| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178740577_178740583del | CA2972400337 | TTN | c.10361-2223_10361-2217del (n.10361-2223_10361-2217del) c.12137_12143del (p.Ser4046TyrfsTer8) c.11936_11942del (p.Ser3979TyrfsTer8) c.11561_11567del (p.Ser3854TyrfsTer8) c.12650_12656del (p.Ser4217TyrfsTer8) c.11699_11705del (p.Ser3900TyrfsTer8) c.11747_11753del (p.Ser3916TyrfsTer8) c.11606_11612del (p.Ser3869TyrfsTer8) c.11702_11708del (p.Ser3901TyrfsTer8) c.10364-2223_10364-2217del (n.10364-2223_10364-2217del) | |
| 2 | g.178740580A= | CA1310601489 | TTN | c.10361-2220T= (n.10361-2220T=) c.12140T= (p.Ile4047=) c.11939T= (p.Ile3980=) c.11564T= (p.Ile3855=) c.12653T= (p.Ile4218=) c.11702T= (p.Ile3901=) c.11750T= (p.Ile3917=) c.11609T= (p.Ile3870=) c.11705T= (p.Ile3902=) c.10364-2220T= (n.10364-2220T=) | |
| 2 | g.178740580A>C | CA349611164 | TTN | c.10361-2220T>G (n.10361-2220T>G) c.12140T>G (p.Ile4047Arg) c.11939T>G (p.Ile3980Arg) c.11564T>G (p.Ile3855Arg) c.12653T>G (p.Ile4218Arg) c.11702T>G (p.Ile3901Arg) c.11750T>G (p.Ile3917Arg) c.11609T>G (p.Ile3870Arg) c.11705T>G (p.Ile3902Arg) c.10364-2220T>G (n.10364-2220T>G) | |
| 2 | g.178740580A>G | CA141993 | TTN | c.10361-2220T>C (n.10361-2220T>C) c.12140T>C (p.Ile4047Thr) c.11939T>C (p.Ile3980Thr) c.11564T>C (p.Ile3855Thr) c.12653T>C (p.Ile4218Thr) c.11702T>C (p.Ile3901Thr) c.11750T>C (p.Ile3917Thr) c.11609T>C (p.Ile3870Thr) c.11705T>C (p.Ile3902Thr) c.10364-2220T>C (n.10364-2220T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178740580A>T | CA349611159 | TTN | c.10361-2220T>A (n.10361-2220T>A) c.12140T>A (p.Ile4047Lys) c.11939T>A (p.Ile3980Lys) c.11564T>A (p.Ile3855Lys) c.12653T>A (p.Ile4218Lys) c.11702T>A (p.Ile3901Lys) c.11750T>A (p.Ile3917Lys) c.11609T>A (p.Ile3870Lys) c.11705T>A (p.Ile3902Lys) c.10364-2220T>A (n.10364-2220T>A) | |
| 2 | g.178740581T>A | CA349611169 | TTN | c.10361-2221A>T (n.10361-2221A>T) c.12139A>T (p.Ile4047Leu) c.11938A>T (p.Ile3980Leu) c.11563A>T (p.Ile3855Leu) c.12652A>T (p.Ile4218Leu) c.11701A>T (p.Ile3901Leu) c.11749A>T (p.Ile3917Leu) c.11608A>T (p.Ile3870Leu) c.11704A>T (p.Ile3902Leu) c.10364-2221A>T (n.10364-2221A>T) | |
