| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178740383G>A | CA349610150 | TTN | c.10361-2023C>T (n.10361-2023C>T) c.12337C>T (p.Gln4113Ter) c.12136C>T (p.Gln4046Ter) c.11761C>T (p.Gln3921Ter) c.12850C>T (p.Gln4284Ter) c.11899C>T (p.Gln3967Ter) c.11947C>T (p.Gln3983Ter) c.11806C>T (p.Gln3936Ter) c.11902C>T (p.Gln3968Ter) c.10364-2023C>T (n.10364-2023C>T) | ClinVar dbSNP |
| 2 | g.178740383G>C | CA349610151 | TTN | c.10361-2023C>G (n.10361-2023C>G) c.12337C>G (p.Gln4113Glu) c.12136C>G (p.Gln4046Glu) c.11761C>G (p.Gln3921Glu) c.12850C>G (p.Gln4284Glu) c.11899C>G (p.Gln3967Glu) c.11947C>G (p.Gln3983Glu) c.11806C>G (p.Gln3936Glu) c.11902C>G (p.Gln3968Glu) c.10364-2023C>G (n.10364-2023C>G) | |
| 2 | g.178740383G= | CA1310601314 | TTN | c.10361-2023C= (n.10361-2023C=) c.12337C= (p.Gln4113=) c.12136C= (p.Gln4046=) c.11761C= (p.Gln3921=) c.12850C= (p.Gln4284=) c.11899C= (p.Gln3967=) c.11947C= (p.Gln3983=) c.11806C= (p.Gln3936=) c.11902C= (p.Gln3968=) c.10364-2023C= (n.10364-2023C=) | |
| 2 | g.178740383G>T | CA349610153 | TTN | c.10361-2023C>A (n.10361-2023C>A) c.12337C>A (p.Gln4113Lys) c.12136C>A (p.Gln4046Lys) c.11761C>A (p.Gln3921Lys) c.12850C>A (p.Gln4284Lys) c.11899C>A (p.Gln3967Lys) c.11947C>A (p.Gln3983Lys) c.11806C>A (p.Gln3936Lys) c.11902C>A (p.Gln3968Lys) c.10364-2023C>A (n.10364-2023C>A) | |
| 2 | g.178740384A= | CA1310601316 | TTN | c.10361-2024T= (n.10361-2024T=) c.12336T= (p.Ser4112=) c.12135T= (p.Ser4045=) c.11760T= (p.Ser3920=) c.12849T= (p.Ser4283=) c.11898T= (p.Ser3966=) c.11946T= (p.Ser3982=) c.11805T= (p.Ser3935=) c.11901T= (p.Ser3967=) c.10364-2024T= (n.10364-2024T=) | |
| 2 | g.178740384A>C | CA430295960 | TTN | c.10361-2024T>G (n.10361-2024T>G) c.12336T>G (p.Ser4112=) c.12135T>G (p.Ser4045=) c.11760T>G (p.Ser3920=) c.12849T>G (p.Ser4283=) c.11898T>G (p.Ser3966=) c.11946T>G (p.Ser3982=) c.11805T>G (p.Ser3935=) c.11901T>G (p.Ser3967=) c.10364-2024T>G (n.10364-2024T>G) | |
| 2 | g.178740384A>G | CA430295962 | TTN | c.10361-2024T>C (n.10361-2024T>C) c.12336T>C (p.Ser4112=) c.12135T>C (p.Ser4045=) c.11760T>C (p.Ser3920=) c.12849T>C (p.Ser4283=) c.11898T>C (p.Ser3966=) c.11946T>C (p.Ser3982=) c.11805T>C (p.Ser3935=) c.11901T>C (p.Ser3967=) c.10364-2024T>C (n.10364-2024T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.178740384A>T | CA430295961 | TTN | c.10361-2024T>A (n.10361-2024T>A) c.12336T>A (p.Ser4112=) c.12135T>A (p.Ser4045=) c.11760T>A (p.Ser3920=) c.12849T>A (p.Ser4283=) c.11898T>A (p.Ser3966=) c.11946T>A (p.Ser3982=) c.11805T>A (p.Ser3935=) c.11901T>A (p.Ser3967=) c.10364-2024T>A (n.10364-2024T>A) | |
