Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.128617607_128617684dupCA2603154228SPTAN1c.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
9g.128617650C>ACA375075747SPTAN1c.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)
9g.128617650C=CA1880364172SPTAN1c.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=)
9g.128617650C>GCA375075751SPTAN1c.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)
9g.128617650C>TCA467303727SPTAN1c.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
9g.128617651T>ACA375075753SPTAN1c.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)
9g.128617651T>CCA375075756SPTAN1c.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)
9g.128617651T>GCA375075759SPTAN1c.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)
9g.128617652G>ACA467303732SPTAN1c.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=)
9g.128617652G>CCA467303731SPTAN1c.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=)
9g.128617652G>TCA467303730SPTAN1c.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=)
9g.128617653C>ACA375075762SPTAN1c.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)
9g.128617653C>GCA375075764SPTAN1c.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)
9g.128617653C>TCA467303735SPTAN1c.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
9g.128617654T>ACA375075767SPTAN1c.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)
9g.128617654T>CCA375075771SPTAN1c.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)
9g.128617654T>GCA375075776SPTAN1c.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)
9g.128617655G>ACA467303737SPTAN1c.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=)
9g.128617655G>CCA467303738SPTAN1c.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=)
9g.128617655G>TCA467303739SPTAN1c.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
9g.128617656G>ACA375075783SPTAN1c.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)
9g.128617656G>CCA375075782SPTAN1c.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)
9g.128617656G>TCA375075779SPTAN1c.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)
9g.128617657T>ACA375075786SPTAN1c.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)
9g.128617657T>CCA375075795SPTAN1c.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)
9g.128617657T>GCA375075792SPTAN1c.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)
9g.128617658G>ACA467303744SPTAN1c.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=)
9g.128617658G>CCA467303745SPTAN1c.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=)
9g.128617658G>TCA467303746SPTAN1c.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=)
9g.128617659G>ACA5265448SPTAN1c.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
9g.128617659G>CCA375075800SPTAN1c.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)
9g.128617659G=CA1880364173SPTAN1c.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=)
9g.128617659G>TCA375075803SPTAN1c.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)
9g.128617660G>ACA375075805SPTAN1c.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)
9g.128617660G>CCA375075808SPTAN1c.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)
9g.128617660G>TCA375075811SPTAN1c.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)
9g.128617661C>ACA467303750SPTAN1c.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=)
9g.128617661C=CA1880364174SPTAN1c.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=)
9g.128617661C>GCA467303751SPTAN1c.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=)
9g.128617661C>TCA467303752SPTAN1c.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
9g.128617662T>ACA375075813SPTAN1c.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
9g.128617662T>CCA375075815SPTAN1c.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)
9g.128617662T>GCA375075818SPTAN1c.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)
9g.128617663C>ACA375075821SPTAN1c.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)
9g.128617663C>GCA375075823SPTAN1c.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)
9g.128617663C>TCA375075826SPTAN1c.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
9g.128617664A=CA1880364175SPTAN1c.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=)
9g.128617664A>CCA467303753SPTAN1c.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
9g.128617664A>GCA467303754SPTAN1c.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
9g.128617664A>TCA467303755SPTAN1c.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=)
9g.128617665G>ACA375075844SPTAN1c.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)
9g.128617665G>CCA375075837SPTAN1c.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
9g.128617665G>TCA375075839SPTAN1c.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)
9g.128617666A>CCA375075849SPTAN1c.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)
9g.128617666A>GCA375075851SPTAN1c.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)
9g.128617666A>TCA375075854SPTAN1c.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)
9g.128617667G>ACA467303756SPTAN1c.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=)
9g.128617667G>CCA375075858SPTAN1c.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)
9g.128617667G>TCA375075861SPTAN1c.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
9g.128617668G>ACA375075864SPTAN1c.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
9g.128617668G>CCA375075866SPTAN1c.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)
9g.128617668G=CA1880364176SPTAN1c.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=)
9g.128617668G>TCA375075873SPTAN1c.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)
9g.128617669A>CCA375075877SPTAN1c.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)
9g.128617669A>GCA375075879SPTAN1c.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)
9g.128617669A>TCA375075882SPTAN1c.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)
9g.128617670C>ACA375075889SPTAN1c.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)
9g.128617670C>GCA375075886SPTAN1c.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
9g.128617670C>TCA467303757SPTAN1c.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=)
9g.128617671T>ACA375075895SPTAN1c.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)
9g.128617671T>CCA375075912SPTAN1c.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)
9g.128617671T>GCA375075916SPTAN1c.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)
9g.128617672A=CA1880364177SPTAN1c.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=)
9g.128617672A>CCA375075921SPTAN1c.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
9g.128617672A>GCA375075923SPTAN1c.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
9g.128617672A>TCA375075926SPTAN1c.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)
9g.128617673C>ACA375075930SPTAN1c.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)
9g.128617673C=CA1880364178SPTAN1c.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=)
9g.128617673C>GCA375075934SPTAN1c.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
9g.128617673C>TCA5265449SPTAN1c.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
9g.128617674G>ACA5265450SPTAN1c.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
9g.128617674G>CCA375075943SPTAN1c.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)
9g.128617674G=CA1880364179SPTAN1c.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=)
9g.128617674G>TCA375075946SPTAN1c.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
9g.128617675G>ACA375075951SPTAN1c.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)
9g.128617675G>CCA375075952SPTAN1c.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)
9g.128617675G>TCA375075950SPTAN1c.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)
9g.128617676C>ACA467303758SPTAN1c.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=)
9g.128617676C>GCA467303759SPTAN1c.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=)
9g.128617676C>TCA467303760SPTAN1c.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=)
9g.128617677C>ACA467303761SPTAN1c.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=)
9g.128617677C>GCA375075953SPTAN1c.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)
9g.128617677C>TCA375075954SPTAN1c.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
9g.128617678G>ACA375075956SPTAN1c.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
9g.128617678G>CCA375075960SPTAN1c.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)
9g.128617678G>TCA375075961SPTAN1c.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)
9g.128617679G>ACA467303762SPTAN1c.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=)
9g.128617679G>CCA467303763SPTAN1c.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=)
9g.128617679G>TCA467303764SPTAN1c.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=)
9g.128617680G>ACA375075972SPTAN1c.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)
9g.128617680G>CCA375075966SPTAN1c.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)
9g.128617680G>TCA375075968SPTAN1c.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)
9g.128617681A>CCA375075977SPTAN1c.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)
9g.128617681A>GCA375075979SPTAN1c.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)
9g.128617681A>TCA375075981SPTAN1c.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)
9g.128617682C>ACA375075985SPTAN1c.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)
9g.128617682C=CA1880364180SPTAN1c.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=)
9g.128617682C>GCA375075992SPTAN1c.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
9g.128617682C>TCA5265451SPTAN1c.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
9g.128617683C>ACA375075997SPTAN1c.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)
9g.128617683C>GCA375076010SPTAN1c.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)
9g.128617683C>TCA467303765SPTAN1c.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=)
9g.128617684T>ACA375076015SPTAN1c.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)
9g.128617684T>CCA375076023SPTAN1c.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)
9g.128617684T>GCA375076019SPTAN1c.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)
9g.128617685A=CA1880364181SPTAN1c.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=)
9g.128617685A>CCA467303766SPTAN1c.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=)
9g.128617685A>GCA467303767SPTAN1c.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
9g.128617685A>TCA467303768SPTAN1c.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=)
9g.128617686A>CCA375076027SPTAN1c.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)
9g.128617686A>GCA375076032SPTAN1c.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)
9g.128617686A>TCA375076031SPTAN1c.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)
9g.128617687C>ACA375076036SPTAN1c.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)
9g.128617687C>GCA375076044SPTAN1c.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)
9g.128617687C>TCA375076042SPTAN1c.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)
9g.128617688C>ACA467303769SPTAN1c.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
9g.128617688C=CA1630847997SPTAN1c.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=)
9g.128617688C>GCA173576SPTAN1c.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
9g.128617688C>TCA295184SPTAN1c.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
9g.128617689G>ACA375076055SPTAN1c.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
9g.128617689G>CCA375076056SPTAN1c.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)
9g.128617689G=CA1880364182SPTAN1c.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=)
9g.128617689G>TCA375076057SPTAN1c.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)
9g.128617690G>ACA375076059SPTAN1c.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)
9g.128617690G>CCA375076062SPTAN1c.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)
9g.128617690G>TCA375076067SPTAN1c.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)
9g.128617691C>ACA467303770SPTAN1c.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
9g.128617691C=CA1880364183SPTAN1c.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=)
9g.128617691C>GCA467303771SPTAN1c.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=)
9g.128617691C>TCA5265452SPTAN1c.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
9g.128617692G>ACA375076073SPTAN1c.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
9g.128617692G>CCA375076077SPTAN1c.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)
9g.128617692G>TCA375076079SPTAN1c.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)
9g.128617693T>ACA375076083SPTAN1c.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)
9g.128617693T>CCA375076092SPTAN1c.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)
9g.128617693T>GCA375076089SPTAN1c.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)
9g.128617694G>ACA467303772SPTAN1c.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=)
9g.128617694G>CCA467303774SPTAN1c.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=)
9g.128617694G>TCA467303773SPTAN1c.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=)
9g.128617695C>ACA375076096SPTAN1c.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
9g.128617695C=CA1880364184SPTAN1c.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=)
9g.128617695C>GCA375076100SPTAN1c.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)
9g.128617695C>TCA375076102SPTAN1c.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)
9g.128617696A>CCA375076107SPTAN1c.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)
9g.128617696A>GCA375076110SPTAN1c.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)
9g.128617696A>TCA375076117SPTAN1c.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)
9g.128617697G>ACA293743SPTAN1c.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
9g.128617697G>CCA375076129SPTAN1c.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)
9g.128617697G=CA1880364185SPTAN1c.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=)
9g.128617697G>TCA375076131SPTAN1c.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)
9g.128617698A>CCA375076139SPTAN1c.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)
9g.128617698A>GCA375076138SPTAN1c.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)
9g.128617698A>TCA375076135SPTAN1c.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)
9g.128617699A>CCA375076142SPTAN1c.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)
9g.128617699A>GCA375076144SPTAN1c.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)
9g.128617699A>TCA375076146SPTAN1c.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)
9g.128617700C>ACA375076147SPTAN1c.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)
9g.128617700C=CA1880364186SPTAN1c.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=)
9g.128617700C>GCA375076148SPTAN1c.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)
9g.128617700C>TCA5265453SPTAN1c.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
9g.128617701C>ACA375076150SPTAN1c.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)
9g.128617701C>GCA375076151SPTAN1c.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)
9g.128617701C>TCA467303775SPTAN1c.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=)
9g.128617702T>ACA375076153SPTAN1c.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)
9g.128617702T>CCA375076154SPTAN1c.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)
9g.128617702T>GCA375076156SPTAN1c.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)
9g.128617703G>ACA467303776SPTAN1c.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
9g.128617703G>CCA467303777SPTAN1c.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=)
9g.128617703G=CA1880364187SPTAN1c.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=)
9g.128617703G>TCA467303778SPTAN1c.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=)
9g.128617704A>CCA467303779SPTAN1c.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=)
9g.128617704A>GCA375076159SPTAN1c.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)
9g.128617704A>TCA375076162SPTAN1c.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)
9g.128617705G>ACA375076167SPTAN1c.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
9g.128617705G>CCA375076177SPTAN1c.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)
9g.128617705G>TCA375076176SPTAN1c.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)
9g.128617706G>ACA467303780SPTAN1c.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
9g.128617706G>CCA375076197SPTAN1c.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)
9g.128617706G=CA1880364188SPTAN1c.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=)
9g.128617706G>TCA375076199SPTAN1c.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)
9g.128617707A>CCA375076202SPTAN1c.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)
9g.128617707A>GCA375076205SPTAN1c.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)
9g.128617707A>TCA375076206SPTAN1c.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
9g.128617708A>CCA375076207SPTAN1c.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)
9g.128617708A>GCA375076210SPTAN1c.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)
9g.128617708A>TCA375076212SPTAN1c.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)
9g.128617709G>ACA467303781SPTAN1c.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=)
9g.128617709G>CCA375076215SPTAN1c.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)
9g.128617709G>TCA375076217SPTAN1c.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
9g.128617710A>CCA375076225SPTAN1c.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)
9g.128617710A>GCA375076227SPTAN1c.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)
9g.128617710A>TCA375076222SPTAN1c.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)