| 2 | g.178740581T>C | CA2002681 | TTN | c.10361-2221A>G (n.10361-2221A>G) c.12139A>G (p.Ile4047Val) c.11938A>G (p.Ile3980Val) c.11563A>G (p.Ile3855Val) c.12652A>G (p.Ile4218Val) c.11701A>G (p.Ile3901Val) c.11749A>G (p.Ile3917Val) c.11608A>G (p.Ile3870Val) c.11704A>G (p.Ile3902Val) c.10364-2221A>G (n.10364-2221A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.178740581T>G | CA349611174 | TTN | c.10361-2221A>C (n.10361-2221A>C) c.12139A>C (p.Ile4047Leu) c.11938A>C (p.Ile3980Leu) c.11563A>C (p.Ile3855Leu) c.12652A>C (p.Ile4218Leu) c.11701A>C (p.Ile3901Leu) c.11749A>C (p.Ile3917Leu) c.11608A>C (p.Ile3870Leu) c.11704A>C (p.Ile3902Leu) c.10364-2221A>C (n.10364-2221A>C) | |
| 2 | g.178740581T= | CA1310601491 | TTN | c.10361-2221A= (n.10361-2221A=) c.12139A= (p.Ile4047=) c.11938A= (p.Ile3980=) c.11563A= (p.Ile3855=) c.12652A= (p.Ile4218=) c.11701A= (p.Ile3901=) c.11749A= (p.Ile3917=) c.11608A= (p.Ile3870=) c.11704A= (p.Ile3902=) c.10364-2221A= (n.10364-2221A=) | |
| 2 | g.178740582T>A | CA430296146 | TTN | c.10361-2222A>T (n.10361-2222A>T) c.12138A>T (p.Ser4046=) c.11937A>T (p.Ser3979=) c.11562A>T (p.Ser3854=) c.12651A>T (p.Ser4217=) c.11700A>T (p.Ser3900=) c.11748A>T (p.Ser3916=) c.11607A>T (p.Ser3869=) c.11703A>T (p.Ser3901=) c.10364-2222A>T (n.10364-2222A>T) | |
| 2 | g.178740582T>C | CA2002682 | TTN | c.10361-2222A>G (n.10361-2222A>G) c.12138A>G (p.Ser4046=) c.11937A>G (p.Ser3979=) c.11562A>G (p.Ser3854=) c.12651A>G (p.Ser4217=) c.11700A>G (p.Ser3900=) c.11748A>G (p.Ser3916=) c.11607A>G (p.Ser3869=) c.11703A>G (p.Ser3901=) c.10364-2222A>G (n.10364-2222A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.178740582T>G | CA430296147 | TTN | c.10361-2222A>C (n.10361-2222A>C) c.12138A>C (p.Ser4046=) c.11937A>C (p.Ser3979=) c.11562A>C (p.Ser3854=) c.12651A>C (p.Ser4217=) c.11700A>C (p.Ser3900=) c.11748A>C (p.Ser3916=) c.11607A>C (p.Ser3869=) c.11703A>C (p.Ser3901=) c.10364-2222A>C (n.10364-2222A>C) | |
| 2 | g.178740582T= | CA1310601492 | TTN | c.10361-2222A= (n.10361-2222A=) c.12138A= (p.Ser4046=) c.11937A= (p.Ser3979=) c.11562A= (p.Ser3854=) c.12651A= (p.Ser4217=) c.11700A= (p.Ser3900=) c.11748A= (p.Ser3916=) c.11607A= (p.Ser3869=) c.11703A= (p.Ser3901=) c.10364-2222A= (n.10364-2222A=) | |
| 2 | g.178740583G>A | CA349611178 | TTN | c.10361-2223C>T (n.10361-2223C>T) c.12137C>T (p.Ser4046Leu) c.11936C>T (p.Ser3979Leu) c.11561C>T (p.Ser3854Leu) c.12650C>T (p.Ser4217Leu) c.11699C>T (p.Ser3900Leu) c.11747C>T (p.Ser3916Leu) c.11606C>T (p.Ser3869Leu) c.11702C>T (p.Ser3901Leu) c.10364-2223C>T (n.10364-2223C>T) | |
