Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.178567388C>A | CA349601313 | TTN,TTN-AS1 | c.71040G>T (p.Lys23680Asn) c.52125G>T (p.Lys17375Asn) c.51924G>T (p.Lys17308Asn) c.51549G>T (p.Lys17183Asn) c.78744G>T (p.Lys26248Asn) c.73821G>T (p.Lys24607Asn) n.447-3912C>A n.2044-15184C>A c.77841G>T (p.Lys25947Asn) c.51735G>T (p.Lys17245Asn) c.51594G>T (p.Lys17198Asn) c.77637G>T (p.Lys25879Asn) c.73035G>T (p.Lys24345Asn) c.73032G>T (p.Lys24344Asn) c.70074G>T (p.Lys23358Asn) c.51690G>T (p.Lys17230Asn) c.73185G>T (p.Lys24395Asn) c.73182G>T (p.Lys24394Asn) c.72615G>T (p.Lys24205Asn) c.69957G>T (p.Lys23319Asn) c.69876G>T (p.Lys23292Asn) c.51639G>T (p.Lys17213Asn) c.41493G>T (p.Lys13831Asn) | |
2 | g.178567388C>G | CA349601315 | TTN,TTN-AS1 | c.71040G>C (p.Lys23680Asn) c.52125G>C (p.Lys17375Asn) c.51924G>C (p.Lys17308Asn) c.51549G>C (p.Lys17183Asn) c.78744G>C (p.Lys26248Asn) c.73821G>C (p.Lys24607Asn) n.447-3912C>G n.2044-15184C>G c.77841G>C (p.Lys25947Asn) c.51735G>C (p.Lys17245Asn) c.51594G>C (p.Lys17198Asn) c.77637G>C (p.Lys25879Asn) c.73035G>C (p.Lys24345Asn) c.73032G>C (p.Lys24344Asn) c.70074G>C (p.Lys23358Asn) c.51690G>C (p.Lys17230Asn) c.73185G>C (p.Lys24395Asn) c.73182G>C (p.Lys24394Asn) c.72615G>C (p.Lys24205Asn) c.69957G>C (p.Lys23319Asn) c.69876G>C (p.Lys23292Asn) c.51639G>C (p.Lys17213Asn) c.41493G>C (p.Lys13831Asn) | |
2 | g.178567388C>T | CA430252714 | TTN,TTN-AS1 | c.71040G>A (p.Lys23680=) c.52125G>A (p.Lys17375=) c.51924G>A (p.Lys17308=) c.51549G>A (p.Lys17183=) c.78744G>A (p.Lys26248=) c.73821G>A (p.Lys24607=) n.447-3912C>T n.2044-15184C>T c.77841G>A (p.Lys25947=) c.51735G>A (p.Lys17245=) c.51594G>A (p.Lys17198=) c.77637G>A (p.Lys25879=) c.73035G>A (p.Lys24345=) c.73032G>A (p.Lys24344=) c.70074G>A (p.Lys23358=) c.51690G>A (p.Lys17230=) c.73185G>A (p.Lys24395=) c.73182G>A (p.Lys24394=) c.72615G>A (p.Lys24205=) c.69957G>A (p.Lys23319=) c.69876G>A (p.Lys23292=) c.51639G>A (p.Lys17213=) c.41493G>A (p.Lys13831=) | |
2 | g.178567389T>A | CA349601317 | TTN,TTN-AS1 | c.71039A>T (p.Lys23680Met) c.52124A>T (p.Lys17375Met) c.51923A>T (p.Lys17308Met) c.51548A>T (p.Lys17183Met) c.78743A>T (p.Lys26248Met) c.73820A>T (p.Lys24607Met) n.447-3911T>A n.2044-15183T>A c.77840A>T (p.Lys25947Met) c.51734A>T (p.Lys17245Met) c.51593A>T (p.Lys17198Met) c.77636A>T (p.Lys25879Met) c.73034A>T (p.Lys24345Met) c.73031A>T (p.Lys24344Met) c.70073A>T (p.Lys23358Met) c.51689A>T (p.Lys17230Met) c.73184A>T (p.Lys24395Met) c.73181A>T (p.Lys24394Met) c.72614A>T (p.Lys24205Met) c.69956A>T (p.Lys23319Met) c.69875A>T (p.Lys23292Met) c.51638A>T (p.Lys17213Met) c.41492A>T (p.Lys13831Met) | |
2 | g.178567389T>C | CA349601319 | TTN,TTN-AS1 | c.71039A>G (p.Lys23680Arg) c.52124A>G (p.Lys17375Arg) c.51923A>G (p.Lys17308Arg) c.51548A>G (p.Lys17183Arg) c.78743A>G (p.Lys26248Arg) c.73820A>G (p.Lys24607Arg) n.447-3911T>C n.2044-15183T>C c.77840A>G (p.Lys25947Arg) c.51734A>G (p.Lys17245Arg) c.51593A>G (p.Lys17198Arg) c.77636A>G (p.Lys25879Arg) c.73034A>G (p.Lys24345Arg) c.73031A>G (p.Lys24344Arg) c.70073A>G (p.Lys23358Arg) c.51689A>G (p.Lys17230Arg) c.73184A>G (p.Lys24395Arg) c.73181A>G (p.Lys24394Arg) c.72614A>G (p.Lys24205Arg) c.69956A>G (p.Lys23319Arg) c.69875A>G (p.Lys23292Arg) c.51638A>G (p.Lys17213Arg) c.41492A>G (p.Lys13831Arg) | |
2 | g.178567389T>G | CA349601321 | TTN,TTN-AS1 | c.71039A>C (p.Lys23680Thr) c.52124A>C (p.Lys17375Thr) c.51923A>C (p.Lys17308Thr) c.51548A>C (p.Lys17183Thr) c.78743A>C (p.Lys26248Thr) c.73820A>C (p.Lys24607Thr) n.447-3911T>G n.2044-15183T>G c.77840A>C (p.Lys25947Thr) c.51734A>C (p.Lys17245Thr) c.51593A>C (p.Lys17198Thr) c.77636A>C (p.Lys25879Thr) c.73034A>C (p.Lys24345Thr) c.73031A>C (p.Lys24344Thr) c.70073A>C (p.Lys23358Thr) c.51689A>C (p.Lys17230Thr) c.73184A>C (p.Lys24395Thr) c.73181A>C (p.Lys24394Thr) c.72614A>C (p.Lys24205Thr) c.69956A>C (p.Lys23319Thr) c.69875A>C (p.Lys23292Thr) c.51638A>C (p.Lys17213Thr) c.41492A>C (p.Lys13831Thr) | |
