| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178740483C>A | CA430296080 | TTN | c.10361-2123G>T (n.10361-2123G>T) c.12237G>T (p.Val4079=) c.12036G>T (p.Val4012=) c.11661G>T (p.Val3887=) c.12750G>T (p.Val4250=) c.11799G>T (p.Val3933=) c.11847G>T (p.Val3949=) c.11706G>T (p.Val3902=) c.11802G>T (p.Val3934=) c.10364-2123G>T (n.10364-2123G>T) | |
| 2 | g.178740483C>G | CA430296081 | TTN | c.10361-2123G>C (n.10361-2123G>C) c.12237G>C (p.Val4079=) c.12036G>C (p.Val4012=) c.11661G>C (p.Val3887=) c.12750G>C (p.Val4250=) c.11799G>C (p.Val3933=) c.11847G>C (p.Val3949=) c.11706G>C (p.Val3902=) c.11802G>C (p.Val3934=) c.10364-2123G>C (n.10364-2123G>C) | |
| 2 | g.178740483C>T | CA430296082 | TTN | c.10361-2123G>A (n.10361-2123G>A) c.12237G>A (p.Val4079=) c.12036G>A (p.Val4012=) c.11661G>A (p.Val3887=) c.12750G>A (p.Val4250=) c.11799G>A (p.Val3933=) c.11847G>A (p.Val3949=) c.11706G>A (p.Val3902=) c.11802G>A (p.Val3934=) c.10364-2123G>A (n.10364-2123G>A) | |
| 2 | g.178740484A= | CA1310601404 | TTN | c.10361-2124T= (n.10361-2124T=) c.12236T= (p.Val4079=) c.12035T= (p.Val4012=) c.11660T= (p.Val3887=) c.12749T= (p.Val4250=) c.11798T= (p.Val3933=) c.11846T= (p.Val3949=) c.11705T= (p.Val3902=) c.11801T= (p.Val3934=) c.10364-2124T= (n.10364-2124T=) | |
| 2 | g.178740484A>C | CA349610577 | TTN | c.10361-2124T>G (n.10361-2124T>G) c.12236T>G (p.Val4079Gly) c.12035T>G (p.Val4012Gly) c.11660T>G (p.Val3887Gly) c.12749T>G (p.Val4250Gly) c.11798T>G (p.Val3933Gly) c.11846T>G (p.Val3949Gly) c.11705T>G (p.Val3902Gly) c.11801T>G (p.Val3934Gly) c.10364-2124T>G (n.10364-2124T>G) | |
| 2 | g.178740484A>G | CA349610583 | TTN | c.10361-2124T>C (n.10361-2124T>C) c.12236T>C (p.Val4079Ala) c.12035T>C (p.Val4012Ala) c.11660T>C (p.Val3887Ala) c.12749T>C (p.Val4250Ala) c.11798T>C (p.Val3933Ala) c.11846T>C (p.Val3949Ala) c.11705T>C (p.Val3902Ala) c.11801T>C (p.Val3934Ala) c.10364-2124T>C (n.10364-2124T>C) | ClinVar dbSNP |
| 2 | g.178740484A>T | CA349610584 | TTN | c.10361-2124T>A (n.10361-2124T>A) c.12236T>A (p.Val4079Glu) c.12035T>A (p.Val4012Glu) c.11660T>A (p.Val3887Glu) c.12749T>A (p.Val4250Glu) c.11798T>A (p.Val3933Glu) c.11846T>A (p.Val3949Glu) c.11705T>A (p.Val3902Glu) c.11801T>A (p.Val3934Glu) c.10364-2124T>A (n.10364-2124T>A) | |
