| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 2 | g.178740397T>A | CA349610210 | TTN | c.10361-2037A>T (n.10361-2037A>T) c.12323A>T (p.Asp4108Val) c.12122A>T (p.Asp4041Val) c.11747A>T (p.Asp3916Val) c.12836A>T (p.Asp4279Val) c.11885A>T (p.Asp3962Val) c.11933A>T (p.Asp3978Val) c.11792A>T (p.Asp3931Val) c.11888A>T (p.Asp3963Val) c.10364-2037A>T (n.10364-2037A>T) | gnomAD v4 |
| 2 | g.178740397T>C | CA349610212 | TTN | c.10361-2037A>G (n.10361-2037A>G) c.12323A>G (p.Asp4108Gly) c.12122A>G (p.Asp4041Gly) c.11747A>G (p.Asp3916Gly) c.12836A>G (p.Asp4279Gly) c.11885A>G (p.Asp3962Gly) c.11933A>G (p.Asp3978Gly) c.11792A>G (p.Asp3931Gly) c.11888A>G (p.Asp3963Gly) c.10364-2037A>G (n.10364-2037A>G) | |
| 2 | g.178740397T>G | CA349610214 | TTN | c.10361-2037A>C (n.10361-2037A>C) c.12323A>C (p.Asp4108Ala) c.12122A>C (p.Asp4041Ala) c.11747A>C (p.Asp3916Ala) c.12836A>C (p.Asp4279Ala) c.11885A>C (p.Asp3962Ala) c.11933A>C (p.Asp3978Ala) c.11792A>C (p.Asp3931Ala) c.11888A>C (p.Asp3963Ala) c.10364-2037A>C (n.10364-2037A>C) | |
| 2 | g.178740398C>A | CA349610219 | TTN | c.10361-2038G>T (n.10361-2038G>T) c.12322G>T (p.Asp4108Tyr) c.12121G>T (p.Asp4041Tyr) c.11746G>T (p.Asp3916Tyr) c.12835G>T (p.Asp4279Tyr) c.11884G>T (p.Asp3962Tyr) c.11932G>T (p.Asp3978Tyr) c.11791G>T (p.Asp3931Tyr) c.11887G>T (p.Asp3963Tyr) c.10364-2038G>T (n.10364-2038G>T) | |
| 2 | g.178740398C= | CA1310601328 | TTN | c.10361-2038G= (n.10361-2038G=) c.12322G= (p.Asp4108=) c.12121G= (p.Asp4041=) c.11746G= (p.Asp3916=) c.12835G= (p.Asp4279=) c.11884G= (p.Asp3962=) c.11932G= (p.Asp3978=) c.11791G= (p.Asp3931=) c.11887G= (p.Asp3963=) c.10364-2038G= (n.10364-2038G=) | |
| 2 | g.178740398C>G | CA349610217 | TTN | c.10361-2038G>C (n.10361-2038G>C) c.12322G>C (p.Asp4108His) c.12121G>C (p.Asp4041His) c.11746G>C (p.Asp3916His) c.12835G>C (p.Asp4279His) c.11884G>C (p.Asp3962His) c.11932G>C (p.Asp3978His) c.11791G>C (p.Asp3931His) c.11887G>C (p.Asp3963His) c.10364-2038G>C (n.10364-2038G>C) | |
| 2 | g.178740398C>T | CA2002663 | TTN | c.10361-2038G>A (n.10361-2038G>A) c.12322G>A (p.Asp4108Asn) c.12121G>A (p.Asp4041Asn) c.11746G>A (p.Asp3916Asn) c.12835G>A (p.Asp4279Asn) c.11884G>A (p.Asp3962Asn) c.11932G>A (p.Asp3978Asn) c.11791G>A (p.Asp3931Asn) c.11887G>A (p.Asp3963Asn) c.10364-2038G>A (n.10364-2038G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.178740399A= | CA1310601330 | TTN | c.10361-2039T= (n.10361-2039T=) c.12321T= (p.Pro4107=) c.12120T= (p.Pro4040=) c.11745T= (p.Pro3915=) c.12834T= (p.Pro4278=) c.11883T= (p.Pro3961=) c.11931T= (p.Pro3977=) c.11790T= (p.Pro3930=) c.11886T= (p.Pro3962=) c.10364-2039T= (n.10364-2039T=) | |
| 2 | g.178740399A>C | CA430295992 | TTN | c.10361-2039T>G (n.10361-2039T>G) c.12321T>G (p.Pro4107=) c.12120T>G (p.Pro4040=) c.11745T>G (p.Pro3915=) c.12834T>G (p.Pro4278=) c.11883T>G (p.Pro3961=) c.11931T>G (p.Pro3977=) c.11790T>G (p.Pro3930=) c.11886T>G (p.Pro3962=) c.10364-2039T>G (n.10364-2039T>G) | ClinVar dbSNP gnomAD v4 |