2 | g.178567390T>A | CA349601323 | TTN,TTN-AS1 | c.71038A>T (p.Lys23680Ter) c.52123A>T (p.Lys17375Ter) c.51922A>T (p.Lys17308Ter) c.51547A>T (p.Lys17183Ter) c.78742A>T (p.Lys26248Ter) c.73819A>T (p.Lys24607Ter) n.447-3910T>A n.2044-15182T>A c.77839A>T (p.Lys25947Ter) c.51733A>T (p.Lys17245Ter) c.51592A>T (p.Lys17198Ter) c.77635A>T (p.Lys25879Ter) c.73033A>T (p.Lys24345Ter) c.73030A>T (p.Lys24344Ter) c.70072A>T (p.Lys23358Ter) c.51688A>T (p.Lys17230Ter) c.73183A>T (p.Lys24395Ter) c.73180A>T (p.Lys24394Ter) c.72613A>T (p.Lys24205Ter) c.69955A>T (p.Lys23319Ter) c.69874A>T (p.Lys23292Ter) c.51637A>T (p.Lys17213Ter) c.41491A>T (p.Lys13831Ter) | |
2 | g.178567390T>C | CA349601324 | TTN,TTN-AS1 | c.71038A>G (p.Lys23680Glu) c.52123A>G (p.Lys17375Glu) c.51922A>G (p.Lys17308Glu) c.51547A>G (p.Lys17183Glu) c.78742A>G (p.Lys26248Glu) c.73819A>G (p.Lys24607Glu) n.447-3910T>C n.2044-15182T>C c.77839A>G (p.Lys25947Glu) c.51733A>G (p.Lys17245Glu) c.51592A>G (p.Lys17198Glu) c.77635A>G (p.Lys25879Glu) c.73033A>G (p.Lys24345Glu) c.73030A>G (p.Lys24344Glu) c.70072A>G (p.Lys23358Glu) c.51688A>G (p.Lys17230Glu) c.73183A>G (p.Lys24395Glu) c.73180A>G (p.Lys24394Glu) c.72613A>G (p.Lys24205Glu) c.69955A>G (p.Lys23319Glu) c.69874A>G (p.Lys23292Glu) c.51637A>G (p.Lys17213Glu) c.41491A>G (p.Lys13831Glu) | |
2 | g.178567390T>G | CA349601326 | TTN,TTN-AS1 | c.71038A>C (p.Lys23680Gln) c.52123A>C (p.Lys17375Gln) c.51922A>C (p.Lys17308Gln) c.51547A>C (p.Lys17183Gln) c.78742A>C (p.Lys26248Gln) c.73819A>C (p.Lys24607Gln) n.447-3910T>G n.2044-15182T>G c.77839A>C (p.Lys25947Gln) c.51733A>C (p.Lys17245Gln) c.51592A>C (p.Lys17198Gln) c.77635A>C (p.Lys25879Gln) c.73033A>C (p.Lys24345Gln) c.73030A>C (p.Lys24344Gln) c.70072A>C (p.Lys23358Gln) c.51688A>C (p.Lys17230Gln) c.73183A>C (p.Lys24395Gln) c.73180A>C (p.Lys24394Gln) c.72613A>C (p.Lys24205Gln) c.69955A>C (p.Lys23319Gln) c.69874A>C (p.Lys23292Gln) c.51637A>C (p.Lys17213Gln) c.41491A>C (p.Lys13831Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.178567390T= | CA1310529895 | TTN,TTN-AS1 | c.71038A= (p.Lys23680=) c.52123A= (p.Lys17375=) c.51922A= (p.Lys17308=) c.51547A= (p.Lys17183=) c.78742A= (p.Lys26248=) c.73819A= (p.Lys24607=) n.447-3910T= n.2044-15182T= c.77839A= (p.Lys25947=) c.51733A= (p.Lys17245=) c.51592A= (p.Lys17198=) c.77635A= (p.Lys25879=) c.73033A= (p.Lys24345=) c.73030A= (p.Lys24344=) c.70072A= (p.Lys23358=) c.51688A= (p.Lys17230=) c.73183A= (p.Lys24395=) c.73180A= (p.Lys24394=) c.72613A= (p.Lys24205=) c.69955A= (p.Lys23319=) c.69874A= (p.Lys23292=) c.51637A= (p.Lys17213=) c.41491A= (p.Lys13831=) | |
2 | g.178567391G>A | CA430252719 | TTN,TTN-AS1 | c.71037C>T (p.Phe23679=) c.52122C>T (p.Phe17374=) c.51921C>T (p.Phe17307=) c.51546C>T (p.Phe17182=) c.78741C>T (p.Phe26247=) c.73818C>T (p.Phe24606=) n.447-3909G>A n.2044-15181G>A c.77838C>T (p.Phe25946=) c.51732C>T (p.Phe17244=) c.51591C>T (p.Phe17197=) c.77634C>T (p.Phe25878=) c.73032C>T (p.Phe24344=) c.73029C>T (p.Phe24343=) c.70071C>T (p.Phe23357=) c.51687C>T (p.Phe17229=) c.73182C>T (p.Phe24394=) c.73179C>T (p.Phe24393=) c.72612C>T (p.Phe24204=) c.69954C>T (p.Phe23318=) c.69873C>T (p.Phe23291=) c.51636C>T (p.Phe17212=) c.41490C>T (p.Phe13830=) | |
2 | g.178567391G>C | CA349601328 | TTN,TTN-AS1 | c.71037C>G (p.Phe23679Leu) c.52122C>G (p.Phe17374Leu) c.51921C>G (p.Phe17307Leu) c.51546C>G (p.Phe17182Leu) c.78741C>G (p.Phe26247Leu) c.73818C>G (p.Phe24606Leu) n.447-3909G>C n.2044-15181G>C c.77838C>G (p.Phe25946Leu) c.51732C>G (p.Phe17244Leu) c.51591C>G (p.Phe17197Leu) c.77634C>G (p.Phe25878Leu) c.73032C>G (p.Phe24344Leu) c.73029C>G (p.Phe24343Leu) c.70071C>G (p.Phe23357Leu) c.51687C>G (p.Phe17229Leu) c.73182C>G (p.Phe24394Leu) c.73179C>G (p.Phe24393Leu) c.72612C>G (p.Phe24204Leu) c.69954C>G (p.Phe23318Leu) c.69873C>G (p.Phe23291Leu) c.51636C>G (p.Phe17212Leu) c.41490C>G (p.Phe13830Leu) | |
2 | g.178567391G>T | CA349601330 | TTN,TTN-AS1 | c.71037C>A (p.Phe23679Leu) c.52122C>A (p.Phe17374Leu) c.51921C>A (p.Phe17307Leu) c.51546C>A (p.Phe17182Leu) c.78741C>A (p.Phe26247Leu) c.73818C>A (p.Phe24606Leu) n.447-3909G>T n.2044-15181G>T c.77838C>A (p.Phe25946Leu) c.51732C>A (p.Phe17244Leu) c.51591C>A (p.Phe17197Leu) c.77634C>A (p.Phe25878Leu) c.73032C>A (p.Phe24344Leu) c.73029C>A (p.Phe24343Leu) c.70071C>A (p.Phe23357Leu) c.51687C>A (p.Phe17229Leu) c.73182C>A (p.Phe24394Leu) c.73179C>A (p.Phe24393Leu) c.72612C>A (p.Phe24204Leu) c.69954C>A (p.Phe23318Leu) c.69873C>A (p.Phe23291Leu) c.51636C>A (p.Phe17212Leu) c.41490C>A (p.Phe13830Leu) | |
