| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178614636G>A | CA349607606 | TTN,TTN-AS1 | c.41174C>T (p.Thr13725Ile) c.22259C>T (p.Thr7420Ile) c.22058C>T (p.Thr7353Ile) c.21683C>T (p.Thr7228Ile) c.48878C>T (p.Thr16293Ile) c.43955C>T (p.Thr14652Ile) n.1384G>A c.47975C>T (p.Thr15992Ile) c.21869C>T (p.Thr7290Ile) c.21728C>T (p.Thr7243Ile) c.47771C>T (p.Thr15924Ile) c.43169C>T (p.Thr14390Ile) c.43166C>T (p.Thr14389Ile) c.40208C>T (p.Thr13403Ile) c.21824C>T (p.Thr7275Ile) c.43319C>T (p.Thr14440Ile) c.43316C>T (p.Thr14439Ile) c.42749C>T (p.Thr14250Ile) c.40091C>T (p.Thr13364Ile) c.40010C>T (p.Thr13337Ile) c.21773C>T (p.Thr7258Ile) c.11627C>T (p.Thr3876Ile) | |
| 2 | g.178614636G>C | CA349607607 | TTN,TTN-AS1 | c.41174C>G (p.Thr13725Arg) c.22259C>G (p.Thr7420Arg) c.22058C>G (p.Thr7353Arg) c.21683C>G (p.Thr7228Arg) c.48878C>G (p.Thr16293Arg) c.43955C>G (p.Thr14652Arg) n.1384G>C c.47975C>G (p.Thr15992Arg) c.21869C>G (p.Thr7290Arg) c.21728C>G (p.Thr7243Arg) c.47771C>G (p.Thr15924Arg) c.43169C>G (p.Thr14390Arg) c.43166C>G (p.Thr14389Arg) c.40208C>G (p.Thr13403Arg) c.21824C>G (p.Thr7275Arg) c.43319C>G (p.Thr14440Arg) c.43316C>G (p.Thr14439Arg) c.42749C>G (p.Thr14250Arg) c.40091C>G (p.Thr13364Arg) c.40010C>G (p.Thr13337Arg) c.21773C>G (p.Thr7258Arg) c.11627C>G (p.Thr3876Arg) | |
| 2 | g.178614636G>T | CA349607609 | TTN,TTN-AS1 | c.41174C>A (p.Thr13725Lys) c.22259C>A (p.Thr7420Lys) c.22058C>A (p.Thr7353Lys) c.21683C>A (p.Thr7228Lys) c.48878C>A (p.Thr16293Lys) c.43955C>A (p.Thr14652Lys) n.1384G>T c.47975C>A (p.Thr15992Lys) c.21869C>A (p.Thr7290Lys) c.21728C>A (p.Thr7243Lys) c.47771C>A (p.Thr15924Lys) c.43169C>A (p.Thr14390Lys) c.43166C>A (p.Thr14389Lys) c.40208C>A (p.Thr13403Lys) c.21824C>A (p.Thr7275Lys) c.43319C>A (p.Thr14440Lys) c.43316C>A (p.Thr14439Lys) c.42749C>A (p.Thr14250Lys) c.40091C>A (p.Thr13364Lys) c.40010C>A (p.Thr13337Lys) c.21773C>A (p.Thr7258Lys) c.11627C>A (p.Thr3876Lys) | gnomAD v4 |
| 2 | g.178614636_178614637insCAGT | CA2586970839 | TTN,TTN-AS1 | c.41173_41174insACTG (p.Thr13725AsnfsTer5) c.22258_22259insACTG (p.Thr7420AsnfsTer5) c.22057_22058insACTG (p.Thr7353AsnfsTer5) c.21682_21683insACTG (p.Thr7228AsnfsTer5) c.48877_48878insACTG (p.Thr16293AsnfsTer5) c.43954_43955insACTG (p.Thr14652AsnfsTer5) n.1384_1385insCAGT c.47974_47975insACTG (p.Thr15992AsnfsTer5) c.21868_21869insACTG (p.Thr7290AsnfsTer5) c.21727_21728insACTG (p.Thr7243AsnfsTer5) c.47770_47771insACTG (p.Thr15924AsnfsTer5) c.43168_43169insACTG (p.Thr14390AsnfsTer5) c.43165_43166insACTG (p.Thr14389AsnfsTer5) c.40207_40208insACTG (p.Thr13403AsnfsTer5) c.21823_21824insACTG (p.Thr7275AsnfsTer5) c.43318_43319insACTG (p.Thr14440AsnfsTer5) c.43315_43316insACTG (p.Thr14439AsnfsTer5) c.42748_42749insACTG (p.Thr14250AsnfsTer5) c.40090_40091insACTG (p.Thr13364AsnfsTer5) c.40009_40010insACTG (p.Thr13337AsnfsTer5) c.21772_21773insACTG (p.Thr7258AsnfsTer5) c.11626_11627insACTG (p.Thr3876AsnfsTer5) | |
| 2 | g.178614637T>A | CA349607615 | TTN,TTN-AS1 | c.41173A>T (p.Thr13725Ser) c.22258A>T (p.Thr7420Ser) c.22057A>T (p.Thr7353Ser) c.21682A>T (p.Thr7228Ser) c.48877A>T (p.Thr16293Ser) c.43954A>T (p.Thr14652Ser) n.1385T>A c.47974A>T (p.Thr15992Ser) c.21868A>T (p.Thr7290Ser) c.21727A>T (p.Thr7243Ser) c.47770A>T (p.Thr15924Ser) c.43168A>T (p.Thr14390Ser) c.43165A>T (p.Thr14389Ser) c.40207A>T (p.Thr13403Ser) c.21823A>T (p.Thr7275Ser) c.43318A>T (p.Thr14440Ser) c.43315A>T (p.Thr14439Ser) c.42748A>T (p.Thr14250Ser) c.40090A>T (p.Thr13364Ser) c.40009A>T (p.Thr13337Ser) c.21772A>T (p.Thr7258Ser) c.11626A>T (p.Thr3876Ser) | |
| 2 | g.178614637T>C | CA349607613 | TTN,TTN-AS1 | c.41173A>G (p.Thr13725Ala) c.22258A>G (p.Thr7420Ala) c.22057A>G (p.Thr7353Ala) c.21682A>G (p.Thr7228Ala) c.48877A>G (p.Thr16293Ala) c.43954A>G (p.Thr14652Ala) n.1385T>C c.47974A>G (p.Thr15992Ala) c.21868A>G (p.Thr7290Ala) c.21727A>G (p.Thr7243Ala) c.47770A>G (p.Thr15924Ala) c.43168A>G (p.Thr14390Ala) c.43165A>G (p.Thr14389Ala) c.40207A>G (p.Thr13403Ala) c.21823A>G (p.Thr7275Ala) c.43318A>G (p.Thr14440Ala) c.43315A>G (p.Thr14439Ala) c.42748A>G (p.Thr14250Ala) c.40090A>G (p.Thr13364Ala) c.40009A>G (p.Thr13337Ala) c.21772A>G (p.Thr7258Ala) c.11626A>G (p.Thr3876Ala) | |
| 2 | g.178614637T>G | CA349607612 | TTN,TTN-AS1 | c.41173A>C (p.Thr13725Pro) c.22258A>C (p.Thr7420Pro) c.22057A>C (p.Thr7353Pro) c.21682A>C (p.Thr7228Pro) c.48877A>C (p.Thr16293Pro) c.43954A>C (p.Thr14652Pro) n.1385T>G c.47974A>C (p.Thr15992Pro) c.21868A>C (p.Thr7290Pro) c.21727A>C (p.Thr7243Pro) c.47770A>C (p.Thr15924Pro) c.43168A>C (p.Thr14390Pro) c.43165A>C (p.Thr14389Pro) c.40207A>C (p.Thr13403Pro) c.21823A>C (p.Thr7275Pro) c.43318A>C (p.Thr14440Pro) c.43315A>C (p.Thr14439Pro) c.42748A>C (p.Thr14250Pro) c.40090A>C (p.Thr13364Pro) c.40009A>C (p.Thr13337Pro) c.21772A>C (p.Thr7258Pro) c.11626A>C (p.Thr3876Pro) | |
| 2 | g.178614638C>A | CA349607618 | TTN,TTN-AS1 | c.41172G>T (p.Trp13724Cys) c.22257G>T (p.Trp7419Cys) c.22056G>T (p.Trp7352Cys) c.21681G>T (p.Trp7227Cys) c.48876G>T (p.Trp16292Cys) c.43953G>T (p.Trp14651Cys) n.1386C>A c.47973G>T (p.Trp15991Cys) c.21867G>T (p.Trp7289Cys) c.21726G>T (p.Trp7242Cys) c.47769G>T (p.Trp15923Cys) c.43167G>T (p.Trp14389Cys) c.43164G>T (p.Trp14388Cys) c.40206G>T (p.Trp13402Cys) c.21822G>T (p.Trp7274Cys) c.43317G>T (p.Trp14439Cys) c.43314G>T (p.Trp14438Cys) c.42747G>T (p.Trp14249Cys) c.40089G>T (p.Trp13363Cys) c.40008G>T (p.Trp13336Cys) c.21771G>T (p.Trp7257Cys) c.11625G>T (p.Trp3875Cys) | |
| 2 | g.178614638C>G | CA349607619 | TTN,TTN-AS1 | c.41172G>C (p.Trp13724Cys) c.22257G>C (p.Trp7419Cys) c.22056G>C (p.Trp7352Cys) c.21681G>C (p.Trp7227Cys) c.48876G>C (p.Trp16292Cys) c.43953G>C (p.Trp14651Cys) n.1386C>G c.47973G>C (p.Trp15991Cys) c.21867G>C (p.Trp7289Cys) c.21726G>C (p.Trp7242Cys) c.47769G>C (p.Trp15923Cys) c.43167G>C (p.Trp14389Cys) c.43164G>C (p.Trp14388Cys) c.40206G>C (p.Trp13402Cys) c.21822G>C (p.Trp7274Cys) c.43317G>C (p.Trp14439Cys) c.43314G>C (p.Trp14438Cys) c.42747G>C (p.Trp14249Cys) c.40089G>C (p.Trp13363Cys) c.40008G>C (p.Trp13336Cys) c.21771G>C (p.Trp7257Cys) c.11625G>C (p.Trp3875Cys) | |
| 2 | g.178614638C>T | CA349607621 | TTN,TTN-AS1 | c.41172G>A (p.Trp13724Ter) c.22257G>A (p.Trp7419Ter) c.22056G>A (p.Trp7352Ter) c.21681G>A (p.Trp7227Ter) c.48876G>A (p.Trp16292Ter) c.43953G>A (p.Trp14651Ter) n.1386C>T c.47973G>A (p.Trp15991Ter) c.21867G>A (p.Trp7289Ter) c.21726G>A (p.Trp7242Ter) c.47769G>A (p.Trp15923Ter) c.43167G>A (p.Trp14389Ter) c.43164G>A (p.Trp14388Ter) c.40206G>A (p.Trp13402Ter) c.21822G>A (p.Trp7274Ter) c.43317G>A (p.Trp14439Ter) c.43314G>A (p.Trp14438Ter) c.42747G>A (p.Trp14249Ter) c.40089G>A (p.Trp13363Ter) c.40008G>A (p.Trp13336Ter) c.21771G>A (p.Trp7257Ter) c.11625G>A (p.Trp3875Ter) | |
| 2 | g.178614639C>A | CA349607623 | TTN,TTN-AS1 | c.41171G>T (p.Trp13724Leu) c.22256G>T (p.Trp7419Leu) c.22055G>T (p.Trp7352Leu) c.21680G>T (p.Trp7227Leu) c.48875G>T (p.Trp16292Leu) c.43952G>T (p.Trp14651Leu) n.1387C>A c.47972G>T (p.Trp15991Leu) c.21866G>T (p.Trp7289Leu) c.21725G>T (p.Trp7242Leu) c.47768G>T (p.Trp15923Leu) c.43166G>T (p.Trp14389Leu) c.43163G>T (p.Trp14388Leu) c.40205G>T (p.Trp13402Leu) c.21821G>T (p.Trp7274Leu) c.43316G>T (p.Trp14439Leu) c.43313G>T (p.Trp14438Leu) c.42746G>T (p.Trp14249Leu) c.40088G>T (p.Trp13363Leu) c.40007G>T (p.Trp13336Leu) c.21770G>T (p.Trp7257Leu) c.11624G>T (p.Trp3875Leu) | |
| 2 | g.178614639C>G | CA349607625 | TTN,TTN-AS1 | c.41171G>C (p.Trp13724Ser) c.22256G>C (p.Trp7419Ser) c.22055G>C (p.Trp7352Ser) c.21680G>C (p.Trp7227Ser) c.48875G>C (p.Trp16292Ser) c.43952G>C (p.Trp14651Ser) n.1387C>G c.47972G>C (p.Trp15991Ser) c.21866G>C (p.Trp7289Ser) c.21725G>C (p.Trp7242Ser) c.47768G>C (p.Trp15923Ser) c.43166G>C (p.Trp14389Ser) c.43163G>C (p.Trp14388Ser) c.40205G>C (p.Trp13402Ser) c.21821G>C (p.Trp7274Ser) c.43316G>C (p.Trp14439Ser) c.43313G>C (p.Trp14438Ser) c.42746G>C (p.Trp14249Ser) c.40088G>C (p.Trp13363Ser) c.40007G>C (p.Trp13336Ser) c.21770G>C (p.Trp7257Ser) c.11624G>C (p.Trp3875Ser) | |
| 2 | g.178614639C>T | CA349607627 | TTN,TTN-AS1 | c.41171G>A (p.Trp13724Ter) c.22256G>A (p.Trp7419Ter) c.22055G>A (p.Trp7352Ter) c.21680G>A (p.Trp7227Ter) c.48875G>A (p.Trp16292Ter) c.43952G>A (p.Trp14651Ter) n.1387C>T c.47972G>A (p.Trp15991Ter) c.21866G>A (p.Trp7289Ter) c.21725G>A (p.Trp7242Ter) c.47768G>A (p.Trp15923Ter) c.43166G>A (p.Trp14389Ter) c.43163G>A (p.Trp14388Ter) c.40205G>A (p.Trp13402Ter) c.21821G>A (p.Trp7274Ter) c.43316G>A (p.Trp14439Ter) c.43313G>A (p.Trp14438Ter) c.42746G>A (p.Trp14249Ter) c.40088G>A (p.Trp13363Ter) c.40007G>A (p.Trp13336Ter) c.21770G>A (p.Trp7257Ter) c.11624G>A (p.Trp3875Ter) | gnomAD v4 |
| 2 | g.178614640A>C | CA349607630 | TTN,TTN-AS1 | c.41170T>G (p.Trp13724Gly) c.22255T>G (p.Trp7419Gly) c.22054T>G (p.Trp7352Gly) c.21679T>G (p.Trp7227Gly) c.48874T>G (p.Trp16292Gly) c.43951T>G (p.Trp14651Gly) n.1388A>C c.47971T>G (p.Trp15991Gly) c.21865T>G (p.Trp7289Gly) c.21724T>G (p.Trp7242Gly) c.47767T>G (p.Trp15923Gly) c.43165T>G (p.Trp14389Gly) c.43162T>G (p.Trp14388Gly) c.40204T>G (p.Trp13402Gly) c.21820T>G (p.Trp7274Gly) c.43315T>G (p.Trp14439Gly) c.43312T>G (p.Trp14438Gly) c.42745T>G (p.Trp14249Gly) c.40087T>G (p.Trp13363Gly) c.40006T>G (p.Trp13336Gly) c.21769T>G (p.Trp7257Gly) c.11623T>G (p.Trp3875Gly) | |
| 2 | g.178614640A>G | CA349607631 | TTN,TTN-AS1 | c.41170T>C (p.Trp13724Arg) c.22255T>C (p.Trp7419Arg) c.22054T>C (p.Trp7352Arg) c.21679T>C (p.Trp7227Arg) c.48874T>C (p.Trp16292Arg) c.43951T>C (p.Trp14651Arg) n.1388A>G c.47971T>C (p.Trp15991Arg) c.21865T>C (p.Trp7289Arg) c.21724T>C (p.Trp7242Arg) c.47767T>C (p.Trp15923Arg) c.43165T>C (p.Trp14389Arg) c.43162T>C (p.Trp14388Arg) c.40204T>C (p.Trp13402Arg) c.21820T>C (p.Trp7274Arg) c.43315T>C (p.Trp14439Arg) c.43312T>C (p.Trp14438Arg) c.42745T>C (p.Trp14249Arg) c.40087T>C (p.Trp13363Arg) c.40006T>C (p.Trp13336Arg) c.21769T>C (p.Trp7257Arg) c.11623T>C (p.Trp3875Arg) | |
| 2 | g.178614640A>T | CA349607634 | TTN,TTN-AS1 | c.41170T>A (p.Trp13724Arg) c.22255T>A (p.Trp7419Arg) c.22054T>A (p.Trp7352Arg) c.21679T>A (p.Trp7227Arg) c.48874T>A (p.Trp16292Arg) c.43951T>A (p.Trp14651Arg) n.1388A>T c.47971T>A (p.Trp15991Arg) c.21865T>A (p.Trp7289Arg) c.21724T>A (p.Trp7242Arg) c.47767T>A (p.Trp15923Arg) c.43165T>A (p.Trp14389Arg) c.43162T>A (p.Trp14388Arg) c.40204T>A (p.Trp13402Arg) c.21820T>A (p.Trp7274Arg) c.43315T>A (p.Trp14439Arg) c.43312T>A (p.Trp14438Arg) c.42745T>A (p.Trp14249Arg) c.40087T>A (p.Trp13363Arg) c.40006T>A (p.Trp13336Arg) c.21769T>A (p.Trp7257Arg) c.11623T>A (p.Trp3875Arg) | |
| 2 | g.178614641A>C | CA430273830 | TTN,TTN-AS1 | c.41169T>G (p.Thr13723=) c.22254T>G (p.Thr7418=) c.22053T>G (p.Thr7351=) c.21678T>G (p.Thr7226=) c.48873T>G (p.Thr16291=) c.43950T>G (p.Thr14650=) n.1389A>C c.47970T>G (p.Thr15990=) c.21864T>G (p.Thr7288=) c.21723T>G (p.Thr7241=) c.47766T>G (p.Thr15922=) c.43164T>G (p.Thr14388=) c.43161T>G (p.Thr14387=) c.40203T>G (p.Thr13401=) c.21819T>G (p.Thr7273=) c.43314T>G (p.Thr14438=) c.43311T>G (p.Thr14437=) c.42744T>G (p.Thr14248=) c.40086T>G (p.Thr13362=) c.40005T>G (p.Thr13335=) c.21768T>G (p.Thr7256=) c.11622T>G (p.Thr3874=) | |
| 2 | g.178614641A>G | CA430273831 | TTN,TTN-AS1 | c.41169T>C (p.Thr13723=) c.22254T>C (p.Thr7418=) c.22053T>C (p.Thr7351=) c.21678T>C (p.Thr7226=) c.48873T>C (p.Thr16291=) c.43950T>C (p.Thr14650=) n.1389A>G c.47970T>C (p.Thr15990=) c.21864T>C (p.Thr7288=) c.21723T>C (p.Thr7241=) c.47766T>C (p.Thr15922=) c.43164T>C (p.Thr14388=) c.43161T>C (p.Thr14387=) c.40203T>C (p.Thr13401=) c.21819T>C (p.Thr7273=) c.43314T>C (p.Thr14438=) c.43311T>C (p.Thr14437=) c.42744T>C (p.Thr14248=) c.40086T>C (p.Thr13362=) c.40005T>C (p.Thr13335=) c.21768T>C (p.Thr7256=) c.11622T>C (p.Thr3874=) | |
| 2 | g.178614641A>T | CA430273835 | TTN,TTN-AS1 | c.41169T>A (p.Thr13723=) c.22254T>A (p.Thr7418=) c.22053T>A (p.Thr7351=) c.21678T>A (p.Thr7226=) c.48873T>A (p.Thr16291=) c.43950T>A (p.Thr14650=) n.1389A>T c.47970T>A (p.Thr15990=) c.21864T>A (p.Thr7288=) c.21723T>A (p.Thr7241=) c.47766T>A (p.Thr15922=) c.43164T>A (p.Thr14388=) c.43161T>A (p.Thr14387=) c.40203T>A (p.Thr13401=) c.21819T>A (p.Thr7273=) c.43314T>A (p.Thr14438=) c.43311T>A (p.Thr14437=) c.42744T>A (p.Thr14248=) c.40086T>A (p.Thr13362=) c.40005T>A (p.Thr13335=) c.21768T>A (p.Thr7256=) c.11622T>A (p.Thr3874=) | |
| 2 | g.178614642G>A | CA349607636 | TTN,TTN-AS1 | c.41168C>T (p.Thr13723Ile) c.22253C>T (p.Thr7418Ile) c.22052C>T (p.Thr7351Ile) c.21677C>T (p.Thr7226Ile) c.48872C>T (p.Thr16291Ile) c.43949C>T (p.Thr14650Ile) n.1390G>A c.47969C>T (p.Thr15990Ile) c.21863C>T (p.Thr7288Ile) c.21722C>T (p.Thr7241Ile) c.47765C>T (p.Thr15922Ile) c.43163C>T (p.Thr14388Ile) c.43160C>T (p.Thr14387Ile) c.40202C>T (p.Thr13401Ile) c.21818C>T (p.Thr7273Ile) c.43313C>T (p.Thr14438Ile) c.43310C>T (p.Thr14437Ile) c.42743C>T (p.Thr14248Ile) c.40085C>T (p.Thr13362Ile) c.40004C>T (p.Thr13335Ile) c.21767C>T (p.Thr7256Ile) c.11621C>T (p.Thr3874Ile) | ClinVar |
| 2 | g.178614642G>C | CA349607638 | TTN,TTN-AS1 | c.41168C>G (p.Thr13723Ser) c.22253C>G (p.Thr7418Ser) c.22052C>G (p.Thr7351Ser) c.21677C>G (p.Thr7226Ser) c.48872C>G (p.Thr16291Ser) c.43949C>G (p.Thr14650Ser) n.1390G>C c.47969C>G (p.Thr15990Ser) c.21863C>G (p.Thr7288Ser) c.21722C>G (p.Thr7241Ser) c.47765C>G (p.Thr15922Ser) c.43163C>G (p.Thr14388Ser) c.43160C>G (p.Thr14387Ser) c.40202C>G (p.Thr13401Ser) c.21818C>G (p.Thr7273Ser) c.43313C>G (p.Thr14438Ser) c.43310C>G (p.Thr14437Ser) c.42743C>G (p.Thr14248Ser) c.40085C>G (p.Thr13362Ser) c.40004C>G (p.Thr13335Ser) c.21767C>G (p.Thr7256Ser) c.11621C>G (p.Thr3874Ser) | |
| 2 | g.178614642G>T | CA349607640 | TTN,TTN-AS1 | c.41168C>A (p.Thr13723Asn) c.22253C>A (p.Thr7418Asn) c.22052C>A (p.Thr7351Asn) c.21677C>A (p.Thr7226Asn) c.48872C>A (p.Thr16291Asn) c.43949C>A (p.Thr14650Asn) n.1390G>T c.47969C>A (p.Thr15990Asn) c.21863C>A (p.Thr7288Asn) c.21722C>A (p.Thr7241Asn) c.47765C>A (p.Thr15922Asn) c.43163C>A (p.Thr14388Asn) c.43160C>A (p.Thr14387Asn) c.40202C>A (p.Thr13401Asn) c.21818C>A (p.Thr7273Asn) c.43313C>A (p.Thr14438Asn) c.43310C>A (p.Thr14437Asn) c.42743C>A (p.Thr14248Asn) c.40085C>A (p.Thr13362Asn) c.40004C>A (p.Thr13335Asn) c.21767C>A (p.Thr7256Asn) c.11621C>A (p.Thr3874Asn) | |
| 2 | g.178614643T>A | CA349607644 | TTN,TTN-AS1 | c.41167A>T (p.Thr13723Ser) c.22252A>T (p.Thr7418Ser) c.22051A>T (p.Thr7351Ser) c.21676A>T (p.Thr7226Ser) c.48871A>T (p.Thr16291Ser) c.43948A>T (p.Thr14650Ser) n.1391T>A c.47968A>T (p.Thr15990Ser) c.21862A>T (p.Thr7288Ser) c.21721A>T (p.Thr7241Ser) c.47764A>T (p.Thr15922Ser) c.43162A>T (p.Thr14388Ser) c.43159A>T (p.Thr14387Ser) c.40201A>T (p.Thr13401Ser) c.21817A>T (p.Thr7273Ser) c.43312A>T (p.Thr14438Ser) c.43309A>T (p.Thr14437Ser) c.42742A>T (p.Thr14248Ser) c.40084A>T (p.Thr13362Ser) c.40003A>T (p.Thr13335Ser) c.21766A>T (p.Thr7256Ser) c.11620A>T (p.Thr3874Ser) | |
| 2 | g.178614643T>C | CA349607642 | TTN,TTN-AS1 | c.41167A>G (p.Thr13723Ala) c.22252A>G (p.Thr7418Ala) c.22051A>G (p.Thr7351Ala) c.21676A>G (p.Thr7226Ala) c.48871A>G (p.Thr16291Ala) c.43948A>G (p.Thr14650Ala) n.1391T>C c.47968A>G (p.Thr15990Ala) c.21862A>G (p.Thr7288Ala) c.21721A>G (p.Thr7241Ala) c.47764A>G (p.Thr15922Ala) c.43162A>G (p.Thr14388Ala) c.43159A>G (p.Thr14387Ala) c.40201A>G (p.Thr13401Ala) c.21817A>G (p.Thr7273Ala) c.43312A>G (p.Thr14438Ala) c.43309A>G (p.Thr14437Ala) c.42742A>G (p.Thr14248Ala) c.40084A>G (p.Thr13362Ala) c.40003A>G (p.Thr13335Ala) c.21766A>G (p.Thr7256Ala) c.11620A>G (p.Thr3874Ala) | |
| 2 | g.178614643T>G | CA349607641 | TTN,TTN-AS1 | c.41167A>C (p.Thr13723Pro) c.22252A>C (p.Thr7418Pro) c.22051A>C (p.Thr7351Pro) c.21676A>C (p.Thr7226Pro) c.48871A>C (p.Thr16291Pro) c.43948A>C (p.Thr14650Pro) n.1391T>G c.47968A>C (p.Thr15990Pro) c.21862A>C (p.Thr7288Pro) c.21721A>C (p.Thr7241Pro) c.47764A>C (p.Thr15922Pro) c.43162A>C (p.Thr14388Pro) c.43159A>C (p.Thr14387Pro) c.40201A>C (p.Thr13401Pro) c.21817A>C (p.Thr7273Pro) c.43312A>C (p.Thr14438Pro) c.43309A>C (p.Thr14437Pro) c.42742A>C (p.Thr14248Pro) c.40084A>C (p.Thr13362Pro) c.40003A>C (p.Thr13335Pro) c.21766A>C (p.Thr7256Pro) c.11620A>C (p.Thr3874Pro) | |
| 2 | g.178614644T>A | CA430273844 | TTN,TTN-AS1 | c.41166A>T (p.Ile13722=) c.22251A>T (p.Ile7417=) c.22050A>T (p.Ile7350=) c.21675A>T (p.Ile7225=) c.48870A>T (p.Ile16290=) c.43947A>T (p.Ile14649=) n.1392T>A c.47967A>T (p.Ile15989=) c.21861A>T (p.Ile7287=) c.21720A>T (p.Ile7240=) c.47763A>T (p.Ile15921=) c.43161A>T (p.Ile14387=) c.43158A>T (p.Ile14386=) c.40200A>T (p.Ile13400=) c.21816A>T (p.Ile7272=) c.43311A>T (p.Ile14437=) c.43308A>T (p.Ile14436=) c.42741A>T (p.Ile14247=) c.40083A>T (p.Ile13361=) c.40002A>T (p.Ile13334=) c.21765A>T (p.Ile7255=) c.11619A>T (p.Ile3873=) | |
| 2 | g.178614644T>C | CA349607646 | TTN,TTN-AS1 | c.41166A>G (p.Ile13722Met) c.22251A>G (p.Ile7417Met) c.22050A>G (p.Ile7350Met) c.21675A>G (p.Ile7225Met) c.48870A>G (p.Ile16290Met) c.43947A>G (p.Ile14649Met) n.1392T>C c.47967A>G (p.Ile15989Met) c.21861A>G (p.Ile7287Met) c.21720A>G (p.Ile7240Met) c.47763A>G (p.Ile15921Met) c.43161A>G (p.Ile14387Met) c.43158A>G (p.Ile14386Met) c.40200A>G (p.Ile13400Met) c.21816A>G (p.Ile7272Met) c.43311A>G (p.Ile14437Met) c.43308A>G (p.Ile14436Met) c.42741A>G (p.Ile14247Met) c.40083A>G (p.Ile13361Met) c.40002A>G (p.Ile13334Met) c.21765A>G (p.Ile7255Met) c.11619A>G (p.Ile3873Met) | |
| 2 | g.178614644T>G | CA430273854 | TTN,TTN-AS1 | c.41166A>C (p.Ile13722=) c.22251A>C (p.Ile7417=) c.22050A>C (p.Ile7350=) c.21675A>C (p.Ile7225=) c.48870A>C (p.Ile16290=) c.43947A>C (p.Ile14649=) n.1392T>G c.47967A>C (p.Ile15989=) c.21861A>C (p.Ile7287=) c.21720A>C (p.Ile7240=) c.47763A>C (p.Ile15921=) c.43161A>C (p.Ile14387=) c.43158A>C (p.Ile14386=) c.40200A>C (p.Ile13400=) c.21816A>C (p.Ile7272=) c.43311A>C (p.Ile14437=) c.43308A>C (p.Ile14436=) c.42741A>C (p.Ile14247=) c.40083A>C (p.Ile13361=) c.40002A>C (p.Ile13334=) c.21765A>C (p.Ile7255=) c.11619A>C (p.Ile3873=) | |
| 2 | g.178614645A>C | CA349607649 | TTN,TTN-AS1 | c.41165T>G (p.Ile13722Arg) c.22250T>G (p.Ile7417Arg) c.22049T>G (p.Ile7350Arg) c.21674T>G (p.Ile7225Arg) c.48869T>G (p.Ile16290Arg) c.43946T>G (p.Ile14649Arg) n.1393A>C c.47966T>G (p.Ile15989Arg) c.21860T>G (p.Ile7287Arg) c.21719T>G (p.Ile7240Arg) c.47762T>G (p.Ile15921Arg) c.43160T>G (p.Ile14387Arg) c.43157T>G (p.Ile14386Arg) c.40199T>G (p.Ile13400Arg) c.21815T>G (p.Ile7272Arg) c.43310T>G (p.Ile14437Arg) c.43307T>G (p.Ile14436Arg) c.42740T>G (p.Ile14247Arg) c.40082T>G (p.Ile13361Arg) c.40001T>G (p.Ile13334Arg) c.21764T>G (p.Ile7255Arg) c.11618T>G (p.Ile3873Arg) | |
| 2 | g.178614645A>G | CA349607650 | TTN,TTN-AS1 | c.41165T>C (p.Ile13722Thr) c.22250T>C (p.Ile7417Thr) c.22049T>C (p.Ile7350Thr) c.21674T>C (p.Ile7225Thr) c.48869T>C (p.Ile16290Thr) c.43946T>C (p.Ile14649Thr) n.1393A>G c.47966T>C (p.Ile15989Thr) c.21860T>C (p.Ile7287Thr) c.21719T>C (p.Ile7240Thr) c.47762T>C (p.Ile15921Thr) c.43160T>C (p.Ile14387Thr) c.43157T>C (p.Ile14386Thr) c.40199T>C (p.Ile13400Thr) c.21815T>C (p.Ile7272Thr) c.43310T>C (p.Ile14437Thr) c.43307T>C (p.Ile14436Thr) c.42740T>C (p.Ile14247Thr) c.40082T>C (p.Ile13361Thr) c.40001T>C (p.Ile13334Thr) c.21764T>C (p.Ile7255Thr) c.11618T>C (p.Ile3873Thr) | COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178614645A>T | CA349607652 | TTN,TTN-AS1 | c.41165T>A (p.Ile13722Lys) c.22250T>A (p.Ile7417Lys) c.22049T>A (p.Ile7350Lys) c.21674T>A (p.Ile7225Lys) c.48869T>A (p.Ile16290Lys) c.43946T>A (p.Ile14649Lys) n.1393A>T c.47966T>A (p.Ile15989Lys) c.21860T>A (p.Ile7287Lys) c.21719T>A (p.Ile7240Lys) c.47762T>A (p.Ile15921Lys) c.43160T>A (p.Ile14387Lys) c.43157T>A (p.Ile14386Lys) c.40199T>A (p.Ile13400Lys) c.21815T>A (p.Ile7272Lys) c.43310T>A (p.Ile14437Lys) c.43307T>A (p.Ile14436Lys) c.42740T>A (p.Ile14247Lys) c.40082T>A (p.Ile13361Lys) c.40001T>A (p.Ile13334Lys) c.21764T>A (p.Ile7255Lys) c.11618T>A (p.Ile3873Lys) | |