| 2 | g.178740385G>A | CA349610156 | TTN | c.10361-2025C>T (n.10361-2025C>T) c.12335C>T (p.Ser4112Phe) c.12134C>T (p.Ser4045Phe) c.11759C>T (p.Ser3920Phe) c.12848C>T (p.Ser4283Phe) c.11897C>T (p.Ser3966Phe) c.11945C>T (p.Ser3982Phe) c.11804C>T (p.Ser3935Phe) c.11900C>T (p.Ser3967Phe) c.10364-2025C>T (n.10364-2025C>T) | |
| 2 | g.178740385G>C | CA349610157 | TTN | c.10361-2025C>G (n.10361-2025C>G) c.12335C>G (p.Ser4112Cys) c.12134C>G (p.Ser4045Cys) c.11759C>G (p.Ser3920Cys) c.12848C>G (p.Ser4283Cys) c.11897C>G (p.Ser3966Cys) c.11945C>G (p.Ser3982Cys) c.11804C>G (p.Ser3935Cys) c.11900C>G (p.Ser3967Cys) c.10364-2025C>G (n.10364-2025C>G) | |
| 2 | g.178740385G>T | CA349610158 | TTN | c.10361-2025C>A (n.10361-2025C>A) c.12335C>A (p.Ser4112Tyr) c.12134C>A (p.Ser4045Tyr) c.11759C>A (p.Ser3920Tyr) c.12848C>A (p.Ser4283Tyr) c.11897C>A (p.Ser3966Tyr) c.11945C>A (p.Ser3982Tyr) c.11804C>A (p.Ser3935Tyr) c.11900C>A (p.Ser3967Tyr) c.10364-2025C>A (n.10364-2025C>A) | COSMIC COSMIC |
| 2 | g.178740385dup | CA2662152725 | TTN | c.10361-2025dup (n.10361-2025dup) c.12335dup (p.Gln4113SerfsTer5) c.12134dup (p.Gln4046SerfsTer5) c.11759dup (p.Gln3921SerfsTer5) c.12848dup (p.Gln4284SerfsTer5) c.11897dup (p.Gln3967SerfsTer5) c.11945dup (p.Gln3983SerfsTer5) c.11804dup (p.Gln3936SerfsTer5) c.11900dup (p.Gln3968SerfsTer5) c.10364-2025dup (n.10364-2025dup) | gnomAD v4 |
| 2 | g.178740386A>C | CA349610165 | TTN | c.10361-2026T>G (n.10361-2026T>G) c.12334T>G (p.Ser4112Ala) c.12133T>G (p.Ser4045Ala) c.11758T>G (p.Ser3920Ala) c.12847T>G (p.Ser4283Ala) c.11896T>G (p.Ser3966Ala) c.11944T>G (p.Ser3982Ala) c.11803T>G (p.Ser3935Ala) c.11899T>G (p.Ser3967Ala) c.10364-2026T>G (n.10364-2026T>G) | |
| 2 | g.178740386A>G | CA349610163 | TTN | c.10361-2026T>C (n.10361-2026T>C) c.12334T>C (p.Ser4112Pro) c.12133T>C (p.Ser4045Pro) c.11758T>C (p.Ser3920Pro) c.12847T>C (p.Ser4283Pro) c.11896T>C (p.Ser3966Pro) c.11944T>C (p.Ser3982Pro) c.11803T>C (p.Ser3935Pro) c.11899T>C (p.Ser3967Pro) c.10364-2026T>C (n.10364-2026T>C) | |
| 2 | g.178740386A>T | CA349610162 | TTN | c.10361-2026T>A (n.10361-2026T>A) c.12334T>A (p.Ser4112Thr) c.12133T>A (p.Ser4045Thr) c.11758T>A (p.Ser3920Thr) c.12847T>A (p.Ser4283Thr) c.11896T>A (p.Ser3966Thr) c.11944T>A (p.Ser3982Thr) c.11803T>A (p.Ser3935Thr) c.11899T>A (p.Ser3967Thr) c.10364-2026T>A (n.10364-2026T>A) | |
| 2 | g.178740387G>A | CA430295966 | TTN | c.10361-2027C>T (n.10361-2027C>T) c.12333C>T (p.Ile4111=) c.12132C>T (p.Ile4044=) c.11757C>T (p.Ile3919=) c.12846C>T (p.Ile4282=) c.11895C>T (p.Ile3965=) c.11943C>T (p.Ile3981=) c.11802C>T (p.Ile3934=) c.11898C>T (p.Ile3966=) c.10364-2027C>T (n.10364-2027C>T) | |
| 2 | g.178740387G>C | CA349610167 | TTN | c.10361-2027C>G (n.10361-2027C>G) c.12333C>G (p.Ile4111Met) c.12132C>G (p.Ile4044Met) c.11757C>G (p.Ile3919Met) c.12846C>G (p.Ile4282Met) c.11895C>G (p.Ile3965Met) c.11943C>G (p.Ile3981Met) c.11802C>G (p.Ile3934Met) c.11898C>G (p.Ile3966Met) c.10364-2027C>G (n.10364-2027C>G) | |