| 2 | g.178740583G>C | CA349611181 | TTN | c.10361-2223C>G (n.10361-2223C>G) c.12137C>G (p.Ser4046Ter) c.11936C>G (p.Ser3979Ter) c.11561C>G (p.Ser3854Ter) c.12650C>G (p.Ser4217Ter) c.11699C>G (p.Ser3900Ter) c.11747C>G (p.Ser3916Ter) c.11606C>G (p.Ser3869Ter) c.11702C>G (p.Ser3901Ter) c.10364-2223C>G (n.10364-2223C>G) | |
| 2 | g.178740583G>T | CA349611183 | TTN | c.10361-2223C>A (n.10361-2223C>A) c.12137C>A (p.Ser4046Ter) c.11936C>A (p.Ser3979Ter) c.11561C>A (p.Ser3854Ter) c.12650C>A (p.Ser4217Ter) c.11699C>A (p.Ser3900Ter) c.11747C>A (p.Ser3916Ter) c.11606C>A (p.Ser3869Ter) c.11702C>A (p.Ser3901Ter) c.10364-2223C>A (n.10364-2223C>A) | |
| 2 | g.178740584A>C | CA349611190 | TTN | c.10361-2224T>G (n.10361-2224T>G) c.12136T>G (p.Ser4046Ala) c.11935T>G (p.Ser3979Ala) c.11560T>G (p.Ser3854Ala) c.12649T>G (p.Ser4217Ala) c.11698T>G (p.Ser3900Ala) c.11746T>G (p.Ser3916Ala) c.11605T>G (p.Ser3869Ala) c.11701T>G (p.Ser3901Ala) c.10364-2224T>G (n.10364-2224T>G) | |
| 2 | g.178740584A>G | CA349611193 | TTN | c.10361-2224T>C (n.10361-2224T>C) c.12136T>C (p.Ser4046Pro) c.11935T>C (p.Ser3979Pro) c.11560T>C (p.Ser3854Pro) c.12649T>C (p.Ser4217Pro) c.11698T>C (p.Ser3900Pro) c.11746T>C (p.Ser3916Pro) c.11605T>C (p.Ser3869Pro) c.11701T>C (p.Ser3901Pro) c.10364-2224T>C (n.10364-2224T>C) | COSMIC COSMIC |
| 2 | g.178740584A>T | CA349611188 | TTN | c.10361-2224T>A (n.10361-2224T>A) c.12136T>A (p.Ser4046Thr) c.11935T>A (p.Ser3979Thr) c.11560T>A (p.Ser3854Thr) c.12649T>A (p.Ser4217Thr) c.11698T>A (p.Ser3900Thr) c.11746T>A (p.Ser3916Thr) c.11605T>A (p.Ser3869Thr) c.11701T>A (p.Ser3901Thr) c.10364-2224T>A (n.10364-2224T>A) | |
| 2 | g.178740585A>C | CA430296148 | TTN | c.10361-2225T>G (n.10361-2225T>G) c.12135T>G (p.Ser4045=) c.11934T>G (p.Ser3978=) c.11559T>G (p.Ser3853=) c.12648T>G (p.Ser4216=) c.11697T>G (p.Ser3899=) c.11745T>G (p.Ser3915=) c.11604T>G (p.Ser3868=) c.11700T>G (p.Ser3900=) c.10364-2225T>G (n.10364-2225T>G) | |
| 2 | g.178740585A>G | CA430296149 | TTN | c.10361-2225T>C (n.10361-2225T>C) c.12135T>C (p.Ser4045=) c.11934T>C (p.Ser3978=) c.11559T>C (p.Ser3853=) c.12648T>C (p.Ser4216=) c.11697T>C (p.Ser3899=) c.11745T>C (p.Ser3915=) c.11604T>C (p.Ser3868=) c.11700T>C (p.Ser3900=) c.10364-2225T>C (n.10364-2225T>C) | |
| 2 | g.178740585A>T | CA430296150 | TTN | c.10361-2225T>A (n.10361-2225T>A) c.12135T>A (p.Ser4045=) c.11934T>A (p.Ser3978=) c.11559T>A (p.Ser3853=) c.12648T>A (p.Ser4216=) c.11697T>A (p.Ser3899=) c.11745T>A (p.Ser3915=) c.11604T>A (p.Ser3868=) c.11700T>A (p.Ser3900=) c.10364-2225T>A (n.10364-2225T>A) | |
