| 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.128617642A>C | CA375075673 | SPTAN1 | c.5396A>C (p.Glu1799Ala) c.5360A>C (p.Glu1787Ala) c.4823A>C (p.Glu1608Ala) c.2983A>C c.970A>C n.588A>C c.5285A>C (p.Glu1762Ala) c.5345A>C (p.Glu1782Ala) c.5300A>C (p.Glu1767Ala) c.5381A>C (p.Glu1794Ala) c.5336A>C (p.Glu1779Ala) c.5321A>C (p.Glu1774Ala) | |
| 9 | g.128617642A>G | CA375075676 | SPTAN1 | c.5396A>G (p.Glu1799Gly) c.5360A>G (p.Glu1787Gly) c.4823A>G (p.Glu1608Gly) c.2983A>G c.970A>G n.588A>G c.5285A>G (p.Glu1762Gly) c.5345A>G (p.Glu1782Gly) c.5300A>G (p.Glu1767Gly) c.5381A>G (p.Glu1794Gly) c.5336A>G (p.Glu1779Gly) c.5321A>G (p.Glu1774Gly) | |
| 9 | g.128617642A>T | CA375075688 | SPTAN1 | c.5396A>T (p.Glu1799Val) c.5360A>T (p.Glu1787Val) c.4823A>T (p.Glu1608Val) c.2983A>T c.970A>T n.588A>T c.5285A>T (p.Glu1762Val) c.5345A>T (p.Glu1782Val) c.5300A>T (p.Glu1767Val) c.5381A>T (p.Glu1794Val) c.5336A>T (p.Glu1779Val) c.5321A>T (p.Glu1774Val) | |
| 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.128617643G>A | CA5265447 | SPTAN1 | c.5397G>A (p.Glu1799=) c.5361G>A (p.Glu1787=) c.4824G>A (p.Glu1608=) c.2984G>A c.971G>A n.589G>A c.5286G>A (p.Glu1762=) c.5346G>A (p.Glu1782=) c.5301G>A (p.Glu1767=) c.5382G>A (p.Glu1794=) c.5337G>A (p.Glu1779=) c.5322G>A (p.Glu1774=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.128617643G>C | CA375075695 | SPTAN1 | c.5397G>C (p.Glu1799Asp) c.5361G>C (p.Glu1787Asp) c.4824G>C (p.Glu1608Asp) c.2984G>C c.971G>C n.589G>C c.5286G>C (p.Glu1762Asp) c.5346G>C (p.Glu1782Asp) c.5301G>C (p.Glu1767Asp) c.5382G>C (p.Glu1794Asp) c.5337G>C (p.Glu1779Asp) c.5322G>C (p.Glu1774Asp) | |
| 9 | g.128617643G= | CA1880364169 | SPTAN1 | c.5397G= (p.Glu1799=) c.5361G= (p.Glu1787=) c.4824G= (p.Glu1608=) c.2984G= c.971G= n.589G= c.5286G= (p.Glu1762=) c.5346G= (p.Glu1782=) c.5301G= (p.Glu1767=) c.5382G= (p.Glu1794=) c.5337G= (p.Glu1779=) c.5322G= (p.Glu1774=) | |
| 9 | g.128617643G>T | CA375075694 | SPTAN1 | c.5397G>T (p.Glu1799Asp) c.5361G>T (p.Glu1787Asp) c.4824G>T (p.Glu1608Asp) c.2984G>T c.971G>T n.589G>T c.5286G>T (p.Glu1762Asp) c.5346G>T (p.Glu1782Asp) c.5301G>T (p.Glu1767Asp) c.5382G>T (p.Glu1794Asp) c.5337G>T (p.Glu1779Asp) c.5322G>T (p.Glu1774Asp) | |
| 9 | g.128617644A>C | CA375075708 | SPTAN1 | c.5398A>C (p.Lys1800Gln) c.5362A>C (p.Lys1788Gln) c.4825A>C (p.Lys1609Gln) c.2985A>C c.972A>C n.590A>C c.5287A>C (p.Lys1763Gln) c.5347A>C (p.Lys1783Gln) c.5302A>C (p.Lys1768Gln) c.5383A>C (p.Lys1795Gln) c.5338A>C (p.Lys1780Gln) c.5323A>C (p.Lys1775Gln) | |