| 2 | g.178740387G>T | CA430295968 | TTN | c.10361-2027C>A (n.10361-2027C>A) c.12333C>A (p.Ile4111=) c.12132C>A (p.Ile4044=) c.11757C>A (p.Ile3919=) c.12846C>A (p.Ile4282=) c.11895C>A (p.Ile3965=) c.11943C>A (p.Ile3981=) c.11802C>A (p.Ile3934=) c.11898C>A (p.Ile3966=) c.10364-2027C>A (n.10364-2027C>A) | |
| 2 | g.178740388A= | CA1310601317 | TTN | c.10361-2028T= (n.10361-2028T=) c.12332T= (p.Ile4111=) c.12131T= (p.Ile4044=) c.11756T= (p.Ile3919=) c.12845T= (p.Ile4282=) c.11894T= (p.Ile3965=) c.11942T= (p.Ile3981=) c.11801T= (p.Ile3934=) c.11897T= (p.Ile3966=) c.10364-2028T= (n.10364-2028T=) | |
| 2 | g.178740388A>C | CA349610170 | TTN | c.10361-2028T>G (n.10361-2028T>G) c.12332T>G (p.Ile4111Ser) c.12131T>G (p.Ile4044Ser) c.11756T>G (p.Ile3919Ser) c.12845T>G (p.Ile4282Ser) c.11894T>G (p.Ile3965Ser) c.11942T>G (p.Ile3981Ser) c.11801T>G (p.Ile3934Ser) c.11897T>G (p.Ile3966Ser) c.10364-2028T>G (n.10364-2028T>G) | |
| 2 | g.178740388A>G | CA349610172 | TTN | c.10361-2028T>C (n.10361-2028T>C) c.12332T>C (p.Ile4111Thr) c.12131T>C (p.Ile4044Thr) c.11756T>C (p.Ile3919Thr) c.12845T>C (p.Ile4282Thr) c.11894T>C (p.Ile3965Thr) c.11942T>C (p.Ile3981Thr) c.11801T>C (p.Ile3934Thr) c.11897T>C (p.Ile3966Thr) c.10364-2028T>C (n.10364-2028T>C) | dbSNP gnomAD v4 |
| 2 | g.178740388A>T | CA2002659 | TTN | c.10361-2028T>A (n.10361-2028T>A) c.12332T>A (p.Ile4111Asn) c.12131T>A (p.Ile4044Asn) c.11756T>A (p.Ile3919Asn) c.12845T>A (p.Ile4282Asn) c.11894T>A (p.Ile3965Asn) c.11942T>A (p.Ile3981Asn) c.11801T>A (p.Ile3934Asn) c.11897T>A (p.Ile3966Asn) c.10364-2028T>A (n.10364-2028T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178740389T>A | CA349610175 | TTN | c.10361-2029A>T (n.10361-2029A>T) c.12331A>T (p.Ile4111Phe) c.12130A>T (p.Ile4044Phe) c.11755A>T (p.Ile3919Phe) c.12844A>T (p.Ile4282Phe) c.11893A>T (p.Ile3965Phe) c.11941A>T (p.Ile3981Phe) c.11800A>T (p.Ile3934Phe) c.11896A>T (p.Ile3966Phe) c.10364-2029A>T (n.10364-2029A>T) | |
| 2 | g.178740389T>C | CA349610177 | TTN | c.10361-2029A>G (n.10361-2029A>G) c.12331A>G (p.Ile4111Val) c.12130A>G (p.Ile4044Val) c.11755A>G (p.Ile3919Val) c.12844A>G (p.Ile4282Val) c.11893A>G (p.Ile3965Val) c.11941A>G (p.Ile3981Val) c.11800A>G (p.Ile3934Val) c.11896A>G (p.Ile3966Val) c.10364-2029A>G (n.10364-2029A>G) | |