| 2 | g.178740586del | CA2972400338 | TTN | c.10361-2226del (n.10361-2226del) c.12134del (p.Ser4045PhefsTer3) c.11933del (p.Ser3978PhefsTer3) c.11558del (p.Ser3853PhefsTer3) c.12647del (p.Ser4216PhefsTer3) c.11696del (p.Ser3899PhefsTer3) c.11744del (p.Ser3915PhefsTer3) c.11603del (p.Ser3868PhefsTer3) c.11699del (p.Ser3900PhefsTer3) c.10364-2226del (n.10364-2226del) | |
| 2 | g.178740586G>A | CA349611202 | TTN | c.10361-2226C>T (n.10361-2226C>T) c.12134C>T (p.Ser4045Phe) c.11933C>T (p.Ser3978Phe) c.11558C>T (p.Ser3853Phe) c.12647C>T (p.Ser4216Phe) c.11696C>T (p.Ser3899Phe) c.11744C>T (p.Ser3915Phe) c.11603C>T (p.Ser3868Phe) c.11699C>T (p.Ser3900Phe) c.10364-2226C>T (n.10364-2226C>T) | |
| 2 | g.178740586G>C | CA349611198 | TTN | c.10361-2226C>G (n.10361-2226C>G) c.12134C>G (p.Ser4045Cys) c.11933C>G (p.Ser3978Cys) c.11558C>G (p.Ser3853Cys) c.12647C>G (p.Ser4216Cys) c.11696C>G (p.Ser3899Cys) c.11744C>G (p.Ser3915Cys) c.11603C>G (p.Ser3868Cys) c.11699C>G (p.Ser3900Cys) c.10364-2226C>G (n.10364-2226C>G) | |
| 2 | g.178740586G>T | CA349611200 | TTN | c.10361-2226C>A (n.10361-2226C>A) c.12134C>A (p.Ser4045Tyr) c.11933C>A (p.Ser3978Tyr) c.11558C>A (p.Ser3853Tyr) c.12647C>A (p.Ser4216Tyr) c.11696C>A (p.Ser3899Tyr) c.11744C>A (p.Ser3915Tyr) c.11603C>A (p.Ser3868Tyr) c.11699C>A (p.Ser3900Tyr) c.10364-2226C>A (n.10364-2226C>A) | |
| 2 | g.178740587A>C | CA349611208 | TTN | c.10361-2227T>G (n.10361-2227T>G) c.12133T>G (p.Ser4045Ala) c.11932T>G (p.Ser3978Ala) c.11557T>G (p.Ser3853Ala) c.12646T>G (p.Ser4216Ala) c.11695T>G (p.Ser3899Ala) c.11743T>G (p.Ser3915Ala) c.11602T>G (p.Ser3868Ala) c.11698T>G (p.Ser3900Ala) c.10364-2227T>G (n.10364-2227T>G) | |
| 2 | g.178740587A>G | CA349611211 | TTN | c.10361-2227T>C (n.10361-2227T>C) c.12133T>C (p.Ser4045Pro) c.11932T>C (p.Ser3978Pro) c.11557T>C (p.Ser3853Pro) c.12646T>C (p.Ser4216Pro) c.11695T>C (p.Ser3899Pro) c.11743T>C (p.Ser3915Pro) c.11602T>C (p.Ser3868Pro) c.11698T>C (p.Ser3900Pro) c.10364-2227T>C (n.10364-2227T>C) | |
| 2 | g.178740587A>T | CA349611215 | TTN | c.10361-2227T>A (n.10361-2227T>A) c.12133T>A (p.Ser4045Thr) c.11932T>A (p.Ser3978Thr) c.11557T>A (p.Ser3853Thr) c.12646T>A (p.Ser4216Thr) c.11695T>A (p.Ser3899Thr) c.11743T>A (p.Ser3915Thr) c.11602T>A (p.Ser3868Thr) c.11698T>A (p.Ser3900Thr) c.10364-2227T>A (n.10364-2227T>A) | |