| 2 | g.178740485C>A | CA349610586 | TTN | c.10361-2125G>T (n.10361-2125G>T) c.12235G>T (p.Val4079Leu) c.12034G>T (p.Val4012Leu) c.11659G>T (p.Val3887Leu) c.12748G>T (p.Val4250Leu) c.11797G>T (p.Val3933Leu) c.11845G>T (p.Val3949Leu) c.11704G>T (p.Val3902Leu) c.11800G>T (p.Val3934Leu) c.10364-2125G>T (n.10364-2125G>T) | |
| 2 | g.178740485C= | CA1310601406 | TTN | c.10361-2125G= (n.10361-2125G=) c.12235G= (p.Val4079=) c.12034G= (p.Val4012=) c.11659G= (p.Val3887=) c.12748G= (p.Val4250=) c.11797G= (p.Val3933=) c.11845G= (p.Val3949=) c.11704G= (p.Val3902=) c.11800G= (p.Val3934=) c.10364-2125G= (n.10364-2125G=) | |
| 2 | g.178740485C>G | CA349610587 | TTN | c.10361-2125G>C (n.10361-2125G>C) c.12235G>C (p.Val4079Leu) c.12034G>C (p.Val4012Leu) c.11659G>C (p.Val3887Leu) c.12748G>C (p.Val4250Leu) c.11797G>C (p.Val3933Leu) c.11845G>C (p.Val3949Leu) c.11704G>C (p.Val3902Leu) c.11800G>C (p.Val3934Leu) c.10364-2125G>C (n.10364-2125G>C) | |
| 2 | g.178740485C>T | CA181936 | TTN | c.10361-2125G>A (n.10361-2125G>A) c.12235G>A (p.Val4079Met) c.12034G>A (p.Val4012Met) c.11659G>A (p.Val3887Met) c.12748G>A (p.Val4250Met) c.11797G>A (p.Val3933Met) c.11845G>A (p.Val3949Met) c.11704G>A (p.Val3902Met) c.11800G>A (p.Val3934Met) c.10364-2125G>A (n.10364-2125G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178740486T>A | CA349610590 | TTN | c.10361-2126A>T (n.10361-2126A>T) c.12234A>T (p.Arg4078Ser) c.12033A>T (p.Arg4011Ser) c.11658A>T (p.Arg3886Ser) c.12747A>T (p.Arg4249Ser) c.11796A>T (p.Arg3932Ser) c.11844A>T (p.Arg3948Ser) c.11703A>T (p.Arg3901Ser) c.11799A>T (p.Arg3933Ser) c.10364-2126A>T (n.10364-2126A>T) | |
| 2 | g.178740486T>C | CA430296083 | TTN | c.10361-2126A>G (n.10361-2126A>G) c.12234A>G (p.Arg4078=) c.12033A>G (p.Arg4011=) c.11658A>G (p.Arg3886=) c.12747A>G (p.Arg4249=) c.11796A>G (p.Arg3932=) c.11844A>G (p.Arg3948=) c.11703A>G (p.Arg3901=) c.11799A>G (p.Arg3933=) c.10364-2126A>G (n.10364-2126A>G) | |
| 2 | g.178740486T>G | CA349610591 | TTN | c.10361-2126A>C (n.10361-2126A>C) c.12234A>C (p.Arg4078Ser) c.12033A>C (p.Arg4011Ser) c.11658A>C (p.Arg3886Ser) c.12747A>C (p.Arg4249Ser) c.11796A>C (p.Arg3932Ser) c.11844A>C (p.Arg3948Ser) c.11703A>C (p.Arg3901Ser) c.11799A>C (p.Arg3933Ser) c.10364-2126A>C (n.10364-2126A>C) | |
| 2 | g.178740487C>A | CA349610594 | TTN | c.10361-2127G>T (n.10361-2127G>T) c.12233G>T (p.Arg4078Ile) c.12032G>T (p.Arg4011Ile) c.11657G>T (p.Arg3886Ile) c.12746G>T (p.Arg4249Ile) c.11795G>T (p.Arg3932Ile) c.11843G>T (p.Arg3948Ile) c.11702G>T (p.Arg3901Ile) c.11798G>T (p.Arg3933Ile) c.10364-2127G>T (n.10364-2127G>T) | |
| 2 | g.178740487C>G | CA349610595 | TTN | c.10361-2127G>C (n.10361-2127G>C) c.12233G>C (p.Arg4078Thr) c.12032G>C (p.Arg4011Thr) c.11657G>C (p.Arg3886Thr) c.12746G>C (p.Arg4249Thr) c.11795G>C (p.Arg3932Thr) c.11843G>C (p.Arg3948Thr) c.11702G>C (p.Arg3901Thr) c.11798G>C (p.Arg3933Thr) c.10364-2127G>C (n.10364-2127G>C) | |
| 2 | g.178740487C>T | CA349610596 | TTN | c.10361-2127G>A (n.10361-2127G>A) c.12233G>A (p.Arg4078Lys) c.12032G>A (p.Arg4011Lys) c.11657G>A (p.Arg3886Lys) c.12746G>A (p.Arg4249Lys) c.11795G>A (p.Arg3932Lys) c.11843G>A (p.Arg3948Lys) c.11702G>A (p.Arg3901Lys) c.11798G>A (p.Arg3933Lys) c.10364-2127G>A (n.10364-2127G>A) | |
| 2 | g.178740488T>A | CA349610598 | TTN | c.10361-2128A>T (n.10361-2128A>T) c.12232A>T (p.Arg4078Ter) c.12031A>T (p.Arg4011Ter) c.11656A>T (p.Arg3886Ter) c.12745A>T (p.Arg4249Ter) c.11794A>T (p.Arg3932Ter) c.11842A>T (p.Arg3948Ter) c.11701A>T (p.Arg3901Ter) c.11797A>T (p.Arg3933Ter) c.10364-2128A>T (n.10364-2128A>T) | |
| 2 | g.178740488T>C | CA349610599 | TTN | c.10361-2128A>G (n.10361-2128A>G) c.12232A>G (p.Arg4078Gly) c.12031A>G (p.Arg4011Gly) c.11656A>G (p.Arg3886Gly) c.12745A>G (p.Arg4249Gly) c.11794A>G (p.Arg3932Gly) c.11842A>G (p.Arg3948Gly) c.11701A>G (p.Arg3901Gly) c.11797A>G (p.Arg3933Gly) c.10364-2128A>G (n.10364-2128A>G) | |
| 2 | g.178740488T>G | CA430296084 | TTN | c.10361-2128A>C (n.10361-2128A>C) c.12232A>C (p.Arg4078=) c.12031A>C (p.Arg4011=) c.11656A>C (p.Arg3886=) c.12745A>C (p.Arg4249=) c.11794A>C (p.Arg3932=) c.11842A>C (p.Arg3948=) c.11701A>C (p.Arg3901=) c.11797A>C (p.Arg3933=) c.10364-2128A>C (n.10364-2128A>C) | |
| 2 | g.178740489_178740490del | CA2573051806 | TTN | c.10361-2129_10361-2128del (n.10361-2129_10361-2128del) c.12231_12232del (p.Arg4078SerfsTer20) c.12030_12031del (p.Arg4011SerfsTer20) c.11655_11656del (p.Arg3886SerfsTer20) c.12744_12745del (p.Arg4249SerfsTer20) c.11793_11794del (p.Arg3932SerfsTer20) c.11841_11842del (p.Arg3948SerfsTer20) c.11700_11701del (p.Arg3901SerfsTer20) c.11796_11797del (p.Arg3933SerfsTer20) c.10364-2129_10364-2128del (n.10364-2129_10364-2128del) | ClinVar dbSNP |
| 2 | g.178740489T>A | CA349610604 | TTN | c.10361-2129A>T (n.10361-2129A>T) c.12231A>T (p.Gln4077His) c.12030A>T (p.Gln4010His) c.11655A>T (p.Gln3885His) c.12744A>T (p.Gln4248His) c.11793A>T (p.Gln3931His) c.11841A>T (p.Gln3947His) c.11700A>T (p.Gln3900His) c.11796A>T (p.Gln3932His) c.10364-2129A>T (n.10364-2129A>T) | |
| 2 | g.178740489T>C | CA60984074 | TTN | c.10361-2129A>G (n.10361-2129A>G) c.12231A>G (p.Gln4077=) c.12030A>G (p.Gln4010=) c.11655A>G (p.Gln3885=) c.12744A>G (p.Gln4248=) c.11793A>G (p.Gln3931=) c.11841A>G (p.Gln3947=) c.11700A>G (p.Gln3900=) c.11796A>G (p.Gln3932=) c.10364-2129A>G (n.10364-2129A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.178740489T>G | CA349610602 | TTN | c.10361-2129A>C (n.10361-2129A>C) c.12231A>C (p.Gln4077His) c.12030A>C (p.Gln4010His) c.11655A>C (p.Gln3885His) c.12744A>C (p.Gln4248His) c.11793A>C (p.Gln3931His) c.11841A>C (p.Gln3947His) c.11700A>C (p.Gln3900His) c.11796A>C (p.Gln3932His) c.10364-2129A>C (n.10364-2129A>C) | |
| 2 | g.178740489T= | CA1310601408 | TTN | c.10361-2129A= (n.10361-2129A=) c.12231A= (p.Gln4077=) c.12030A= (p.Gln4010=) c.11655A= (p.Gln3885=) c.12744A= (p.Gln4248=) c.11793A= (p.Gln3931=) c.11841A= (p.Gln3947=) c.11700A= (p.Gln3900=) c.11796A= (p.Gln3932=) c.10364-2129A= (n.10364-2129A=) | |
| 2 | g.178740490T>A | CA349610607 | TTN | c.10361-2130A>T (n.10361-2130A>T) c.12230A>T (p.Gln4077Leu) c.12029A>T (p.Gln4010Leu) c.11654A>T (p.Gln3885Leu) c.12743A>T (p.Gln4248Leu) c.11792A>T (p.Gln3931Leu) c.11840A>T (p.Gln3947Leu) c.11699A>T (p.Gln3900Leu) c.11795A>T (p.Gln3932Leu) c.10364-2130A>T (n.10364-2130A>T) | |
| 2 | g.178740490T>C | CA2002676 | TTN | c.10361-2130A>G (n.10361-2130A>G) c.12230A>G (p.Gln4077Arg) c.12029A>G (p.Gln4010Arg) c.11654A>G (p.Gln3885Arg) c.12743A>G (p.Gln4248Arg) c.11792A>G (p.Gln3931Arg) c.11840A>G (p.Gln3947Arg) c.11699A>G (p.Gln3900Arg) c.11795A>G (p.Gln3932Arg) c.10364-2130A>G (n.10364-2130A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.178740490T>G | CA238159 | TTN | c.10361-2130A>C (n.10361-2130A>C) c.12230A>C (p.Gln4077Pro) c.12029A>C (p.Gln4010Pro) c.11654A>C (p.Gln3885Pro) c.12743A>C (p.Gln4248Pro) c.11792A>C (p.Gln3931Pro) c.11840A>C (p.Gln3947Pro) c.11699A>C (p.Gln3900Pro) c.11795A>C (p.Gln3932Pro) c.10364-2130A>C (n.10364-2130A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178740490T= | CA1310601410 | TTN | c.10361-2130A= (n.10361-2130A=) c.12230A= (p.Gln4077=) c.12029A= (p.Gln4010=) c.11654A= (p.Gln3885=) c.12743A= (p.Gln4248=) c.11792A= (p.Gln3931=) c.11840A= (p.Gln3947=) c.11699A= (p.Gln3900=) c.11795A= (p.Gln3932=) c.10364-2130A= (n.10364-2130A=) | |
| 2 | g.178740491G>A | CA309383 | TTN | c.10361-2131C>T (n.10361-2131C>T) c.12229C>T (p.Gln4077Ter) c.12028C>T (p.Gln4010Ter) c.11653C>T (p.Gln3885Ter) c.12742C>T (p.Gln4248Ter) c.11791C>T (p.Gln3931Ter) c.11839C>T (p.Gln3947Ter) c.11698C>T (p.Gln3900Ter) c.11794C>T (p.Gln3932Ter) c.10364-2131C>T (n.10364-2131C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.178740491G>C | CA349610612 | TTN | c.10361-2131C>G (n.10361-2131C>G) c.12229C>G (p.Gln4077Glu) c.12028C>G (p.Gln4010Glu) c.11653C>G (p.Gln3885Glu) c.12742C>G (p.Gln4248Glu) c.11791C>G (p.Gln3931Glu) c.11839C>G (p.Gln3947Glu) c.11698C>G (p.Gln3900Glu) c.11794C>G (p.Gln3932Glu) c.10364-2131C>G (n.10364-2131C>G) | |
| 2 | g.178740491G= | CA1310601413 | TTN | c.10361-2131C= (n.10361-2131C=) c.12229C= (p.Gln4077=) c.12028C= (p.Gln4010=) c.11653C= (p.Gln3885=) c.12742C= (p.Gln4248=) c.11791C= (p.Gln3931=) c.11839C= (p.Gln3947=) c.11698C= (p.Gln3900=) c.11794C= (p.Gln3932=) c.10364-2131C= (n.10364-2131C=) | |
| 2 | g.178740491G>T | CA60984092 | TTN | c.10361-2131C>A (n.10361-2131C>A) c.12229C>A (p.Gln4077Lys) c.12028C>A (p.Gln4010Lys) c.11653C>A (p.Gln3885Lys) c.12742C>A (p.Gln4248Lys) c.11791C>A (p.Gln3931Lys) c.11839C>A (p.Gln3947Lys) c.11698C>A (p.Gln3900Lys) c.11794C>A (p.Gln3932Lys) c.10364-2131C>A (n.10364-2131C>A) | dbSNP gnomAD v4 |
| 2 | g.178740492C>A | CA349610615 | TTN | c.10361-2132G>T (n.10361-2132G>T) c.12228G>T (p.Glu4076Asp) c.12027G>T (p.Glu4009Asp) c.11652G>T (p.Glu3884Asp) c.12741G>T (p.Glu4247Asp) c.11790G>T (p.Glu3930Asp) c.11838G>T (p.Glu3946Asp) c.11697G>T (p.Glu3899Asp) c.11793G>T (p.Glu3931Asp) c.10364-2132G>T (n.10364-2132G>T) | |
| 2 | g.178740492C= | CA1310601415 | TTN | c.10361-2132G= (n.10361-2132G=) c.12228G= (p.Glu4076=) c.12027G= (p.Glu4009=) c.11652G= (p.Glu3884=) c.12741G= (p.Glu4247=) c.11790G= (p.Glu3930=) c.11838G= (p.Glu3946=) c.11697G= (p.Glu3899=) c.11793G= (p.Glu3931=) c.10364-2132G= (n.10364-2132G=) | |
| 2 | g.178740492C>G | CA349610617 | TTN | c.10361-2132G>C (n.10361-2132G>C) c.12228G>C (p.Glu4076Asp) c.12027G>C (p.Glu4009Asp) c.11652G>C (p.Glu3884Asp) c.12741G>C (p.Glu4247Asp) c.11790G>C (p.Glu3930Asp) c.11838G>C (p.Glu3946Asp) c.11697G>C (p.Glu3899Asp) c.11793G>C (p.Glu3931Asp) c.10364-2132G>C (n.10364-2132G>C) | |
| 2 | g.178740492C>T | CA16604240 | TTN | c.10361-2132G>A (n.10361-2132G>A) c.12228G>A (p.Glu4076=) c.12027G>A (p.Glu4009=) c.11652G>A (p.Glu3884=) c.12741G>A (p.Glu4247=) c.11790G>A (p.Glu3930=) c.11838G>A (p.Glu3946=) c.11697G>A (p.Glu3899=) c.11793G>A (p.Glu3931=) c.10364-2132G>A (n.10364-2132G>A) | ClinVar dbSNP gnomAD v4 |
| 2 | g.178740493T>A | CA349610620 | TTN | c.10361-2133A>T (n.10361-2133A>T) c.12227A>T (p.Glu4076Val) c.12026A>T (p.Glu4009Val) c.11651A>T (p.Glu3884Val) c.12740A>T (p.Glu4247Val) c.11789A>T (p.Glu3930Val) c.11837A>T (p.Glu3946Val) c.11696A>T (p.Glu3899Val) c.11792A>T (p.Glu3931Val) c.10364-2133A>T (n.10364-2133A>T) | |
| 2 | g.178740493T>C | CA60984099 | TTN | c.10361-2133A>G (n.10361-2133A>G) c.12227A>G (p.Glu4076Gly) c.12026A>G (p.Glu4009Gly) c.11651A>G (p.Glu3884Gly) c.12740A>G (p.Glu4247Gly) c.11789A>G (p.Glu3930Gly) c.11837A>G (p.Glu3946Gly) c.11696A>G (p.Glu3899Gly) c.11792A>G (p.Glu3931Gly) c.10364-2133A>G (n.10364-2133A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178740493T>G | CA349610622 | TTN | c.10361-2133A>C (n.10361-2133A>C) c.12227A>C (p.Glu4076Ala) c.12026A>C (p.Glu4009Ala) c.11651A>C (p.Glu3884Ala) c.12740A>C (p.Glu4247Ala) c.11789A>C (p.Glu3930Ala) c.11837A>C (p.Glu3946Ala) c.11696A>C (p.Glu3899Ala) c.11792A>C (p.Glu3931Ala) c.10364-2133A>C (n.10364-2133A>C) | |
| 2 | g.178740493T= | CA1310601416 | TTN | c.10361-2133A= (n.10361-2133A=) c.12227A= (p.Glu4076=) c.12026A= (p.Glu4009=) c.11651A= (p.Glu3884=) c.12740A= (p.Glu4247=) c.11789A= (p.Glu3930=) c.11837A= (p.Glu3946=) c.11696A= (p.Glu3899=) c.11792A= (p.Glu3931=) c.10364-2133A= (n.10364-2133A=) | |
| 2 | g.178740494C>A | CA349610627 | TTN | c.10361-2134G>T (n.10361-2134G>T) c.12226G>T (p.Glu4076Ter) c.12025G>T (p.Glu4009Ter) c.11650G>T (p.Glu3884Ter) c.12739G>T (p.Glu4247Ter) c.11788G>T (p.Glu3930Ter) c.11836G>T (p.Glu3946Ter) c.11695G>T (p.Glu3899Ter) c.11791G>T (p.Glu3931Ter) c.10364-2134G>T (n.10364-2134G>T) | |
| 2 | g.178740494C>G | CA349610628 | TTN | c.10361-2134G>C (n.10361-2134G>C) c.12226G>C (p.Glu4076Gln) c.12025G>C (p.Glu4009Gln) c.11650G>C (p.Glu3884Gln) c.12739G>C (p.Glu4247Gln) c.11788G>C (p.Glu3930Gln) c.11836G>C (p.Glu3946Gln) c.11695G>C (p.Glu3899Gln) c.11791G>C (p.Glu3931Gln) c.10364-2134G>C (n.10364-2134G>C) | |
| 2 | g.178740494C>T | CA349610625 | TTN | c.10361-2134G>A (n.10361-2134G>A) c.12226G>A (p.Glu4076Lys) c.12025G>A (p.Glu4009Lys) c.11650G>A (p.Glu3884Lys) c.12739G>A (p.Glu4247Lys) c.11788G>A (p.Glu3930Lys) c.11836G>A (p.Glu3946Lys) c.11695G>A (p.Glu3899Lys) c.11791G>A (p.Glu3931Lys) c.10364-2134G>A (n.10364-2134G>A) | |
| 2 | g.178740495T>A | CA349610630 | TTN | c.10361-2135A>T (n.10361-2135A>T) c.12225A>T (p.Arg4075Ser) c.12024A>T (p.Arg4008Ser) c.11649A>T (p.Arg3883Ser) c.12738A>T (p.Arg4246Ser) c.11787A>T (p.Arg3929Ser) c.11835A>T (p.Arg3945Ser) c.11694A>T (p.Arg3898Ser) c.11790A>T (p.Arg3930Ser) c.10364-2135A>T (n.10364-2135A>T) | gnomAD v4 |
| 2 | g.178740495T>C | CA430296085 | TTN | c.10361-2135A>G (n.10361-2135A>G) c.12225A>G (p.Arg4075=) c.12024A>G (p.Arg4008=) c.11649A>G (p.Arg3883=) c.12738A>G (p.Arg4246=) c.11787A>G (p.Arg3929=) c.11835A>G (p.Arg3945=) c.11694A>G (p.Arg3898=) c.11790A>G (p.Arg3930=) c.10364-2135A>G (n.10364-2135A>G) | |
| 2 | g.178740495T>G | CA349610632 | TTN | c.10361-2135A>C (n.10361-2135A>C) c.12225A>C (p.Arg4075Ser) c.12024A>C (p.Arg4008Ser) c.11649A>C (p.Arg3883Ser) c.12738A>C (p.Arg4246Ser) c.11787A>C (p.Arg3929Ser) c.11835A>C (p.Arg3945Ser) c.11694A>C (p.Arg3898Ser) c.11790A>C (p.Arg3930Ser) c.10364-2135A>C (n.10364-2135A>C) | |
| 2 | g.178740496C>A | CA349610634 | TTN | c.10361-2136G>T (n.10361-2136G>T) c.12224G>T (p.Arg4075Ile) c.12023G>T (p.Arg4008Ile) c.11648G>T (p.Arg3883Ile) c.12737G>T (p.Arg4246Ile) c.11786G>T (p.Arg3929Ile) c.11834G>T (p.Arg3945Ile) c.11693G>T (p.Arg3898Ile) c.11789G>T (p.Arg3930Ile) c.10364-2136G>T (n.10364-2136G>T) | |
| 2 | g.178740496C>G | CA349610636 | TTN | c.10361-2136G>C (n.10361-2136G>C) c.12224G>C (p.Arg4075Thr) c.12023G>C (p.Arg4008Thr) c.11648G>C (p.Arg3883Thr) c.12737G>C (p.Arg4246Thr) c.11786G>C (p.Arg3929Thr) c.11834G>C (p.Arg3945Thr) c.11693G>C (p.Arg3898Thr) c.11789G>C (p.Arg3930Thr) c.10364-2136G>C (n.10364-2136G>C) | |
| 2 | g.178740496C>T | CA349610638 | TTN | c.10361-2136G>A (n.10361-2136G>A) c.12224G>A (p.Arg4075Lys) c.12023G>A (p.Arg4008Lys) c.11648G>A (p.Arg3883Lys) c.12737G>A (p.Arg4246Lys) c.11786G>A (p.Arg3929Lys) c.11834G>A (p.Arg3945Lys) c.11693G>A (p.Arg3898Lys) c.11789G>A (p.Arg3930Lys) c.10364-2136G>A (n.10364-2136G>A) |