| 2 | g.178740389T>G | CA2002660 | TTN | c.10361-2029A>C (n.10361-2029A>C) c.12331A>C (p.Ile4111Leu) c.12130A>C (p.Ile4044Leu) c.11755A>C (p.Ile3919Leu) c.12844A>C (p.Ile4282Leu) c.11893A>C (p.Ile3965Leu) c.11941A>C (p.Ile3981Leu) c.11800A>C (p.Ile3934Leu) c.11896A>C (p.Ile3966Leu) c.10364-2029A>C (n.10364-2029A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178740389T= | CA1310601320 | TTN | c.10361-2029A= (n.10361-2029A=) c.12331A= (p.Ile4111=) c.12130A= (p.Ile4044=) c.11755A= (p.Ile3919=) c.12844A= (p.Ile4282=) c.11893A= (p.Ile3965=) c.11941A= (p.Ile3981=) c.11800A= (p.Ile3934=) c.11896A= (p.Ile3966=) c.10364-2029A= (n.10364-2029A=) | |
| 2 | g.178740390C>A | CA2002661 | TTN | c.10361-2030G>T (n.10361-2030G>T) c.12330G>T (p.Met4110Ile) c.12129G>T (p.Met4043Ile) c.11754G>T (p.Met3918Ile) c.12843G>T (p.Met4281Ile) c.11892G>T (p.Met3964Ile) c.11940G>T (p.Met3980Ile) c.11799G>T (p.Met3933Ile) c.11895G>T (p.Met3965Ile) c.10364-2030G>T (n.10364-2030G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.178740390C= | CA1310601322 | TTN | c.10361-2030G= (n.10361-2030G=) c.12330G= (p.Met4110=) c.12129G= (p.Met4043=) c.11754G= (p.Met3918=) c.12843G= (p.Met4281=) c.11892G= (p.Met3964=) c.11940G= (p.Met3980=) c.11799G= (p.Met3933=) c.11895G= (p.Met3965=) c.10364-2030G= (n.10364-2030G=) | |
| 2 | g.178740390C>G | CA349610181 | TTN | c.10361-2030G>C (n.10361-2030G>C) c.12330G>C (p.Met4110Ile) c.12129G>C (p.Met4043Ile) c.11754G>C (p.Met3918Ile) c.12843G>C (p.Met4281Ile) c.11892G>C (p.Met3964Ile) c.11940G>C (p.Met3980Ile) c.11799G>C (p.Met3933Ile) c.11895G>C (p.Met3965Ile) c.10364-2030G>C (n.10364-2030G>C) | |
| 2 | g.178740390C>T | CA349610183 | TTN | c.10361-2030G>A (n.10361-2030G>A) c.12330G>A (p.Met4110Ile) c.12129G>A (p.Met4043Ile) c.11754G>A (p.Met3918Ile) c.12843G>A (p.Met4281Ile) c.11892G>A (p.Met3964Ile) c.11940G>A (p.Met3980Ile) c.11799G>A (p.Met3933Ile) c.11895G>A (p.Met3965Ile) c.10364-2030G>A (n.10364-2030G>A) | |
| 2 | g.178740391A>C | CA349610185 | TTN | c.10361-2031T>G (n.10361-2031T>G) c.12329T>G (p.Met4110Arg) c.12128T>G (p.Met4043Arg) c.11753T>G (p.Met3918Arg) c.12842T>G (p.Met4281Arg) c.11891T>G (p.Met3964Arg) c.11939T>G (p.Met3980Arg) c.11798T>G (p.Met3933Arg) c.11894T>G (p.Met3965Arg) c.10364-2031T>G (n.10364-2031T>G) | |
| 2 | g.178740391A>G | CA349610186 | TTN | c.10361-2031T>C (n.10361-2031T>C) c.12329T>C (p.Met4110Thr) c.12128T>C (p.Met4043Thr) c.11753T>C (p.Met3918Thr) c.12842T>C (p.Met4281Thr) c.11891T>C (p.Met3964Thr) c.11939T>C (p.Met3980Thr) c.11798T>C (p.Met3933Thr) c.11894T>C (p.Met3965Thr) c.10364-2031T>C (n.10364-2031T>C) | |
| 2 | g.178740391A>T | CA349610187 | TTN | c.10361-2031T>A (n.10361-2031T>A) c.12329T>A (p.Met4110Lys) c.12128T>A (p.Met4043Lys) c.11753T>A (p.Met3918Lys) c.12842T>A (p.Met4281Lys) c.11891T>A (p.Met3964Lys) c.11939T>A (p.Met3980Lys) c.11798T>A (p.Met3933Lys) c.11894T>A (p.Met3965Lys) c.10364-2031T>A (n.10364-2031T>A) | |