| 2 | g.178740588del | CA2580616633 | TTN | c.10361-2228del (n.10361-2228del) c.12132del (p.Gln4044HisfsTer4) c.11931del (p.Gln3977HisfsTer4) c.11556del (p.Gln3852HisfsTer4) c.12645del (p.Gln4215HisfsTer4) c.11694del (p.Gln3898HisfsTer4) c.11742del (p.Gln3914HisfsTer4) c.11601del (p.Gln3867HisfsTer4) c.11697del (p.Gln3899HisfsTer4) c.10364-2228del (n.10364-2228del) | ClinVar |
| 2 | g.178740588C>A | CA349611218 | TTN | c.10361-2228G>T (n.10361-2228G>T) c.12132G>T (p.Gln4044His) c.11931G>T (p.Gln3977His) c.11556G>T (p.Gln3852His) c.12645G>T (p.Gln4215His) c.11694G>T (p.Gln3898His) c.11742G>T (p.Gln3914His) c.11601G>T (p.Gln3867His) c.11697G>T (p.Gln3899His) c.10364-2228G>T (n.10364-2228G>T) | |
| 2 | g.178740588C>G | CA349611227 | TTN | c.10361-2228G>C (n.10361-2228G>C) c.12132G>C (p.Gln4044His) c.11931G>C (p.Gln3977His) c.11556G>C (p.Gln3852His) c.12645G>C (p.Gln4215His) c.11694G>C (p.Gln3898His) c.11742G>C (p.Gln3914His) c.11601G>C (p.Gln3867His) c.11697G>C (p.Gln3899His) c.10364-2228G>C (n.10364-2228G>C) | |
| 2 | g.178740588C>T | CA430296151 | TTN | c.10361-2228G>A (n.10361-2228G>A) c.12132G>A (p.Gln4044=) c.11931G>A (p.Gln3977=) c.11556G>A (p.Gln3852=) c.12645G>A (p.Gln4215=) c.11694G>A (p.Gln3898=) c.11742G>A (p.Gln3914=) c.11601G>A (p.Gln3867=) c.11697G>A (p.Gln3899=) c.10364-2228G>A (n.10364-2228G>A) | |
| 2 | g.178740588_178740590delinsCTG | CA1310601493 | TTN | c.10361-2230_10361-2228delinsCAG (n.10361-2230_10361-2228delinsCAG) c.12130_12132delinsCAG (p.Gln4044=) c.11929_11931delinsCAG (p.Gln3977=) c.11554_11556delinsCAG (p.Gln3852=) c.12643_12645delinsCAG (p.Gln4215=) c.11692_11694delinsCAG (p.Gln3898=) c.11740_11742delinsCAG (p.Gln3914=) c.11599_11601delinsCAG (p.Gln3867=) c.11695_11697delinsCAG (p.Gln3899=) c.10364-2230_10364-2228delinsCAG (n.10364-2230_10364-2228delinsCAG) | |
| 2 | g.178740589T>A | CA349611232 | TTN | c.10361-2229A>T (n.10361-2229A>T) c.12131A>T (p.Gln4044Leu) c.11930A>T (p.Gln3977Leu) c.11555A>T (p.Gln3852Leu) c.12644A>T (p.Gln4215Leu) c.11693A>T (p.Gln3898Leu) c.11741A>T (p.Gln3914Leu) c.11600A>T (p.Gln3867Leu) c.11696A>T (p.Gln3899Leu) c.10364-2229A>T (n.10364-2229A>T) | |
| 2 | g.178740589T>C | CA60984130 | TTN | c.10361-2229A>G (n.10361-2229A>G) c.12131A>G (p.Gln4044Arg) c.11930A>G (p.Gln3977Arg) c.11555A>G (p.Gln3852Arg) c.12644A>G (p.Gln4215Arg) c.11693A>G (p.Gln3898Arg) c.11741A>G (p.Gln3914Arg) c.11600A>G (p.Gln3867Arg) c.11696A>G (p.Gln3899Arg) c.10364-2229A>G (n.10364-2229A>G) | dbSNP COSMIC COSMIC |
