Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.178532144T>A | CA349411643 | TTN,TTN-AS1 | c.96767A>T (p.His32256Leu) c.77852A>T (p.His25951Leu) c.77651A>T (p.His25884Leu) c.77276A>T (p.His25759Leu) c.104471A>T (p.His34824Leu) c.99548A>T (p.His33183Leu) n.446+8508T>A n.220-3588T>A c.103568A>T (p.His34523Leu) c.77462A>T (p.His25821Leu) c.77321A>T (p.His25774Leu) c.103364A>T (p.His34455Leu) c.98762A>T (p.His32921Leu) c.98759A>T (p.His32920Leu) c.95801A>T (p.His31934Leu) c.77417A>T (p.His25806Leu) c.98912A>T (p.His32971Leu) c.98909A>T (p.His32970Leu) c.98342A>T (p.His32781Leu) c.95684A>T (p.His31895Leu) c.95603A>T (p.His31868Leu) c.77366A>T (p.His25789Leu) c.67220A>T (p.His22407Leu) | |
2 | g.178532144T>C | CA1985420 | TTN,TTN-AS1 | c.96767A>G (p.His32256Arg) c.77852A>G (p.His25951Arg) c.77651A>G (p.His25884Arg) c.77276A>G (p.His25759Arg) c.104471A>G (p.His34824Arg) c.99548A>G (p.His33183Arg) n.446+8508T>C n.220-3588T>C c.103568A>G (p.His34523Arg) c.77462A>G (p.His25821Arg) c.77321A>G (p.His25774Arg) c.103364A>G (p.His34455Arg) c.98762A>G (p.His32921Arg) c.98759A>G (p.His32920Arg) c.95801A>G (p.His31934Arg) c.77417A>G (p.His25806Arg) c.98912A>G (p.His32971Arg) c.98909A>G (p.His32970Arg) c.98342A>G (p.His32781Arg) c.95684A>G (p.His31895Arg) c.95603A>G (p.His31868Arg) c.77366A>G (p.His25789Arg) c.67220A>G (p.His22407Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178532144T>G | CA349411642 | TTN,TTN-AS1 | c.96767A>C (p.His32256Pro) c.77852A>C (p.His25951Pro) c.77651A>C (p.His25884Pro) c.77276A>C (p.His25759Pro) c.104471A>C (p.His34824Pro) c.99548A>C (p.His33183Pro) n.446+8508T>G n.220-3588T>G c.103568A>C (p.His34523Pro) c.77462A>C (p.His25821Pro) c.77321A>C (p.His25774Pro) c.103364A>C (p.His34455Pro) c.98762A>C (p.His32921Pro) c.98759A>C (p.His32920Pro) c.95801A>C (p.His31934Pro) c.77417A>C (p.His25806Pro) c.98912A>C (p.His32971Pro) c.98909A>C (p.His32970Pro) c.98342A>C (p.His32781Pro) c.95684A>C (p.His31895Pro) c.95603A>C (p.His31868Pro) c.77366A>C (p.His25789Pro) c.67220A>C (p.His22407Pro) | |
2 | g.178532144T= | CA1310518100 | TTN,TTN-AS1 | c.96767A= (p.His32256=) c.77852A= (p.His25951=) c.77651A= (p.His25884=) c.77276A= (p.His25759=) c.104471A= (p.His34824=) c.99548A= (p.His33183=) n.446+8508T= n.220-3588T= c.103568A= (p.His34523=) c.77462A= (p.His25821=) c.77321A= (p.His25774=) c.103364A= (p.His34455=) c.98762A= (p.His32921=) c.98759A= (p.His32920=) c.95801A= (p.His31934=) c.77417A= (p.His25806=) c.98912A= (p.His32971=) c.98909A= (p.His32970=) c.98342A= (p.His32781=) c.95684A= (p.His31895=) c.95603A= (p.His31868=) c.77366A= (p.His25789=) c.67220A= (p.His22407=) | |
2 | g.178532145G>A | CA349411644 | TTN,TTN-AS1 | c.96766C>T (p.His32256Tyr) c.77851C>T (p.His25951Tyr) c.77650C>T (p.His25884Tyr) c.77275C>T (p.His25759Tyr) c.104470C>T (p.His34824Tyr) c.99547C>T (p.His33183Tyr) n.446+8509G>A n.220-3587G>A c.103567C>T (p.His34523Tyr) c.77461C>T (p.His25821Tyr) c.77320C>T (p.His25774Tyr) c.103363C>T (p.His34455Tyr) c.98761C>T (p.His32921Tyr) c.98758C>T (p.His32920Tyr) c.95800C>T (p.His31934Tyr) c.77416C>T (p.His25806Tyr) c.98911C>T (p.His32971Tyr) c.98908C>T (p.His32970Tyr) c.98341C>T (p.His32781Tyr) c.95683C>T (p.His31895Tyr) c.95602C>T (p.His31868Tyr) c.77365C>T (p.His25789Tyr) c.67219C>T (p.His22407Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.178532145G>C | CA349411646 | TTN,TTN-AS1 | c.96766C>G (p.His32256Asp) c.77851C>G (p.His25951Asp) c.77650C>G (p.His25884Asp) c.77275C>G (p.His25759Asp) c.104470C>G (p.His34824Asp) c.99547C>G (p.His33183Asp) n.446+8509G>C n.220-3587G>C c.103567C>G (p.His34523Asp) c.77461C>G (p.His25821Asp) c.77320C>G (p.His25774Asp) c.103363C>G (p.His34455Asp) c.98761C>G (p.His32921Asp) c.98758C>G (p.His32920Asp) c.95800C>G (p.His31934Asp) c.77416C>G (p.His25806Asp) c.98911C>G (p.His32971Asp) c.98908C>G (p.His32970Asp) c.98341C>G (p.His32781Asp) c.95683C>G (p.His31895Asp) c.95602C>G (p.His31868Asp) c.77365C>G (p.His25789Asp) c.67219C>G (p.His22407Asp) | |
2 | g.178532145G= | CA1310518101 | TTN,TTN-AS1 | c.96766C= (p.His32256=) c.77851C= (p.His25951=) c.77650C= (p.His25884=) c.77275C= (p.His25759=) c.104470C= (p.His34824=) c.99547C= (p.His33183=) n.446+8509G= n.220-3587G= c.103567C= (p.His34523=) c.77461C= (p.His25821=) c.77320C= (p.His25774=) c.103363C= (p.His34455=) c.98761C= (p.His32921=) c.98758C= (p.His32920=) c.95800C= (p.His31934=) c.77416C= (p.His25806=) c.98911C= (p.His32971=) c.98908C= (p.His32970=) c.98341C= (p.His32781=) c.95683C= (p.His31895=) c.95602C= (p.His31868=) c.77365C= (p.His25789=) c.67219C= (p.His22407=) | |
2 | g.178532145G>T | CA349411647 | TTN,TTN-AS1 | c.96766C>A (p.His32256Asn) c.77851C>A (p.His25951Asn) c.77650C>A (p.His25884Asn) c.77275C>A (p.His25759Asn) c.104470C>A (p.His34824Asn) c.99547C>A (p.His33183Asn) n.446+8509G>T n.220-3587G>T c.103567C>A (p.His34523Asn) c.77461C>A (p.His25821Asn) c.77320C>A (p.His25774Asn) c.103363C>A (p.His34455Asn) c.98761C>A (p.His32921Asn) c.98758C>A (p.His32920Asn) c.95800C>A (p.His31934Asn) c.77416C>A (p.His25806Asn) c.98911C>A (p.His32971Asn) c.98908C>A (p.His32970Asn) c.98341C>A (p.His32781Asn) c.95683C>A (p.His31895Asn) c.95602C>A (p.His31868Asn) c.77365C>A (p.His25789Asn) c.67219C>A (p.His22407Asn) | COSMIC COSMIC COSMIC COSMIC |
2 | g.178532146T>A | CA349411649 | TTN,TTN-AS1 | c.96765A>T (p.Lys32255Asn) c.77850A>T (p.Lys25950Asn) c.77649A>T (p.Lys25883Asn) c.77274A>T (p.Lys25758Asn) c.104469A>T (p.Lys34823Asn) c.99546A>T (p.Lys33182Asn) n.446+8510T>A n.220-3586T>A c.103566A>T (p.Lys34522Asn) c.77460A>T (p.Lys25820Asn) c.77319A>T (p.Lys25773Asn) c.103362A>T (p.Lys34454Asn) c.98760A>T (p.Lys32920Asn) c.98757A>T (p.Lys32919Asn) c.95799A>T (p.Lys31933Asn) c.77415A>T (p.Lys25805Asn) c.98910A>T (p.Lys32970Asn) c.98907A>T (p.Lys32969Asn) c.98340A>T (p.Lys32780Asn) c.95682A>T (p.Lys31894Asn) c.95601A>T (p.Lys31867Asn) c.77364A>T (p.Lys25788Asn) c.67218A>T (p.Lys22406Asn) | |
2 | g.178532146T>C | CA430235895 | TTN,TTN-AS1 | c.96765A>G (p.Lys32255=) c.77850A>G (p.Lys25950=) c.77649A>G (p.Lys25883=) c.77274A>G (p.Lys25758=) c.104469A>G (p.Lys34823=) c.99546A>G (p.Lys33182=) n.446+8510T>C n.220-3586T>C c.103566A>G (p.Lys34522=) c.77460A>G (p.Lys25820=) c.77319A>G (p.Lys25773=) c.103362A>G (p.Lys34454=) c.98760A>G (p.Lys32920=) c.98757A>G (p.Lys32919=) c.95799A>G (p.Lys31933=) c.77415A>G (p.Lys25805=) c.98910A>G (p.Lys32970=) c.98907A>G (p.Lys32969=) c.98340A>G (p.Lys32780=) c.95682A>G (p.Lys31894=) c.95601A>G (p.Lys31867=) c.77364A>G (p.Lys25788=) c.67218A>G (p.Lys22406=) | |
2 | g.178532146T>G | CA349411651 | TTN,TTN-AS1 | c.96765A>C (p.Lys32255Asn) c.77850A>C (p.Lys25950Asn) c.77649A>C (p.Lys25883Asn) c.77274A>C (p.Lys25758Asn) c.104469A>C (p.Lys34823Asn) c.99546A>C (p.Lys33182Asn) n.446+8510T>G n.220-3586T>G c.103566A>C (p.Lys34522Asn) c.77460A>C (p.Lys25820Asn) c.77319A>C (p.Lys25773Asn) c.103362A>C (p.Lys34454Asn) c.98760A>C (p.Lys32920Asn) c.98757A>C (p.Lys32919Asn) c.95799A>C (p.Lys31933Asn) c.77415A>C (p.Lys25805Asn) c.98910A>C (p.Lys32970Asn) c.98907A>C (p.Lys32969Asn) c.98340A>C (p.Lys32780Asn) c.95682A>C (p.Lys31894Asn) c.95601A>C (p.Lys31867Asn) c.77364A>C (p.Lys25788Asn) c.67218A>C (p.Lys22406Asn) | |
2 | g.178532147T>A | CA349411655 | TTN,TTN-AS1 | c.96764A>T (p.Lys32255Ile) c.77849A>T (p.Lys25950Ile) c.77648A>T (p.Lys25883Ile) c.77273A>T (p.Lys25758Ile) c.104468A>T (p.Lys34823Ile) c.99545A>T (p.Lys33182Ile) n.446+8511T>A n.220-3585T>A c.103565A>T (p.Lys34522Ile) c.77459A>T (p.Lys25820Ile) c.77318A>T (p.Lys25773Ile) c.103361A>T (p.Lys34454Ile) c.98759A>T (p.Lys32920Ile) c.98756A>T (p.Lys32919Ile) c.95798A>T (p.Lys31933Ile) c.77414A>T (p.Lys25805Ile) c.98909A>T (p.Lys32970Ile) c.98906A>T (p.Lys32969Ile) c.98339A>T (p.Lys32780Ile) c.95681A>T (p.Lys31894Ile) c.95600A>T (p.Lys31867Ile) c.77363A>T (p.Lys25788Ile) c.67217A>T (p.Lys22406Ile) | |
2 | g.178532147T>C | CA349411653 | TTN,TTN-AS1 | c.96764A>G (p.Lys32255Arg) c.77849A>G (p.Lys25950Arg) c.77648A>G (p.Lys25883Arg) c.77273A>G (p.Lys25758Arg) c.104468A>G (p.Lys34823Arg) c.99545A>G (p.Lys33182Arg) n.446+8511T>C n.220-3585T>C c.103565A>G (p.Lys34522Arg) c.77459A>G (p.Lys25820Arg) c.77318A>G (p.Lys25773Arg) c.103361A>G (p.Lys34454Arg) c.98759A>G (p.Lys32920Arg) c.98756A>G (p.Lys32919Arg) c.95798A>G (p.Lys31933Arg) c.77414A>G (p.Lys25805Arg) c.98909A>G (p.Lys32970Arg) c.98906A>G (p.Lys32969Arg) c.98339A>G (p.Lys32780Arg) c.95681A>G (p.Lys31894Arg) c.95600A>G (p.Lys31867Arg) c.77363A>G (p.Lys25788Arg) c.67217A>G (p.Lys22406Arg) | |
