) c.3093G>C c.1080G>C n.698G>C c.5395G>C (p.Ala1799Pro) c.5455G>C (p.Ala1819Pro) c.5410G>C (p.Ala1804Pro) c.5491G>C (p.Ala1831Pro) c.5446G>C (p.Ala1816Pro) c.5431G>C (p.Ala1811Pro) | gnomAD v4 |
| 9 | g.128617752G= | CA1880364203 | SPTAN1 | c.5506G= (p.Ala1836=) c.5470G= (p.Ala1824=) c.4933G= (p.Ala1645=) c.3093G= c.1080G= n.698G= c.5395G= (p.Ala1799=) c.5455G= (p.Ala1819=) c.5410G= (p.Ala1804=) c.5491G= (p.Ala1831=) c.5446G= (p.Ala1816=) c.5431G= (p.Ala1811=) | |
| 9 | g.128617752G>T | CA375076597 | SPTAN1 | c.5506G>T (p.Ala1836Ser) c.5470G>T (p.Ala1824Ser) c.4933G>T (p.Ala1645Ser) c.3093G>T c.1080G>T n.698G>T c.5395G>T (p.Ala1799Ser) c.5455G>T (p.Ala1819Ser) c.5410G>T (p.Ala1804Ser) c.5491G>T (p.Ala1831Ser) c.5446G>T (p.Ala1816Ser) c.5431G>T (p.Ala1811Ser) | |
| 9 | g.128617753C>A | CA375076604 | SPTAN1 | c.5507C>A (p.Ala1836Asp) c.5471C>A (p.Ala1824Asp) c.4934C>A (p.Ala1645Asp) c.3094C>A c.1081C>A n.699C>A c.5396C>A (p.Ala1799Asp) c.5456C>A (p.Ala1819Asp) c.5411C>A (p.Ala1804Asp) c.5492C>A (p.Ala1831Asp) c.5447C>A (p.Ala1816Asp) c.5432C>A (p.Ala1811Asp) | |
| 9 | g.128617753C>G | CA375076606 | SPTAN1 | c.5507C>G (p.Ala1836Gly) c.5471C>G (p.Ala1824Gly) c.4934C>G (p.Ala1645Gly) c.3094C>G c.1081C>G n.699C>G c.5396C>G (p.Ala1799Gly) c.5456C>G (p.Ala1819Gly) c.5411C>G (p.Ala1804Gly) c.5492C>G (p.Ala1831Gly) c.5447C>G (p.Ala1816Gly) c.5432C>G (p.Ala1811Gly) | |
| 9 | g.128617753C>T | CA375076610 | SPTAN1 | c.5507C>T (p.Ala1836Val) c.5471C>T (p.Ala1824Val) c.4934C>T (p.Ala1645Val) c.3094C>T c.1081C>T n.699C>T c.5396C>T (p.Ala1799Val) c.5456C>T (p.Ala1819Val) c.5411C>T (p.Ala1804Val) c.5492C>T (p.Ala1831Val) c.5447C>T (p.Ala1816Val) c.5432C>T (p.Ala1811Val) | |
| 9 | g.128617754T>A | CA467303808 | SPTAN1 | c.5508T>A (p.Ala1836=) c.5472T>A (p.Ala1824=) c.4935T>A (p.Ala1645=) c.3095T>A c.1082T>A n.700T>A c.5397T>A (p.Ala1799=) c.5457T>A (p.Ala1819=) c.5412T>A (p.Ala1804=) c.5493T>A (p.Ala1831=) c.5448T>A (p.Ala1816=) c.5433T>A (p.Ala1811=) | gnomAD v4 |
| 9 | g.128617754T>C | CA467303809 | SPTAN1 | c.5508T>C (p.Ala1836=) c.5472T>C (p.Ala1824=) c.4935T>C (p.Ala1645=) c.3095T>C c.1082T>C n.700T>C c.5397T>C (p.Ala1799=) c.5457T>C (p.Ala1819=) c.5412T>C (p.Ala1804=) c.5493T>C (p.Ala1831=) c.5448T>C (p.Ala1816=) c.5433T>C (p.Ala1811=) | |
| 9 | g.128617754T>G | CA467303810 | SPTAN1 | c.5508T>G (p.Ala1836=) c.5472T>G (p.Ala1824=) c.4935T>G (p.Ala1645=) c.3095T>G c.1082T>G n.700T>G c.5397T>G (p.Ala1799=) c.5457T>G (p.Ala1819=) c.5412T>G (p.Ala1804=) c.5493T>G (p.Ala1831=) c.5448T>G (p.Ala1816=) c.5433T>G (p.Ala1811=) | |
| 9 | g.128617755A= | CA1880364204 | SPTAN1 | c.5509A= (p.Ile1837=) c.5473A= (p.Ile1825=) c.4936A= (p.Ile1646=) c.3096A= c.1083A= n.701A= c.5398A= (p.Ile1800=) c.5458A= (p.Ile1820=) c.5413A= (p.Ile1805=) c.5494A= (p.Ile1832=) c.5449A= (p.Ile1817=) c.5434A= (p.Ile1812=) | |
| 9 | g.128617755A>C | CA375076613 | SPTAN1 | c.5509A>C (p.Ile1837Leu) c.5473A>C (p.Ile1825Leu) c.4936A>C (p.Ile1646Leu) c.3096A>C c.1083A>C n.701A>C c.5398A>C (p.Ile1800Leu) c.5458A>C (p.Ile1820Leu) c.5413A>C (p.Ile1805Leu) c.5494A>C (p.Ile1832Leu) c.5449A>C (p.Ile1817Leu) c.5434A>C (p.Ile1812Leu) | |
| 9 | g.128617755A>G | CA200401646 | SPTAN1 | c.5509A>G (p.Ile1837Val) c.5473A>G (p.Ile1825Val) c.4936A>G (p.Ile1646Val) c.3096A>G c.1083A>G n.701A>G c.5398A>G (p.Ile1800Val) c.5458A>G (p.Ile1820Val) c.5413A>G (p.Ile1805Val) c.5494A>G (p.Ile1832Val) c.5449A>G (p.Ile1817Val) c.5434A>G (p.Ile1812Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |