Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.178531862A>CCA349411001TTN,TTN-AS1c.97049T>G (p.Leu32350Ter)
c.78134T>G (p.Leu26045Ter)
c.77933T>G (p.Leu25978Ter)
c.77558T>G (p.Leu25853Ter)
c.104753T>G (p.Leu34918Ter)
c.99830T>G (p.Leu33277Ter)
n.446+8226A>C
n.220-3870A>C
c.103850T>G (p.Leu34617Ter)
c.77744T>G (p.Leu25915Ter)
c.77603T>G (p.Leu25868Ter)
c.103646T>G (p.Leu34549Ter)
c.99044T>G (p.Leu33015Ter)
c.99041T>G (p.Leu33014Ter)
c.96083T>G (p.Leu32028Ter)
c.77699T>G (p.Leu25900Ter)
c.99194T>G (p.Leu33065Ter)
c.99191T>G (p.Leu33064Ter)
c.98624T>G (p.Leu32875Ter)
c.95966T>G (p.Leu31989Ter)
c.95885T>G (p.Leu31962Ter)
c.77648T>G (p.Leu25883Ter)
c.67502T>G (p.Leu22501Ter)
2g.178531862A>GCA349411002TTN,TTN-AS1c.97049T>C (p.Leu32350Ser)
c.78134T>C (p.Leu26045Ser)
c.77933T>C (p.Leu25978Ser)
c.77558T>C (p.Leu25853Ser)
c.104753T>C (p.Leu34918Ser)
c.99830T>C (p.Leu33277Ser)
n.446+8226A>G
n.220-3870A>G
c.103850T>C (p.Leu34617Ser)
c.77744T>C (p.Leu25915Ser)
c.77603T>C (p.Leu25868Ser)
c.103646T>C (p.Leu34549Ser)
c.99044T>C (p.Leu33015Ser)
c.99041T>C (p.Leu33014Ser)
c.96083T>C (p.Leu32028Ser)
c.77699T>C (p.Leu25900Ser)
c.99194T>C (p.Leu33065Ser)
c.99191T>C (p.Leu33064Ser)
c.98624T>C (p.Leu32875Ser)
c.95966T>C (p.Leu31989Ser)
c.95885T>C (p.Leu31962Ser)
c.77648T>C (p.Leu25883Ser)
c.67502T>C (p.Leu22501Ser)
2g.178531862A>TCA349411003TTN,TTN-AS1c.97049T>A (p.Leu32350Ter)
c.78134T>A (p.Leu26045Ter)
c.77933T>A (p.Leu25978Ter)
c.77558T>A (p.Leu25853Ter)
c.104753T>A (p.Leu34918Ter)
c.99830T>A (p.Leu33277Ter)
n.446+8226A>T
n.220-3870A>T
c.103850T>A (p.Leu34617Ter)
c.77744T>A (p.Leu25915Ter)
c.77603T>A (p.Leu25868Ter)
c.103646T>A (p.Leu34549Ter)
c.99044T>A (p.Leu33015Ter)
c.99041T>A (p.Leu33014Ter)
c.96083T>A (p.Leu32028Ter)
c.77699T>A (p.Leu25900Ter)
c.99194T>A (p.Leu33065Ter)
c.99191T>A (p.Leu33064Ter)
c.98624T>A (p.Leu32875Ter)
c.95966T>A (p.Leu31989Ter)
c.95885T>A (p.Leu31962Ter)
c.77648T>A (p.Leu25883Ter)
c.67502T>A (p.Leu22501Ter)
 ClinVar
2g.178531863A>CCA349411004TTN,TTN-AS1c.97048T>G (p.Leu32350Val)
c.78133T>G (p.Leu26045Val)
c.77932T>G (p.Leu25978Val)
c.77557T>G (p.Leu25853Val)
c.104752T>G (p.Leu34918Val)
c.99829T>G (p.Leu33277Val)
n.446+8227A>C
n.220-3869A>C
c.103849T>G (p.Leu34617Val)
c.77743T>G (p.Leu25915Val)
c.77602T>G (p.Leu25868Val)
c.103645T>G (p.Leu34549Val)
c.99043T>G (p.Leu33015Val)
c.99040T>G (p.Leu33014Val)
c.96082T>G (p.Leu32028Val)
c.77698T>G (p.Leu25900Val)
c.99193T>G (p.Leu33065Val)
c.99190T>G (p.Leu33064Val)
c.98623T>G (p.Leu32875Val)
c.95965T>G (p.Leu31989Val)
c.95884T>G (p.Leu31962Val)
c.77647T>G (p.Leu25883Val)
c.67501T>G (p.Leu22501Val)
2g.178531863A>GCA430235507TTN,TTN-AS1c.97048T>C (p.Leu32350=)
c.78133T>C (p.Leu26045=)
c.77932T>C (p.Leu25978=)
c.77557T>C (p.Leu25853=)
c.104752T>C (p.Leu34918=)
c.99829T>C (p.Leu33277=)
n.446+8227A>G
n.220-3869A>G
c.103849T>C (p.Leu34617=)
c.77743T>C (p.Leu25915=)
c.77602T>C (p.Leu25868=)
c.103645T>C (p.Leu34549=)
c.99043T>C (p.Leu33015=)
c.99040T>C (p.Leu33014=)
c.96082T>C (p.Leu32028=)
c.77698T>C (p.Leu25900=)
c.99193T>C (p.Leu33065=)
c.99190T>C (p.Leu33064=)
c.98623T>C (p.Leu32875=)
c.95965T>C (p.Leu31989=)
c.95884T>C (p.Leu31962=)
c.77647T>C (p.Leu25883=)
c.67501T>C (p.Leu22501=)
2g.178531863A>TCA349411005TTN,TTN-AS1c.97048T>A (p.Leu32350Ile)
c.78133T>A (p.Leu26045Ile)
c.77932T>A (p.Leu25978Ile)
c.77557T>A (p.Leu25853Ile)
c.104752T>A (p.Leu34918Ile)
c.99829T>A (p.Leu33277Ile)
n.446+8227A>T
n.220-3869A>T
c.103849T>A (p.Leu34617Ile)
c.77743T>A (p.Leu25915Ile)
c.77602T>A (p.Leu25868Ile)
c.103645T>A (p.Leu34549Ile)
c.99043T>A (p.Leu33015Ile)
c.99040T>A (p.Leu33014Ile)
c.96082T>A (p.Leu32028Ile)
c.77698T>A (p.Leu25900Ile)
c.99193T>A (p.Leu33065Ile)
c.99190T>A (p.Leu33064Ile)
c.98623T>A (p.Leu32875Ile)
c.95965T>A (p.Leu31989Ile)
c.95884T>A (p.Leu31962Ile)
c.77647T>A (p.Leu25883Ile)
c.67501T>A (p.Leu22501Ile)
2g.178531864A>CCA430235508TTN,TTN-AS1c.97047T>G (p.Ala32349=)
c.78132T>G (p.Ala26044=)