| 2 | g.178614646T>A | CA349607655 | TTN,TTN-AS1 | c.41164A>T (p.Ile13722Leu) c.22249A>T (p.Ile7417Leu) c.22048A>T (p.Ile7350Leu) c.21673A>T (p.Ile7225Leu) c.48868A>T (p.Ile16290Leu) c.43945A>T (p.Ile14649Leu) n.1394T>A c.47965A>T (p.Ile15989Leu) c.21859A>T (p.Ile7287Leu) c.21718A>T (p.Ile7240Leu) c.47761A>T (p.Ile15921Leu) c.43159A>T (p.Ile14387Leu) c.43156A>T (p.Ile14386Leu) c.40198A>T (p.Ile13400Leu) c.21814A>T (p.Ile7272Leu) c.43309A>T (p.Ile14437Leu) c.43306A>T (p.Ile14436Leu) c.42739A>T (p.Ile14247Leu) c.40081A>T (p.Ile13361Leu) c.40000A>T (p.Ile13334Leu) c.21763A>T (p.Ile7255Leu) c.11617A>T (p.Ile3873Leu) | |
| 2 | g.178614646T>C | CA1994730 | TTN,TTN-AS1 | c.41164A>G (p.Ile13722Val) c.22249A>G (p.Ile7417Val) c.22048A>G (p.Ile7350Val) c.21673A>G (p.Ile7225Val) c.48868A>G (p.Ile16290Val) c.43945A>G (p.Ile14649Val) n.1394T>C c.47965A>G (p.Ile15989Val) c.21859A>G (p.Ile7287Val) c.21718A>G (p.Ile7240Val) c.47761A>G (p.Ile15921Val) c.43159A>G (p.Ile14387Val) c.43156A>G (p.Ile14386Val) c.40198A>G (p.Ile13400Val) c.21814A>G (p.Ile7272Val) c.43309A>G (p.Ile14437Val) c.43306A>G (p.Ile14436Val) c.42739A>G (p.Ile14247Val) c.40081A>G (p.Ile13361Val) c.40000A>G (p.Ile13334Val) c.21763A>G (p.Ile7255Val) c.11617A>G (p.Ile3873Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.178614646T>G | CA349607657 | TTN,TTN-AS1 | c.41164A>C (p.Ile13722Leu) c.22249A>C (p.Ile7417Leu) c.22048A>C (p.Ile7350Leu) c.21673A>C (p.Ile7225Leu) c.48868A>C (p.Ile16290Leu) c.43945A>C (p.Ile14649Leu) n.1394T>G c.47965A>C (p.Ile15989Leu) c.21859A>C (p.Ile7287Leu) c.21718A>C (p.Ile7240Leu) c.47761A>C (p.Ile15921Leu) c.43159A>C (p.Ile14387Leu) c.43156A>C (p.Ile14386Leu) c.40198A>C (p.Ile13400Leu) c.21814A>C (p.Ile7272Leu) c.43309A>C (p.Ile14437Leu) c.43306A>C (p.Ile14436Leu) c.42739A>C (p.Ile14247Leu) c.40081A>C (p.Ile13361Leu) c.40000A>C (p.Ile13334Leu) c.21763A>C (p.Ile7255Leu) c.11617A>C (p.Ile3873Leu) | |
| 2 | g.178614646T= | CA1310549452 | TTN,TTN-AS1 | c.41164A= (p.Ile13722=) c.22249A= (p.Ile7417=) c.22048A= (p.Ile7350=) c.21673A= (p.Ile7225=) c.48868A= (p.Ile16290=) c.43945A= (p.Ile14649=) n.1394T= c.47965A= (p.Ile15989=) c.21859A= (p.Ile7287=) c.21718A= (p.Ile7240=) c.47761A= (p.Ile15921=) c.43159A= (p.Ile14387=) c.43156A= (p.Ile14386=) c.40198A= (p.Ile13400=) c.21814A= (p.Ile7272=) c.43309A= (p.Ile14437=) c.43306A= (p.Ile14436=) c.42739A= (p.Ile14247=) c.40081A= (p.Ile13361=) c.40000A= (p.Ile13334=) c.21763A= (p.Ile7255=) c.11617A= (p.Ile3873=) | |
| 2 | g.178614647T>A | CA349607660 | TTN,TTN-AS1 | c.41163A>T (p.Lys13721Asn) c.22248A>T (p.Lys7416Asn) c.22047A>T (p.Lys7349Asn) c.21672A>T (p.Lys7224Asn) c.48867A>T (p.Lys16289Asn) c.43944A>T (p.Lys14648Asn) n.1395T>A c.47964A>T (p.Lys15988Asn) c.21858A>T (p.Lys7286Asn) c.21717A>T (p.Lys7239Asn) c.47760A>T (p.Lys15920Asn) c.43158A>T (p.Lys14386Asn) c.43155A>T (p.Lys14385Asn) c.40197A>T (p.Lys13399Asn) c.21813A>T (p.Lys7271Asn) c.43308A>T (p.Lys14436Asn) c.43305A>T (p.Lys14435Asn) c.42738A>T (p.Lys14246Asn) c.40080A>T (p.Lys13360Asn) c.39999A>T (p.Lys13333Asn) c.21762A>T (p.Lys7254Asn) c.11616A>T (p.Lys3872Asn) | |
| 2 | g.178614647T>C | CA430273859 | TTN,TTN-AS1 | c.41163A>G (p.Lys13721=) c.22248A>G (p.Lys7416=) c.22047A>G (p.Lys7349=) c.21672A>G (p.Lys7224=) c.48867A>G (p.Lys16289=) c.43944A>G (p.Lys14648=) n.1395T>C c.47964A>G (p.Lys15988=) c.21858A>G (p.Lys7286=) c.21717A>G (p.Lys7239=) c.47760A>G (p.Lys15920=) c.43158A>G (p.Lys14386=) c.43155A>G (p.Lys14385=) c.40197A>G (p.Lys13399=) c.21813A>G (p.Lys7271=) c.43308A>G (p.Lys14436=) c.43305A>G (p.Lys14435=) c.42738A>G (p.Lys14246=) c.40080A>G (p.Lys13360=) c.39999A>G (p.Lys13333=) c.21762A>G (p.Lys7254=) c.11616A>G (p.Lys3872=) | |