9g.128617711A>CCA375076236SPTAN1c.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)
9g.128617711A>GCA375076232SPTAN1c.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)
9g.128617711A>TCA375076233SPTAN1c.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)
9g.128617712G>ACA467303782SPTAN1c.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=)
9g.128617712G>CCA375076240SPTAN1c.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)
9g.128617712G>TCA375076243SPTAN1c.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)
9g.128617713C>ACA375076249SPTAN1c.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)
9g.128617713C>GCA375076254SPTAN1c.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)
9g.128617713C>TCA375076256SPTAN1c.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
9g.128617714A>CCA375076261SPTAN1c.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)
9g.128617714A>GCA375076262SPTAN1c.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)
9g.128617714A>TCA375076265SPTAN1c.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)
9g.128617715C>ACA375076268SPTAN1c.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
9g.128617715C=CA1880364189SPTAN1c.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=)
9g.128617715C>GCA375076269SPTAN1c.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
9g.128617715C>TCA5265454SPTAN1c.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
9g.128617716A>CCA375076287SPTAN1c.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)
9g.128617716A>GCA375076275SPTAN1c.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)
9g.128617716A>TCA375076285SPTAN1c.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)
9g.128617717A>CCA375076291SPTAN1c.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)
9g.128617717A>GCA375076293SPTAN1c.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)
9g.128617717A>TCA375076296SPTAN1c.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)
9g.128617718G>ACA467303783SPTAN1c.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=)
9g.128617718G>CCA375076299SPTAN1c.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)
9g.128617718G>TCA375076302SPTAN1c.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)
9g.128617719C>ACA173578SPTAN1c.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
9g.128617719C=CA1880364190SPTAN1c.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=)
9g.128617719C>GCA375076307SPTAN1c.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)
9g.128617719C>TCA375076321SPTAN1c.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
9g.128617720G>ACA5265455SPTAN1c.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
9g.128617720G>CCA375076328SPTAN1c.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)
9g.128617720G=CA1880364191SPTAN1c.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=)
9g.128617720G>TCA375076331SPTAN1c.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)
9g.128617721G>ACA467303784SPTAN1c.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
9g.128617721G>CCA467303785SPTAN1c.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
9g.128617721G=CA1880364192SPTAN1c.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=)
9g.128617721G>TCA5265456SPTAN1c.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
9g.128617722C>ACA375076339SPTAN1c.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)
9g.128617722C>GCA375076356SPTAN1c.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)
9g.128617722C>TCA467303786SPTAN1c.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
9g.128617723T>ACA375076374SPTAN1c.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)
9g.128617723T>CCA375076379SPTAN1c.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)
9g.128617723T>GCA375076383SPTAN1c.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)
9g.128617724G>ACA467303788SPTAN1c.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
9g.128617724G>CCA467303789SPTAN1c.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=)
9g.128617724G>TCA467303787SPTAN1c.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=)
9g.128617725G>ACA375076386SPTAN1c.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)
9g.128617725G>CCA375076389SPTAN1c.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)
9g.128617725G>TCA375076392SPTAN1c.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)
9g.128617726A=CA1880364193SPTAN1c.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=)
9g.128617726A>CCA375076401SPTAN1c.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)
9g.128617726A>GCA375076396SPTAN1c.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
9g.128617726A>TCA375076400SPTAN1c.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)
9g.128617727A>CCA375076405SPTAN1c.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)
9g.128617727A>GCA467303790SPTAN1c.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=)
9g.128617727A>TCA375076409SPTAN1c.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)
9g.128617728G>ACA375076417SPTAN1c.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)
9g.128617728G>CCA375076419SPTAN1c.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)
9g.128617728G>TCA375076426SPTAN1c.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
9g.128617729C>ACA375076432SPTAN1c.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)
9g.128617729C>GCA375076437SPTAN1c.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)
9g.128617729C>TCA375076436SPTAN1c.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)
9g.128617730A=CA1880364194SPTAN1c.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=)
9g.128617730A>CCA467303791SPTAN1c.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=)
9g.128617730A>GCA467303792SPTAN1c.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=)
9g.128617730A>TCA467303793SPTAN1c.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=)
9g.128617730_128617731insTCACTATGTTGGCCAGGCTAGTCTCCA5265457SPTAN1c.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
9g.128617731G>ACA375076446SPTAN1c.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)