c.77931T>G (p.Ala25977=)
c.77556T>G (p.Ala25852=)
c.104751T>G (p.Ala34917=)
c.99828T>G (p.Ala33276=)
n.446+8228A>C
n.220-3868A>C
c.103848T>G (p.Ala34616=)
c.77742T>G (p.Ala25914=)
c.77601T>G (p.Ala25867=)
c.103644T>G (p.Ala34548=)
c.99042T>G (p.Ala33014=)
c.99039T>G (p.Ala33013=)
c.96081T>G (p.Ala32027=)
c.77697T>G (p.Ala25899=)
c.99192T>G (p.Ala33064=)
c.99189T>G (p.Ala33063=)
c.98622T>G (p.Ala32874=)
c.95964T>G (p.Ala31988=)
c.95883T>G (p.Ala31961=)
c.77646T>G (p.Ala25882=)
c.67500T>G (p.Ala22500=)
 ClinVar dbSNP
2g.178531864A>GCA430235509TTN,TTN-AS1c.97047T>C (p.Ala32349=)
c.78132T>C (p.Ala26044=)
c.77931T>C (p.Ala25977=)
c.77556T>C (p.Ala25852=)
c.104751T>C (p.Ala34917=)
c.99828T>C (p.Ala33276=)
n.446+8228A>G
n.220-3868A>G
c.103848T>C (p.Ala34616=)
c.77742T>C (p.Ala25914=)
c.77601T>C (p.Ala25867=)
c.103644T>C (p.Ala34548=)
c.99042T>C (p.Ala33014=)
c.99039T>C (p.Ala33013=)
c.96081T>C (p.Ala32027=)
c.77697T>C (p.Ala25899=)
c.99192T>C (p.Ala33064=)
c.99189T>C (p.Ala33063=)
c.98622T>C (p.Ala32874=)
c.95964T>C (p.Ala31988=)
c.95883T>C (p.Ala31961=)
c.77646T>C (p.Ala25882=)
c.67500T>C (p.Ala22500=)
 ClinVar
2g.178531864A>TCA430235510TTN,TTN-AS1c.97047T>A (p.Ala32349=)
c.78132T>A (p.Ala26044=)
c.77931T>A (p.Ala25977=)
c.77556T>A (p.Ala25852=)
c.104751T>A (p.Ala34917=)
c.99828T>A (p.Ala33276=)
n.446+8228A>T
n.220-3868A>T
c.103848T>A (p.Ala34616=)
c.77742T>A (p.Ala25914=)
c.77601T>A (p.Ala25867=)
c.103644T>A (p.Ala34548=)
c.99042T>A (p.Ala33014=)
c.99039T>A (p.Ala33013=)
c.96081T>A (p.Ala32027=)
c.77697T>A (p.Ala25899=)
c.99192T>A (p.Ala33064=)
c.99189T>A (p.Ala33063=)
c.98622T>A (p.Ala32874=)
c.95964T>A (p.Ala31988=)
c.95883T>A (p.Ala31961=)
c.77646T>A (p.Ala25882=)
c.67500T>A (p.Ala22500=)
2g.178531865G>ACA1985366TTN,TTN-AS1c.97046C>T (p.Ala32349Val)
c.78131C>T (p.Ala26044Val)
c.77930C>T (p.Ala25977Val)
c.77555C>T (p.Ala25852Val)
c.104750C>T (p.Ala34917Val)
c.99827C>T (p.Ala33276Val)
n.446+8229G>A
n.220-3867G>A
c.103847C>T (p.Ala34616Val)
c.77741C>T (p.Ala25914Val)
c.77600C>T (p.Ala25867Val)
c.103643C>T (p.Ala34548Val)
c.99041C>T (p.Ala33014Val)
c.99038C>T (p.Ala33013Val)
c.96080C>T (p.Ala32027Val)
c.77696C>T (p.Ala25899Val)
c.99191C>T (p.Ala33064Val)
c.99188C>T (p.Ala33063Val)
c.98621C>T (p.Ala32874Val)
c.95963C>T (p.Ala31988Val)
c.95882C>T (p.Ala31961Val)
c.77645C>T (p.Ala25882Val)
c.67499C>T (p.Ala22500Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.178531865G>CCA349411007TTN,TTN-AS1c.97046C>G (p.Ala32349Gly)
c.78131C>G (p.Ala26044Gly)
c.77930C>G (p.Ala25977Gly)
c.77555C>G (p.Ala25852Gly)
c.104750C>G (p.Ala34917Gly)
c.99827C>G (p.Ala33276Gly)
n.446+8229G>C
n.220-3867G>C
c.103847C>G (p.Ala34616Gly)
c.77741C>G (p.Ala25914Gly)
c.77600C>G (p.Ala25867Gly)
c.103643C>G (p.Ala34548Gly)
c.99041C>G (p.Ala33014Gly)
c.99038C>G (p.Ala33013Gly)
c.96080C>G (p.Ala32027Gly)
c.77696C>G (p.Ala25899Gly)
c.99191C>G (p.Ala33064Gly)
c.99188C>G (p.Ala33063Gly)
c.98621C>G (p.Ala32874Gly)
c.95963C>G (p.Ala31988Gly)
c.95882C>G (p.Ala31961Gly)
c.77645C>G (p.Ala25882Gly)
c.67499C>G (p.Ala22500Gly)
2g.178531865G=CA1310517954TTN,TTN-AS1c.97046C= (p.Ala32349=)
c.78131C= (p.Ala26044=)
c.77930C= (p.Ala25977=)
c.77555C= (p.Ala25852=)
c.104750C= (p.Ala34917=)
c.99827C= (p.Ala33276=)
n.446+8229G=
n.220-3867G=
c.103847C= (p.Ala34616=)
c.77741C= (p.Ala25914=)
c.77600C= (p.Ala25867=)
c.103643C= (p.Ala34548=)
c.99041C= (p.Ala33014=)
c.99038C= (p.Ala33013=)
c.96080C= (p.Ala32027=)
c.77696C= (p.Ala25899=)
c.99191C= (p.Ala33064=)
c.99188C= (p.Ala33063=)
c.98621C= (p.Ala32874=)
c.95963C= (p.Ala31988=)
c.95882C= (p.Ala31961=)
c.77645C= (p.Ala25882=)
c.67499C= (p.Ala22500=)
2g.178531865G>TCA349411006TTN,TTN-AS1c.97046C>A (p.Ala32349Asp)
c.78131C>A (p.Ala26044Asp)
c.77930C>A (p.Ala25977Asp)
c.77555C>A (p.Ala25852Asp)
c.104750C>A (p.Ala34917Asp)
c.99827C>A (p.Ala33276Asp)
n.446+8229G>T
n.220-3867G>T
c.103847C>A (p.Ala34616Asp)
c.77741C>A (p.Ala25914Asp)
c.77600C>A (p.Ala25867Asp)