| 2 | g.178614647T>G | CA349607662 | TTN,TTN-AS1 | c.41163A>C (p.Lys13721Asn) c.22248A>C (p.Lys7416Asn) c.22047A>C (p.Lys7349Asn) c.21672A>C (p.Lys7224Asn) c.48867A>C (p.Lys16289Asn) c.43944A>C (p.Lys14648Asn) n.1395T>G c.47964A>C (p.Lys15988Asn) c.21858A>C (p.Lys7286Asn) c.21717A>C (p.Lys7239Asn) c.47760A>C (p.Lys15920Asn) c.43158A>C (p.Lys14386Asn) c.43155A>C (p.Lys14385Asn) c.40197A>C (p.Lys13399Asn) c.21813A>C (p.Lys7271Asn) c.43308A>C (p.Lys14436Asn) c.43305A>C (p.Lys14435Asn) c.42738A>C (p.Lys14246Asn) c.40080A>C (p.Lys13360Asn) c.39999A>C (p.Lys13333Asn) c.21762A>C (p.Lys7254Asn) c.11616A>C (p.Lys3872Asn) | |
| 2 | g.178614648T>A | CA349607664 | TTN,TTN-AS1 | c.41162A>T (p.Lys13721Ile) c.22247A>T (p.Lys7416Ile) c.22046A>T (p.Lys7349Ile) c.21671A>T (p.Lys7224Ile) c.48866A>T (p.Lys16289Ile) c.43943A>T (p.Lys14648Ile) n.1396T>A c.47963A>T (p.Lys15988Ile) c.21857A>T (p.Lys7286Ile) c.21716A>T (p.Lys7239Ile) c.47759A>T (p.Lys15920Ile) c.43157A>T (p.Lys14386Ile) c.43154A>T (p.Lys14385Ile) c.40196A>T (p.Lys13399Ile) c.21812A>T (p.Lys7271Ile) c.43307A>T (p.Lys14436Ile) c.43304A>T (p.Lys14435Ile) c.42737A>T (p.Lys14246Ile) c.40079A>T (p.Lys13360Ile) c.39998A>T (p.Lys13333Ile) c.21761A>T (p.Lys7254Ile) c.11615A>T (p.Lys3872Ile) | |
| 2 | g.178614648T>C | CA349607666 | TTN,TTN-AS1 | c.41162A>G (p.Lys13721Arg) c.22247A>G (p.Lys7416Arg) c.22046A>G (p.Lys7349Arg) c.21671A>G (p.Lys7224Arg) c.48866A>G (p.Lys16289Arg) c.43943A>G (p.Lys14648Arg) n.1396T>C c.47963A>G (p.Lys15988Arg) c.21857A>G (p.Lys7286Arg) c.21716A>G (p.Lys7239Arg) c.47759A>G (p.Lys15920Arg) c.43157A>G (p.Lys14386Arg) c.43154A>G (p.Lys14385Arg) c.40196A>G (p.Lys13399Arg) c.21812A>G (p.Lys7271Arg) c.43307A>G (p.Lys14436Arg) c.43304A>G (p.Lys14435Arg) c.42737A>G (p.Lys14246Arg) c.40079A>G (p.Lys13360Arg) c.39998A>G (p.Lys13333Arg) c.21761A>G (p.Lys7254Arg) c.11615A>G (p.Lys3872Arg) | |
| 2 | g.178614648T>G | CA349607668 | TTN,TTN-AS1 | c.41162A>C (p.Lys13721Thr) c.22247A>C (p.Lys7416Thr) c.22046A>C (p.Lys7349Thr) c.21671A>C (p.Lys7224Thr) c.48866A>C (p.Lys16289Thr) c.43943A>C (p.Lys14648Thr) n.1396T>G c.47963A>C (p.Lys15988Thr) c.21857A>C (p.Lys7286Thr) c.21716A>C (p.Lys7239Thr) c.47759A>C (p.Lys15920Thr) c.43157A>C (p.Lys14386Thr) c.43154A>C (p.Lys14385Thr) c.40196A>C (p.Lys13399Thr) c.21812A>C (p.Lys7271Thr) c.43307A>C (p.Lys14436Thr) c.43304A>C (p.Lys14435Thr) c.42737A>C (p.Lys14246Thr) c.40079A>C (p.Lys13360Thr) c.39998A>C (p.Lys13333Thr) c.21761A>C (p.Lys7254Thr) c.11615A>C (p.Lys3872Thr) | gnomAD v4 |
| 2 | g.178614649T>A | CA349607674 | TTN,TTN-AS1 | c.41161A>T (p.Lys13721Ter) c.22246A>T (p.Lys7416Ter) c.22045A>T (p.Lys7349Ter) c.21670A>T (p.Lys7224Ter) c.48865A>T (p.Lys16289Ter) c.43942A>T (p.Lys14648Ter) n.1397T>A c.47962A>T (p.Lys15988Ter) c.21856A>T (p.Lys7286Ter) c.21715A>T (p.Lys7239Ter) c.47758A>T (p.Lys15920Ter) c.43156A>T (p.Lys14386Ter) c.43153A>T (p.Lys14385Ter) c.40195A>T (p.Lys13399Ter) c.21811A>T (p.Lys7271Ter) c.43306A>T (p.Lys14436Ter) c.43303A>T (p.Lys14435Ter) c.42736A>T (p.Lys14246Ter) c.40078A>T (p.Lys13360Ter) c.39997A>T (p.Lys13333Ter) c.21760A>T (p.Lys7254Ter) c.11614A>T (p.Lys3872Ter) | |
| 2 | g.178614649T>C | CA349607672 | TTN,TTN-AS1 | c.41161A>G (p.Lys13721Glu) c.22246A>G (p.Lys7416Glu) c.22045A>G (p.Lys7349Glu) c.21670A>G (p.Lys7224Glu) c.48865A>G (p.Lys16289Glu) c.43942A>G (p.Lys14648Glu) n.1397T>C c.47962A>G (p.Lys15988Glu) c.21856A>G (p.Lys7286Glu) c.21715A>G (p.Lys7239Glu) c.47758A>G (p.Lys15920Glu) c.43156A>G (p.Lys14386Glu) c.43153A>G (p.Lys14385Glu) c.40195A>G (p.Lys13399Glu) c.21811A>G (p.Lys7271Glu) c.43306A>G (p.Lys14436Glu) c.43303A>G (p.Lys14435Glu) c.42736A>G (p.Lys14246Glu) c.40078A>G (p.Lys13360Glu) c.39997A>G (p.Lys13333Glu) c.21760A>G (p.Lys7254Glu) c.11614A>G (p.Lys3872Glu) | dbSNP |
| 2 | g.178614649T>G | CA349607670 | TTN,TTN-AS1 | c.41161A>C (p.Lys13721Gln) c.22246A>C (p.Lys7416Gln) c.22045A>C (p.Lys7349Gln) c.21670A>C (p.Lys7224Gln) c.48865A>C (p.Lys16289Gln) c.43942A>C (p.Lys14648Gln) n.1397T>G c.47962A>C (p.Lys15988Gln) c.21856A>C (p.Lys7286Gln) c.21715A>C (p.Lys7239Gln) c.47758A>C (p.Lys15920Gln) c.43156A>C (p.Lys14386Gln) c.43153A>C (p.Lys14385Gln) c.40195A>C (p.Lys13399Gln) c.21811A>C (p.Lys7271Gln) c.43306A>C (p.Lys14436Gln) c.43303A>C (p.Lys14435Gln) c.42736A>C (p.Lys14246Gln) c.40078A>C (p.Lys13360Gln) c.39997A>C (p.Lys13333Gln) c.21760A>C (p.Lys7254Gln) c.11614A>C (p.Lys3872Gln) | |