2 | g.178567392A>C | CA349601333 | TTN,TTN-AS1 | c.71036T>G (p.Phe23679Cys) c.52121T>G (p.Phe17374Cys) c.51920T>G (p.Phe17307Cys) c.51545T>G (p.Phe17182Cys) c.78740T>G (p.Phe26247Cys) c.73817T>G (p.Phe24606Cys) n.447-3908A>C n.2044-15180A>C c.77837T>G (p.Phe25946Cys) c.51731T>G (p.Phe17244Cys) c.51590T>G (p.Phe17197Cys) c.77633T>G (p.Phe25878Cys) c.73031T>G (p.Phe24344Cys) c.73028T>G (p.Phe24343Cys) c.70070T>G (p.Phe23357Cys) c.51686T>G (p.Phe17229Cys) c.73181T>G (p.Phe24394Cys) c.73178T>G (p.Phe24393Cys) c.72611T>G (p.Phe24204Cys) c.69953T>G (p.Phe23318Cys) c.69872T>G (p.Phe23291Cys) c.51635T>G (p.Phe17212Cys) c.41489T>G (p.Phe13830Cys) | |
2 | g.178567392A>G | CA349601334 | TTN,TTN-AS1 | c.71036T>C (p.Phe23679Ser) c.52121T>C (p.Phe17374Ser) c.51920T>C (p.Phe17307Ser) c.51545T>C (p.Phe17182Ser) c.78740T>C (p.Phe26247Ser) c.73817T>C (p.Phe24606Ser) n.447-3908A>G n.2044-15180A>G c.77837T>C (p.Phe25946Ser) c.51731T>C (p.Phe17244Ser) c.51590T>C (p.Phe17197Ser) c.77633T>C (p.Phe25878Ser) c.73031T>C (p.Phe24344Ser) c.73028T>C (p.Phe24343Ser) c.70070T>C (p.Phe23357Ser) c.51686T>C (p.Phe17229Ser) c.73181T>C (p.Phe24394Ser) c.73178T>C (p.Phe24393Ser) c.72611T>C (p.Phe24204Ser) c.69953T>C (p.Phe23318Ser) c.69872T>C (p.Phe23291Ser) c.51635T>C (p.Phe17212Ser) c.41489T>C (p.Phe13830Ser) | |
2 | g.178567392A>T | CA349601336 | TTN,TTN-AS1 | c.71036T>A (p.Phe23679Tyr) c.52121T>A (p.Phe17374Tyr) c.51920T>A (p.Phe17307Tyr) c.51545T>A (p.Phe17182Tyr) c.78740T>A (p.Phe26247Tyr) c.73817T>A (p.Phe24606Tyr) n.447-3908A>T n.2044-15180A>T c.77837T>A (p.Phe25946Tyr) c.51731T>A (p.Phe17244Tyr) c.51590T>A (p.Phe17197Tyr) c.77633T>A (p.Phe25878Tyr) c.73031T>A (p.Phe24344Tyr) c.73028T>A (p.Phe24343Tyr) c.70070T>A (p.Phe23357Tyr) c.51686T>A (p.Phe17229Tyr) c.73181T>A (p.Phe24394Tyr) c.73178T>A (p.Phe24393Tyr) c.72611T>A (p.Phe24204Tyr) c.69953T>A (p.Phe23318Tyr) c.69872T>A (p.Phe23291Tyr) c.51635T>A (p.Phe17212Tyr) c.41489T>A (p.Phe13830Tyr) | |
2 | g.178567393A>C | CA349601339 | TTN,TTN-AS1 | c.71035T>G (p.Phe23679Val) c.52120T>G (p.Phe17374Val) c.51919T>G (p.Phe17307Val) c.51544T>G (p.Phe17182Val) c.78739T>G (p.Phe26247Val) c.73816T>G (p.Phe24606Val) n.447-3907A>C n.2044-15179A>C c.77836T>G (p.Phe25946Val) c.51730T>G (p.Phe17244Val) c.51589T>G (p.Phe17197Val) c.77632T>G (p.Phe25878Val) c.73030T>G (p.Phe24344Val) c.73027T>G (p.Phe24343Val) c.70069T>G (p.Phe23357Val) c.51685T>G (p.Phe17229Val) c.73180T>G (p.Phe24394Val) c.73177T>G (p.Phe24393Val) c.72610T>G (p.Phe24204Val) c.69952T>G (p.Phe23318Val) c.69871T>G (p.Phe23291Val) c.51634T>G (p.Phe17212Val) c.41488T>G (p.Phe13830Val) | |
2 | g.178567393A>G | CA349601340 | TTN,TTN-AS1 | c.71035T>C (p.Phe23679Leu) c.52120T>C (p.Phe17374Leu) c.51919T>C (p.Phe17307Leu) c.51544T>C (p.Phe17182Leu) c.78739T>C (p.Phe26247Leu) c.73816T>C (p.Phe24606Leu) n.447-3907A>G n.2044-15179A>G c.77836T>C (p.Phe25946Leu) c.51730T>C (p.Phe17244Leu) c.51589T>C (p.Phe17197Leu) c.77632T>C (p.Phe25878Leu) c.73030T>C (p.Phe24344Leu) c.73027T>C (p.Phe24343Leu) c.70069T>C (p.Phe23357Leu) c.51685T>C (p.Phe17229Leu) c.73180T>C (p.Phe24394Leu) c.73177T>C (p.Phe24393Leu) c.72610T>C (p.Phe24204Leu) c.69952T>C (p.Phe23318Leu) c.69871T>C (p.Phe23291Leu) c.51634T>C (p.Phe17212Leu) c.41488T>C (p.Phe13830Leu) | |
2 | g.178567393A>T | CA349601342 | TTN,TTN-AS1 | c.71035T>A (p.Phe23679Ile) c.52120T>A (p.Phe17374Ile) c.51919T>A (p.Phe17307Ile) c.51544T>A (p.Phe17182Ile) c.78739T>A (p.Phe26247Ile) c.73816T>A (p.Phe24606Ile) n.447-3907A>T n.2044-15179A>T c.77836T>A (p.Phe25946Ile) c.51730T>A (p.Phe17244Ile) c.51589T>A (p.Phe17197Ile) c.77632T>A (p.Phe25878Ile) c.73030T>A (p.Phe24344Ile) c.73027T>A (p.Phe24343Ile) c.70069T>A (p.Phe23357Ile) c.51685T>A (p.Phe17229Ile) c.73180T>A (p.Phe24394Ile) c.73177T>A (p.Phe24393Ile) c.72610T>A (p.Phe24204Ile) c.69952T>A (p.Phe23318Ile) c.69871T>A (p.Phe23291Ile) c.51634T>A (p.Phe17212Ile) c.41488T>A (p.Phe13830Ile) | |