c.103643C>A (p.Ala34548Asp)
c.99041C>A (p.Ala33014Asp)
c.99038C>A (p.Ala33013Asp)
c.96080C>A (p.Ala32027Asp)
c.77696C>A (p.Ala25899Asp)
c.99191C>A (p.Ala33064Asp)
c.99188C>A (p.Ala33063Asp)
c.98621C>A (p.Ala32874Asp)
c.95963C>A (p.Ala31988Asp)
c.95882C>A (p.Ala31961Asp)
c.77645C>A (p.Ala25882Asp)
c.67499C>A (p.Ala22500Asp)
2g.178531866C>ACA349411008TTN,TTN-AS1c.97045G>T (p.Ala32349Ser)
c.78130G>T (p.Ala26044Ser)
c.77929G>T (p.Ala25977Ser)
c.77554G>T (p.Ala25852Ser)
c.104749G>T (p.Ala34917Ser)
c.99826G>T (p.Ala33276Ser)
n.446+8230C>A
n.220-3866C>A
c.103846G>T (p.Ala34616Ser)
c.77740G>T (p.Ala25914Ser)
c.77599G>T (p.Ala25867Ser)
c.103642G>T (p.Ala34548Ser)
c.99040G>T (p.Ala33014Ser)
c.99037G>T (p.Ala33013Ser)
c.96079G>T (p.Ala32027Ser)
c.77695G>T (p.Ala25899Ser)
c.99190G>T (p.Ala33064Ser)
c.99187G>T (p.Ala33063Ser)
c.98620G>T (p.Ala32874Ser)
c.95962G>T (p.Ala31988Ser)
c.95881G>T (p.Ala31961Ser)
c.77644G>T (p.Ala25882Ser)
c.67498G>T (p.Ala22500Ser)
2g.178531866C>GCA349411010TTN,TTN-AS1c.97045G>C (p.Ala32349Pro)
c.78130G>C (p.Ala26044Pro)
c.77929G>C (p.Ala25977Pro)
c.77554G>C (p.Ala25852Pro)
c.104749G>C (p.Ala34917Pro)
c.99826G>C (p.Ala33276Pro)
n.446+8230C>G
n.220-3866C>G
c.103846G>C (p.Ala34616Pro)
c.77740G>C (p.Ala25914Pro)
c.77599G>C (p.Ala25867Pro)
c.103642G>C (p.Ala34548Pro)
c.99040G>C (p.Ala33014Pro)
c.99037G>C (p.Ala33013Pro)
c.96079G>C (p.Ala32027Pro)
c.77695G>C (p.Ala25899Pro)
c.99190G>C (p.Ala33064Pro)
c.99187G>C (p.Ala33063Pro)
c.98620G>C (p.Ala32874Pro)
c.95962G>C (p.Ala31988Pro)
c.95881G>C (p.Ala31961Pro)
c.77644G>C (p.Ala25882Pro)
c.67498G>C (p.Ala22500Pro)
2g.178531866C>TCA349411009TTN,TTN-AS1c.97045G>A (p.Ala32349Thr)
c.78130G>A (p.Ala26044Thr)
c.77929G>A (p.Ala25977Thr)
c.77554G>A (p.Ala25852Thr)
c.104749G>A (p.Ala34917Thr)
c.99826G>A (p.Ala33276Thr)
n.446+8230C>T
n.220-3866C>T
c.103846G>A (p.Ala34616Thr)
c.77740G>A (p.Ala25914Thr)
c.77599G>A (p.Ala25867Thr)
c.103642G>A (p.Ala34548Thr)
c.99040G>A (p.Ala33014Thr)
c.99037G>A (p.Ala33013Thr)
c.96079G>A (p.Ala32027Thr)
c.77695G>A (p.Ala25899Thr)
c.99190G>A (p.Ala33064Thr)
c.99187G>A (p.Ala33063Thr)
c.98620G>A (p.Ala32874Thr)
c.95962G>A (p.Ala31988Thr)
c.95881G>A (p.Ala31961Thr)
c.77644G>A (p.Ala25882Thr)
c.67498G>A (p.Ala22500Thr)
2g.178531867A>CCA430235515TTN,TTN-AS1c.97044T>G (p.Ala32348=)
c.78129T>G (p.Ala26043=)
c.77928T>G (p.Ala25976=)
c.77553T>G (p.Ala25851=)
c.104748T>G (p.Ala34916=)
c.99825T>G (p.Ala33275=)
n.446+8231A>C
n.220-3865A>C
c.103845T>G (p.Ala34615=)
c.77739T>G (p.Ala25913=)
c.77598T>G (p.Ala25866=)
c.103641T>G (p.Ala34547=)
c.99039T>G (p.Ala33013=)
c.99036T>G (p.Ala33012=)
c.96078T>G (p.Ala32026=)
c.77694T>G (p.Ala25898=)
c.99189T>G (p.Ala33063=)
c.99186T>G (p.Ala33062=)
c.98619T>G (p.Ala32873=)
c.95961T>G (p.Ala31987=)
c.95880T>G (p.Ala31960=)
c.77643T>G (p.Ala25881=)
c.67497T>G (p.Ala22499=)
2g.178531867A>GCA430235516TTN,TTN-AS1c.97044T>C (p.Ala32348=)
c.78129T>C (p.Ala26043=)
c.77928T>C (p.Ala25976=)
c.77553T>C (p.Ala25851=)
c.104748T>C (p.Ala34916=)
c.99825T>C (p.Ala33275=)
n.446+8231A>G
n.220-3865A>G
c.103845T>C (p.Ala34615=)
c.77739T>C (p.Ala25913=)
c.77598T>C (p.Ala25866=)
c.103641T>C (p.Ala34547=)
c.99039T>C (p.Ala33013=)
c.99036T>C (p.Ala33012=)
c.96078T>C (p.Ala32026=)
c.77694T>C (p.Ala25898=)
c.99189T>C (p.Ala33063=)
c.99186T>C (p.Ala33062=)
c.98619T>C (p.Ala32873=)
c.95961T>C (p.Ala31987=)
c.95880T>C (p.Ala31960=)
c.77643T>C (p.Ala25881=)
c.67497T>C (p.Ala22499=)
2g.178531867A>TCA430235517TTN,TTN-AS1c.97044T>A (p.Ala32348=)
c.78129T>A (p.Ala26043=)
c.77928T>A (p.Ala25976=)
c.77553T>A (p.Ala25851=)
c.104748T>A (p.Ala34916=)
c.99825T>A (p.Ala33275=)
n.446+8231A>T
n.220-3865A>T
c.103845T>A (p.Ala34615=)
c.77739T>A (p.Ala25913=)
c.77598T>A (p.Ala25866=)
c.103641T>A (p.Ala34547=)
c.99039T>A (p.Ala33013=)
c.99036T>A (p.Ala33012=)
c.96078T>A (p.Ala32026=)
c.77694T>A (p.Ala25898=)
c.99189T>A (p.Ala33063=)
c.99186T>A (p.Ala33062=)
c.98619T>A (p.Ala32873=)
c.95961T>A (p.Ala31987=)
c.95880T>A (p.Ala31960=)
c.77643T>A (p.Ala25881=)
c.67497T>A (p.Ala22499=)
2g.178531868G>ACA349411011TTN,TTN-AS1c.97043C>T (p.Ala32348Val)
c.78128C>T (p.Ala26043Val)
c.77927C>T (p.Ala25976Val)
c.77552C>T (p.Ala25851Val)
c.104747C>T (p.Ala34916Val)
c.99824C>T (p.Ala33275Val)
n.446+8232G>A
n.220-3864G>A
c.103844C>T (p.Ala34615Val)
c.77738C>T (p.Ala25913Val)
c.77597C>T (p.Ala25866Val)
c.103640C>T (p.Ala34547Val)
c.99038C>T (p.Ala33013Val)
c.99035C>T (p.Ala33012Val)
c.96077C>T (p.Ala32026Val)
c.77693C>T (p.Ala25898Val)
c.99188C>T (p.Ala33063Val)
c.99185C>T (p.Ala33062Val)
c.98618C>T (p.Ala32873Val)
c.95960C>T (p.Ala31987Val)
c.95879C>T (p.Ala31960Val)
c.77642C>T (p.Ala25881Val)
c.67496C>T (p.Ala22499Val)
 ClinVar gnomAD v4
2g.178531868G>CCA349411012TTN,TTN-AS1c.97043C>G (p.Ala32348Gly)
c.78128C>G (p.Ala26043Gly)
c.77927C>G (p.Ala25976Gly)
c.77552C>G (p.Ala25851Gly)
c.104747C>G (p.Ala34916Gly)
c.99824C>G (p.Ala33275Gly)
n.446+8232G>C
n.220-3864G>C
c.103844C>G (p.Ala34615Gly)
c.77738C>G (p.Ala25913Gly)
c.77597C>G (p.Ala25866Gly)
c.103640C>G (p.Ala34547Gly)
c.99038C>G (p.Ala33013Gly)
c.99035C>G (p.Ala33012Gly)
c.96077C>G (p.Ala32026Gly)
c.77693C>G (p.Ala25898Gly)
c.99188C>G (p.Ala33063Gly)
c.99185C>G (p.Ala33062Gly)
c.98618C>G (p.Ala32873Gly)
c.95960C>G (p.Ala31987Gly)
c.95879C>G (p.Ala31960Gly)
c.77642C>G (p.Ala25881Gly)
c.67496C>G (p.Ala22499Gly)
2g.178531868G>TCA349411013TTN,TTN-AS1c.97043C>A (p.Ala32348Asp)
c.78128C>A (p.Ala26043Asp)
c.77927C>A (p.Ala25976Asp)
c.77552C>A (p.Ala25851Asp)
c.104747C>A (p.Ala34916Asp)
c.99824C>A (p.Ala33275Asp)
n.446+8232G>T
n.220-3864G>T
c.103844C>A (p.Ala34615Asp)
c.77738C>A (p.Ala25913Asp)
c.77597C>A (p.Ala25866Asp)
c.103640C>A (p.Ala34547Asp)
c.99038C>A (p.Ala33013Asp)
c.99035C>A (p.Ala33012Asp)
c.96077C>A (p.Ala32026Asp)
c.77693C>A (p.Ala25898Asp)
c.99188C>A (p.Ala33063Asp)
c.99185C>A (p.Ala33062Asp)
c.98618C>A (p.Ala32873Asp)
c.95960C>A (p.Ala31987Asp)
c.95879C>A (p.Ala31960Asp)
c.77642C>A (p.Ala25881Asp)
c.67496C>A (p.Ala22499Asp)
2g.178531869C>ACA349411014TTN,TTN-AS1c.97042G>T (p.Ala32348Ser)
c.78127G>T (p.Ala26043Ser)
c.77926G>T (p.Ala25976Ser)
c.77551G>T (p.Ala25851Ser)
c.104746G>T (p.Ala34916Ser)
c.99823G>T (p.Ala33275Ser)
n.446+8233C>A
n.220-3863C>A
c.103843G>T (p.Ala34615Ser)
c.77737G>T (p.Ala25913Ser)
c.77596G>T (p.Ala25866Ser)
c.103639G>T (p.Ala34547Ser)
c.99037G>T (p.Ala33013Ser)
c.99034G>T (p.Ala33012Ser)
c.96076G>T (p.Ala32026Ser)
c.77692G>T (p.Ala25898Ser)
c.99187G>T (p.Ala33063Ser)
c.99184G>T (p.Ala33062Ser)
c.98617G>T (p.Ala32873Ser)
c.95959G>T (p.Ala31987Ser)
c.95878G>T (p.Ala31960Ser)
c.77641G>T (p.Ala25881Ser)
c.67495G>T (p.Ala22499Ser)
2g.178531869C=CA1310517955TTN,TTN-AS1c.97042G= (p.Ala32348=)
c.78127G= (p.Ala26043=)
c.77926G= (p.Ala25976=)
c.77551G= (p.Ala25851=)
c.104746G= (p.Ala34916=)
c.99823G= (p.Ala33275=)
n.446+8233C=
n.220-3863C=
c.103843G= (p.Ala34615=)
c.77737G= (p.Ala25913=)
c.77596G= (p.Ala25866=)
c.103639G= (p.Ala34547=)
c.99037G= (p.Ala33013=)
c.99034G= (p.Ala33012=)
c.96076G= (p.Ala32026=)
c.77692G= (p.Ala25898=)
c.99187G= (p.Ala33063=)
c.99184G= (p.Ala33062=)
c.98617G= (p.Ala32873=)
c.95959G= (p.Ala31987=)
c.95878G= (p.Ala31960=)
c.77641G= (p.Ala25881=)
c.67495G= (p.Ala22499=)
2g.178531869C>GCA349411015TTN,TTN-AS1c.97042G>C (p.Ala32348Pro)
c.78127G>C (p.Ala26043Pro)
c.77926G>C (p.Ala25976Pro)
c.77551G>C (p.Ala25851Pro)
c.104746G>C (p.Ala34916Pro)
c.99823G>C (p.Ala33275Pro)
n.446+8233C>G
n.220-3863C>G
c.103843G>C (p.Ala34615Pro)
c.77737G>C (p.Ala25913Pro)
c.77596G>C (p.Ala25866Pro)
c.103639G>C (p.Ala34547Pro)
c.99037G>C (p.Ala33013Pro)
c.99034G>C (p.Ala33012Pro)
c.96076G>C (p.Ala32026Pro)
c.77692G>C (p.Ala25898Pro)
c.99187G>C (p.Ala33063Pro)
c.99184G>C (p.Ala33062Pro)
c.98617G>C (p.Ala32873Pro)
c.95959G>C (p.Ala31987Pro)
c.95878G>C (p.Ala31960Pro)
c.77641G>C (p.Ala25881Pro)
c.67495G>C (p.Ala22499Pro)
2g.178531869C>TCA1985367TTN,TTN-AS1c.97042G>A (p.Ala32348Thr)
c.78127G>A (p.Ala26043Thr)
c.77926G>A (p.Ala25976Thr)
c.77551G>A (p.Ala25851Thr)
c.104746G>A (p.Ala34916Thr)
c.99823G>A (p.Ala33275Thr)
n.446+8233C>T
n.220-3863C>T
c.103843G>A (p.Ala34615Thr)
c.77737G>A (p.Ala25913Thr)
c.77596G>A (p.Ala25866Thr)
c.103639G>A (p.Ala34547Thr)
c.99037G>A (p.Ala33013Thr)
c.99034G>A (p.Ala33012Thr)
c.96076G>A (p.Ala32026Thr)
c.77692G>A (p.Ala25898Thr)
c.99187G>A (p.Ala33063Thr)
c.99184G>A (p.Ala33062Thr)
c.98617G>A (p.Ala32873Thr)
c.95959G>A (p.Ala31987Thr)
c.95878G>A (p.Ala31960Thr)
c.77641G>A (p.Ala25881Thr)
c.67495G>A (p.Ala22499Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.178531870T>ACA349411016TTN,TTN-AS1c.97041A>T (p.Lys32347Asn)
c.78126A>T (p.Lys26042Asn)
c.77925A>T (p.Lys25975Asn)
c.77550A>T (p.Lys25850Asn)
c.104745A>T (p.Lys34915Asn)
c.99822A>T (p.Lys33274Asn)
n.446+8234T>A
n.220-3862T>A
c.103842A>T (p.Lys34614Asn)
c.77736A>T (p.Lys25912Asn)
c.77595A>T (p.Lys25865Asn)
c.103638A>T (p.Lys34546Asn)
c.99036A>T (p.Lys33012Asn)
c.99033A>T (p.Lys33011Asn)
c.96075A>T (p.Lys32025Asn)
c.77691A>T (p.Lys25897Asn)
c.99186A>T (p.Lys33062Asn)
c.99183A>T (p.Lys33061Asn)
c.98616A>T (p.Lys32872Asn)
c.95958A>T (p.Lys31986Asn)
c.95877A>T (p.Lys31959Asn)
c.77640A>T (p.Lys25880Asn)
c.67494A>T (p.Lys22498Asn)
2g.178531870T>CCA430235521TTN,TTN-AS1c.97041A>G (p.Lys32347=)
c.78126A>G (p.Lys26042=)
c.77925A>G (p.Lys25975=)
c.77550A>G (p.Lys25850=)
c.104745A>G (p.Lys34915=)
c.99822A>G (p.Lys33274=)
n.446+8234T>C
n.220-3862T>C
c.103842A>G (p.Lys34614=)
c.77736A>G (p.Lys25912=)
c.77595A>G (p.Lys25865=)
c.103638A>G (p.Lys34546=)
c.99036A>G (p.Lys33012=)
c.99033A>G (p.Lys33011=)
c.96075A>G (p.Lys32025=)
c.77691A>G (p.Lys25897=)
c.99186A>G (p.Lys33062=)
c.99183A>G (p.Lys33061=)
c.98616A>G (p.Lys32872=)
c.95958A>G (p.Lys31986=)
c.95877A>G (p.Lys31959=)
c.77640A>G (p.Lys25880=)
c.67494A>G (p.Lys22498=)
2g.178531870T>GCA349411017TTN,TTN-AS1c.97041A>C (p.Lys32347Asn)
c.78126A>C (p.Lys26042Asn)
c.77925A>C (p.Lys25975Asn)
c.77550A>C (p.Lys25850Asn)
c.104745A>C (p.Lys34915Asn)
c.99822A>C (p.Lys33274Asn)
n.446+8234T>G
n.220-3862T>G
c.103842A>C (p.Lys34614Asn)
c.77736A>C (p.Lys25912Asn)
c.77595A>C (p.Lys25865Asn)
c.103638A>C (p.Lys34546Asn)
c.99036A>C (p.Lys33012Asn)
c.99033A>C (p.Lys33011Asn)
c.96075A>C (p.Lys32025Asn)
c.77691A>C (p.Lys25897Asn)
c.99186A>C (p.Lys33062Asn)
c.99183A>C (p.Lys33061Asn)
c.98616A>C (p.Lys32872Asn)
c.95958A>C (p.Lys31986Asn)
c.95877A>C (p.Lys31959Asn)
c.77640A>C (p.Lys25880Asn)
c.67494A>C (p.Lys22498Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178531870T=CA1310517956TTN,TTN-AS1c.97041A= (p.Lys32347=)
c.78126A= (p.Lys26042=)
c.77925A= (p.Lys25975=)
c.77550A= (p.Lys25850=)
c.104745A= (p.Lys34915=)
c.99822A= (p.Lys33274=)
n.446+8234T=
n.220-3862T=
c.103842A= (p.Lys34614=)
c.77736A= (p.Lys25912=)
c.77595A= (p.Lys25865=)
c.103638A= (p.Lys34546=)
c.99036A= (p.Lys33012=)
c.99033A= (p.Lys33011=)
c.96075A= (p.Lys32025=)
c.77691A= (p.Lys25897=)
c.99186A= (p.Lys33062=)
c.99183A= (p.Lys33061=)
c.98616A= (p.Lys32872=)
c.95958A= (p.Lys31986=)
c.95877A= (p.Lys31959=)
c.77640A= (p.Lys25880=)
c.67494A= (p.Lys22498=)
2g.178531871T>ACA349411018TTN,TTN-AS1c.97040A>T (p.Lys32347Ile)
c.78125A>T (p.Lys26042Ile)
c.77924A>T (p.Lys25975Ile)
c.77549A>T (p.Lys25850Ile)
c.104744A>T (p.Lys34915Ile)
c.99821A>T (p.Lys33274Ile)
n.446+8235T>A
n.220-3861T>A
c.103841A>T (p.Lys34614Ile)
c.77735A>T (p.Lys25912Ile)
c.77594A>T (p.Lys25865Ile)
c.103637A>T (p.Lys34546Ile)
c.99035A>T (p.Lys33012Ile)
c.99032A>T (p.Lys33011Ile)
c.96074A>T (p.Lys32025Ile)
c.77690A>T (p.Lys25897Ile)
c.99185A>T (p.Lys33062Ile)
c.99182A>T (p.Lys33061Ile)
c.98615A>T (p.Lys32872Ile)
c.95957A>T (p.Lys31986Ile)
c.95876A>T (p.Lys31959Ile)
c.77639A>T (p.Lys25880Ile)
c.67493A>T (p.Lys22498Ile)
2g.178531871T>CCA349411019TTN,TTN-AS1c.97040A>G (p.Lys32347Arg)
c.78125A>G (p.Lys26042Arg)
c.77924A>G (p.Lys25975Arg)
c.77549A>G (p.Lys25850Arg)
c.104744A>G (p.Lys34915Arg)
c.99821A>G (p.Lys33274Arg)
n.446+8235T>C
n.220-3861T>C
c.103841A>G (p.Lys34614Arg)
c.77735A>G (p.Lys25912Arg)
c.77594A>G (p.Lys25865Arg)
c.103637A>G (p.Lys34546Arg)
c.99035A>G (p.Lys33012Arg)
c.99032A>G (p.Lys33011Arg)
c.96074A>G (p.Lys32025Arg)
c.77690A>G (p.Lys25897Arg)
c.99185A>G (p.Lys33062Arg)
c.99182A>G (p.Lys33061Arg)
c.98615A>G (p.Lys32872Arg)
c.95957A>G (p.Lys31986Arg)
c.95876A>G (p.Lys31959Arg)
c.77639A>G (p.Lys25880Arg)
c.67493A>G (p.Lys22498Arg)
2g.178531871T>GCA349411020TTN,TTN-AS1c.97040A>C (p.Lys32347Thr)
c.78125A>C (p.Lys26042Thr)
c.77924A>C (p.Lys25975Thr)
c.77549A>C (p.Lys25850Thr)
c.104744A>C (p.Lys34915Thr)
c.99821A>C (p.Lys33274Thr)
n.446+8235T>G
n.220-3861T>G
c.103841A>C (p.Lys34614Thr)
c.77735A>C (p.Lys25912Thr)
c.77594A>C (p.Lys25865Thr)
c.103637A>C (p.Lys34546Thr)
c.99035A>C (p.Lys33012Thr)
c.99032A>C (p.Lys33011Thr)
c.96074A>C (p.Lys32025Thr)
c.77690A>C (p.Lys25897Thr)
c.99185A>C (p.Lys33062Thr)
c.99182A>C (p.Lys33061Thr)
c.98615A>C (p.Lys32872Thr)
c.95957A>C (p.Lys31986Thr)
c.95876A>C (p.Lys31959Thr)
c.77639A>C (p.Lys25880Thr)
c.67493A>C (p.Lys22498Thr)
2g.178531872T>ACA349411023TTN,TTN-AS1c.97039A>T (p.Lys32347Ter)
c.78124A>T (p.Lys26042Ter)
c.77923A>T (p.Lys25975Ter)
c.77548A>T (p.Lys25850Ter)
c.104743A>T (p.Lys34915Ter)
c.99820A>T (p.Lys33274Ter)
n.446+8236T>A
n.220-3860T>A
c.103840A>T (p.Lys34614Ter)
c.77734A>T (p.Lys25912Ter)
c.77593A>T (p.Lys25865Ter)
c.103636A>T (p.Lys34546Ter)
c.99034A>T (p.Lys33012Ter)
c.99031A>T (p.Lys33011Ter)
c.96073A>T (p.Lys32025Ter)
c.77689A>T (p.Lys25897Ter)
c.99184A>T (p.Lys33062Ter)
c.99181A>T (p.Lys33061Ter)
c.98614A>T (p.Lys32872Ter)
c.95956A>T (p.Lys31986Ter)
c.95875A>T (p.Lys31959Ter)
c.77638A>T (p.Lys25880Ter)
c.67492A>T (p.Lys22498Ter)
2g.178531872T>CCA349411022TTN,TTN-AS1c.97039A>G (p.Lys32347Glu)
c.78124A>G (p.Lys26042Glu)
c.77923A>G (p.Lys25975Glu)
c.77548A>G (p.Lys25850Glu)
c.104743A>G (p.Lys34915Glu)
c.99820A>G (p.Lys33274Glu)
n.446+8236T>C
n.220-3860T>C
c.103840A>G (p.Lys34614Glu)
c.77734A>G (p.Lys25912Glu)
c.77593A>G (p.Lys25865Glu)
c.103636A>G (p.Lys34546Glu)
c.99034A>G (p.Lys33012Glu)
c.99031A>G (p.Lys33011Glu)
c.96073A>G (p.Lys32025Glu)
c.77689A>G (p.Lys25897Glu)
c.99184A>G (p.Lys33062Glu)
c.99181A>G (p.Lys33061Glu)
c.98614A>G (p.Lys32872Glu)
c.95956A>G (p.Lys31986Glu)
c.95875A>G (p.Lys31959Glu)
c.77638A>G (p.Lys25880Glu)
c.67492A>G (p.Lys22498Glu)
2g.178531872T>GCA349411021TTN,TTN-AS1c.97039A>C (p.Lys32347Gln)
c.78124A>C (p.Lys26042Gln)
c.77923A>C (p.Lys25975Gln)
c.77548A>C (p.Lys25850Gln)
c.104743A>C (p.Lys34915Gln)
c.99820A>C (p.Lys33274Gln)
n.446+8236T>G
n.220-3860T>G
c.103840A>C (p.Lys34614Gln)
c.77734A>C (p.Lys25912Gln)
c.77593A>C (p.Lys25865Gln)
c.103636A>C (p.Lys34546Gln)
c.99034A>C (p.Lys33012Gln)
c.99031A>C (p.Lys33011Gln)
c.96073A>C (p.Lys32025Gln)
c.77689A>C (p.Lys25897Gln)
c.99184A>C (p.Lys33062Gln)
c.99181A>C (p.Lys33061Gln)
c.98614A>C (p.Lys32872Gln)
c.95956A>C (p.Lys31986Gln)
c.95875A>C (p.Lys31959Gln)
c.77638A>C (p.Lys25880Gln)
c.67492A>C (p.Lys22498Gln)
2g.178531873C>ACA349411024TTN,TTN-AS1c.97038G>T (p.Met32346Ile)
c.78123G>T (p.Met26041Ile)
c.77922G>T (p.Met25974Ile)
c.77547G>T (p.Met25849Ile)
c.104742G>T (p.Met34914Ile)
c.99819G>T (p.Met33273Ile)
n.446+8237C>A
n.220-3859C>A
c.103839G>T (p.Met34613Ile)
c.77733G>T (p.Met25911Ile)
c.77592G>T (p.Met25864Ile)
c.103635G>T (p.Met34545Ile)
c.99033G>T (p.Met33011Ile)
c.99030G>T (p.Met33010Ile)
c.96072G>T (p.Met32024Ile)
c.77688G>T (p.Met25896Ile)
c.99183G>T (p.Met33061Ile)
c.99180G>T (p.Met33060Ile)
c.98613G>T (p.Met32871Ile)
c.95955G>T (p.Met31985Ile)
c.95874G>T (p.Met31958Ile)
c.77637G>T (p.Met25879Ile)
c.67491G>T (p.Met22497Ile)
2g.178531873C=CA1310517957TTN,TTN-AS1c.97038G= (p.Met32346=)
c.78123G= (p.Met26041=)
c.77922G= (p.Met25974=)
c.77547G= (p.Met25849=)
c.104742G= (p.Met34914=)
c.99819G= (p.Met33273=)
n.446+8237C=
n.220-3859C=
c.103839G= (p.Met34613=)
c.77733G= (p.Met25911=)
c.77592G= (p.Met25864=)
c.103635G= (p.Met34545=)
c.99033G= (p.Met33011=)
c.99030G= (p.Met33010=)
c.96072G= (p.Met32024=)
c.77688G= (p.Met25896=)
c.99183G= (p.Met33061=)
c.99180G= (p.Met33060=)
c.98613G= (p.Met32871=)
c.95955G= (p.Met31985=)
c.95874G= (p.Met31958=)
c.77637G= (p.Met25879=)
c.67491G= (p.Met22497=)
2g.178531873C>GCA349411025TTN,TTN-AS1c.97038G>C (p.Met32346Ile)
c.78123G>C (p.Met26041Ile)
c.77922G>C (p.Met25974Ile)
c.77547G>C (p.Met25849Ile)
c.104742G>C (p.Met34914Ile)
c.99819G>C (p.Met33273Ile)
n.446+8237C>G
n.220-3859C>G
c.103839G>C (p.Met34613Ile)
c.77733G>C (p.Met25911Ile)
c.77592G>C (p.Met25864Ile)
c.103635G>C (p.Met34545Ile)
c.99033G>C (p.Met33011Ile)
c.99030G>C (p.Met33010Ile)
c.96072G>C (p.Met32024Ile)
c.77688G>C (p.Met25896Ile)
c.99183G>C (p.Met33061Ile)
c.99180G>C (p.Met33060Ile)
c.98613G>C (p.Met32871Ile)
c.95955G>C (p.Met31985Ile)
c.95874G>C (p.Met31958Ile)
c.77637G>C (p.Met25879Ile)
c.67491G>C (p.Met22497Ile)
2g.178531873C>TCA349411026TTN,TTN-AS1c.97038G>A (p.Met32346Ile)
c.78123G>A (p.Met26041Ile)
c.77922G>A (p.Met25974Ile)
c.77547G>A (p.Met25849Ile)
c.104742G>A (p.Met34914Ile)
c.99819G>A (p.Met33273Ile)
n.446+8237C>T
n.220-3859C>T
c.103839G>A (p.Met34613Ile)
c.77733G>A (p.Met25911Ile)
c.77592G>A (p.Met25864Ile)
c.103635G>A (p.Met34545Ile)
c.99033G>A (p.Met33011Ile)
c.99030G>A (p.Met33010Ile)
c.96072G>A (p.Met32024Ile)
c.77688G>A (p.Met25896Ile)
c.99183G>A (p.Met33061Ile)
c.99180G>A (p.Met33060Ile)
c.98613G>A (p.Met32871Ile)
c.95955G>A (p.Met31985Ile)
c.95874G>A (p.Met31958Ile)
c.77637G>A (p.Met25879Ile)
c.67491G>A (p.Met22497Ile)
 dbSNP
2g.178531874A=CA1310517958TTN,TTN-AS1c.97037T= (p.Met32346=)
c.78122T= (p.Met26041=)
c.77921T= (p.Met25974=)
c.77546T= (p.Met25849=)
c.104741T= (p.Met34914=)
c.99818T= (p.Met33273=)
n.446+8238A=
n.220-3858A=
c.103838T= (p.Met34613=)
c.77732T= (p.Met25911=)
c.77591T= (p.Met25864=)
c.103634T= (p.Met34545=)
c.99032T= (p.Met33011=)
c.99029T= (p.Met33010=)
c.96071T= (p.Met32024=)
c.77687T= (p.Met25896=)
c.99182T= (p.Met33061=)
c.99179T= (p.Met33060=)
c.98612T= (p.Met32871=)
c.95954T= (p.Met31985=)
c.95873T= (p.Met31958=)
c.77636T= (p.Met25879=)
c.67490T= (p.Met22497=)
2g.178531874A>CCA349411027TTN,TTN-AS1c.97037T>G (p.Met32346Arg)
c.78122T>G (p.Met26041Arg)
c.77921T>G (p.Met25974Arg)
c.77546T>G (p.Met25849Arg)
c.104741T>G (p.Met34914Arg)
c.99818T>G (p.Met33273Arg)
n.446+8238A>C
n.220-3858A>C
c.103838T>G (p.Met34613Arg)
c.77732T>G (p.Met25911Arg)
c.77591T>G (p.Met25864Arg)
c.103634T>G (p.Met34545Arg)
c.99032T>G (p.Met33011Arg)
c.99029T>G (p.Met33010Arg)
c.96071T>G (p.Met32024Arg)
c.77687T>G (p.Met25896Arg)
c.99182T>G (p.Met33061Arg)
c.99179T>G (p.Met33060Arg)
c.98612T>G (p.Met32871Arg)
c.95954T>G (p.Met31985Arg)
c.95873T>G (p.Met31958Arg)
c.77636T>G (p.Met25879Arg)
c.67490T>G (p.Met22497Arg)
2g.178531874A>GCA349411028TTN,TTN-AS1c.97037T>C (p.Met32346Thr)
c.78122T>C (p.Met26041Thr)
c.77921T>C (p.Met25974Thr)
c.77546T>C (p.Met25849Thr)
c.104741T>C (p.Met34914Thr)
c.99818T>C (p.Met33273Thr)
n.446+8238A>G
n.220-3858A>G
c.103838T>C (p.Met34613Thr)
c.77732T>C (p.Met25911Thr)
c.77591T>C (p.Met25864Thr)
c.103634T>C (p.Met34545Thr)
c.99032T>C (p.Met33011Thr)
c.99029T>C (p.Met33010Thr)
c.96071T>C (p.Met32024Thr)
c.77687T>C (p.Met25896Thr)
c.99182T>C (p.Met33061Thr)
c.99179T>C (p.Met33060Thr)
c.98612T>C (p.Met32871Thr)
c.95954T>C (p.Met31985Thr)
c.95873T>C (p.Met31958Thr)
c.77636T>C (p.Met25879Thr)
c.67490T>C (p.Met22497Thr)
2g.178531874A>TCA10604091TTN,TTN-AS1c.97037T>A (p.Met32346Lys)
c.78122T>A (p.Met26041Lys)
c.77921T>A (p.Met25974Lys)
c.77546T>A (p.Met25849Lys)
c.104741T>A (p.Met34914Lys)
c.99818T>A (p.Met33273Lys)
n.446+8238A>T
n.220-3858A>T
c.103838T>A (p.Met34613Lys)
c.77732T>A (p.Met25911Lys)
c.77591T>A (p.Met25864Lys)
c.103634T>A (p.Met34545Lys)
c.99032T>A (p.Met33011Lys)
c.99029T>A (p.Met33010Lys)
c.96071T>A (p.Met32024Lys)
c.77687T>A (p.Met25896Lys)
c.99182T>A (p.Met33061Lys)
c.99179T>A (p.Met33060Lys)