2 | g.178532147T>G | CA349411654 | TTN,TTN-AS1 | c.96764A>C (p.Lys32255Thr) c.77849A>C (p.Lys25950Thr) c.77648A>C (p.Lys25883Thr) c.77273A>C (p.Lys25758Thr) c.104468A>C (p.Lys34823Thr) c.99545A>C (p.Lys33182Thr) n.446+8511T>G n.220-3585T>G c.103565A>C (p.Lys34522Thr) c.77459A>C (p.Lys25820Thr) c.77318A>C (p.Lys25773Thr) c.103361A>C (p.Lys34454Thr) c.98759A>C (p.Lys32920Thr) c.98756A>C (p.Lys32919Thr) c.95798A>C (p.Lys31933Thr) c.77414A>C (p.Lys25805Thr) c.98909A>C (p.Lys32970Thr) c.98906A>C (p.Lys32969Thr) c.98339A>C (p.Lys32780Thr) c.95681A>C (p.Lys31894Thr) c.95600A>C (p.Lys31867Thr) c.77363A>C (p.Lys25788Thr) c.67217A>C (p.Lys22406Thr) | |
2 | g.178532148T>A | CA349411657 | TTN,TTN-AS1 | c.96763A>T (p.Lys32255Ter) c.77848A>T (p.Lys25950Ter) c.77647A>T (p.Lys25883Ter) c.77272A>T (p.Lys25758Ter) c.104467A>T (p.Lys34823Ter) c.99544A>T (p.Lys33182Ter) n.446+8512T>A n.220-3584T>A c.103564A>T (p.Lys34522Ter) c.77458A>T (p.Lys25820Ter) c.77317A>T (p.Lys25773Ter) c.103360A>T (p.Lys34454Ter) c.98758A>T (p.Lys32920Ter) c.98755A>T (p.Lys32919Ter) c.95797A>T (p.Lys31933Ter) c.77413A>T (p.Lys25805Ter) c.98908A>T (p.Lys32970Ter) c.98905A>T (p.Lys32969Ter) c.98338A>T (p.Lys32780Ter) c.95680A>T (p.Lys31894Ter) c.95599A>T (p.Lys31867Ter) c.77362A>T (p.Lys25788Ter) c.67216A>T (p.Lys22406Ter) | |
2 | g.178532148T>C | CA349411659 | TTN,TTN-AS1 | c.96763A>G (p.Lys32255Glu) c.77848A>G (p.Lys25950Glu) c.77647A>G (p.Lys25883Glu) c.77272A>G (p.Lys25758Glu) c.104467A>G (p.Lys34823Glu) c.99544A>G (p.Lys33182Glu) n.446+8512T>C n.220-3584T>C c.103564A>G (p.Lys34522Glu) c.77458A>G (p.Lys25820Glu) c.77317A>G (p.Lys25773Glu) c.103360A>G (p.Lys34454Glu) c.98758A>G (p.Lys32920Glu) c.98755A>G (p.Lys32919Glu) c.95797A>G (p.Lys31933Glu) c.77413A>G (p.Lys25805Glu) c.98908A>G (p.Lys32970Glu) c.98905A>G (p.Lys32969Glu) c.98338A>G (p.Lys32780Glu) c.95680A>G (p.Lys31894Glu) c.95599A>G (p.Lys31867Glu) c.77362A>G (p.Lys25788Glu) c.67216A>G (p.Lys22406Glu) | |
2 | g.178532148T>G | CA349411661 | TTN,TTN-AS1 | c.96763A>C (p.Lys32255Gln) c.77848A>C (p.Lys25950Gln) c.77647A>C (p.Lys25883Gln) c.77272A>C (p.Lys25758Gln) c.104467A>C (p.Lys34823Gln) c.99544A>C (p.Lys33182Gln) n.446+8512T>G n.220-3584T>G c.103564A>C (p.Lys34522Gln) c.77458A>C (p.Lys25820Gln) c.77317A>C (p.Lys25773Gln) c.103360A>C (p.Lys34454Gln) c.98758A>C (p.Lys32920Gln) c.98755A>C (p.Lys32919Gln) c.95797A>C (p.Lys31933Gln) c.77413A>C (p.Lys25805Gln) c.98908A>C (p.Lys32970Gln) c.98905A>C (p.Lys32969Gln) c.98338A>C (p.Lys32780Gln) c.95680A>C (p.Lys31894Gln) c.95599A>C (p.Lys31867Gln) c.77362A>C (p.Lys25788Gln) c.67216A>C (p.Lys22406Gln) | gnomAD v4 |
2 | g.178532149T>A | CA430235896 | TTN,TTN-AS1 | c.96762A>T (p.Ser32254=) c.77847A>T (p.Ser25949=) c.77646A>T (p.Ser25882=) c.77271A>T (p.Ser25757=) c.104466A>T (p.Ser34822=) c.99543A>T (p.Ser33181=) n.446+8513T>A n.220-3583T>A c.103563A>T (p.Ser34521=) c.77457A>T (p.Ser25819=) c.77316A>T (p.Ser25772=) c.103359A>T (p.Ser34453=) c.98757A>T (p.Ser32919=) c.98754A>T (p.Ser32918=) c.95796A>T (p.Ser31932=) c.77412A>T (p.Ser25804=) c.98907A>T (p.Ser32969=) c.98904A>T (p.Ser32968=) c.98337A>T (p.Ser32779=) c.95679A>T (p.Ser31893=) c.95598A>T (p.Ser31866=) c.77361A>T (p.Ser25787=) c.67215A>T (p.Ser22405=) | |
2 | g.178532149T>C | CA430235897 | TTN,TTN-AS1 | c.96762A>G (p.Ser32254=) c.77847A>G (p.Ser25949=) c.77646A>G (p.Ser25882=) c.77271A>G (p.Ser25757=) c.104466A>G (p.Ser34822=) c.99543A>G (p.Ser33181=) n.446+8513T>C n.220-3583T>C c.103563A>G (p.Ser34521=) c.77457A>G (p.Ser25819=) c.77316A>G (p.Ser25772=) c.103359A>G (p.Ser34453=) c.98757A>G (p.Ser32919=) c.98754A>G (p.Ser32918=) c.95796A>G (p.Ser31932=) c.77412A>G (p.Ser25804=) c.98907A>G (p.Ser32969=) c.98904A>G (p.Ser32968=) c.98337A>G (p.Ser32779=) c.95679A>G (p.Ser31893=) c.95598A>G (p.Ser31866=) c.77361A>G (p.Ser25787=) c.67215A>G (p.Ser22405=) | ClinVar |
2 | g.178532149T>G | CA430235898 | TTN,TTN-AS1 | c.96762A>C (p.Ser32254=) c.77847A>C (p.Ser25949=) c.77646A>C (p.Ser25882=) c.77271A>C (p.Ser25757=) c.104466A>C (p.Ser34822=) c.99543A>C (p.Ser33181=) n.446+8513T>G n.220-3583T>G c.103563A>C (p.Ser34521=) c.77457A>C (p.Ser25819=) c.77316A>C (p.Ser25772=) c.103359A>C (p.Ser34453=) c.98757A>C (p.Ser32919=) c.98754A>C (p.Ser32918=) c.95796A>C (p.Ser31932=) c.77412A>C (p.Ser25804=) c.98907A>C (p.Ser32969=) c.98904A>C (p.Ser32968=) c.98337A>C (p.Ser32779=) c.95679A>C (p.Ser31893=) c.95598A>C (p.Ser31866=) c.77361A>C (p.Ser25787=) c.67215A>C (p.Ser22405=) | |
2 | g.178532150G>A | CA1985421 | TTN,TTN-AS1 | c.96761C>T (p.Ser32254Leu) c.77846C>T (p.Ser25949Leu) c.77645C>T (p.Ser25882Leu) c.77270C>T (p.Ser25757Leu) c.104465C>T (p.Ser34822Leu) c.99542C>T (p.Ser33181Leu) n.446+8514G>A n.220-3582G>A c.103562C>T (p.Ser34521Leu) c.77456C>T (p.Ser25819Leu) c.77315C>T (p.Ser25772Leu) c.103358C>T (p.Ser34453Leu) c.98756C>T (p.Ser32919Leu) c.98753C>T (p.Ser32918Leu) c.95795C>T (p.Ser31932Leu) c.77411C>T (p.Ser25804Leu) c.98906C>T (p.Ser32969Leu) c.98903C>T (p.Ser32968Leu) c.98336C>T (p.Ser32779Leu) c.95678C>T (p.Ser31893Leu) c.95597C>T (p.Ser31866Leu) c.77360C>T (p.Ser25787Leu) c.67214C>T (p.Ser22405Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178532150G>C | CA349411664 | TTN,TTN-AS1 | c.96761C>G (p.Ser32254Ter) c.77846C>G (p.Ser25949Ter) c.77645C>G (p.Ser25882Ter) c.77270C>G (p.Ser25757Ter) c.104465C>G (p.Ser34822Ter) c.99542C>G (p.Ser33181Ter) n.446+8514G>C n.220-3582G>C c.103562C>G (p.Ser34521Ter) c.77456C>G (p.Ser25819Ter) c.77315C>G (p.Ser25772Ter) c.103358C>G (p.Ser34453Ter) c.98756C>G (p.Ser32919Ter) c.98753C>G (p.Ser32918Ter) c.95795C>G (p.Ser31932Ter) c.77411C>G (p.Ser25804Ter) c.98906C>G (p.Ser32969Ter) c.98903C>G (p.Ser32968Ter) c.98336C>G (p.Ser32779Ter) c.95678C>G (p.Ser31893Ter) c.95597C>G (p.Ser31866Ter) c.77360C>G (p.Ser25787Ter) c.67214C>G (p.Ser22405Ter) | |
2 | g.178532150G= | CA1310518102 | TTN,TTN-AS1 | c.96761C= (p.Ser32254=) c.77846C= (p.Ser25949=) c.77645C= (p.Ser25882=) c.77270C= (p.Ser25757=) c.104465C= (p.Ser34822=) c.99542C= (p.Ser33181=) n.446+8514G= n.220-3582G= c.103562C= (p.Ser34521=) c.77456C= (p.Ser25819=) c.77315C= (p.Ser25772=) c.103358C= (p.Ser34453=) c.98756C= (p.Ser32919=) c.98753C= (p.Ser32918=) c.95795C= (p.Ser31932=) c.77411C= (p.Ser25804=) c.98906C= (p.Ser32969=) c.98903C= (p.Ser32968=) c.98336C= (p.Ser32779=) c.95678C= (p.Ser31893=) c.95597C= (p.Ser31866=) c.77360C= (p.Ser25787=) c.67214C= (p.Ser22405=) | |
2 | g.178532150G>T | CA349411665 | TTN,TTN-AS1 | c.96761C>A (p.Ser32254Ter) c.77846C>A (p.Ser25949Ter) c.77645C>A (p.Ser25882Ter) c.77270C>A (p.Ser25757Ter) c.104465C>A (p.Ser34822Ter) c.99542C>A (p.Ser33181Ter) n.446+8514G>T n.220-3582G>T c.103562C>A (p.Ser34521Ter) c.77456C>A (p.Ser25819Ter) c.77315C>A (p.Ser25772Ter) c.103358C>A (p.Ser34453Ter) c.98756C>A (p.Ser32919Ter) c.98753C>A (p.Ser32918Ter) c.95795C>A (p.Ser31932Ter) c.77411C>A (p.Ser25804Ter) c.98906C>A (p.Ser32969Ter) c.98903C>A (p.Ser32968Ter) c.98336C>A (p.Ser32779Ter) c.95678C>A (p.Ser31893Ter) c.95597C>A (p.Ser31866Ter) c.77360C>A (p.Ser25787Ter) c.67214C>A (p.Ser22405Ter) | |
2 | g.178532151A= | CA1310518103 | TTN,TTN-AS1 | c.96760T= (p.Ser32254=) c.77845T= (p.Ser25949=) c.77644T= (p.Ser25882=) c.77269T= (p.Ser25757=) c.104464T= (p.Ser34822=) c.99541T= (p.Ser33181=) n.446+8515A= n.220-3581A= c.103561T= (p.Ser34521=) c.77455T= (p.Ser25819=) c.77314T= (p.Ser25772=) c.103357T= (p.Ser34453=) c.98755T= (p.Ser32919=) c.98752T= (p.Ser32918=) c.95794T= (p.Ser31932=) c.77410T= (p.Ser25804=) c.98905T= (p.Ser32969=) c.98902T= (p.Ser32968=) c.98335T= (p.Ser32779=) c.95677T= (p.Ser31893=) c.95596T= (p.Ser31866=) c.77359T= (p.Ser25787=) c.67213T= (p.Ser22405=) | |