| 2 | g.178740392T>A | CA349610192 | TTN | c.10361-2032A>T (n.10361-2032A>T) c.12328A>T (p.Met4110Leu) c.12127A>T (p.Met4043Leu) c.11752A>T (p.Met3918Leu) c.12841A>T (p.Met4281Leu) c.11890A>T (p.Met3964Leu) c.11938A>T (p.Met3980Leu) c.11797A>T (p.Met3933Leu) c.11893A>T (p.Met3965Leu) c.10364-2032A>T (n.10364-2032A>T) | |
| 2 | g.178740392T>C | CA349610188 | TTN | c.10361-2032A>G (n.10361-2032A>G) c.12328A>G (p.Met4110Val) c.12127A>G (p.Met4043Val) c.11752A>G (p.Met3918Val) c.12841A>G (p.Met4281Val) c.11890A>G (p.Met3964Val) c.11938A>G (p.Met3980Val) c.11797A>G (p.Met3933Val) c.11893A>G (p.Met3965Val) c.10364-2032A>G (n.10364-2032A>G) | |
| 2 | g.178740392T>G | CA349610190 | TTN | c.10361-2032A>C (n.10361-2032A>C) c.12328A>C (p.Met4110Leu) c.12127A>C (p.Met4043Leu) c.11752A>C (p.Met3918Leu) c.12841A>C (p.Met4281Leu) c.11890A>C (p.Met3964Leu) c.11938A>C (p.Met3980Leu) c.11797A>C (p.Met3933Leu) c.11893A>C (p.Met3965Leu) c.10364-2032A>C (n.10364-2032A>C) | |
| 2 | g.178740393G>A | CA430295978 | TTN | c.10361-2033C>T (n.10361-2033C>T) c.12327C>T (p.Val4109=) c.12126C>T (p.Val4042=) c.11751C>T (p.Val3917=) c.12840C>T (p.Val4280=) c.11889C>T (p.Val3963=) c.11937C>T (p.Val3979=) c.11796C>T (p.Val3932=) c.11892C>T (p.Val3964=) c.10364-2033C>T (n.10364-2033C>T) | COSMIC COSMIC |
| 2 | g.178740393G>C | CA430295979 | TTN | c.10361-2033C>G (n.10361-2033C>G) c.12327C>G (p.Val4109=) c.12126C>G (p.Val4042=) c.11751C>G (p.Val3917=) c.12840C>G (p.Val4280=) c.11889C>G (p.Val3963=) c.11937C>G (p.Val3979=) c.11796C>G (p.Val3932=) c.11892C>G (p.Val3964=) c.10364-2033C>G (n.10364-2033C>G) | |
| 2 | g.178740393G>T | CA430295981 | TTN | c.10361-2033C>A (n.10361-2033C>A) c.12327C>A (p.Val4109=) c.12126C>A (p.Val4042=) c.11751C>A (p.Val3917=) c.12840C>A (p.Val4280=) c.11889C>A (p.Val3963=) c.11937C>A (p.Val3979=) c.11796C>A (p.Val3932=) c.11892C>A (p.Val3964=) c.10364-2033C>A (n.10364-2033C>A) | |
| 2 | g.178740394A>C | CA349610193 | TTN | c.10361-2034T>G (n.10361-2034T>G) c.12326T>G (p.Val4109Gly) c.12125T>G (p.Val4042Gly) c.11750T>G (p.Val3917Gly) c.12839T>G (p.Val4280Gly) c.11888T>G (p.Val3963Gly) c.11936T>G (p.Val3979Gly) c.11795T>G (p.Val3932Gly) c.11891T>G (p.Val3964Gly) c.10364-2034T>G (n.10364-2034T>G) | |
| 2 | g.178740394A>G | CA349610195 | TTN | c.10361-2034T>C (n.10361-2034T>C) c.12326T>C (p.Val4109Ala) c.12125T>C (p.Val4042Ala) c.11750T>C (p.Val3917Ala) c.12839T>C (p.Val4280Ala) c.11888T>C (p.Val3963Ala) c.11936T>C (p.Val3979Ala) c.11795T>C (p.Val3932Ala) c.11891T>C (p.Val3964Ala) c.10364-2034T>C (n.10364-2034T>C) | |
| 2 | g.178740394A>T | CA349610197 | TTN | c.10361-2034T>A (n.10361-2034T>A) c.12326T>A (p.Val4109Asp) c.12125T>A (p.Val4042Asp) c.11750T>A (p.Val3917Asp) c.12839T>A (p.Val4280Asp) c.11888T>A (p.Val3963Asp) c.11936T>A (p.Val3979Asp) c.11795T>A (p.Val3932Asp) c.11891T>A (p.Val3964Asp) c.10364-2034T>A (n.10364-2034T>A) | |