2 | g.178567394A>C | CA349601344 | TTN,TTN-AS1 | c.71034T>G (p.Asp23678Glu) c.52119T>G (p.Asp17373Glu) c.51918T>G (p.Asp17306Glu) c.51543T>G (p.Asp17181Glu) c.78738T>G (p.Asp26246Glu) c.73815T>G (p.Asp24605Glu) n.447-3906A>C n.2044-15178A>C c.77835T>G (p.Asp25945Glu) c.51729T>G (p.Asp17243Glu) c.51588T>G (p.Asp17196Glu) c.77631T>G (p.Asp25877Glu) c.73029T>G (p.Asp24343Glu) c.73026T>G (p.Asp24342Glu) c.70068T>G (p.Asp23356Glu) c.51684T>G (p.Asp17228Glu) c.73179T>G (p.Asp24393Glu) c.73176T>G (p.Asp24392Glu) c.72609T>G (p.Asp24203Glu) c.69951T>G (p.Asp23317Glu) c.69870T>G (p.Asp23290Glu) c.51633T>G (p.Asp17211Glu) c.41487T>G (p.Asp13829Glu) | |
2 | g.178567394A>G | CA430252725 | TTN,TTN-AS1 | c.71034T>C (p.Asp23678=) c.52119T>C (p.Asp17373=) c.51918T>C (p.Asp17306=) c.51543T>C (p.Asp17181=) c.78738T>C (p.Asp26246=) c.73815T>C (p.Asp24605=) n.447-3906A>G n.2044-15178A>G c.77835T>C (p.Asp25945=) c.51729T>C (p.Asp17243=) c.51588T>C (p.Asp17196=) c.77631T>C (p.Asp25877=) c.73029T>C (p.Asp24343=) c.73026T>C (p.Asp24342=) c.70068T>C (p.Asp23356=) c.51684T>C (p.Asp17228=) c.73179T>C (p.Asp24393=) c.73176T>C (p.Asp24392=) c.72609T>C (p.Asp24203=) c.69951T>C (p.Asp23317=) c.69870T>C (p.Asp23290=) c.51633T>C (p.Asp17211=) c.41487T>C (p.Asp13829=) | |
2 | g.178567394A>T | CA349601346 | TTN,TTN-AS1 | c.71034T>A (p.Asp23678Glu) c.52119T>A (p.Asp17373Glu) c.51918T>A (p.Asp17306Glu) c.51543T>A (p.Asp17181Glu) c.78738T>A (p.Asp26246Glu) c.73815T>A (p.Asp24605Glu) n.447-3906A>T n.2044-15178A>T c.77835T>A (p.Asp25945Glu) c.51729T>A (p.Asp17243Glu) c.51588T>A (p.Asp17196Glu) c.77631T>A (p.Asp25877Glu) c.73029T>A (p.Asp24343Glu) c.73026T>A (p.Asp24342Glu) c.70068T>A (p.Asp23356Glu) c.51684T>A (p.Asp17228Glu) c.73179T>A (p.Asp24393Glu) c.73176T>A (p.Asp24392Glu) c.72609T>A (p.Asp24203Glu) c.69951T>A (p.Asp23317Glu) c.69870T>A (p.Asp23290Glu) c.51633T>A (p.Asp17211Glu) c.41487T>A (p.Asp13829Glu) | |
2 | g.178567395T>A | CA349601348 | TTN,TTN-AS1 | c.71033A>T (p.Asp23678Val) c.52118A>T (p.Asp17373Val) c.51917A>T (p.Asp17306Val) c.51542A>T (p.Asp17181Val) c.78737A>T (p.Asp26246Val) c.73814A>T (p.Asp24605Val) n.447-3905T>A n.2044-15177T>A c.77834A>T (p.Asp25945Val) c.51728A>T (p.Asp17243Val) c.51587A>T (p.Asp17196Val) c.77630A>T (p.Asp25877Val) c.73028A>T (p.Asp24343Val) c.73025A>T (p.Asp24342Val) c.70067A>T (p.Asp23356Val) c.51683A>T (p.Asp17228Val) c.73178A>T (p.Asp24393Val) c.73175A>T (p.Asp24392Val) c.72608A>T (p.Asp24203Val) c.69950A>T (p.Asp23317Val) c.69869A>T (p.Asp23290Val) c.51632A>T (p.Asp17211Val) c.41486A>T (p.Asp13829Val) | |
2 | g.178567395T>C | CA349601350 | TTN,TTN-AS1 | c.71033A>G (p.Asp23678Gly) c.52118A>G (p.Asp17373Gly) c.51917A>G (p.Asp17306Gly) c.51542A>G (p.Asp17181Gly) c.78737A>G (p.Asp26246Gly) c.73814A>G (p.Asp24605Gly) n.447-3905T>C n.2044-15177T>C c.77834A>G (p.Asp25945Gly) c.51728A>G (p.Asp17243Gly) c.51587A>G (p.Asp17196Gly) c.77630A>G (p.Asp25877Gly) c.73028A>G (p.Asp24343Gly) c.73025A>G (p.Asp24342Gly) c.70067A>G (p.Asp23356Gly) c.51683A>G (p.Asp17228Gly) c.73178A>G (p.Asp24393Gly) c.73175A>G (p.Asp24392Gly) c.72608A>G (p.Asp24203Gly) c.69950A>G (p.Asp23317Gly) c.69869A>G (p.Asp23290Gly) c.51632A>G (p.Asp17211Gly) c.41486A>G (p.Asp13829Gly) | |
2 | g.178567395T>G | CA349601352 | TTN,TTN-AS1 | c.71033A>C (p.Asp23678Ala) c.52118A>C (p.Asp17373Ala) c.51917A>C (p.Asp17306Ala) c.51542A>C (p.Asp17181Ala) c.78737A>C (p.Asp26246Ala) c.73814A>C (p.Asp24605Ala) n.447-3905T>G n.2044-15177T>G c.77834A>C (p.Asp25945Ala) c.51728A>C (p.Asp17243Ala) c.51587A>C (p.Asp17196Ala) c.77630A>C (p.Asp25877Ala) c.73028A>C (p.Asp24343Ala) c.73025A>C (p.Asp24342Ala) c.70067A>C (p.Asp23356Ala) c.51683A>C (p.Asp17228Ala) c.73178A>C (p.Asp24393Ala) c.73175A>C (p.Asp24392Ala) c.72608A>C (p.Asp24203Ala) c.69950A>C (p.Asp23317Ala) c.69869A>C (p.Asp23290Ala) c.51632A>C (p.Asp17211Ala) c.41486A>C (p.Asp13829Ala) | |
2 | g.178567396C>A | CA349601357 | TTN,TTN-AS1 | c.71032G>T (p.Asp23678Tyr) c.52117G>T (p.Asp17373Tyr) c.51916G>T (p.Asp17306Tyr) c.51541G>T (p.Asp17181Tyr) c.78736G>T (p.Asp26246Tyr) c.73813G>T (p.Asp24605Tyr) n.447-3904C>A n.2044-15176C>A c.77833G>T (p.Asp25945Tyr) c.51727G>T (p.Asp17243Tyr) c.51586G>T (p.Asp17196Tyr) c.77629G>T (p.Asp25877Tyr) c.73027G>T (p.Asp24343Tyr) c.73024G>T (p.Asp24342Tyr) c.70066G>T (p.Asp23356Tyr) c.51682G>T (p.Asp17228Tyr) c.73177G>T (p.Asp24393Tyr) c.73174G>T (p.Asp24392Tyr) c.72607G>T (p.Asp24203Tyr) c.69949G>T (p.Asp23317Tyr) c.69868G>T (p.Asp23290Tyr) c.51631G>T (p.Asp17211Tyr) c.41485G>T (p.Asp13829Tyr) | |
2 | g.178567396C= | CA1310529896 | TTN,TTN-AS1 | c.71032G= (p.Asp23678=) c.52117G= (p.Asp17373=) c.51916G= (p.Asp17306=) c.51541G= (p.Asp17181=) c.78736G= (p.Asp26246=) c.73813G= (p.Asp24605=) n.447-3904C= n.2044-15176C= c.77833G= (p.Asp25945=) c.51727G= (p.Asp17243=) c.51586G= (p.Asp17196=) c.77629G= (p.Asp25877=) c.73027G= (p.Asp24343=) c.73024G= (p.Asp24342=) c.70066G= (p.Asp23356=) c.51682G= (p.Asp17228=) c.73177G= (p.Asp24393=) c.73174G= (p.Asp24392=) c.72607G= (p.Asp24203=) c.69949G= (p.Asp23317=) c.69868G= (p.Asp23290=) c.51631G= (p.Asp17211=) c.41485G= (p.Asp13829=) | |
2 | g.178567396C>G | CA349601355 | TTN,TTN-AS1 | c.71032G>C (p.Asp23678His) c.52117G>C (p.Asp17373His) c.51916G>C (p.Asp17306His) c.51541G>C (p.Asp17181His) c.78736G>C (p.Asp26246His) c.73813G>C (p.Asp24605His) n.447-3904C>G n.2044-15176C>G c.77833G>C (p.Asp25945His) c.51727G>C (p.Asp17243His) c.51586G>C (p.Asp17196His) c.77629G>C (p.Asp25877His) c.73027G>C (p.Asp24343His) c.73024G>C (p.Asp24342His) c.70066G>C (p.Asp23356His) c.51682G>C (p.Asp17228His) c.73177G>C (p.Asp24393His) c.73174G>C (p.Asp24392His) c.72607G>C (p.Asp24203His) c.69949G>C (p.Asp23317His) c.69868G>C (p.Asp23290His) c.51631G>C (p.Asp17211His) c.41485G>C (p.Asp13829His) | |
2 | g.178567396C>T | CA60991185 | TTN,TTN-AS1 | c.71032G>A (p.Asp23678Asn) c.52117G>A (p.Asp17373Asn) c.51916G>A (p.Asp17306Asn) c.51541G>A (p.Asp17181Asn) c.78736G>A (p.Asp26246Asn) c.73813G>A (p.Asp24605Asn) n.447-3904C>T n.2044-15176C>T c.77833G>A (p.Asp25945Asn) c.51727G>A (p.Asp17243Asn) c.51586G>A (p.Asp17196Asn) c.77629G>A (p.Asp25877Asn) c.73027G>A (p.Asp24343Asn) c.73024G>A (p.Asp24342Asn) c.70066G>A (p.Asp23356Asn) c.51682G>A (p.Asp17228Asn) c.73177G>A (p.Asp24393Asn) c.73174G>A (p.Asp24392Asn) c.72607G>A (p.Asp24203Asn) c.69949G>A (p.Asp23317Asn) c.69868G>A (p.Asp23290Asn) c.51631G>A (p.Asp17211Asn) c.41485G>A (p.Asp13829Asn) | dbSNP gnomAD v4 |
2 | g.178567397T>A | CA430252730 | TTN,TTN-AS1 | c.71031A>T (p.Thr23677=) c.52116A>T (p.Thr17372=) c.51915A>T (p.Thr17305=) c.51540A>T (p.Thr17180=) c.78735A>T (p.Thr26245=) c.73812A>T (p.Thr24604=) n.447-3903T>A n.2044-15175T>A c.77832A>T (p.Thr25944=) c.51726A>T (p.Thr17242=) c.51585A>T (p.Thr17195=) c.77628A>T (p.Thr25876=) c.73026A>T (p.Thr24342=) c.73023A>T (p.Thr24341=) c.70065A>T (p.Thr23355=) c.51681A>T (p.Thr17227=) c.73176A>T (p.Thr24392=) c.73173A>T (p.Thr24391=) c.72606A>T (p.Thr24202=) c.69948A>T (p.Thr23316=) c.69867A>T (p.Thr23289=) c.51630A>T (p.Thr17210=) c.41484A>T (p.Thr13828=) | |
2 | g.178567397T>C | CA430252731 | TTN,TTN-AS1 | c.71031A>G (p.Thr23677=) c.52116A>G (p.Thr17372=) c.51915A>G (p.Thr17305=) c.51540A>G (p.Thr17180=) c.78735A>G (p.Thr26245=) c.73812A>G (p.Thr24604=) n.447-3903T>C n.2044-15175T>C c.77832A>G (p.Thr25944=) c.51726A>G (p.Thr17242=) c.51585A>G (p.Thr17195=) c.77628A>G (p.Thr25876=) c.73026A>G (p.Thr24342=) c.73023A>G (p.Thr24341=) c.70065A>G (p.Thr23355=) c.51681A>G (p.Thr17227=) c.73176A>G (p.Thr24392=) c.73173A>G (p.Thr24391=) c.72606A>G (p.Thr24202=) c.69948A>G (p.Thr23316=) c.69867A>G (p.Thr23289=) c.51630A>G (p.Thr17210=) c.41484A>G (p.Thr13828=) | |
2 | g.178567397T>G | CA430252732 | TTN,TTN-AS1 | c.71031A>C (p.Thr23677=) c.52116A>C (p.Thr17372=) c.51915A>C (p.Thr17305=) c.51540A>C (p.Thr17180=) c.78735A>C (p.Thr26245=) c.73812A>C (p.Thr24604=) n.447-3903T>G n.2044-15175T>G c.77832A>C (p.Thr25944=) c.51726A>C (p.Thr17242=) c.51585A>C (p.Thr17195=) c.77628A>C (p.Thr25876=) c.73026A>C (p.Thr24342=) c.73023A>C (p.Thr24341=) c.70065A>C (p.Thr23355=) c.51681A>C (p.Thr17227=) c.73176A>C (p.Thr24392=) c.73173A>C (p.Thr24391=) c.72606A>C (p.Thr24202=) c.69948A>C (p.Thr23316=) c.69867A>C (p.Thr23289=) c.51630A>C (p.Thr17210=) c.41484A>C (p.Thr13828=) | |