2 | g.178532151A>C | CA349411667 | TTN,TTN-AS1 | c.96760T>G (p.Ser32254Ala) c.77845T>G (p.Ser25949Ala) c.77644T>G (p.Ser25882Ala) c.77269T>G (p.Ser25757Ala) c.104464T>G (p.Ser34822Ala) c.99541T>G (p.Ser33181Ala) n.446+8515A>C n.220-3581A>C c.103561T>G (p.Ser34521Ala) c.77455T>G (p.Ser25819Ala) c.77314T>G (p.Ser25772Ala) c.103357T>G (p.Ser34453Ala) c.98755T>G (p.Ser32919Ala) c.98752T>G (p.Ser32918Ala) c.95794T>G (p.Ser31932Ala) c.77410T>G (p.Ser25804Ala) c.98905T>G (p.Ser32969Ala) c.98902T>G (p.Ser32968Ala) c.98335T>G (p.Ser32779Ala) c.95677T>G (p.Ser31893Ala) c.95596T>G (p.Ser31866Ala) c.77359T>G (p.Ser25787Ala) c.67213T>G (p.Ser22405Ala) | |
2 | g.178532151A>G | CA1985422 | TTN,TTN-AS1 | c.96760T>C (p.Ser32254Pro) c.77845T>C (p.Ser25949Pro) c.77644T>C (p.Ser25882Pro) c.77269T>C (p.Ser25757Pro) c.104464T>C (p.Ser34822Pro) c.99541T>C (p.Ser33181Pro) n.446+8515A>G n.220-3581A>G c.103561T>C (p.Ser34521Pro) c.77455T>C (p.Ser25819Pro) c.77314T>C (p.Ser25772Pro) c.103357T>C (p.Ser34453Pro) c.98755T>C (p.Ser32919Pro) c.98752T>C (p.Ser32918Pro) c.95794T>C (p.Ser31932Pro) c.77410T>C (p.Ser25804Pro) c.98905T>C (p.Ser32969Pro) c.98902T>C (p.Ser32968Pro) c.98335T>C (p.Ser32779Pro) c.95677T>C (p.Ser31893Pro) c.95596T>C (p.Ser31866Pro) c.77359T>C (p.Ser25787Pro) c.67213T>C (p.Ser22405Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178532151A>T | CA349411669 | TTN,TTN-AS1 | c.96760T>A (p.Ser32254Thr) c.77845T>A (p.Ser25949Thr) c.77644T>A (p.Ser25882Thr) c.77269T>A (p.Ser25757Thr) c.104464T>A (p.Ser34822Thr) c.99541T>A (p.Ser33181Thr) n.446+8515A>T n.220-3581A>T c.103561T>A (p.Ser34521Thr) c.77455T>A (p.Ser25819Thr) c.77314T>A (p.Ser25772Thr) c.103357T>A (p.Ser34453Thr) c.98755T>A (p.Ser32919Thr) c.98752T>A (p.Ser32918Thr) c.95794T>A (p.Ser31932Thr) c.77410T>A (p.Ser25804Thr) c.98905T>A (p.Ser32969Thr) c.98902T>A (p.Ser32968Thr) c.98335T>A (p.Ser32779Thr) c.95677T>A (p.Ser31893Thr) c.95596T>A (p.Ser31866Thr) c.77359T>A (p.Ser25787Thr) c.67213T>A (p.Ser22405Thr) | |
2 | g.178532152G>A | CA430235899 | TTN,TTN-AS1 | c.96759C>T (p.Ile32253=) c.77844C>T (p.Ile25948=) c.77643C>T (p.Ile25881=) c.77268C>T (p.Ile25756=) c.104463C>T (p.Ile34821=) c.99540C>T (p.Ile33180=) n.446+8516G>A n.220-3580G>A c.103560C>T (p.Ile34520=) c.77454C>T (p.Ile25818=) c.77313C>T (p.Ile25771=) c.103356C>T (p.Ile34452=) c.98754C>T (p.Ile32918=) c.98751C>T (p.Ile32917=) c.95793C>T (p.Ile31931=) c.77409C>T (p.Ile25803=) c.98904C>T (p.Ile32968=) c.98901C>T (p.Ile32967=) c.98334C>T (p.Ile32778=) c.95676C>T (p.Ile31892=) c.95595C>T (p.Ile31865=) c.77358C>T (p.Ile25786=) c.67212C>T (p.Ile22404=) | gnomAD v4 |
2 | g.178532152G>C | CA349411671 | TTN,TTN-AS1 | c.96759C>G (p.Ile32253Met) c.77844C>G (p.Ile25948Met) c.77643C>G (p.Ile25881Met) c.77268C>G (p.Ile25756Met) c.104463C>G (p.Ile34821Met) c.99540C>G (p.Ile33180Met) n.446+8516G>C n.220-3580G>C c.103560C>G (p.Ile34520Met) c.77454C>G (p.Ile25818Met) c.77313C>G (p.Ile25771Met) c.103356C>G (p.Ile34452Met) c.98754C>G (p.Ile32918Met) c.98751C>G (p.Ile32917Met) c.95793C>G (p.Ile31931Met) c.77409C>G (p.Ile25803Met) c.98904C>G (p.Ile32968Met) c.98901C>G (p.Ile32967Met) c.98334C>G (p.Ile32778Met) c.95676C>G (p.Ile31892Met) c.95595C>G (p.Ile31865Met) c.77358C>G (p.Ile25786Met) c.67212C>G (p.Ile22404Met) | gnomAD v4 |
2 | g.178532152G>T | CA430235900 | TTN,TTN-AS1 | c.96759C>A (p.Ile32253=) c.77844C>A (p.Ile25948=) c.77643C>A (p.Ile25881=) c.77268C>A (p.Ile25756=) c.104463C>A (p.Ile34821=) c.99540C>A (p.Ile33180=) n.446+8516G>T n.220-3580G>T c.103560C>A (p.Ile34520=) c.77454C>A (p.Ile25818=) c.77313C>A (p.Ile25771=) c.103356C>A (p.Ile34452=) c.98754C>A (p.Ile32918=) c.98751C>A (p.Ile32917=) c.95793C>A (p.Ile31931=) c.77409C>A (p.Ile25803=) c.98904C>A (p.Ile32968=) c.98901C>A (p.Ile32967=) c.98334C>A (p.Ile32778=) c.95676C>A (p.Ile31892=) c.95595C>A (p.Ile31865=) c.77358C>A (p.Ile25786=) c.67212C>A (p.Ile22404=) | |
2 | g.178532153A>C | CA349411673 | TTN,TTN-AS1 | c.96758T>G (p.Ile32253Ser) c.77843T>G (p.Ile25948Ser) c.77642T>G (p.Ile25881Ser) c.77267T>G (p.Ile25756Ser) c.104462T>G (p.Ile34821Ser) c.99539T>G (p.Ile33180Ser) n.446+8517A>C n.220-3579A>C c.103559T>G (p.Ile34520Ser) c.77453T>G (p.Ile25818Ser) c.77312T>G (p.Ile25771Ser) c.103355T>G (p.Ile34452Ser) c.98753T>G (p.Ile32918Ser) c.98750T>G (p.Ile32917Ser) c.95792T>G (p.Ile31931Ser) c.77408T>G (p.Ile25803Ser) c.98903T>G (p.Ile32968Ser) c.98900T>G (p.Ile32967Ser) c.98333T>G (p.Ile32778Ser) c.95675T>G (p.Ile31892Ser) c.95594T>G (p.Ile31865Ser) c.77357T>G (p.Ile25786Ser) c.67211T>G (p.Ile22404Ser) | |
2 | g.178532153A>G | CA349411674 | TTN,TTN-AS1 | c.96758T>C (p.Ile32253Thr) c.77843T>C (p.Ile25948Thr) c.77642T>C (p.Ile25881Thr) c.77267T>C (p.Ile25756Thr) c.104462T>C (p.Ile34821Thr) c.99539T>C (p.Ile33180Thr) n.446+8517A>G n.220-3579A>G c.103559T>C (p.Ile34520Thr) c.77453T>C (p.Ile25818Thr) c.77312T>C (p.Ile25771Thr) c.103355T>C (p.Ile34452Thr) c.98753T>C (p.Ile32918Thr) c.98750T>C (p.Ile32917Thr) c.95792T>C (p.Ile31931Thr) c.77408T>C (p.Ile25803Thr) c.98903T>C (p.Ile32968Thr) c.98900T>C (p.Ile32967Thr) c.98333T>C (p.Ile32778Thr) c.95675T>C (p.Ile31892Thr) c.95594T>C (p.Ile31865Thr) c.77357T>C (p.Ile25786Thr) c.67211T>C (p.Ile22404Thr) | dbSNP gnomAD v4 |
2 | g.178532153A>T | CA349411675 | TTN,TTN-AS1 | c.96758T>A (p.Ile32253Asn) c.77843T>A (p.Ile25948Asn) c.77642T>A (p.Ile25881Asn) c.77267T>A (p.Ile25756Asn) c.104462T>A (p.Ile34821Asn) c.99539T>A (p.Ile33180Asn) n.446+8517A>T n.220-3579A>T c.103559T>A (p.Ile34520Asn) c.77453T>A (p.Ile25818Asn) c.77312T>A (p.Ile25771Asn) c.103355T>A (p.Ile34452Asn) c.98753T>A (p.Ile32918Asn) c.98750T>A (p.Ile32917Asn) c.95792T>A (p.Ile31931Asn) c.77408T>A (p.Ile25803Asn) c.98903T>A (p.Ile32968Asn) c.98900T>A (p.Ile32967Asn) c.98333T>A (p.Ile32778Asn) c.95675T>A (p.Ile31892Asn) c.95594T>A (p.Ile31865Asn) c.77357T>A (p.Ile25786Asn) c.67211T>A (p.Ile22404Asn) | |
2 | g.178532154T>A | CA349411678 | TTN,TTN-AS1 | c.96757A>T (p.Ile32253Phe) c.77842A>T (p.Ile25948Phe) c.77641A>T (p.Ile25881Phe) c.77266A>T (p.Ile25756Phe) c.104461A>T (p.Ile34821Phe) c.99538A>T (p.Ile33180Phe) n.446+8518T>A n.220-3578T>A c.103558A>T (p.Ile34520Phe) c.77452A>T (p.Ile25818Phe) c.77311A>T (p.Ile25771Phe) c.103354A>T (p.Ile34452Phe) c.98752A>T (p.Ile32918Phe) c.98749A>T (p.Ile32917Phe) c.95791A>T (p.Ile31931Phe) c.77407A>T (p.Ile25803Phe) c.98902A>T (p.Ile32968Phe) c.98899A>T (p.Ile32967Phe) c.98332A>T (p.Ile32778Phe) c.95674A>T (p.Ile31892Phe) c.95593A>T (p.Ile31865Phe) c.77356A>T (p.Ile25786Phe) c.67210A>T (p.Ile22404Phe) | |
2 | g.178532154T>C | CA349411676 | TTN,TTN-AS1 | c.96757A>G (p.Ile32253Val) c.77842A>G (p.Ile25948Val) c.77641A>G (p.Ile25881Val) c.77266A>G (p.Ile25756Val) c.104461A>G (p.Ile34821Val) c.99538A>G (p.Ile33180Val) n.446+8518T>C n.220-3578T>C c.103558A>G (p.Ile34520Val) c.77452A>G (p.Ile25818Val) c.77311A>G (p.Ile25771Val) c.103354A>G (p.Ile34452Val) c.98752A>G (p.Ile32918Val) c.98749A>G (p.Ile32917Val) c.95791A>G (p.Ile31931Val) c.77407A>G (p.Ile25803Val) c.98902A>G (p.Ile32968Val) c.98899A>G (p.Ile32967Val) c.98332A>G (p.Ile32778Val) c.95674A>G (p.Ile31892Val) c.95593A>G (p.Ile31865Val) c.77356A>G (p.Ile25786Val) c.67210A>G (p.Ile22404Val) | |
2 | g.178532154T>G | CA349411677 | TTN,TTN-AS1 | c.96757A>C (p.Ile32253Leu) c.77842A>C (p.Ile25948Leu) c.77641A>C (p.Ile25881Leu) c.77266A>C (p.Ile25756Leu) c.104461A>C (p.Ile34821Leu) c.99538A>C (p.Ile33180Leu) n.446+8518T>G n.220-3578T>G c.103558A>C (p.Ile34520Leu) c.77452A>C (p.Ile25818Leu) c.77311A>C (p.Ile25771Leu) c.103354A>C (p.Ile34452Leu) c.98752A>C (p.Ile32918Leu) c.98749A>C (p.Ile32917Leu) c.95791A>C (p.Ile31931Leu) c.77407A>C (p.Ile25803Leu) c.98902A>C (p.Ile32968Leu) c.98899A>C (p.Ile32967Leu) c.98332A>C (p.Ile32778Leu) c.95674A>C (p.Ile31892Leu) c.95593A>C (p.Ile31865Leu) c.77356A>C (p.Ile25786Leu) c.67210A>C (p.Ile22404Leu) | |
2 | g.178532155T>A | CA349411679 | TTN,TTN-AS1 | c.96756A>T (p.Glu32252Asp) c.77841A>T (p.Glu25947Asp) c.77640A>T (p.Glu25880Asp) c.77265A>T (p.Glu25755Asp) c.104460A>T (p.Glu34820Asp) c.99537A>T (p.Glu33179Asp) n.446+8519T>A n.220-3577T>A c.103557A>T (p.Glu34519Asp) c.77451A>T (p.Glu25817Asp) c.77310A>T (p.Glu25770Asp) c.103353A>T (p.Glu34451Asp) c.98751A>T (p.Glu32917Asp) c.98748A>T (p.Glu32916Asp) c.95790A>T (p.Glu31930Asp) c.77406A>T (p.Glu25802Asp) c.98901A>T (p.Glu32967Asp) c.98898A>T (p.Glu32966Asp) c.98331A>T (p.Glu32777Asp) c.95673A>T (p.Glu31891Asp) c.95592A>T (p.Glu31864Asp) c.77355A>T (p.Glu25785Asp) c.67209A>T (p.Glu22403Asp) | |