| 2 | g.178740589T>G | CA10606447 | TTN | c.10361-2229A>C (n.10361-2229A>C) c.12131A>C (p.Gln4044Pro) c.11930A>C (p.Gln3977Pro) c.11555A>C (p.Gln3852Pro) c.12644A>C (p.Gln4215Pro) c.11693A>C (p.Gln3898Pro) c.11741A>C (p.Gln3914Pro) c.11600A>C (p.Gln3867Pro) c.11696A>C (p.Gln3899Pro) c.10364-2229A>C (n.10364-2229A>C) | ClinVar dbSNP |
| 2 | g.178740589T= | CA1310601495 | TTN | c.10361-2229A= (n.10361-2229A=) c.12131A= (p.Gln4044=) c.11930A= (p.Gln3977=) c.11555A= (p.Gln3852=) c.12644A= (p.Gln4215=) c.11693A= (p.Gln3898=) c.11741A= (p.Gln3914=) c.11600A= (p.Gln3867=) c.11696A= (p.Gln3899=) c.10364-2229A= (n.10364-2229A=) | |
| 2 | g.178740591_178740592del | CA353308 | TTN | c.10361-2230_10361-2229del (n.10361-2230_10361-2229del) c.12130_12131del (p.Gln4044ValfsTer16) c.11929_11930del (p.Gln3977ValfsTer16) c.11554_11555del (p.Gln3852ValfsTer16) c.12643_12644del (p.Gln4215ValfsTer16) c.11692_11693del (p.Gln3898ValfsTer16) c.11740_11741del (p.Gln3914ValfsTer16) c.11599_11600del (p.Gln3867ValfsTer16) c.11695_11696del (p.Gln3899ValfsTer16) c.10364-2230_10364-2229del (n.10364-2230_10364-2229del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.178740590G>A | CA2002683 | TTN | c.10361-2230C>T (n.10361-2230C>T) c.12130C>T (p.Gln4044Ter) c.11929C>T (p.Gln3977Ter) c.11554C>T (p.Gln3852Ter) c.12643C>T (p.Gln4215Ter) c.11692C>T (p.Gln3898Ter) c.11740C>T (p.Gln3914Ter) c.11599C>T (p.Gln3867Ter) c.11695C>T (p.Gln3899Ter) c.10364-2230C>T (n.10364-2230C>T) | ClinVar dbSNP ExAC gnomAD v2 |
| 2 | g.178740590G>C | CA349611241 | TTN | c.10361-2230C>G (n.10361-2230C>G) c.12130C>G (p.Gln4044Glu) c.11929C>G (p.Gln3977Glu) c.11554C>G (p.Gln3852Glu) c.12643C>G (p.Gln4215Glu) c.11692C>G (p.Gln3898Glu) c.11740C>G (p.Gln3914Glu) c.11599C>G (p.Gln3867Glu) c.11695C>G (p.Gln3899Glu) c.10364-2230C>G (n.10364-2230C>G) | |
| 2 | g.178740590G= | CA1310601499 | TTN | c.10361-2230C= (n.10361-2230C=) c.12130C= (p.Gln4044=) c.11929C= (p.Gln3977=) c.11554C= (p.Gln3852=) c.12643C= (p.Gln4215=) c.11692C= (p.Gln3898=) c.11740C= (p.Gln3914=) c.11599C= (p.Gln3867=) c.11695C= (p.Gln3899=) c.10364-2230C= (n.10364-2230C=) | |