c.98612T>A (p.Met32871Lys)
c.95954T>A (p.Met31985Lys)
c.95873T>A (p.Met31958Lys)
c.77636T>A (p.Met25879Lys)
c.67490T>A (p.Met22497Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.178531875T>ACA349411029TTN,TTN-AS1c.97036A>T (p.Met32346Leu)
c.78121A>T (p.Met26041Leu)
c.77920A>T (p.Met25974Leu)
c.77545A>T (p.Met25849Leu)
c.104740A>T (p.Met34914Leu)
c.99817A>T (p.Met33273Leu)
n.446+8239T>A
n.220-3857T>A
c.103837A>T (p.Met34613Leu)
c.77731A>T (p.Met25911Leu)
c.77590A>T (p.Met25864Leu)
c.103633A>T (p.Met34545Leu)
c.99031A>T (p.Met33011Leu)
c.99028A>T (p.Met33010Leu)
c.96070A>T (p.Met32024Leu)
c.77686A>T (p.Met25896Leu)
c.99181A>T (p.Met33061Leu)
c.99178A>T (p.Met33060Leu)
c.98611A>T (p.Met32871Leu)
c.95953A>T (p.Met31985Leu)
c.95872A>T (p.Met31958Leu)
c.77635A>T (p.Met25879Leu)
c.67489A>T (p.Met22497Leu)
2g.178531875T>CCA349411030TTN,TTN-AS1c.97036A>G (p.Met32346Val)
c.78121A>G (p.Met26041Val)
c.77920A>G (p.Met25974Val)
c.77545A>G (p.Met25849Val)
c.104740A>G (p.Met34914Val)
c.99817A>G (p.Met33273Val)
n.446+8239T>C
n.220-3857T>C
c.103837A>G (p.Met34613Val)
c.77731A>G (p.Met25911Val)
c.77590A>G (p.Met25864Val)
c.103633A>G (p.Met34545Val)
c.99031A>G (p.Met33011Val)
c.99028A>G (p.Met33010Val)
c.96070A>G (p.Met32024Val)
c.77686A>G (p.Met25896Val)
c.99181A>G (p.Met33061Val)
c.99178A>G (p.Met33060Val)
c.98611A>G (p.Met32871Val)
c.95953A>G (p.Met31985Val)
c.95872A>G (p.Met31958Val)
c.77635A>G (p.Met25879Val)
c.67489A>G (p.Met22497Val)
 gnomAD v4
2g.178531875T>GCA349411031TTN,TTN-AS1c.97036A>C (p.Met32346Leu)
c.78121A>C (p.Met26041Leu)
c.77920A>C (p.Met25974Leu)
c.77545A>C (p.Met25849Leu)
c.104740A>C (p.Met34914Leu)
c.99817A>C (p.Met33273Leu)
n.446+8239T>G
n.220-3857T>G
c.103837A>C (p.Met34613Leu)
c.77731A>C (p.Met25911Leu)
c.77590A>C (p.Met25864Leu)
c.103633A>C (p.Met34545Leu)
c.99031A>C (p.Met33011Leu)
c.99028A>C (p.Met33010Leu)
c.96070A>C (p.Met32024Leu)
c.77686A>C (p.Met25896Leu)
c.99181A>C (p.Met33061Leu)
c.99178A>C (p.Met33060Leu)
c.98611A>C (p.Met32871Leu)
c.95953A>C (p.Met31985Leu)
c.95872A>C (p.Met31958Leu)
c.77635A>C (p.Met25879Leu)
c.67489A>C (p.Met22497Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.178531875T=CA1310517959TTN,TTN-AS1c.97036A= (p.Met32346=)
c.78121A= (p.Met26041=)
c.77920A= (p.Met25974=)
c.77545A= (p.Met25849=)
c.104740A= (p.Met34914=)
c.99817A= (p.Met33273=)
n.446+8239T=
n.220-3857T=
c.103837A= (p.Met34613=)
c.77731A= (p.Met25911=)
c.77590A= (p.Met25864=)
c.103633A= (p.Met34545=)
c.99031A= (p.Met33011=)
c.99028A= (p.Met33010=)
c.96070A= (p.Met32024=)
c.77686A= (p.Met25896=)
c.99181A= (p.Met33061=)
c.99178A= (p.Met33060=)
c.98611A= (p.Met32871=)
c.95953A= (p.Met31985=)
c.95872A= (p.Met31958=)
c.77635A= (p.Met25879=)
c.67489A= (p.Met22497=)
2g.178531876G>ACA430235532TTN,TTN-AS1c.97035C>T (p.Ser32345=)
c.78120C>T (p.Ser26040=)
c.77919C>T (p.Ser25973=)
c.77544C>T (p.Ser25848=)
c.104739C>T (p.Ser34913=)
c.99816C>T (p.Ser33272=)
n.446+8240G>A
n.220-3856G>A
c.103836C>T (p.Ser34612=)
c.77730C>T (p.Ser25910=)
c.77589C>T (p.Ser25863=)
c.103632C>T (p.Ser34544=)
c.99030C>T (p.Ser33010=)
c.99027C>T (p.Ser33009=)
c.96069C>T (p.Ser32023=)
c.77685C>T (p.Ser25895=)
c.99180C>T (p.Ser33060=)
c.99177C>T (p.Ser33059=)
c.98610C>T (p.Ser32870=)
c.95952C>T (p.Ser31984=)
c.95871C>T (p.Ser31957=)
c.77634C>T (p.Ser25878=)
c.67488C>T (p.Ser22496=)
2g.178531876G>CCA430235534TTN,TTN-AS1c.97035C>G (p.Ser32345=)
c.78120C>G (p.Ser26040=)
c.77919C>G (p.Ser25973=)
c.77544C>G (p.Ser25848=)
c.104739C>G (p.Ser34913=)
c.99816C>G (p.Ser33272=)
n.446+8240G>C
n.220-3856G>C
c.103836C>G (p.Ser34612=)
c.77730C>G (p.Ser25910=)
c.77589C>G (p.Ser25863=)
c.103632C>G (p.Ser34544=)
c.99030C>G (p.Ser33010=)
c.99027C>G (p.Ser33009=)
c.96069C>G (p.Ser32023=)
c.77685C>G (p.Ser25895=)
c.99180C>G (p.Ser33060=)
c.99177C>G (p.Ser33059=)
c.98610C>G (p.Ser32870=)
c.95952C>G (p.Ser31984=)
c.95871C>G (p.Ser31957=)
c.77634C>G (p.Ser25878=)
c.67488C>G (p.Ser22496=)

Number of alleles fetched