2 | g.178532155T>C | CA430235901 | TTN,TTN-AS1 | c.96756A>G (p.Glu32252=) c.77841A>G (p.Glu25947=) c.77640A>G (p.Glu25880=) c.77265A>G (p.Glu25755=) c.104460A>G (p.Glu34820=) c.99537A>G (p.Glu33179=) n.446+8519T>C n.220-3577T>C c.103557A>G (p.Glu34519=) c.77451A>G (p.Glu25817=) c.77310A>G (p.Glu25770=) c.103353A>G (p.Glu34451=) c.98751A>G (p.Glu32917=) c.98748A>G (p.Glu32916=) c.95790A>G (p.Glu31930=) c.77406A>G (p.Glu25802=) c.98901A>G (p.Glu32967=) c.98898A>G (p.Glu32966=) c.98331A>G (p.Glu32777=) c.95673A>G (p.Glu31891=) c.95592A>G (p.Glu31864=) c.77355A>G (p.Glu25785=) c.67209A>G (p.Glu22403=) | |
2 | g.178532155T>G | CA349411680 | TTN,TTN-AS1 | c.96756A>C (p.Glu32252Asp) c.77841A>C (p.Glu25947Asp) c.77640A>C (p.Glu25880Asp) c.77265A>C (p.Glu25755Asp) c.104460A>C (p.Glu34820Asp) c.99537A>C (p.Glu33179Asp) n.446+8519T>G n.220-3577T>G c.103557A>C (p.Glu34519Asp) c.77451A>C (p.Glu25817Asp) c.77310A>C (p.Glu25770Asp) c.103353A>C (p.Glu34451Asp) c.98751A>C (p.Glu32917Asp) c.98748A>C (p.Glu32916Asp) c.95790A>C (p.Glu31930Asp) c.77406A>C (p.Glu25802Asp) c.98901A>C (p.Glu32967Asp) c.98898A>C (p.Glu32966Asp) c.98331A>C (p.Glu32777Asp) c.95673A>C (p.Glu31891Asp) c.95592A>C (p.Glu31864Asp) c.77355A>C (p.Glu25785Asp) c.67209A>C (p.Glu22403Asp) | |
2 | g.178532156T>A | CA349411681 | TTN,TTN-AS1 | c.96755A>T (p.Glu32252Val) c.77840A>T (p.Glu25947Val) c.77639A>T (p.Glu25880Val) c.77264A>T (p.Glu25755Val) c.104459A>T (p.Glu34820Val) c.99536A>T (p.Glu33179Val) n.446+8520T>A n.220-3576T>A c.103556A>T (p.Glu34519Val) c.77450A>T (p.Glu25817Val) c.77309A>T (p.Glu25770Val) c.103352A>T (p.Glu34451Val) c.98750A>T (p.Glu32917Val) c.98747A>T (p.Glu32916Val) c.95789A>T (p.Glu31930Val) c.77405A>T (p.Glu25802Val) c.98900A>T (p.Glu32967Val) c.98897A>T (p.Glu32966Val) c.98330A>T (p.Glu32777Val) c.95672A>T (p.Glu31891Val) c.95591A>T (p.Glu31864Val) c.77354A>T (p.Glu25785Val) c.67208A>T (p.Glu22403Val) | |
2 | g.178532156T>C | CA349411682 | TTN,TTN-AS1 | c.96755A>G (p.Glu32252Gly) c.77840A>G (p.Glu25947Gly) c.77639A>G (p.Glu25880Gly) c.77264A>G (p.Glu25755Gly) c.104459A>G (p.Glu34820Gly) c.99536A>G (p.Glu33179Gly) n.446+8520T>C n.220-3576T>C c.103556A>G (p.Glu34519Gly) c.77450A>G (p.Glu25817Gly) c.77309A>G (p.Glu25770Gly) c.103352A>G (p.Glu34451Gly) c.98750A>G (p.Glu32917Gly) c.98747A>G (p.Glu32916Gly) c.95789A>G (p.Glu31930Gly) c.77405A>G (p.Glu25802Gly) c.98900A>G (p.Glu32967Gly) c.98897A>G (p.Glu32966Gly) c.98330A>G (p.Glu32777Gly) c.95672A>G (p.Glu31891Gly) c.95591A>G (p.Glu31864Gly) c.77354A>G (p.Glu25785Gly) c.67208A>G (p.Glu22403Gly) | |
2 | g.178532156T>G | CA349411683 | TTN,TTN-AS1 | c.96755A>C (p.Glu32252Ala) c.77840A>C (p.Glu25947Ala) c.77639A>C (p.Glu25880Ala) c.77264A>C (p.Glu25755Ala) c.104459A>C (p.Glu34820Ala) c.99536A>C (p.Glu33179Ala) n.446+8520T>G n.220-3576T>G c.103556A>C (p.Glu34519Ala) c.77450A>C (p.Glu25817Ala) c.77309A>C (p.Glu25770Ala) c.103352A>C (p.Glu34451Ala) c.98750A>C (p.Glu32917Ala) c.98747A>C (p.Glu32916Ala) c.95789A>C (p.Glu31930Ala) c.77405A>C (p.Glu25802Ala) c.98900A>C (p.Glu32967Ala) c.98897A>C (p.Glu32966Ala) c.98330A>C (p.Glu32777Ala) c.95672A>C (p.Glu31891Ala) c.95591A>C (p.Glu31864Ala) c.77354A>C (p.Glu25785Ala) c.67208A>C (p.Glu22403Ala) | |
2 | g.178532157C>A | CA349411685 | TTN,TTN-AS1 | c.96754G>T (p.Glu32252Ter) c.77839G>T (p.Glu25947Ter) c.77638G>T (p.Glu25880Ter) c.77263G>T (p.Glu25755Ter) c.104458G>T (p.Glu34820Ter) c.99535G>T (p.Glu33179Ter) n.446+8521C>A n.220-3575C>A c.103555G>T (p.Glu34519Ter) c.77449G>T (p.Glu25817Ter) c.77308G>T (p.Glu25770Ter) c.103351G>T (p.Glu34451Ter) c.98749G>T (p.Glu32917Ter) c.98746G>T (p.Glu32916Ter) c.95788G>T (p.Glu31930Ter) c.77404G>T (p.Glu25802Ter) c.98899G>T (p.Glu32967Ter) c.98896G>T (p.Glu32966Ter) c.98329G>T (p.Glu32777Ter) c.95671G>T (p.Glu31891Ter) c.95590G>T (p.Glu31864Ter) c.77353G>T (p.Glu25785Ter) c.67207G>T (p.Glu22403Ter) | |
2 | g.178532157C= | CA1310518104 | TTN,TTN-AS1 | c.96754G= (p.Glu32252=) c.77839G= (p.Glu25947=) c.77638G= (p.Glu25880=) c.77263G= (p.Glu25755=) c.104458G= (p.Glu34820=) c.99535G= (p.Glu33179=) n.446+8521C= n.220-3575C= c.103555G= (p.Glu34519=) c.77449G= (p.Glu25817=) c.77308G= (p.Glu25770=) c.103351G= (p.Glu34451=) c.98749G= (p.Glu32917=) c.98746G= (p.Glu32916=) c.95788G= (p.Glu31930=) c.77404G= (p.Glu25802=) c.98899G= (p.Glu32967=) c.98896G= (p.Glu32966=) c.98329G= (p.Glu32777=) c.95671G= (p.Glu31891=) c.95590G= (p.Glu31864=) c.77353G= (p.Glu25785=) c.67207G= (p.Glu22403=) | |
2 | g.178532157C>G | CA349411684 | TTN,TTN-AS1 | c.96754G>C (p.Glu32252Gln) c.77839G>C (p.Glu25947Gln) c.77638G>C (p.Glu25880Gln) c.77263G>C (p.Glu25755Gln) c.104458G>C (p.Glu34820Gln) c.99535G>C (p.Glu33179Gln) n.446+8521C>G n.220-3575C>G c.103555G>C (p.Glu34519Gln) c.77449G>C (p.Glu25817Gln) c.77308G>C (p.Glu25770Gln) c.103351G>C (p.Glu34451Gln) c.98749G>C (p.Glu32917Gln) c.98746G>C (p.Glu32916Gln) c.95788G>C (p.Glu31930Gln) c.77404G>C (p.Glu25802Gln) c.98899G>C (p.Glu32967Gln) c.98896G>C (p.Glu32966Gln) c.98329G>C (p.Glu32777Gln) c.95671G>C (p.Glu31891Gln) c.95590G>C (p.Glu31864Gln) c.77353G>C (p.Glu25785Gln) c.67207G>C (p.Glu22403Gln) | |
2 | g.178532157C>T | CA1985423 | TTN,TTN-AS1 | c.96754G>A (p.Glu32252Lys) c.77839G>A (p.Glu25947Lys) c.77638G>A (p.Glu25880Lys) c.77263G>A (p.Glu25755Lys) c.104458G>A (p.Glu34820Lys) c.99535G>A (p.Glu33179Lys) n.446+8521C>T n.220-3575C>T c.103555G>A (p.Glu34519Lys) c.77449G>A (p.Glu25817Lys) c.77308G>A (p.Glu25770Lys) c.103351G>A (p.Glu34451Lys) c.98749G>A (p.Glu32917Lys) c.98746G>A (p.Glu32916Lys) c.95788G>A (p.Glu31930Lys) c.77404G>A (p.Glu25802Lys) c.98899G>A (p.Glu32967Lys) c.98896G>A (p.Glu32966Lys) c.98329G>A (p.Glu32777Lys) c.95671G>A (p.Glu31891Lys) c.95590G>A (p.Glu31864Lys) c.77353G>A (p.Glu25785Lys) c.67207G>A (p.Glu22403Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
2 | g.178532158G>A | CA291495 | TTN,TTN-AS1 | c.96753C>T (p.Tyr32251=) c.77838C>T (p.Tyr25946=) c.77637C>T (p.Tyr25879=) c.77262C>T (p.Tyr25754=) c.104457C>T (p.Tyr34819=) c.99534C>T (p.Tyr33178=) n.446+8522G>A n.220-3574G>A c.103554C>T (p.Tyr34518=) c.77448C>T (p.Tyr25816=) c.77307C>T (p.Tyr25769=) c.103350C>T (p.Tyr34450=) c.98748C>T (p.Tyr32916=) c.98745C>T (p.Tyr32915=) c.95787C>T (p.Tyr31929=) c.77403C>T (p.Tyr25801=) c.98898C>T (p.Tyr32966=) c.98895C>T (p.Tyr32965=) c.98328C>T (p.Tyr32776=) c.95670C>T (p.Tyr31890=) c.95589C>T (p.Tyr31863=) c.77352C>T (p.Tyr25784=) c.67206C>T (p.Tyr22402=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178532158G>C | CA349411686 | TTN,TTN-AS1 | c.96753C>G (p.Tyr32251Ter) c.77838C>G (p.Tyr25946Ter) c.77637C>G (p.Tyr25879Ter) c.77262C>G (p.Tyr25754Ter) c.104457C>G (p.Tyr34819Ter) c.99534C>G (p.Tyr33178Ter) n.446+8522G>C n.220-3574G>C c.103554C>G (p.Tyr34518Ter) c.77448C>G (p.Tyr25816Ter) c.77307C>G (p.Tyr25769Ter) c.103350C>G (p.Tyr34450Ter) c.98748C>G (p.Tyr32916Ter) c.98745C>G (p.Tyr32915Ter) c.95787C>G (p.Tyr31929Ter) c.77403C>G (p.Tyr25801Ter) c.98898C>G (p.Tyr32966Ter) c.98895C>G (p.Tyr32965Ter) c.98328C>G (p.Tyr32776Ter) c.95670C>G (p.Tyr31890Ter) c.95589C>G (p.Tyr31863Ter) c.77352C>G (p.Tyr25784Ter) c.67206C>G (p.Tyr22402Ter) | |
2 | g.178532158G= | CA1310518105 | TTN,TTN-AS1 | c.96753C= (p.Tyr32251=) c.77838C= (p.Tyr25946=) c.77637C= (p.Tyr25879=) c.77262C= (p.Tyr25754=) c.104457C= (p.Tyr34819=) c.99534C= (p.Tyr33178=) n.446+8522G= n.220-3574G= c.103554C= (p.Tyr34518=) c.77448C= (p.Tyr25816=) c.77307C= (p.Tyr25769=) c.103350C= (p.Tyr34450=) c.98748C= (p.Tyr32916=) c.98745C= (p.Tyr32915=) c.95787C= (p.Tyr31929=) c.77403C= (p.Tyr25801=) c.98898C= (p.Tyr32966=) c.98895C= (p.Tyr32965=) c.98328C= (p.Tyr32776=) c.95670C= (p.Tyr31890=) c.95589C= (p.Tyr31863=) c.77352C= (p.Tyr25784=) c.67206C= (p.Tyr22402=) | |
2 | g.178532158G>T | CA349411687 | TTN,TTN-AS1 | c.96753C>A (p.Tyr32251Ter) c.77838C>A (p.Tyr25946Ter) c.77637C>A (p.Tyr25879Ter) c.77262C>A (p.Tyr25754Ter) c.104457C>A (p.Tyr34819Ter) c.99534C>A (p.Tyr33178Ter) n.446+8522G>T n.220-3574G>T c.103554C>A (p.Tyr34518Ter) c.77448C>A (p.Tyr25816Ter) c.77307C>A (p.Tyr25769Ter) c.103350C>A (p.Tyr34450Ter) c.98748C>A (p.Tyr32916Ter) c.98745C>A (p.Tyr32915Ter) c.95787C>A (p.Tyr31929Ter) c.77403C>A (p.Tyr25801Ter) c.98898C>A (p.Tyr32966Ter) c.98895C>A (p.Tyr32965Ter) c.98328C>A (p.Tyr32776Ter) c.95670C>A (p.Tyr31890Ter) c.95589C>A (p.Tyr31863Ter) c.77352C>A (p.Tyr25784Ter) c.67206C>A (p.Tyr22402Ter) | ClinVar |