| 9 | g.128617644A>G | CA375075711 | SPTAN1 | c.5398A>G (p.Lys1800Glu) c.5362A>G (p.Lys1788Glu) c.4825A>G (p.Lys1609Glu) c.2985A>G c.972A>G n.590A>G c.5287A>G (p.Lys1763Glu) c.5347A>G (p.Lys1783Glu) c.5302A>G (p.Lys1768Glu) c.5383A>G (p.Lys1795Glu) c.5338A>G (p.Lys1780Glu) c.5323A>G (p.Lys1775Glu) | |
| 9 | g.128617644A>T | CA375075713 | SPTAN1 | c.5398A>T (p.Lys1800Ter) c.5362A>T (p.Lys1788Ter) c.4825A>T (p.Lys1609Ter) c.2985A>T c.972A>T n.590A>T c.5287A>T (p.Lys1763Ter) c.5347A>T (p.Lys1783Ter) c.5302A>T (p.Lys1768Ter) c.5383A>T (p.Lys1795Ter) c.5338A>T (p.Lys1780Ter) c.5323A>T (p.Lys1775Ter) | |
| 9 | g.128617645A>C | CA375075715 | SPTAN1 | c.5399A>C (p.Lys1800Thr) c.5363A>C (p.Lys1788Thr) c.4826A>C (p.Lys1609Thr) c.2986A>C c.973A>C n.591A>C c.5288A>C (p.Lys1763Thr) c.5348A>C (p.Lys1783Thr) c.5303A>C (p.Lys1768Thr) c.5384A>C (p.Lys1795Thr) c.5339A>C (p.Lys1780Thr) c.5324A>C (p.Lys1775Thr) | |
| 9 | g.128617645A>G | CA375075717 | SPTAN1 | c.5399A>G (p.Lys1800Arg) c.5363A>G (p.Lys1788Arg) c.4826A>G (p.Lys1609Arg) c.2986A>G c.973A>G n.591A>G c.5288A>G (p.Lys1763Arg) c.5348A>G (p.Lys1783Arg) c.5303A>G (p.Lys1768Arg) c.5384A>G (p.Lys1795Arg) c.5339A>G (p.Lys1780Arg) c.5324A>G (p.Lys1775Arg) | COSMIC COSMIC |
| 9 | g.128617645A>T | CA375075718 | SPTAN1 | c.5399A>T (p.Lys1800Met) c.5363A>T (p.Lys1788Met) c.4826A>T (p.Lys1609Met) c.2986A>T c.973A>T n.591A>T c.5288A>T (p.Lys1763Met) c.5348A>T (p.Lys1783Met) c.5303A>T (p.Lys1768Met) c.5384A>T (p.Lys1795Met) c.5339A>T (p.Lys1780Met) c.5324A>T (p.Lys1775Met) | |
| 9 | g.128617646G>A | CA467303720 | SPTAN1 | c.5400G>A (p.Lys1800=) c.5364G>A (p.Lys1788=) c.4827G>A (p.Lys1609=) c.2987G>A c.974G>A n.592G>A c.5289G>A (p.Lys1763=) c.5349G>A (p.Lys1783=) c.5304G>A (p.Lys1768=) c.5385G>A (p.Lys1795=) c.5340G>A (p.Lys1780=) c.5325G>A (p.Lys1775=) | |
| 9 | g.128617646G>C | CA375075720 | SPTAN1 | c.5400G>C (p.Lys1800Asn) c.5364G>C (p.Lys1788Asn) c.4827G>C (p.Lys1609Asn) c.2987G>C c.974G>C n.592G>C c.5289G>C (p.Lys1763Asn) c.5349G>C (p.Lys1783Asn) c.5304G>C (p.Lys1768Asn) c.5385G>C (p.Lys1795Asn) c.5340G>C (p.Lys1780Asn) c.5325G>C (p.Lys1775Asn) | |
| 9 | g.128617646G>T | CA375075723 | SPTAN1 | c.5400G>T (p.Lys1800Asn) c.5364G>T (p.Lys1788Asn) c.4827G>T (p.Lys1609Asn) c.2987G>T c.974G>T n.592G>T c.5289G>T (p.Lys1763Asn) c.5349G>T (p.Lys1783Asn) c.5304G>T (p.Lys1768Asn) c.5385G>T (p.Lys1795Asn) c.5340G>T (p.Lys1780Asn) c.5325G>T (p.Lys1775Asn) | |
| 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) |