2 | g.178567398G>A | CA349601359 | TTN,TTN-AS1 | c.71030C>T (p.Thr23677Ile) c.52115C>T (p.Thr17372Ile) c.51914C>T (p.Thr17305Ile) c.51539C>T (p.Thr17180Ile) c.78734C>T (p.Thr26245Ile) c.73811C>T (p.Thr24604Ile) n.447-3902G>A n.2044-15174G>A c.77831C>T (p.Thr25944Ile) c.51725C>T (p.Thr17242Ile) c.51584C>T (p.Thr17195Ile) c.77627C>T (p.Thr25876Ile) c.73025C>T (p.Thr24342Ile) c.73022C>T (p.Thr24341Ile) c.70064C>T (p.Thr23355Ile) c.51680C>T (p.Thr17227Ile) c.73175C>T (p.Thr24392Ile) c.73172C>T (p.Thr24391Ile) c.72605C>T (p.Thr24202Ile) c.69947C>T (p.Thr23316Ile) c.69866C>T (p.Thr23289Ile) c.51629C>T (p.Thr17210Ile) c.41483C>T (p.Thr13828Ile) | dbSNP |
2 | g.178567398G>C | CA349601371 | TTN,TTN-AS1 | c.71030C>G (p.Thr23677Arg) c.52115C>G (p.Thr17372Arg) c.51914C>G (p.Thr17305Arg) c.51539C>G (p.Thr17180Arg) c.78734C>G (p.Thr26245Arg) c.73811C>G (p.Thr24604Arg) n.447-3902G>C n.2044-15174G>C c.77831C>G (p.Thr25944Arg) c.51725C>G (p.Thr17242Arg) c.51584C>G (p.Thr17195Arg) c.77627C>G (p.Thr25876Arg) c.73025C>G (p.Thr24342Arg) c.73022C>G (p.Thr24341Arg) c.70064C>G (p.Thr23355Arg) c.51680C>G (p.Thr17227Arg) c.73175C>G (p.Thr24392Arg) c.73172C>G (p.Thr24391Arg) c.72605C>G (p.Thr24202Arg) c.69947C>G (p.Thr23316Arg) c.69866C>G (p.Thr23289Arg) c.51629C>G (p.Thr17210Arg) c.41483C>G (p.Thr13828Arg) | |
2 | g.178567398G>T | CA349601361 | TTN,TTN-AS1 | c.71030C>A (p.Thr23677Lys) c.52115C>A (p.Thr17372Lys) c.51914C>A (p.Thr17305Lys) c.51539C>A (p.Thr17180Lys) c.78734C>A (p.Thr26245Lys) c.73811C>A (p.Thr24604Lys) n.447-3902G>T n.2044-15174G>T c.77831C>A (p.Thr25944Lys) c.51725C>A (p.Thr17242Lys) c.51584C>A (p.Thr17195Lys) c.77627C>A (p.Thr25876Lys) c.73025C>A (p.Thr24342Lys) c.73022C>A (p.Thr24341Lys) c.70064C>A (p.Thr23355Lys) c.51680C>A (p.Thr17227Lys) c.73175C>A (p.Thr24392Lys) c.73172C>A (p.Thr24391Lys) c.72605C>A (p.Thr24202Lys) c.69947C>A (p.Thr23316Lys) c.69866C>A (p.Thr23289Lys) c.51629C>A (p.Thr17210Lys) c.41483C>A (p.Thr13828Lys) | |
2 | g.178567399T>A | CA349601374 | TTN,TTN-AS1 | c.71029A>T (p.Thr23677Ser) c.52114A>T (p.Thr17372Ser) c.51913A>T (p.Thr17305Ser) c.51538A>T (p.Thr17180Ser) c.78733A>T (p.Thr26245Ser) c.73810A>T (p.Thr24604Ser) n.447-3901T>A n.2044-15173T>A c.77830A>T (p.Thr25944Ser) c.51724A>T (p.Thr17242Ser) c.51583A>T (p.Thr17195Ser) c.77626A>T (p.Thr25876Ser) c.73024A>T (p.Thr24342Ser) c.73021A>T (p.Thr24341Ser) c.70063A>T (p.Thr23355Ser) c.51679A>T (p.Thr17227Ser) c.73174A>T (p.Thr24392Ser) c.73171A>T (p.Thr24391Ser) c.72604A>T (p.Thr24202Ser) c.69946A>T (p.Thr23316Ser) c.69865A>T (p.Thr23289Ser) c.51628A>T (p.Thr17210Ser) c.41482A>T (p.Thr13828Ser) | |
2 | g.178567399T>C | CA349601376 | TTN,TTN-AS1 | c.71029A>G (p.Thr23677Ala) c.52114A>G (p.Thr17372Ala) c.51913A>G (p.Thr17305Ala) c.51538A>G (p.Thr17180Ala) c.78733A>G (p.Thr26245Ala) c.73810A>G (p.Thr24604Ala) n.447-3901T>C n.2044-15173T>C c.77830A>G (p.Thr25944Ala) c.51724A>G (p.Thr17242Ala) c.51583A>G (p.Thr17195Ala) c.77626A>G (p.Thr25876Ala) c.73024A>G (p.Thr24342Ala) c.73021A>G (p.Thr24341Ala) c.70063A>G (p.Thr23355Ala) c.51679A>G (p.Thr17227Ala) c.73174A>G (p.Thr24392Ala) c.73171A>G (p.Thr24391Ala) c.72604A>G (p.Thr24202Ala) c.69946A>G (p.Thr23316Ala) c.69865A>G (p.Thr23289Ala) c.51628A>G (p.Thr17210Ala) c.41482A>G (p.Thr13828Ala) | |
2 | g.178567399T>G | CA349601377 | TTN,TTN-AS1 | c.71029A>C (p.Thr23677Pro) c.52114A>C (p.Thr17372Pro) c.51913A>C (p.Thr17305Pro) c.51538A>C (p.Thr17180Pro) c.78733A>C (p.Thr26245Pro) c.73810A>C (p.Thr24604Pro) n.447-3901T>G n.2044-15173T>G c.77830A>C (p.Thr25944Pro) c.51724A>C (p.Thr17242Pro) c.51583A>C (p.Thr17195Pro) c.77626A>C (p.Thr25876Pro) c.73024A>C (p.Thr24342Pro) c.73021A>C (p.Thr24341Pro) c.70063A>C (p.Thr23355Pro) c.51679A>C (p.Thr17227Pro) c.73174A>C (p.Thr24392Pro) c.73171A>C (p.Thr24391Pro) c.72604A>C (p.Thr24202Pro) c.69946A>C (p.Thr23316Pro) c.69865A>C (p.Thr23289Pro) c.51628A>C (p.Thr17210Pro) c.41482A>C (p.Thr13828Pro) | |