2 | g.178532159T>A | CA349411688 | TTN,TTN-AS1 | c.96752A>T (p.Tyr32251Phe) c.77837A>T (p.Tyr25946Phe) c.77636A>T (p.Tyr25879Phe) c.77261A>T (p.Tyr25754Phe) c.104456A>T (p.Tyr34819Phe) c.99533A>T (p.Tyr33178Phe) n.446+8523T>A n.220-3573T>A c.103553A>T (p.Tyr34518Phe) c.77447A>T (p.Tyr25816Phe) c.77306A>T (p.Tyr25769Phe) c.103349A>T (p.Tyr34450Phe) c.98747A>T (p.Tyr32916Phe) c.98744A>T (p.Tyr32915Phe) c.95786A>T (p.Tyr31929Phe) c.77402A>T (p.Tyr25801Phe) c.98897A>T (p.Tyr32966Phe) c.98894A>T (p.Tyr32965Phe) c.98327A>T (p.Tyr32776Phe) c.95669A>T (p.Tyr31890Phe) c.95588A>T (p.Tyr31863Phe) c.77351A>T (p.Tyr25784Phe) c.67205A>T (p.Tyr22402Phe) | |
2 | g.178532159T>C | CA349411689 | TTN,TTN-AS1 | c.96752A>G (p.Tyr32251Cys) c.77837A>G (p.Tyr25946Cys) c.77636A>G (p.Tyr25879Cys) c.77261A>G (p.Tyr25754Cys) c.104456A>G (p.Tyr34819Cys) c.99533A>G (p.Tyr33178Cys) n.446+8523T>C n.220-3573T>C c.103553A>G (p.Tyr34518Cys) c.77447A>G (p.Tyr25816Cys) c.77306A>G (p.Tyr25769Cys) c.103349A>G (p.Tyr34450Cys) c.98747A>G (p.Tyr32916Cys) c.98744A>G (p.Tyr32915Cys) c.95786A>G (p.Tyr31929Cys) c.77402A>G (p.Tyr25801Cys) c.98897A>G (p.Tyr32966Cys) c.98894A>G (p.Tyr32965Cys) c.98327A>G (p.Tyr32776Cys) c.95669A>G (p.Tyr31890Cys) c.95588A>G (p.Tyr31863Cys) c.77351A>G (p.Tyr25784Cys) c.67205A>G (p.Tyr22402Cys) | |
2 | g.178532159T>G | CA349411690 | TTN,TTN-AS1 | c.96752A>C (p.Tyr32251Ser) c.77837A>C (p.Tyr25946Ser) c.77636A>C (p.Tyr25879Ser) c.77261A>C (p.Tyr25754Ser) c.104456A>C (p.Tyr34819Ser) c.99533A>C (p.Tyr33178Ser) n.446+8523T>G n.220-3573T>G c.103553A>C (p.Tyr34518Ser) c.77447A>C (p.Tyr25816Ser) c.77306A>C (p.Tyr25769Ser) c.103349A>C (p.Tyr34450Ser) c.98747A>C (p.Tyr32916Ser) c.98744A>C (p.Tyr32915Ser) c.95786A>C (p.Tyr31929Ser) c.77402A>C (p.Tyr25801Ser) c.98897A>C (p.Tyr32966Ser) c.98894A>C (p.Tyr32965Ser) c.98327A>C (p.Tyr32776Ser) c.95669A>C (p.Tyr31890Ser) c.95588A>C (p.Tyr31863Ser) c.77351A>C (p.Tyr25784Ser) c.67205A>C (p.Tyr22402Ser) | |
2 | g.178532160A= | CA1310518107 | TTN,TTN-AS1 | c.96751T= (p.Tyr32251=) c.77836T= (p.Tyr25946=) c.77635T= (p.Tyr25879=) c.77260T= (p.Tyr25754=) c.104455T= (p.Tyr34819=) c.99532T= (p.Tyr33178=) n.446+8524A= n.220-3572A= c.103552T= (p.Tyr34518=) c.77446T= (p.Tyr25816=) c.77305T= (p.Tyr25769=) c.103348T= (p.Tyr34450=) c.98746T= (p.Tyr32916=) c.98743T= (p.Tyr32915=) c.95785T= (p.Tyr31929=) c.77401T= (p.Tyr25801=) c.98896T= (p.Tyr32966=) c.98893T= (p.Tyr32965=) c.98326T= (p.Tyr32776=) c.95668T= (p.Tyr31890=) c.95587T= (p.Tyr31863=) c.77350T= (p.Tyr25784=) c.67204T= (p.Tyr22402=) | |
2 | g.178532160A>C | CA349411691 | TTN,TTN-AS1 | c.96751T>G (p.Tyr32251Asp) c.77836T>G (p.Tyr25946Asp) c.77635T>G (p.Tyr25879Asp) c.77260T>G (p.Tyr25754Asp) c.104455T>G (p.Tyr34819Asp) c.99532T>G (p.Tyr33178Asp) n.446+8524A>C n.220-3572A>C c.103552T>G (p.Tyr34518Asp) c.77446T>G (p.Tyr25816Asp) c.77305T>G (p.Tyr25769Asp) c.103348T>G (p.Tyr34450Asp) c.98746T>G (p.Tyr32916Asp) c.98743T>G (p.Tyr32915Asp) c.95785T>G (p.Tyr31929Asp) c.77401T>G (p.Tyr25801Asp) c.98896T>G (p.Tyr32966Asp) c.98893T>G (p.Tyr32965Asp) c.98326T>G (p.Tyr32776Asp) c.95668T>G (p.Tyr31890Asp) c.95587T>G (p.Tyr31863Asp) c.77350T>G (p.Tyr25784Asp) c.67204T>G (p.Tyr22402Asp) | |
2 | g.178532160A>G | CA1985424 | TTN,TTN-AS1 | c.96751T>C (p.Tyr32251His) c.77836T>C (p.Tyr25946His) c.77635T>C (p.Tyr25879His) c.77260T>C (p.Tyr25754His) c.104455T>C (p.Tyr34819His) c.99532T>C (p.Tyr33178His) n.446+8524A>G n.220-3572A>G c.103552T>C (p.Tyr34518His) c.77446T>C (p.Tyr25816His) c.77305T>C (p.Tyr25769His) c.103348T>C (p.Tyr34450His) c.98746T>C (p.Tyr32916His) c.98743T>C (p.Tyr32915His) c.95785T>C (p.Tyr31929His) c.77401T>C (p.Tyr25801His) c.98896T>C (p.Tyr32966His) c.98893T>C (p.Tyr32965His) c.98326T>C (p.Tyr32776His) c.95668T>C (p.Tyr31890His) c.95587T>C (p.Tyr31863His) c.77350T>C (p.Tyr25784His) c.67204T>C (p.Tyr22402His) | ClinVar dbSNP ExAC gnomAD v4 |
2 | g.178532160A>T | CA349411692 | TTN,TTN-AS1 | c.96751T>A (p.Tyr32251Asn) c.77836T>A (p.Tyr25946Asn) c.77635T>A (p.Tyr25879Asn) c.77260T>A (p.Tyr25754Asn) c.104455T>A (p.Tyr34819Asn) c.99532T>A (p.Tyr33178Asn) n.446+8524A>T n.220-3572A>T c.103552T>A (p.Tyr34518Asn) c.77446T>A (p.Tyr25816Asn) c.77305T>A (p.Tyr25769Asn) c.103348T>A (p.Tyr34450Asn) c.98746T>A (p.Tyr32916Asn) c.98743T>A (p.Tyr32915Asn) c.95785T>A (p.Tyr31929Asn) c.77401T>A (p.Tyr25801Asn) c.98896T>A (p.Tyr32966Asn) c.98893T>A (p.Tyr32965Asn) c.98326T>A (p.Tyr32776Asn) c.95668T>A (p.Tyr31890Asn) c.95587T>A (p.Tyr31863Asn) c.77350T>A (p.Tyr25784Asn) c.67204T>A (p.Tyr22402Asn) | |
2 | g.178532160_178532163delinsATTC | CA1310518106 | TTN,TTN-AS1 | c.96748_96751delinsGAAT (p.Glu32250=) c.77833_77836delinsGAAT (p.Glu25945=) c.77632_77635delinsGAAT (p.Glu25878=) c.77257_77260delinsGAAT (p.Glu25753=) c.104452_104455delinsGAAT (p.Glu34818=) c.99529_99532delinsGAAT (p.Glu33177=) n.446+8524_446+8527delinsATTC n.220-3572_220-3569delinsATTC c.103549_103552delinsGAAT (p.Glu34517=) c.77443_77446delinsGAAT (p.Glu25815=) c.77302_77305delinsGAAT (p.Glu25768=) c.103345_103348delinsGAAT (p.Glu34449=) c.98743_98746delinsGAAT (p.Glu32915=) c.98740_98743delinsGAAT (p.Glu32914=) c.95782_95785delinsGAAT (p.Glu31928=) c.77398_77401delinsGAAT (p.Glu25800=) c.98893_98896delinsGAAT (p.Glu32965=) c.98890_98893delinsGAAT (p.Glu32964=) c.98323_98326delinsGAAT (p.Glu32775=) c.95665_95668delinsGAAT (p.Glu31889=) c.95584_95587delinsGAAT (p.Glu31862=) c.77347_77350delinsGAAT (p.Glu25783=) c.67201_67204delinsGAAT (p.Glu22401=) | |
2 | g.178532161T>A | CA349411693 | TTN,TTN-AS1 | c.96750A>T (p.Glu32250Asp) c.77835A>T (p.Glu25945Asp) c.77634A>T (p.Glu25878Asp) c.77259A>T (p.Glu25753Asp) c.104454A>T (p.Glu34818Asp) c.99531A>T (p.Glu33177Asp) n.446+8525T>A n.220-3571T>A c.103551A>T (p.Glu34517Asp) c.77445A>T (p.Glu25815Asp) c.77304A>T (p.Glu25768Asp) c.103347A>T (p.Glu34449Asp) c.98745A>T (p.Glu32915Asp) c.98742A>T (p.Glu32914Asp) c.95784A>T (p.Glu31928Asp) c.77400A>T (p.Glu25800Asp) c.98895A>T (p.Glu32965Asp) c.98892A>T (p.Glu32964Asp) c.98325A>T (p.Glu32775Asp) c.95667A>T (p.Glu31889Asp) c.95586A>T (p.Glu31862Asp) c.77349A>T (p.Glu25783Asp) c.67203A>T (p.Glu22401Asp) | |
2 | g.178532161T>C | CA430235902 | TTN,TTN-AS1 | c.96750A>G (p.Glu32250=) c.77835A>G (p.Glu25945=) c.77634A>G (p.Glu25878=) c.77259A>G (p.Glu25753=) c.104454A>G (p.Glu34818=) c.99531A>G (p.Glu33177=) n.446+8525T>C n.220-3571T>C c.103551A>G (p.Glu34517=) c.77445A>G (p.Glu25815=) c.77304A>G (p.Glu25768=) c.103347A>G (p.Glu34449=) c.98745A>G (p.Glu32915=) c.98742A>G (p.Glu32914=) c.95784A>G (p.Glu31928=) c.77400A>G (p.Glu25800=) c.98895A>G (p.Glu32965=) c.98892A>G (p.Glu32964=) c.98325A>G (p.Glu32775=) c.95667A>G (p.Glu31889=) c.95586A>G (p.Glu31862=) c.77349A>G (p.Glu25783=) c.67203A>G (p.Glu22401=) | |
2 | g.178532161T>G | CA349411694 | TTN,TTN-AS1 | c.96750A>C (p.Glu32250Asp) c.77835A>C (p.Glu25945Asp) c.77634A>C (p.Glu25878Asp) c.77259A>C (p.Glu25753Asp) c.104454A>C (p.Glu34818Asp) c.99531A>C (p.Glu33177Asp) n.446+8525T>G n.220-3571T>G c.103551A>C (p.Glu34517Asp) c.77445A>C (p.Glu25815Asp) c.77304A>C (p.Glu25768Asp) c.103347A>C (p.Glu34449Asp) c.98745A>C (p.Glu32915Asp) c.98742A>C (p.Glu32914Asp) c.95784A>C (p.Glu31928Asp) c.77400A>C (p.Glu25800Asp) c.98895A>C (p.Glu32965Asp) c.98892A>C (p.Glu32964Asp) c.98325A>C (p.Glu32775Asp) c.95667A>C (p.Glu31889Asp) c.95586A>C (p.Glu31862Asp) c.77349A>C (p.Glu25783Asp) c.67203A>C (p.Glu22401Asp) | |