| 2 | g.178740590G>T | CA349611243 | TTN | c.10361-2230C>A (n.10361-2230C>A) c.12130C>A (p.Gln4044Lys) c.11929C>A (p.Gln3977Lys) c.11554C>A (p.Gln3852Lys) c.12643C>A (p.Gln4215Lys) c.11692C>A (p.Gln3898Lys) c.11740C>A (p.Gln3914Lys) c.11599C>A (p.Gln3867Lys) c.11695C>A (p.Gln3899Lys) c.10364-2230C>A (n.10364-2230C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178740591T>A | CA430296154 | TTN | c.10361-2231A>T (n.10361-2231A>T) c.12129A>T (p.Pro4043=) c.11928A>T (p.Pro3976=) c.11553A>T (p.Pro3851=) c.12642A>T (p.Pro4214=) c.11691A>T (p.Pro3897=) c.11739A>T (p.Pro3913=) c.11598A>T (p.Pro3866=) c.11694A>T (p.Pro3898=) c.10364-2231A>T (n.10364-2231A>T) | |
| 2 | g.178740591T>C | CA430296152 | TTN | c.10361-2231A>G (n.10361-2231A>G) c.12129A>G (p.Pro4043=) c.11928A>G (p.Pro3976=) c.11553A>G (p.Pro3851=) c.12642A>G (p.Pro4214=) c.11691A>G (p.Pro3897=) c.11739A>G (p.Pro3913=) c.11598A>G (p.Pro3866=) c.11694A>G (p.Pro3898=) c.10364-2231A>G (n.10364-2231A>G) | ClinVar gnomAD v4 |
| 2 | g.178740591T>G | CA430296153 | TTN | c.10361-2231A>C (n.10361-2231A>C) c.12129A>C (p.Pro4043=) c.11928A>C (p.Pro3976=) c.11553A>C (p.Pro3851=) c.12642A>C (p.Pro4214=) c.11691A>C (p.Pro3897=) c.11739A>C (p.Pro3913=) c.11598A>C (p.Pro3866=) c.11694A>C (p.Pro3898=) c.10364-2231A>C (n.10364-2231A>C) | |
| 2 | g.178740592G>A | CA60984137 | TTN | c.10361-2232C>T (n.10361-2232C>T) c.12128C>T (p.Pro4043Leu) c.11927C>T (p.Pro3976Leu) c.11552C>T (p.Pro3851Leu) c.12641C>T (p.Pro4214Leu) c.11690C>T (p.Pro3897Leu) c.11738C>T (p.Pro3913Leu) c.11597C>T (p.Pro3866Leu) c.11693C>T (p.Pro3898Leu) c.10364-2232C>T (n.10364-2232C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.178740592G>C | CA349611251 | TTN | c.10361-2232C>G (n.10361-2232C>G) c.12128C>G (p.Pro4043Arg) c.11927C>G (p.Pro3976Arg) c.11552C>G (p.Pro3851Arg) c.12641C>G (p.Pro4214Arg) c.11690C>G (p.Pro3897Arg) c.11738C>G (p.Pro3913Arg) c.11597C>G (p.Pro3866Arg) c.11693C>G (p.Pro3898Arg) c.10364-2232C>G (n.10364-2232C>G) | |
| 2 | g.178740592G= | CA1310601502 | TTN | c.10361-2232C= (n.10361-2232C=) c.12128C= (p.Pro4043=) c.11927C= (p.Pro3976=) c.11552C= (p.Pro3851=) c.12641C= (p.Pro4214=) c.11690C= (p.Pro3897=) c.11738C= (p.Pro3913=) c.11597C= (p.Pro3866=) c.11693C= (p.Pro3898=) c.10364-2232C= (n.10364-2232C=) | |
| 2 | g.178740592G>T | CA349611248 | TTN | c.10361-2232C>A (n.10361-2232C>A) c.12128C>A (p.Pro4043Gln) c.11927C>A (p.Pro3976Gln) c.11552C>A (p.Pro3851Gln) c.12641C>A (p.Pro4214Gln) c.11690C>A (p.Pro3897Gln) c.11738C>A (p.Pro3913Gln) c.11597C>A (p.Pro3866Gln) c.11693C>A (p.Pro3898Gln) c.10364-2232C>A (n.10364-2232C>A) |