| 2 | g.178740399A>G | CA430295990 | TTN | c.10361-2039T>C (n.10361-2039T>C) c.12321T>C (p.Pro4107=) c.12120T>C (p.Pro4040=) c.11745T>C (p.Pro3915=) c.12834T>C (p.Pro4278=) c.11883T>C (p.Pro3961=) c.11931T>C (p.Pro3977=) c.11790T>C (p.Pro3930=) c.11886T>C (p.Pro3962=) c.10364-2039T>C (n.10364-2039T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178740399A>T | CA430295989 | TTN | c.10361-2039T>A (n.10361-2039T>A) c.12321T>A (p.Pro4107=) c.12120T>A (p.Pro4040=) c.11745T>A (p.Pro3915=) c.12834T>A (p.Pro4278=) c.11883T>A (p.Pro3961=) c.11931T>A (p.Pro3977=) c.11790T>A (p.Pro3930=) c.11886T>A (p.Pro3962=) c.10364-2039T>A (n.10364-2039T>A) | dbSNP |
| 2 | g.178740400G>A | CA349610222 | TTN | c.10361-2040C>T (n.10361-2040C>T) c.12320C>T (p.Pro4107Leu) c.12119C>T (p.Pro4040Leu) c.11744C>T (p.Pro3915Leu) c.12833C>T (p.Pro4278Leu) c.11882C>T (p.Pro3961Leu) c.11930C>T (p.Pro3977Leu) c.11789C>T (p.Pro3930Leu) c.11885C>T (p.Pro3962Leu) c.10364-2040C>T (n.10364-2040C>T) | |
| 2 | g.178740400G>C | CA349610225 | TTN | c.10361-2040C>G (n.10361-2040C>G) c.12320C>G (p.Pro4107Arg) c.12119C>G (p.Pro4040Arg) c.11744C>G (p.Pro3915Arg) c.12833C>G (p.Pro4278Arg) c.11882C>G (p.Pro3961Arg) c.11930C>G (p.Pro3977Arg) c.11789C>G (p.Pro3930Arg) c.11885C>G (p.Pro3962Arg) c.10364-2040C>G (n.10364-2040C>G) | gnomAD v4 |
| 2 | g.178740400G>T | CA349610223 | TTN | c.10361-2040C>A (n.10361-2040C>A) c.12320C>A (p.Pro4107His) c.12119C>A (p.Pro4040His) c.11744C>A (p.Pro3915His) c.12833C>A (p.Pro4278His) c.11882C>A (p.Pro3961His) c.11930C>A (p.Pro3977His) c.11789C>A (p.Pro3930His) c.11885C>A (p.Pro3962His) c.10364-2040C>A (n.10364-2040C>A) | |
| 2 | g.178740401G>A | CA349610227 | TTN | c.10361-2041C>T (n.10361-2041C>T) c.12319C>T (p.Pro4107Ser) c.12118C>T (p.Pro4040Ser) c.11743C>T (p.Pro3915Ser) c.12832C>T (p.Pro4278Ser) c.11881C>T (p.Pro3961Ser) c.11929C>T (p.Pro3977Ser) c.11788C>T (p.Pro3930Ser) c.11884C>T (p.Pro3962Ser) c.10364-2041C>T (n.10364-2041C>T) | |
| 2 | g.178740401G>C | CA349610231 | TTN | c.10361-2041C>G (n.10361-2041C>G) c.12319C>G (p.Pro4107Ala) c.12118C>G (p.Pro4040Ala) c.11743C>G (p.Pro3915Ala) c.12832C>G (p.Pro4278Ala) c.11881C>G (p.Pro3961Ala) c.11929C>G (p.Pro3977Ala) c.11788C>G (p.Pro3930Ala) c.11884C>G (p.Pro3962Ala) c.10364-2041C>G (n.10364-2041C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.178740401G= | CA1310601332 | TTN | c.10361-2041C= (n.10361-2041C=) c.12319C= (p.Pro4107=) c.12118C= (p.Pro4040=) c.11743C= (p.Pro3915=) c.12832C= (p.Pro4278=) c.11881C= (p.Pro3961=) c.11929C= (p.Pro3977=) c.11788C= (p.Pro3930=) c.11884C= (p.Pro3962=) c.10364-2041C= (n.10364-2041C=) | |
| 2 | g.178740401G>T | CA349610229 | TTN | c.10361-2041C>A (n.10361-2041C>A) c.12319C>A (p.Pro4107Thr) c.12118C>A (p.Pro4040Thr) c.11743C>A (p.Pro3915Thr) c.12832C>A (p.Pro4278Thr) c.11881C>A (p.Pro3961Thr) c.11929C>A (p.Pro3977Thr) c.11788C>A (p.Pro3930Thr) c.11884C>A (p.Pro3962Thr) c.10364-2041C>A (n.10364-2041C>A) |