2 | g.178532164_178532166del | CA1985425 | TTN,TTN-AS1 | c.96748_96750del (p.Glu32250del) c.77833_77835del (p.Glu25945del) c.77632_77634del (p.Glu25878del) c.77257_77259del (p.Glu25753del) c.104452_104454del (p.Glu34818del) c.99529_99531del (p.Glu33177del) n.446+8528_446+8530del n.220-3568_220-3566del c.103549_103551del (p.Glu34517del) c.77443_77445del (p.Glu25815del) c.77302_77304del (p.Glu25768del) c.103345_103347del (p.Glu34449del) c.98743_98745del (p.Glu32915del) c.98740_98742del (p.Glu32914del) c.95782_95784del (p.Glu31928del) c.77398_77400del (p.Glu25800del) c.98893_98895del (p.Glu32965del) c.98890_98892del (p.Glu32964del) c.98323_98325del (p.Glu32775del) c.95665_95667del (p.Glu31889del) c.95584_95586del (p.Glu31862del) c.77347_77349del (p.Glu25783del) c.67201_67203del (p.Glu22401del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178532162T>A | CA349411695 | TTN,TTN-AS1 | c.96749A>T (p.Glu32250Val) c.77834A>T (p.Glu25945Val) c.77633A>T (p.Glu25878Val) c.77258A>T (p.Glu25753Val) c.104453A>T (p.Glu34818Val) c.99530A>T (p.Glu33177Val) n.446+8526T>A n.220-3570T>A c.103550A>T (p.Glu34517Val) c.77444A>T (p.Glu25815Val) c.77303A>T (p.Glu25768Val) c.103346A>T (p.Glu34449Val) c.98744A>T (p.Glu32915Val) c.98741A>T (p.Glu32914Val) c.95783A>T (p.Glu31928Val) c.77399A>T (p.Glu25800Val) c.98894A>T (p.Glu32965Val) c.98891A>T (p.Glu32964Val) c.98324A>T (p.Glu32775Val) c.95666A>T (p.Glu31889Val) c.95585A>T (p.Glu31862Val) c.77348A>T (p.Glu25783Val) c.67202A>T (p.Glu22401Val) | |
2 | g.178532162T>C | CA349411696 | TTN,TTN-AS1 | c.96749A>G (p.Glu32250Gly) c.77834A>G (p.Glu25945Gly) c.77633A>G (p.Glu25878Gly) c.77258A>G (p.Glu25753Gly) c.104453A>G (p.Glu34818Gly) c.99530A>G (p.Glu33177Gly) n.446+8526T>C n.220-3570T>C c.103550A>G (p.Glu34517Gly) c.77444A>G (p.Glu25815Gly) c.77303A>G (p.Glu25768Gly) c.103346A>G (p.Glu34449Gly) c.98744A>G (p.Glu32915Gly) c.98741A>G (p.Glu32914Gly) c.95783A>G (p.Glu31928Gly) c.77399A>G (p.Glu25800Gly) c.98894A>G (p.Glu32965Gly) c.98891A>G (p.Glu32964Gly) c.98324A>G (p.Glu32775Gly) c.95666A>G (p.Glu31889Gly) c.95585A>G (p.Glu31862Gly) c.77348A>G (p.Glu25783Gly) c.67202A>G (p.Glu22401Gly) | gnomAD v4 |
2 | g.178532162T>G | CA349411698 | TTN,TTN-AS1 | c.96749A>C (p.Glu32250Ala) c.77834A>C (p.Glu25945Ala) c.77633A>C (p.Glu25878Ala) c.77258A>C (p.Glu25753Ala) c.104453A>C (p.Glu34818Ala) c.99530A>C (p.Glu33177Ala) n.446+8526T>G n.220-3570T>G c.103550A>C (p.Glu34517Ala) c.77444A>C (p.Glu25815Ala) c.77303A>C (p.Glu25768Ala) c.103346A>C (p.Glu34449Ala) c.98744A>C (p.Glu32915Ala) c.98741A>C (p.Glu32914Ala) c.95783A>C (p.Glu31928Ala) c.77399A>C (p.Glu25800Ala) c.98894A>C (p.Glu32965Ala) c.98891A>C (p.Glu32964Ala) c.98324A>C (p.Glu32775Ala) c.95666A>C (p.Glu31889Ala) c.95585A>C (p.Glu31862Ala) c.77348A>C (p.Glu25783Ala) c.67202A>C (p.Glu22401Ala) | |
2 | g.178532163C>A | CA349411699 | TTN,TTN-AS1 | c.96748G>T (p.Glu32250Ter) c.77833G>T (p.Glu25945Ter) c.77632G>T (p.Glu25878Ter) c.77257G>T (p.Glu25753Ter) c.104452G>T (p.Glu34818Ter) c.99529G>T (p.Glu33177Ter) n.446+8527C>A n.220-3569C>A c.103549G>T (p.Glu34517Ter) c.77443G>T (p.Glu25815Ter) c.77302G>T (p.Glu25768Ter) c.103345G>T (p.Glu34449Ter) c.98743G>T (p.Glu32915Ter) c.98740G>T (p.Glu32914Ter) c.95782G>T (p.Glu31928Ter) c.77398G>T (p.Glu25800Ter) c.98893G>T (p.Glu32965Ter) c.98890G>T (p.Glu32964Ter) c.98323G>T (p.Glu32775Ter) c.95665G>T (p.Glu31889Ter) c.95584G>T (p.Glu31862Ter) c.77347G>T (p.Glu25783Ter) c.67201G>T (p.Glu22401Ter) | |
2 | g.178532163C>G | CA349411700 | TTN,TTN-AS1 | c.96748G>C (p.Glu32250Gln) c.77833G>C (p.Glu25945Gln) c.77632G>C (p.Glu25878Gln) c.77257G>C (p.Glu25753Gln) c.104452G>C (p.Glu34818Gln) c.99529G>C (p.Glu33177Gln) n.446+8527C>G n.220-3569C>G c.103549G>C (p.Glu34517Gln) c.77443G>C (p.Glu25815Gln) c.77302G>C (p.Glu25768Gln) c.103345G>C (p.Glu34449Gln) c.98743G>C (p.Glu32915Gln) c.98740G>C (p.Glu32914Gln) c.95782G>C (p.Glu31928Gln) c.77398G>C (p.Glu25800Gln) c.98893G>C (p.Glu32965Gln) c.98890G>C (p.Glu32964Gln) c.98323G>C (p.Glu32775Gln) c.95665G>C (p.Glu31889Gln) c.95584G>C (p.Glu31862Gln) c.77347G>C (p.Glu25783Gln) c.67201G>C (p.Glu22401Gln) | |
2 | g.178532163C>T | CA349411701 | TTN,TTN-AS1 | c.96748G>A (p.Glu32250Lys) c.77833G>A (p.Glu25945Lys) c.77632G>A (p.Glu25878Lys) c.77257G>A (p.Glu25753Lys) c.104452G>A (p.Glu34818Lys) c.99529G>A (p.Glu33177Lys) n.446+8527C>T n.220-3569C>T c.103549G>A (p.Glu34517Lys) c.77443G>A (p.Glu25815Lys) c.77302G>A (p.Glu25768Lys) c.103345G>A (p.Glu34449Lys) c.98743G>A (p.Glu32915Lys) c.98740G>A (p.Glu32914Lys) c.95782G>A (p.Glu31928Lys) c.77398G>A (p.Glu25800Lys) c.98893G>A (p.Glu32965Lys) c.98890G>A (p.Glu32964Lys) c.98323G>A (p.Glu32775Lys) c.95665G>A (p.Glu31889Lys) c.95584G>A (p.Glu31862Lys) c.77347G>A (p.Glu25783Lys) c.67201G>A (p.Glu22401Lys) | |
2 | g.178532164T>A | CA349411702 | TTN,TTN-AS1 | c.96747A>T (p.Glu32249Asp) c.77832A>T (p.Glu25944Asp) c.77631A>T (p.Glu25877Asp) c.77256A>T (p.Glu25752Asp) c.104451A>T (p.Glu34817Asp) c.99528A>T (p.Glu33176Asp) n.446+8528T>A n.220-3568T>A c.103548A>T (p.Glu34516Asp) c.77442A>T (p.Glu25814Asp) c.77301A>T (p.Glu25767Asp) c.103344A>T (p.Glu34448Asp) c.98742A>T (p.Glu32914Asp) c.98739A>T (p.Glu32913Asp) c.95781A>T (p.Glu31927Asp) c.77397A>T (p.Glu25799Asp) c.98892A>T (p.Glu32964Asp) c.98889A>T (p.Glu32963Asp) c.98322A>T (p.Glu32774Asp) c.95664A>T (p.Glu31888Asp) c.95583A>T (p.Glu31861Asp) c.77346A>T (p.Glu25782Asp) c.67200A>T (p.Glu22400Asp) | |
2 | g.178532164T>C | CA430235903 | TTN,TTN-AS1 | c.96747A>G (p.Glu32249=) c.77832A>G (p.Glu25944=) c.77631A>G (p.Glu25877=) c.77256A>G (p.Glu25752=) c.104451A>G (p.Glu34817=) c.99528A>G (p.Glu33176=) n.446+8528T>C n.220-3568T>C c.103548A>G (p.Glu34516=) c.77442A>G (p.Glu25814=) c.77301A>G (p.Glu25767=) c.103344A>G (p.Glu34448=) c.98742A>G (p.Glu32914=) c.98739A>G (p.Glu32913=) c.95781A>G (p.Glu31927=) c.77397A>G (p.Glu25799=) c.98892A>G (p.Glu32964=) c.98889A>G (p.Glu32963=) c.98322A>G (p.Glu32774=) c.95664A>G (p.Glu31888=) c.95583A>G (p.Glu31861=) c.77346A>G (p.Glu25782=) c.67200A>G (p.Glu22400=) | |
2 | g.178532164T>G | CA349411703 | TTN,TTN-AS1 | c.96747A>C (p.Glu32249Asp) c.77832A>C (p.Glu25944Asp) c.77631A>C (p.Glu25877Asp) c.77256A>C (p.Glu25752Asp) c.104451A>C (p.Glu34817Asp) c.99528A>C (p.Glu33176Asp) n.446+8528T>G n.220-3568T>G c.103548A>C (p.Glu34516Asp) c.77442A>C (p.Glu25814Asp) c.77301A>C (p.Glu25767Asp) c.103344A>C (p.Glu34448Asp) c.98742A>C (p.Glu32914Asp) c.98739A>C (p.Glu32913Asp) c.95781A>C (p.Glu31927Asp) c.77397A>C (p.Glu25799Asp) c.98892A>C (p.Glu32964Asp) c.98889A>C (p.Glu32963Asp) c.98322A>C (p.Glu32774Asp) c.95664A>C (p.Glu31888Asp) c.95583A>C (p.Glu31861Asp) c.77346A>C (p.Glu25782Asp) c.67200A>C (p.Glu22400Asp) | |
2 | g.178532165T>A | CA349411704 | TTN,TTN-AS1 | c.96746A>T (p.Glu32249Val) c.77831A>T (p.Glu25944Val) c.77630A>T (p.Glu25877Val) c.77255A>T (p.Glu25752Val) c.104450A>T (p.Glu34817Val) c.99527A>T (p.Glu33176Val) n.446+8529T>A n.220-3567T>A c.103547A>T (p.Glu34516Val) c.77441A>T (p.Glu25814Val) c.77300A>T (p.Glu25767Val) c.103343A>T (p.Glu34448Val) c.98741A>T (p.Glu32914Val) c.98738A>T (p.Glu32913Val) c.95780A>T (p.Glu31927Val) c.77396A>T (p.Glu25799Val) c.98891A>T (p.Glu32964Val) c.98888A>T (p.Glu32963Val) c.98321A>T (p.Glu32774Val) c.95663A>T (p.Glu31888Val) c.95582A>T (p.Glu31861Val) c.77345A>T (p.Glu25782Val) c.67199A>T (p.Glu22400Val) | |
2 | g.178532165T>C | CA349411706 | TTN,TTN-AS1 | c.96746A>G (p.Glu32249Gly) c.77831A>G (p.Glu25944Gly) c.77630A>G (p.Glu25877Gly) c.77255A>G (p.Glu25752Gly) c.104450A>G (p.Glu34817Gly) c.99527A>G (p.Glu33176Gly) n.446+8529T>C n.220-3567T>C c.103547A>G (p.Glu34516Gly) c.77441A>G (p.Glu25814Gly) c.77300A>G (p.Glu25767Gly) c.103343A>G (p.Glu34448Gly) c.98741A>G (p.Glu32914Gly) c.98738A>G (p.Glu32913Gly) c.95780A>G (p.Glu31927Gly) c.77396A>G (p.Glu25799Gly) c.98891A>G (p.Glu32964Gly) c.98888A>G (p.Glu32963Gly) c.98321A>G (p.Glu32774Gly) c.95663A>G (p.Glu31888Gly) c.95582A>G (p.Glu31861Gly) c.77345A>G (p.Glu25782Gly) c.67199A>G (p.Glu22400Gly) | ClinVar |
2 | g.178532165T>G | CA349411705 | TTN,TTN-AS1 | c.96746A>C (p.Glu32249Ala) c.77831A>C (p.Glu25944Ala) c.77630A>C (p.Glu25877Ala) c.77255A>C (p.Glu25752Ala) c.104450A>C (p.Glu34817Ala) c.99527A>C (p.Glu33176Ala) n.446+8529T>G n.220-3567T>G c.103547A>C (p.Glu34516Ala) c.77441A>C (p.Glu25814Ala) c.77300A>C (p.Glu25767Ala) c.103343A>C (p.Glu34448Ala) c.98741A>C (p.Glu32914Ala) c.98738A>C (p.Glu32913Ala) c.95780A>C (p.Glu31927Ala) c.77396A>C (p.Glu25799Ala) c.98891A>C (p.Glu32964Ala) c.98888A>C (p.Glu32963Ala) c.98321A>C (p.Glu32774Ala) c.95663A>C (p.Glu31888Ala) c.95582A>C (p.Glu31861Ala) c.77345A>C (p.Glu25782Ala) c.67199A>C (p.Glu22400Ala) | |