2 | g.178567400G>A | CA430252739 | TTN,TTN-AS1 | c.71028C>T (p.Asn23676=) c.52113C>T (p.Asn17371=) c.51912C>T (p.Asn17304=) c.51537C>T (p.Asn17179=) c.78732C>T (p.Asn26244=) c.73809C>T (p.Asn24603=) n.447-3900G>A n.2044-15172G>A c.77829C>T (p.Asn25943=) c.51723C>T (p.Asn17241=) c.51582C>T (p.Asn17194=) c.77625C>T (p.Asn25875=) c.73023C>T (p.Asn24341=) c.73020C>T (p.Asn24340=) c.70062C>T (p.Asn23354=) c.51678C>T (p.Asn17226=) c.73173C>T (p.Asn24391=) c.73170C>T (p.Asn24390=) c.72603C>T (p.Asn24201=) c.69945C>T (p.Asn23315=) c.69864C>T (p.Asn23288=) c.51627C>T (p.Asn17209=) c.41481C>T (p.Asn13827=) | |
2 | g.178567400G>C | CA349601380 | TTN,TTN-AS1 | c.71028C>G (p.Asn23676Lys) c.52113C>G (p.Asn17371Lys) c.51912C>G (p.Asn17304Lys) c.51537C>G (p.Asn17179Lys) c.78732C>G (p.Asn26244Lys) c.73809C>G (p.Asn24603Lys) n.447-3900G>C n.2044-15172G>C c.77829C>G (p.Asn25943Lys) c.51723C>G (p.Asn17241Lys) c.51582C>G (p.Asn17194Lys) c.77625C>G (p.Asn25875Lys) c.73023C>G (p.Asn24341Lys) c.73020C>G (p.Asn24340Lys) c.70062C>G (p.Asn23354Lys) c.51678C>G (p.Asn17226Lys) c.73173C>G (p.Asn24391Lys) c.73170C>G (p.Asn24390Lys) c.72603C>G (p.Asn24201Lys) c.69945C>G (p.Asn23315Lys) c.69864C>G (p.Asn23288Lys) c.51627C>G (p.Asn17209Lys) c.41481C>G (p.Asn13827Lys) | gnomAD v4 |
2 | g.178567400G>T | CA349601381 | TTN,TTN-AS1 | c.71028C>A (p.Asn23676Lys) c.52113C>A (p.Asn17371Lys) c.51912C>A (p.Asn17304Lys) c.51537C>A (p.Asn17179Lys) c.78732C>A (p.Asn26244Lys) c.73809C>A (p.Asn24603Lys) n.447-3900G>T n.2044-15172G>T c.77829C>A (p.Asn25943Lys) c.51723C>A (p.Asn17241Lys) c.51582C>A (p.Asn17194Lys) c.77625C>A (p.Asn25875Lys) c.73023C>A (p.Asn24341Lys) c.73020C>A (p.Asn24340Lys) c.70062C>A (p.Asn23354Lys) c.51678C>A (p.Asn17226Lys) c.73173C>A (p.Asn24391Lys) c.73170C>A (p.Asn24390Lys) c.72603C>A (p.Asn24201Lys) c.69945C>A (p.Asn23315Lys) c.69864C>A (p.Asn23288Lys) c.51627C>A (p.Asn17209Lys) c.41481C>A (p.Asn13827Lys) | |
2 | g.178567401T>A | CA349601383 | TTN,TTN-AS1 | c.71027A>T (p.Asn23676Ile) c.52112A>T (p.Asn17371Ile) c.51911A>T (p.Asn17304Ile) c.51536A>T (p.Asn17179Ile) c.78731A>T (p.Asn26244Ile) c.73808A>T (p.Asn24603Ile) n.447-3899T>A n.2044-15171T>A c.77828A>T (p.Asn25943Ile) c.51722A>T (p.Asn17241Ile) c.51581A>T (p.Asn17194Ile) c.77624A>T (p.Asn25875Ile) c.73022A>T (p.Asn24341Ile) c.73019A>T (p.Asn24340Ile) c.70061A>T (p.Asn23354Ile) c.51677A>T (p.Asn17226Ile) c.73172A>T (p.Asn24391Ile) c.73169A>T (p.Asn24390Ile) c.72602A>T (p.Asn24201Ile) c.69944A>T (p.Asn23315Ile) c.69863A>T (p.Asn23288Ile) c.51626A>T (p.Asn17209Ile) c.41480A>T (p.Asn13827Ile) | |
2 | g.178567401T>C | CA349601385 | TTN,TTN-AS1 | c.71027A>G (p.Asn23676Ser) c.52112A>G (p.Asn17371Ser) c.51911A>G (p.Asn17304Ser) c.51536A>G (p.Asn17179Ser) c.78731A>G (p.Asn26244Ser) c.73808A>G (p.Asn24603Ser) n.447-3899T>C n.2044-15171T>C c.77828A>G (p.Asn25943Ser) c.51722A>G (p.Asn17241Ser) c.51581A>G (p.Asn17194Ser) c.77624A>G (p.Asn25875Ser) c.73022A>G (p.Asn24341Ser) c.73019A>G (p.Asn24340Ser) c.70061A>G (p.Asn23354Ser) c.51677A>G (p.Asn17226Ser) c.73172A>G (p.Asn24391Ser) c.73169A>G (p.Asn24390Ser) c.72602A>G (p.Asn24201Ser) c.69944A>G (p.Asn23315Ser) c.69863A>G (p.Asn23288Ser) c.51626A>G (p.Asn17209Ser) c.41480A>G (p.Asn13827Ser) | gnomAD v4 |
2 | g.178567401T>G | CA349601387 | TTN,TTN-AS1 | c.71027A>C (p.Asn23676Thr) c.52112A>C (p.Asn17371Thr) c.51911A>C (p.Asn17304Thr) c.51536A>C (p.Asn17179Thr) c.78731A>C (p.Asn26244Thr) c.73808A>C (p.Asn24603Thr) n.447-3899T>G n.2044-15171T>G c.77828A>C (p.Asn25943Thr) c.51722A>C (p.Asn17241Thr) c.51581A>C (p.Asn17194Thr) c.77624A>C (p.Asn25875Thr) c.73022A>C (p.Asn24341Thr) c.73019A>C (p.Asn24340Thr) c.70061A>C (p.Asn23354Thr) c.51677A>C (p.Asn17226Thr) c.73172A>C (p.Asn24391Thr) c.73169A>C (p.Asn24390Thr) c.72602A>C (p.Asn24201Thr) c.69944A>C (p.Asn23315Thr) c.69863A>C (p.Asn23288Thr) c.51626A>C (p.Asn17209Thr) c.41480A>C (p.Asn13827Thr) | |