| 2 | g.178740395C>A | CA349610199 | TTN | c.10361-2035G>T (n.10361-2035G>T) c.12325G>T (p.Val4109Phe) c.12124G>T (p.Val4042Phe) c.11749G>T (p.Val3917Phe) c.12838G>T (p.Val4280Phe) c.11887G>T (p.Val3963Phe) c.11935G>T (p.Val3979Phe) c.11794G>T (p.Val3932Phe) c.11890G>T (p.Val3964Phe) c.10364-2035G>T (n.10364-2035G>T) | |
| 2 | g.178740395C= | CA1310601324 | TTN | c.10361-2035G= (n.10361-2035G=) c.12325G= (p.Val4109=) c.12124G= (p.Val4042=) c.11749G= (p.Val3917=) c.12838G= (p.Val4280=) c.11887G= (p.Val3963=) c.11935G= (p.Val3979=) c.11794G= (p.Val3932=) c.11890G= (p.Val3964=) c.10364-2035G= (n.10364-2035G=) | |
| 2 | g.178740395C>G | CA349610201 | TTN | c.10361-2035G>C (n.10361-2035G>C) c.12325G>C (p.Val4109Leu) c.12124G>C (p.Val4042Leu) c.11749G>C (p.Val3917Leu) c.12838G>C (p.Val4280Leu) c.11887G>C (p.Val3963Leu) c.11935G>C (p.Val3979Leu) c.11794G>C (p.Val3932Leu) c.11890G>C (p.Val3964Leu) c.10364-2035G>C (n.10364-2035G>C) | |
| 2 | g.178740395C>T | CA60984030 | TTN | c.10361-2035G>A (n.10361-2035G>A) c.12325G>A (p.Val4109Ile) c.12124G>A (p.Val4042Ile) c.11749G>A (p.Val3917Ile) c.12838G>A (p.Val4280Ile) c.11887G>A (p.Val3963Ile) c.11935G>A (p.Val3979Ile) c.11794G>A (p.Val3932Ile) c.11890G>A (p.Val3964Ile) c.10364-2035G>A (n.10364-2035G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178740396A= | CA1310601326 | TTN | c.10361-2036T= (n.10361-2036T=) c.12324T= (p.Asp4108=) c.12123T= (p.Asp4041=) c.11748T= (p.Asp3916=) c.12837T= (p.Asp4279=) c.11886T= (p.Asp3962=) c.11934T= (p.Asp3978=) c.11793T= (p.Asp3931=) c.11889T= (p.Asp3963=) c.10364-2036T= (n.10364-2036T=) | |
| 2 | g.178740396A>C | CA349610205 | TTN | c.10361-2036T>G (n.10361-2036T>G) c.12324T>G (p.Asp4108Glu) c.12123T>G (p.Asp4041Glu) c.11748T>G (p.Asp3916Glu) c.12837T>G (p.Asp4279Glu) c.11886T>G (p.Asp3962Glu) c.11934T>G (p.Asp3978Glu) c.11793T>G (p.Asp3931Glu) c.11889T>G (p.Asp3963Glu) c.10364-2036T>G (n.10364-2036T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178740396A>G | CA2002662 | TTN | c.10361-2036T>C (n.10361-2036T>C) c.12324T>C (p.Asp4108=) c.12123T>C (p.Asp4041=) c.11748T>C (p.Asp3916=) c.12837T>C (p.Asp4279=) c.11886T>C (p.Asp3962=) c.11934T>C (p.Asp3978=) c.11793T>C (p.Asp3931=) c.11889T>C (p.Asp3963=) c.10364-2036T>C (n.10364-2036T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178740396A>T | CA349610208 | TTN | c.10361-2036T>A (n.10361-2036T>A) c.12324T>A (p.Asp4108Glu) c.12123T>A (p.Asp4041Glu) c.11748T>A (p.Asp3916Glu) c.12837T>A (p.Asp4279Glu) c.11886T>A (p.Asp3962Glu) c.11934T>A (p.Asp3978Glu) c.11793T>A (p.Asp3931Glu) c.11889T>A (p.Asp3963Glu) c.10364-2036T>A (n.10364-2036T>A) | gnomAD v4 |