2 | g.178532167_178532169dup | CA2740095956 | TTN,TTN-AS1 | c.96744_96746dup (p.Glu32249_Glu32250insGlu) c.77829_77831dup (p.Glu25944_Glu25945insGlu) c.77628_77630dup (p.Glu25877_Glu25878insGlu) c.77253_77255dup (p.Glu25752_Glu25753insGlu) c.104448_104450dup (p.Glu34817_Glu34818insGlu) c.99525_99527dup (p.Glu33176_Glu33177insGlu) n.446+8531_446+8533dup n.220-3565_220-3563dup c.103545_103547dup (p.Glu34516_Glu34517insGlu) c.77439_77441dup (p.Glu25814_Glu25815insGlu) c.77298_77300dup (p.Glu25767_Glu25768insGlu) c.103341_103343dup (p.Glu34448_Glu34449insGlu) c.98739_98741dup (p.Glu32914_Glu32915insGlu) c.98736_98738dup (p.Glu32913_Glu32914insGlu) c.95778_95780dup (p.Glu31927_Glu31928insGlu) c.77394_77396dup (p.Glu25799_Glu25800insGlu) c.98889_98891dup (p.Glu32964_Glu32965insGlu) c.98886_98888dup (p.Glu32963_Glu32964insGlu) c.98319_98321dup (p.Glu32774_Glu32775insGlu) c.95661_95663dup (p.Glu31888_Glu31889insGlu) c.95580_95582dup (p.Glu31861_Glu31862insGlu) c.77343_77345dup (p.Glu25782_Glu25783insGlu) c.67197_67199dup (p.Glu22400_Glu22401insGlu) | ClinVar |
2 | g.178532166C>A | CA349411707 | TTN,TTN-AS1 | c.96745G>T (p.Glu32249Ter) c.77830G>T (p.Glu25944Ter) c.77629G>T (p.Glu25877Ter) c.77254G>T (p.Glu25752Ter) c.104449G>T (p.Glu34817Ter) c.99526G>T (p.Glu33176Ter) n.446+8530C>A n.220-3566C>A c.103546G>T (p.Glu34516Ter) c.77440G>T (p.Glu25814Ter) c.77299G>T (p.Glu25767Ter) c.103342G>T (p.Glu34448Ter) c.98740G>T (p.Glu32914Ter) c.98737G>T (p.Glu32913Ter) c.95779G>T (p.Glu31927Ter) c.77395G>T (p.Glu25799Ter) c.98890G>T (p.Glu32964Ter) c.98887G>T (p.Glu32963Ter) c.98320G>T (p.Glu32774Ter) c.95662G>T (p.Glu31888Ter) c.95581G>T (p.Glu31861Ter) c.77344G>T (p.Glu25782Ter) c.67198G>T (p.Glu22400Ter) | |
2 | g.178532166C= | CA1310518108 | TTN,TTN-AS1 | c.96745G= (p.Glu32249=) c.77830G= (p.Glu25944=) c.77629G= (p.Glu25877=) c.77254G= (p.Glu25752=) c.104449G= (p.Glu34817=) c.99526G= (p.Glu33176=) n.446+8530C= n.220-3566C= c.103546G= (p.Glu34516=) c.77440G= (p.Glu25814=) c.77299G= (p.Glu25767=) c.103342G= (p.Glu34448=) c.98740G= (p.Glu32914=) c.98737G= (p.Glu32913=) c.95779G= (p.Glu31927=) c.77395G= (p.Glu25799=) c.98890G= (p.Glu32964=) c.98887G= (p.Glu32963=) c.98320G= (p.Glu32774=) c.95662G= (p.Glu31888=) c.95581G= (p.Glu31861=) c.77344G= (p.Glu25782=) c.67198G= (p.Glu22400=) | |
2 | g.178532166C>G | CA349411709 | TTN,TTN-AS1 | c.96745G>C (p.Glu32249Gln) c.77830G>C (p.Glu25944Gln) c.77629G>C (p.Glu25877Gln) c.77254G>C (p.Glu25752Gln) c.104449G>C (p.Glu34817Gln) c.99526G>C (p.Glu33176Gln) n.446+8530C>G n.220-3566C>G c.103546G>C (p.Glu34516Gln) c.77440G>C (p.Glu25814Gln) c.77299G>C (p.Glu25767Gln) c.103342G>C (p.Glu34448Gln) c.98740G>C (p.Glu32914Gln) c.98737G>C (p.Glu32913Gln) c.95779G>C (p.Glu31927Gln) c.77395G>C (p.Glu25799Gln) c.98890G>C (p.Glu32964Gln) c.98887G>C (p.Glu32963Gln) c.98320G>C (p.Glu32774Gln) c.95662G>C (p.Glu31888Gln) c.95581G>C (p.Glu31861Gln) c.77344G>C (p.Glu25782Gln) c.67198G>C (p.Glu22400Gln) | |
2 | g.178532166C>T | CA349411708 | TTN,TTN-AS1 | c.96745G>A (p.Glu32249Lys) c.77830G>A (p.Glu25944Lys) c.77629G>A (p.Glu25877Lys) c.77254G>A (p.Glu25752Lys) c.104449G>A (p.Glu34817Lys) c.99526G>A (p.Glu33176Lys) n.446+8530C>T n.220-3566C>T c.103546G>A (p.Glu34516Lys) c.77440G>A (p.Glu25814Lys) c.77299G>A (p.Glu25767Lys) c.103342G>A (p.Glu34448Lys) c.98740G>A (p.Glu32914Lys) c.98737G>A (p.Glu32913Lys) c.95779G>A (p.Glu31927Lys) c.77395G>A (p.Glu25799Lys) c.98890G>A (p.Glu32964Lys) c.98887G>A (p.Glu32963Lys) c.98320G>A (p.Glu32774Lys) c.95662G>A (p.Glu31888Lys) c.95581G>A (p.Glu31861Lys) c.77344G>A (p.Glu25782Lys) c.67198G>A (p.Glu22400Lys) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
2 | g.178532167C>A | CA349411710 | TTN,TTN-AS1 | c.96744G>T (p.Glu32248Asp) c.77829G>T (p.Glu25943Asp) c.77628G>T (p.Glu25876Asp) c.77253G>T (p.Glu25751Asp) c.104448G>T (p.Glu34816Asp) c.99525G>T (p.Glu33175Asp) n.446+8531C>A n.220-3565C>A c.103545G>T (p.Glu34515Asp) c.77439G>T (p.Glu25813Asp) c.77298G>T (p.Glu25766Asp) c.103341G>T (p.Glu34447Asp) c.98739G>T (p.Glu32913Asp) c.98736G>T (p.Glu32912Asp) c.95778G>T (p.Glu31926Asp) c.77394G>T (p.Glu25798Asp) c.98889G>T (p.Glu32963Asp) c.98886G>T (p.Glu32962Asp) c.98319G>T (p.Glu32773Asp) c.95661G>T (p.Glu31887Asp) c.95580G>T (p.Glu31860Asp) c.77343G>T (p.Glu25781Asp) c.67197G>T (p.Glu22399Asp) | |
2 | g.178532167C= | CA1310518109 | TTN,TTN-AS1 | c.96744G= (p.Glu32248=) c.77829G= (p.Glu25943=) c.77628G= (p.Glu25876=) c.77253G= (p.Glu25751=) c.104448G= (p.Glu34816=) c.99525G= (p.Glu33175=) n.446+8531C= n.220-3565C= c.103545G= (p.Glu34515=) c.77439G= (p.Glu25813=) c.77298G= (p.Glu25766=) c.103341G= (p.Glu34447=) c.98739G= (p.Glu32913=) c.98736G= (p.Glu32912=) c.95778G= (p.Glu31926=) c.77394G= (p.Glu25798=) c.98889G= (p.Glu32963=) c.98886G= (p.Glu32962=) c.98319G= (p.Glu32773=) c.95661G= (p.Glu31887=) c.95580G= (p.Glu31860=) c.77343G= (p.Glu25781=) c.67197G= (p.Glu22399=) | |
2 | g.178532167C>G | CA349411711 | TTN,TTN-AS1 | c.96744G>C (p.Glu32248Asp) c.77829G>C (p.Glu25943Asp) c.77628G>C (p.Glu25876Asp) c.77253G>C (p.Glu25751Asp) c.104448G>C (p.Glu34816Asp) c.99525G>C (p.Glu33175Asp) n.446+8531C>G n.220-3565C>G c.103545G>C (p.Glu34515Asp) c.77439G>C (p.Glu25813Asp) c.77298G>C (p.Glu25766Asp) c.103341G>C (p.Glu34447Asp) c.98739G>C (p.Glu32913Asp) c.98736G>C (p.Glu32912Asp) c.95778G>C (p.Glu31926Asp) c.77394G>C (p.Glu25798Asp) c.98889G>C (p.Glu32963Asp) c.98886G>C (p.Glu32962Asp) c.98319G>C (p.Glu32773Asp) c.95661G>C (p.Glu31887Asp) c.95580G>C (p.Glu31860Asp) c.77343G>C (p.Glu25781Asp) c.67197G>C (p.Glu22399Asp) | ClinVar dbSNP |
2 | g.178532167C>T | CA430235904 | TTN,TTN-AS1 | c.96744G>A (p.Glu32248=) c.77829G>A (p.Glu25943=) c.77628G>A (p.Glu25876=) c.77253G>A (p.Glu25751=) c.104448G>A (p.Glu34816=) c.99525G>A (p.Glu33175=) n.446+8531C>T n.220-3565C>T c.103545G>A (p.Glu34515=) c.77439G>A (p.Glu25813=) c.77298G>A (p.Glu25766=) c.103341G>A (p.Glu34447=) c.98739G>A (p.Glu32913=) c.98736G>A (p.Glu32912=) c.95778G>A (p.Glu31926=) c.77394G>A (p.Glu25798=) c.98889G>A (p.Glu32963=) c.98886G>A (p.Glu32962=) c.98319G>A (p.Glu32773=) c.95661G>A (p.Glu31887=) c.95580G>A (p.Glu31860=) c.77343G>A (p.Glu25781=) c.67197G>A (p.Glu22399=) | |
2 | g.178532168T>A | CA349411712 | TTN,TTN-AS1 | c.96743A>T (p.Glu32248Val) c.77828A>T (p.Glu25943Val) c.77627A>T (p.Glu25876Val) c.77252A>T (p.Glu25751Val) c.104447A>T (p.Glu34816Val) c.99524A>T (p.Glu33175Val) n.446+8532T>A n.220-3564T>A c.103544A>T (p.Glu34515Val) c.77438A>T (p.Glu25813Val) c.77297A>T (p.Glu25766Val) c.103340A>T (p.Glu34447Val) c.98738A>T (p.Glu32913Val) c.98735A>T (p.Glu32912Val) c.95777A>T (p.Glu31926Val) c.77393A>T (p.Glu25798Val) c.98888A>T (p.Glu32963Val) c.98885A>T (p.Glu32962Val) c.98318A>T (p.Glu32773Val) c.95660A>T (p.Glu31887Val) c.95579A>T (p.Glu31860Val) c.77342A>T (p.Glu25781Val) c.67196A>T (p.Glu22399Val) | |
2 | g.178532168T>C | CA1985426 | TTN,TTN-AS1 | c.96743A>G (p.Glu32248Gly) c.77828A>G (p.Glu25943Gly) c.77627A>G (p.Glu25876Gly) c.77252A>G (p.Glu25751Gly) c.104447A>G (p.Glu34816Gly) c.99524A>G (p.Glu33175Gly) n.446+8532T>C n.220-3564T>C c.103544A>G (p.Glu34515Gly) c.77438A>G (p.Glu25813Gly) c.77297A>G (p.Glu25766Gly) c.103340A>G (p.Glu34447Gly) c.98738A>G (p.Glu32913Gly) c.98735A>G (p.Glu32912Gly) c.95777A>G (p.Glu31926Gly) c.77393A>G (p.Glu25798Gly) c.98888A>G (p.Glu32963Gly) c.98885A>G (p.Glu32962Gly) c.98318A>G (p.Glu32773Gly) c.95660A>G (p.Glu31887Gly) c.95579A>G (p.Glu31860Gly) c.77342A>G (p.Glu25781Gly) c.67196A>G (p.Glu22399Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178532168T>G | CA349411713 | TTN,TTN-AS1 | c.96743A>C (p.Glu32248Ala) c.77828A>C (p.Glu25943Ala) c.77627A>C (p.Glu25876Ala) c.77252A>C (p.Glu25751Ala) c.104447A>C (p.Glu34816Ala) c.99524A>C (p.Glu33175Ala) n.446+8532T>G n.220-3564T>G c.103544A>C (p.Glu34515Ala) c.77438A>C (p.Glu25813Ala) c.77297A>C (p.Glu25766Ala) c.103340A>C (p.Glu34447Ala) c.98738A>C (p.Glu32913Ala) c.98735A>C (p.Glu32912Ala) c.95777A>C (p.Glu31926Ala) c.77393A>C (p.Glu25798Ala) c.98888A>C (p.Glu32963Ala) c.98885A>C (p.Glu32962Ala) c.98318A>C (p.Glu32773Ala) c.95660A>C (p.Glu31887Ala) c.95579A>C (p.Glu31860Ala) c.77342A>C (p.Glu25781Ala) c.67196A>C (p.Glu22399Ala) | |