| 2 | g.178614649T= | CA1310549453 | TTN,TTN-AS1 | c.41161A= (p.Lys13721=) c.22246A= (p.Lys7416=) c.22045A= (p.Lys7349=) c.21670A= (p.Lys7224=) c.48865A= (p.Lys16289=) c.43942A= (p.Lys14648=) n.1397T= c.47962A= (p.Lys15988=) c.21856A= (p.Lys7286=) c.21715A= (p.Lys7239=) c.47758A= (p.Lys15920=) c.43156A= (p.Lys14386=) c.43153A= (p.Lys14385=) c.40195A= (p.Lys13399=) c.21811A= (p.Lys7271=) c.43306A= (p.Lys14436=) c.43303A= (p.Lys14435=) c.42736A= (p.Lys14246=) c.40078A= (p.Lys13360=) c.39997A= (p.Lys13333=) c.21760A= (p.Lys7254=) c.11614A= (p.Lys3872=) | |
| 2 | g.178614650A>C | CA430273878 | TTN,TTN-AS1 | c.41160T>G (p.Pro13720=) c.22245T>G (p.Pro7415=) c.22044T>G (p.Pro7348=) c.21669T>G (p.Pro7223=) c.48864T>G (p.Pro16288=) c.43941T>G (p.Pro14647=) n.1398A>C c.47961T>G (p.Pro15987=) c.21855T>G (p.Pro7285=) c.21714T>G (p.Pro7238=) c.47757T>G (p.Pro15919=) c.43155T>G (p.Pro14385=) c.43152T>G (p.Pro14384=) c.40194T>G (p.Pro13398=) c.21810T>G (p.Pro7270=) c.43305T>G (p.Pro14435=) c.43302T>G (p.Pro14434=) c.42735T>G (p.Pro14245=) c.40077T>G (p.Pro13359=) c.39996T>G (p.Pro13332=) c.21759T>G (p.Pro7253=) c.11613T>G (p.Pro3871=) | |
| 2 | g.178614650A>G | CA430273873 | TTN,TTN-AS1 | c.41160T>C (p.Pro13720=) c.22245T>C (p.Pro7415=) c.22044T>C (p.Pro7348=) c.21669T>C (p.Pro7223=) c.48864T>C (p.Pro16288=) c.43941T>C (p.Pro14647=) n.1398A>G c.47961T>C (p.Pro15987=) c.21855T>C (p.Pro7285=) c.21714T>C (p.Pro7238=) c.47757T>C (p.Pro15919=) c.43155T>C (p.Pro14385=) c.43152T>C (p.Pro14384=) c.40194T>C (p.Pro13398=) c.21810T>C (p.Pro7270=) c.43305T>C (p.Pro14435=) c.43302T>C (p.Pro14434=) c.42735T>C (p.Pro14245=) c.40077T>C (p.Pro13359=) c.39996T>C (p.Pro13332=) c.21759T>C (p.Pro7253=) c.11613T>C (p.Pro3871=) | |
| 2 | g.178614650A>T | CA430273877 | TTN,TTN-AS1 | c.41160T>A (p.Pro13720=) c.22245T>A (p.Pro7415=) c.22044T>A (p.Pro7348=) c.21669T>A (p.Pro7223=) c.48864T>A (p.Pro16288=) c.43941T>A (p.Pro14647=) n.1398A>T c.47961T>A (p.Pro15987=) c.21855T>A (p.Pro7285=) c.21714T>A (p.Pro7238=) c.47757T>A (p.Pro15919=) c.43155T>A (p.Pro14385=) c.43152T>A (p.Pro14384=) c.40194T>A (p.Pro13398=) c.21810T>A (p.Pro7270=) c.43305T>A (p.Pro14435=) c.43302T>A (p.Pro14434=) c.42735T>A (p.Pro14245=) c.40077T>A (p.Pro13359=) c.39996T>A (p.Pro13332=) c.21759T>A (p.Pro7253=) c.11613T>A (p.Pro3871=) | ClinVar dbSNP |
| 2 | g.178614650_178614651delinsAG | CA1310549454 | TTN,TTN-AS1 | c.41159_41160delinsCT (p.Pro13720=) c.22244_22245delinsCT (p.Pro7415=) c.22043_22044delinsCT (p.Pro7348=) c.21668_21669delinsCT (p.Pro7223=) c.48863_48864delinsCT (p.Pro16288=) c.43940_43941delinsCT (p.Pro14647=) n.1398_1399delinsAG c.47960_47961delinsCT (p.Pro15987=) c.21854_21855delinsCT (p.Pro7285=) c.21713_21714delinsCT (p.Pro7238=) c.47756_47757delinsCT (p.Pro15919=) c.43154_43155delinsCT (p.Pro14385=) c.43151_43152delinsCT (p.Pro14384=) c.40193_40194delinsCT (p.Pro13398=) c.21809_21810delinsCT (p.Pro7270=) c.43304_43305delinsCT (p.Pro14435=) c.43301_43302delinsCT (p.Pro14434=) c.42734_42735delinsCT (p.Pro14245=) c.40076_40077delinsCT (p.Pro13359=) c.39995_39996delinsCT (p.Pro13332=) c.21758_21759delinsCT (p.Pro7253=) c.11612_11613delinsCT (p.Pro3871=) | |
| 2 | g.178614651G>A | CA349607676 | TTN,TTN-AS1 | c.41159C>T (p.Pro13720Leu) c.22244C>T (p.Pro7415Leu) c.22043C>T (p.Pro7348Leu) c.21668C>T (p.Pro7223Leu) c.48863C>T (p.Pro16288Leu) c.43940C>T (p.Pro14647Leu) n.1399G>A c.47960C>T (p.Pro15987Leu) c.21854C>T (p.Pro7285Leu) c.21713C>T (p.Pro7238Leu) c.47756C>T (p.Pro15919Leu) c.43154C>T (p.Pro14385Leu) c.43151C>T (p.Pro14384Leu) c.40193C>T (p.Pro13398Leu) c.21809C>T (p.Pro7270Leu) c.43304C>T (p.Pro14435Leu) c.43301C>T (p.Pro14434Leu) c.42734C>T (p.Pro14245Leu) c.40076C>T (p.Pro13359Leu) c.39995C>T (p.Pro13332Leu) c.21758C>T (p.Pro7253Leu) c.11612C>T (p.Pro3871Leu) | gnomAD v4 |