2 | g.178567403_178567406del | CA2586965218 | TTN,TTN-AS1 | c.71024_71027del (p.Lys23675ThrfsTer10) c.52109_52112del (p.Lys17370ThrfsTer10) c.51908_51911del (p.Lys17303ThrfsTer10) c.51533_51536del (p.Lys17178ThrfsTer10) c.78728_78731del (p.Lys26243ThrfsTer10) c.73805_73808del (p.Lys24602ThrfsTer10) n.447-3897_447-3894del n.2044-15169_2044-15166del c.77825_77828del (p.Lys25942ThrfsTer10) c.51719_51722del (p.Lys17240ThrfsTer10) c.51578_51581del (p.Lys17193ThrfsTer10) c.77621_77624del (p.Lys25874ThrfsTer10) c.73019_73022del (p.Lys24340ThrfsTer10) c.73016_73019del (p.Lys24339ThrfsTer10) c.70058_70061del (p.Lys23353ThrfsTer10) c.51674_51677del (p.Lys17225ThrfsTer10) c.73169_73172del (p.Lys24390ThrfsTer10) c.73166_73169del (p.Lys24389ThrfsTer10) c.72599_72602del (p.Lys24200ThrfsTer10) c.69941_69944del (p.Lys23314ThrfsTer10) c.69860_69863del (p.Lys23287ThrfsTer10) c.51623_51626del (p.Lys17208ThrfsTer10) c.41477_41480del (p.Lys13826ThrfsTer10) | ClinVar gnomAD v4 |
2 | g.178567402T>A | CA349601389 | TTN,TTN-AS1 | c.71026A>T (p.Asn23676Tyr) c.52111A>T (p.Asn17371Tyr) c.51910A>T (p.Asn17304Tyr) c.51535A>T (p.Asn17179Tyr) c.78730A>T (p.Asn26244Tyr) c.73807A>T (p.Asn24603Tyr) n.447-3898T>A n.2044-15170T>A c.77827A>T (p.Asn25943Tyr) c.51721A>T (p.Asn17241Tyr) c.51580A>T (p.Asn17194Tyr) c.77623A>T (p.Asn25875Tyr) c.73021A>T (p.Asn24341Tyr) c.73018A>T (p.Asn24340Tyr) c.70060A>T (p.Asn23354Tyr) c.51676A>T (p.Asn17226Tyr) c.73171A>T (p.Asn24391Tyr) c.73168A>T (p.Asn24390Tyr) c.72601A>T (p.Asn24201Tyr) c.69943A>T (p.Asn23315Tyr) c.69862A>T (p.Asn23288Tyr) c.51625A>T (p.Asn17209Tyr) c.41479A>T (p.Asn13827Tyr) | |
2 | g.178567402T>C | CA349601390 | TTN,TTN-AS1 | c.71026A>G (p.Asn23676Asp) c.52111A>G (p.Asn17371Asp) c.51910A>G (p.Asn17304Asp) c.51535A>G (p.Asn17179Asp) c.78730A>G (p.Asn26244Asp) c.73807A>G (p.Asn24603Asp) n.447-3898T>C n.2044-15170T>C c.77827A>G (p.Asn25943Asp) c.51721A>G (p.Asn17241Asp) c.51580A>G (p.Asn17194Asp) c.77623A>G (p.Asn25875Asp) c.73021A>G (p.Asn24341Asp) c.73018A>G (p.Asn24340Asp) c.70060A>G (p.Asn23354Asp) c.51676A>G (p.Asn17226Asp) c.73171A>G (p.Asn24391Asp) c.73168A>G (p.Asn24390Asp) c.72601A>G (p.Asn24201Asp) c.69943A>G (p.Asn23315Asp) c.69862A>G (p.Asn23288Asp) c.51625A>G (p.Asn17209Asp) c.41479A>G (p.Asn13827Asp) | gnomAD v4 |
2 | g.178567402T>G | CA349601392 | TTN,TTN-AS1 | c.71026A>C (p.Asn23676His) c.52111A>C (p.Asn17371His) c.51910A>C (p.Asn17304His) c.51535A>C (p.Asn17179His) c.78730A>C (p.Asn26244His) c.73807A>C (p.Asn24603His) n.447-3898T>G n.2044-15170T>G c.77827A>C (p.Asn25943His) c.51721A>C (p.Asn17241His) c.51580A>C (p.Asn17194His) c.77623A>C (p.Asn25875His) c.73021A>C (p.Asn24341His) c.73018A>C (p.Asn24340His) c.70060A>C (p.Asn23354His) c.51676A>C (p.Asn17226His) c.73171A>C (p.Asn24391His) c.73168A>C (p.Asn24390His) c.72601A>C (p.Asn24201His) c.69943A>C (p.Asn23315His) c.69862A>C (p.Asn23288His) c.51625A>C (p.Asn17209His) c.41479A>C (p.Asn13827His) | gnomAD v4 |
2 | g.178567403C>A | CA349601393 | TTN,TTN-AS1 | c.71025G>T (p.Lys23675Asn) c.52110G>T (p.Lys17370Asn) c.51909G>T (p.Lys17303Asn) c.51534G>T (p.Lys17178Asn) c.78729G>T (p.Lys26243Asn) c.73806G>T (p.Lys24602Asn) n.447-3897C>A n.2044-15169C>A c.77826G>T (p.Lys25942Asn) c.51720G>T (p.Lys17240Asn) c.51579G>T (p.Lys17193Asn) c.77622G>T (p.Lys25874Asn) c.73020G>T (p.Lys24340Asn) c.73017G>T (p.Lys24339Asn) c.70059G>T (p.Lys23353Asn) c.51675G>T (p.Lys17225Asn) c.73170G>T (p.Lys24390Asn) c.73167G>T (p.Lys24389Asn) c.72600G>T (p.Lys24200Asn) c.69942G>T (p.Lys23314Asn) c.69861G>T (p.Lys23287Asn) c.51624G>T (p.Lys17208Asn) c.41478G>T (p.Lys13826Asn) | |
2 | g.178567403C>G | CA349601395 | TTN,TTN-AS1 | c.71025G>C (p.Lys23675Asn) c.52110G>C (p.Lys17370Asn) c.51909G>C (p.Lys17303Asn) c.51534G>C (p.Lys17178Asn) c.78729G>C (p.Lys26243Asn) c.73806G>C (p.Lys24602Asn) n.447-3897C>G n.2044-15169C>G c.77826G>C (p.Lys25942Asn) c.51720G>C (p.Lys17240Asn) c.51579G>C (p.Lys17193Asn) c.77622G>C (p.Lys25874Asn) c.73020G>C (p.Lys24340Asn) c.73017G>C (p.Lys24339Asn) c.70059G>C (p.Lys23353Asn) c.51675G>C (p.Lys17225Asn) c.73170G>C (p.Lys24390Asn) c.73167G>C (p.Lys24389Asn) c.72600G>C (p.Lys24200Asn) c.69942G>C (p.Lys23314Asn) c.69861G>C (p.Lys23287Asn) c.51624G>C (p.Lys17208Asn) c.41478G>C (p.Lys13826Asn) |