9g.128617731G>CCA375076450SPTAN1c.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)
9g.128617731G>TCA375076451SPTAN1c.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)
9g.128617732A>CCA375076452SPTAN1c.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)
9g.128617732A>GCA375076453SPTAN1c.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)
9g.128617732A>TCA375076456SPTAN1c.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)
9g.128617733A>CCA375076460SPTAN1c.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)
9g.128617733A>GCA467303794SPTAN1c.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=)
9g.128617733A>TCA375076463SPTAN1c.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)
9g.128617734C>ACA375076467SPTAN1c.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)
9g.128617734C>GCA375076471SPTAN1c.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
9g.128617734C>TCA467303795SPTAN1c.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=)
9g.128617735T>ACA375076485SPTAN1c.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
9g.128617735T>CCA375076483SPTAN1c.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)
9g.128617735T>GCA375076475SPTAN1c.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)
9g.128617736G>ACA467303796SPTAN1c.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
9g.128617736G>CCA467303797SPTAN1c.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=)
9g.128617736G=CA1880364195SPTAN1c.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=)
9g.128617736G>TCA467303798SPTAN1c.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=)
9g.128617737G>ACA375076489SPTAN1c.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)
9g.128617737G>CCA5265458SPTAN1c.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
9g.128617737G=CA1880364196SPTAN1c.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=)
9g.128617737G>TCA375076496SPTAN1c.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)
9g.128617738C>ACA375076500SPTAN1c.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)
9g.128617738C>GCA375076502SPTAN1c.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)
9g.128617738C>TCA375076501SPTAN1c.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)
9g.128617739T>ACA467303799SPTAN1c.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=)
9g.128617739T>CCA467303800SPTAN1c.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=)
9g.128617739T>GCA467303801SPTAN1c.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=)
9g.128617740G>ACA375076503SPTAN1c.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
9g.128617740G>CCA375076506SPTAN1c.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)
9g.128617740G>TCA375076508SPTAN1c.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)
9g.128617741C>ACA375076522SPTAN1c.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)
9g.128617741C>GCA375076526SPTAN1c.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)
9g.128617741C>TCA375076527SPTAN1c.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
9g.128617742G>ACA302996SPTAN1c.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
9g.128617742G>CCA467303802SPTAN1c.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=)
9g.128617742G=CA1880364197SPTAN1c.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=)
9g.128617742G>TCA467303803SPTAN1c.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
9g.128617743C>ACA375076534SPTAN1c.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
9g.128617743C=CA1880364198SPTAN1c.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=)
9g.128617743C>GCA375076538SPTAN1c.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)
9g.128617743C>TCA375076540SPTAN1c.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
9g.128617744A=CA1880364199SPTAN1c.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=)
9g.128617744A>CCA375076549SPTAN1c.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
9g.128617744A>GCA375076544SPTAN1c.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
9g.128617744A>TCA375076547SPTAN1c.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)
9g.128617745T>ACA375076552SPTAN1c.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)
9g.128617745T>CCA467303804SPTAN1c.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
9g.128617745T>GCA375076554SPTAN1c.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)
9g.128617745T=CA1880364200SPTAN1c.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=)
9g.128617746G>ACA375076558SPTAN1c.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
9g.128617746G>CCA375076562SPTAN1c.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)
9g.128617746G>TCA375076564SPTAN1c.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)
9g.128617747A>CCA375076567SPTAN1c.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
9g.128617747A>GCA375076571SPTAN1c.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)
9g.128617747A>TCA375076573SPTAN1c.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)
9g.128617748G>ACA467303805SPTAN1c.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
9g.128617748G>CCA375076576SPTAN1c.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)
9g.128617748G>TCA375076577SPTAN1c.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)
9g.128617750_128617753delCA2586963921SPTAN1c.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
9g.128617749C>ACA375076583SPTAN1c.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)
9g.128617749C>GCA375076585SPTAN1c.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)
9g.128617749C>TCA375076581SPTAN1c.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)
9g.128617750C>ACA375076588SPTAN1c.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)
9g.128617750C=CA1880364201SPTAN1c.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=)
9g.128617750C>GCA375076592SPTAN1c.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)
9g.128617750C>TCA5265459SPTAN1c.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

Number of alleles fetched