2 | g.178532168T= | CA1310518110 | TTN,TTN-AS1 | c.96743A= (p.Glu32248=) c.77828A= (p.Glu25943=) c.77627A= (p.Glu25876=) c.77252A= (p.Glu25751=) c.104447A= (p.Glu34816=) c.99524A= (p.Glu33175=) n.446+8532T= n.220-3564T= c.103544A= (p.Glu34515=) c.77438A= (p.Glu25813=) c.77297A= (p.Glu25766=) c.103340A= (p.Glu34447=) c.98738A= (p.Glu32913=) c.98735A= (p.Glu32912=) c.95777A= (p.Glu31926=) c.77393A= (p.Glu25798=) c.98888A= (p.Glu32963=) c.98885A= (p.Glu32962=) c.98318A= (p.Glu32773=) c.95660A= (p.Glu31887=) c.95579A= (p.Glu31860=) c.77342A= (p.Glu25781=) c.67196A= (p.Glu22399=) | |
2 | g.178532169C>A | CA349411714 | TTN,TTN-AS1 | c.96742G>T (p.Glu32248Ter) c.77827G>T (p.Glu25943Ter) c.77626G>T (p.Glu25876Ter) c.77251G>T (p.Glu25751Ter) c.104446G>T (p.Glu34816Ter) c.99523G>T (p.Glu33175Ter) n.446+8533C>A n.220-3563C>A c.103543G>T (p.Glu34515Ter) c.77437G>T (p.Glu25813Ter) c.77296G>T (p.Glu25766Ter) c.103339G>T (p.Glu34447Ter) c.98737G>T (p.Glu32913Ter) c.98734G>T (p.Glu32912Ter) c.95776G>T (p.Glu31926Ter) c.77392G>T (p.Glu25798Ter) c.98887G>T (p.Glu32963Ter) c.98884G>T (p.Glu32962Ter) c.98317G>T (p.Glu32773Ter) c.95659G>T (p.Glu31887Ter) c.95578G>T (p.Glu31860Ter) c.77341G>T (p.Glu25781Ter) c.67195G>T (p.Glu22399Ter) | |
2 | g.178532169C>G | CA349411715 | TTN,TTN-AS1 | c.96742G>C (p.Glu32248Gln) c.77827G>C (p.Glu25943Gln) c.77626G>C (p.Glu25876Gln) c.77251G>C (p.Glu25751Gln) c.104446G>C (p.Glu34816Gln) c.99523G>C (p.Glu33175Gln) n.446+8533C>G n.220-3563C>G c.103543G>C (p.Glu34515Gln) c.77437G>C (p.Glu25813Gln) c.77296G>C (p.Glu25766Gln) c.103339G>C (p.Glu34447Gln) c.98737G>C (p.Glu32913Gln) c.98734G>C (p.Glu32912Gln) c.95776G>C (p.Glu31926Gln) c.77392G>C (p.Glu25798Gln) c.98887G>C (p.Glu32963Gln) c.98884G>C (p.Glu32962Gln) c.98317G>C (p.Glu32773Gln) c.95659G>C (p.Glu31887Gln) c.95578G>C (p.Glu31860Gln) c.77341G>C (p.Glu25781Gln) c.67195G>C (p.Glu22399Gln) | |
2 | g.178532169C>T | CA349411716 | TTN,TTN-AS1 | c.96742G>A (p.Glu32248Lys) c.77827G>A (p.Glu25943Lys) c.77626G>A (p.Glu25876Lys) c.77251G>A (p.Glu25751Lys) c.104446G>A (p.Glu34816Lys) c.99523G>A (p.Glu33175Lys) n.446+8533C>T n.220-3563C>T c.103543G>A (p.Glu34515Lys) c.77437G>A (p.Glu25813Lys) c.77296G>A (p.Glu25766Lys) c.103339G>A (p.Glu34447Lys) c.98737G>A (p.Glu32913Lys) c.98734G>A (p.Glu32912Lys) c.95776G>A (p.Glu31926Lys) c.77392G>A (p.Glu25798Lys) c.98887G>A (p.Glu32963Lys) c.98884G>A (p.Glu32962Lys) c.98317G>A (p.Glu32773Lys) c.95659G>A (p.Glu31887Lys) c.95578G>A (p.Glu31860Lys) c.77341G>A (p.Glu25781Lys) c.67195G>A (p.Glu22399Lys) | dbSNP gnomAD v4 |
2 | g.178532170A>C | CA349411717 | TTN,TTN-AS1 | c.96741T>G (p.Ile32247Met) c.77826T>G (p.Ile25942Met) c.77625T>G (p.Ile25875Met) c.77250T>G (p.Ile25750Met) c.104445T>G (p.Ile34815Met) c.99522T>G (p.Ile33174Met) n.446+8534A>C n.220-3562A>C c.103542T>G (p.Ile34514Met) c.77436T>G (p.Ile25812Met) c.77295T>G (p.Ile25765Met) c.103338T>G (p.Ile34446Met) c.98736T>G (p.Ile32912Met) c.98733T>G (p.Ile32911Met) c.95775T>G (p.Ile31925Met) c.77391T>G (p.Ile25797Met) c.98886T>G (p.Ile32962Met) c.98883T>G (p.Ile32961Met) c.98316T>G (p.Ile32772Met) c.95658T>G (p.Ile31886Met) c.95577T>G (p.Ile31859Met) c.77340T>G (p.Ile25780Met) c.67194T>G (p.Ile22398Met) | |
2 | g.178532170A>G | CA430235905 | TTN,TTN-AS1 | c.96741T>C (p.Ile32247=) c.77826T>C (p.Ile25942=) c.77625T>C (p.Ile25875=) c.77250T>C (p.Ile25750=) c.104445T>C (p.Ile34815=) c.99522T>C (p.Ile33174=) n.446+8534A>G n.220-3562A>G c.103542T>C (p.Ile34514=) c.77436T>C (p.Ile25812=) c.77295T>C (p.Ile25765=) c.103338T>C (p.Ile34446=) c.98736T>C (p.Ile32912=) c.98733T>C (p.Ile32911=) c.95775T>C (p.Ile31925=) c.77391T>C (p.Ile25797=) c.98886T>C (p.Ile32962=) c.98883T>C (p.Ile32961=) c.98316T>C (p.Ile32772=) c.95658T>C (p.Ile31886=) c.95577T>C (p.Ile31859=) c.77340T>C (p.Ile25780=) c.67194T>C (p.Ile22398=) | |
2 | g.178532170A>T | CA430235906 | TTN,TTN-AS1 | c.96741T>A (p.Ile32247=) c.77826T>A (p.Ile25942=) c.77625T>A (p.Ile25875=) c.77250T>A (p.Ile25750=) c.104445T>A (p.Ile34815=) c.99522T>A (p.Ile33174=) n.446+8534A>T n.220-3562A>T c.103542T>A (p.Ile34514=) c.77436T>A (p.Ile25812=) c.77295T>A (p.Ile25765=) c.103338T>A (p.Ile34446=) c.98736T>A (p.Ile32912=) c.98733T>A (p.Ile32911=) c.95775T>A (p.Ile31925=) c.77391T>A (p.Ile25797=) c.98886T>A (p.Ile32962=) c.98883T>A (p.Ile32961=) c.98316T>A (p.Ile32772=) c.95658T>A (p.Ile31886=) c.95577T>A (p.Ile31859=) c.77340T>A (p.Ile25780=) c.67194T>A (p.Ile22398=) | |
2 | g.178532171A= | CA1310518111 | TTN,TTN-AS1 | c.96740T= (p.Ile32247=) c.77825T= (p.Ile25942=) c.77624T= (p.Ile25875=) c.77249T= (p.Ile25750=) c.104444T= (p.Ile34815=) c.99521T= (p.Ile33174=) n.446+8535A= n.220-3561A= c.103541T= (p.Ile34514=) c.77435T= (p.Ile25812=) c.77294T= (p.Ile25765=) c.103337T= (p.Ile34446=) c.98735T= (p.Ile32912=) c.98732T= (p.Ile32911=) c.95774T= (p.Ile31925=) c.77390T= (p.Ile25797=) c.98885T= (p.Ile32962=) c.98882T= (p.Ile32961=) c.98315T= (p.Ile32772=) c.95657T= (p.Ile31886=) c.95576T= (p.Ile31859=) c.77339T= (p.Ile25780=) c.67193T= (p.Ile22398=) | |
2 | g.178532171A>C | CA349411718 | TTN,TTN-AS1 | c.96740T>G (p.Ile32247Ser) c.77825T>G (p.Ile25942Ser) c.77624T>G (p.Ile25875Ser) c.77249T>G (p.Ile25750Ser) c.104444T>G (p.Ile34815Ser) c.99521T>G (p.Ile33174Ser) n.446+8535A>C n.220-3561A>C c.103541T>G (p.Ile34514Ser) c.77435T>G (p.Ile25812Ser) c.77294T>G (p.Ile25765Ser) c.103337T>G (p.Ile34446Ser) c.98735T>G (p.Ile32912Ser) c.98732T>G (p.Ile32911Ser) c.95774T>G (p.Ile31925Ser) c.77390T>G (p.Ile25797Ser) c.98885T>G (p.Ile32962Ser) c.98882T>G (p.Ile32961Ser) c.98315T>G (p.Ile32772Ser) c.95657T>G (p.Ile31886Ser) c.95576T>G (p.Ile31859Ser) c.77339T>G (p.Ile25780Ser) c.67193T>G (p.Ile22398Ser) | |
2 | g.178532171A>G | CA60956221 | TTN,TTN-AS1 | c.96740T>C (p.Ile32247Thr) c.77825T>C (p.Ile25942Thr) c.77624T>C (p.Ile25875Thr) c.77249T>C (p.Ile25750Thr) c.104444T>C (p.Ile34815Thr) c.99521T>C (p.Ile33174Thr) n.446+8535A>G n.220-3561A>G c.103541T>C (p.Ile34514Thr) c.77435T>C (p.Ile25812Thr) c.77294T>C (p.Ile25765Thr) c.103337T>C (p.Ile34446Thr) c.98735T>C (p.Ile32912Thr) c.98732T>C (p.Ile32911Thr) c.95774T>C (p.Ile31925Thr) c.77390T>C (p.Ile25797Thr) c.98885T>C (p.Ile32962Thr) c.98882T>C (p.Ile32961Thr) c.98315T>C (p.Ile32772Thr) c.95657T>C (p.Ile31886Thr) c.95576T>C (p.Ile31859Thr) c.77339T>C (p.Ile25780Thr) c.67193T>C (p.Ile22398Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
2 | g.178532171A>T | CA349411719 | TTN,TTN-AS1 | c.96740T>A (p.Ile32247Asn) c.77825T>A (p.Ile25942Asn) c.77624T>A (p.Ile25875Asn) c.77249T>A (p.Ile25750Asn) c.104444T>A (p.Ile34815Asn) c.99521T>A (p.Ile33174Asn) n.446+8535A>T n.220-3561A>T c.103541T>A (p.Ile34514Asn) c.77435T>A (p.Ile25812Asn) c.77294T>A (p.Ile25765Asn) c.103337T>A (p.Ile34446Asn) c.98735T>A (p.Ile32912Asn) c.98732T>A (p.Ile32911Asn) c.95774T>A (p.Ile31925Asn) c.77390T>A (p.Ile25797Asn) c.98885T>A (p.Ile32962Asn) c.98882T>A (p.Ile32961Asn) c.98315T>A (p.Ile32772Asn) c.95657T>A (p.Ile31886Asn) c.95576T>A (p.Ile31859Asn) c.77339T>A (p.Ile25780Asn) c.67193T>A (p.Ile22398Asn) | gnomAD v4 |
2 | g.178532172T>A | CA349411720 | TTN,TTN-AS1 | c.96739A>T (p.Ile32247Phe) c.77824A>T (p.Ile25942Phe) c.77623A>T (p.Ile25875Phe) c.77248A>T (p.Ile25750Phe) c.104443A>T (p.Ile34815Phe) c.99520A>T (p.Ile33174Phe) n.446+8536T>A n.220-3560T>A c.103540A>T (p.Ile34514Phe) c.77434A>T (p.Ile25812Phe) c.77293A>T (p.Ile25765Phe) c.103336A>T (p.Ile34446Phe) c.98734A>T (p.Ile32912Phe) c.98731A>T (p.Ile32911Phe) c.95773A>T (p.Ile31925Phe) c.77389A>T (p.Ile25797Phe) c.98884A>T (p.Ile32962Phe) c.98881A>T (p.Ile32961Phe) c.98314A>T (p.Ile32772Phe) c.95656A>T (p.Ile31886Phe) c.95575A>T (p.Ile31859Phe) c.77338A>T (p.Ile25780Phe) c.67192A>T (p.Ile22398Phe) | |
2 | g.178532172T>C | CA349411721 | TTN,TTN-AS1 | c.96739A>G (p.Ile32247Val) c.77824A>G (p.Ile25942Val) c.77623A>G (p.Ile25875Val) c.77248A>G (p.Ile25750Val) c.104443A>G (p.Ile34815Val) c.99520A>G (p.Ile33174Val) n.446+8536T>C n.220-3560T>C c.103540A>G (p.Ile34514Val) c.77434A>G (p.Ile25812Val) c.77293A>G (p.Ile25765Val) c.103336A>G (p.Ile34446Val) c.98734A>G (p.Ile32912Val) c.98731A>G (p.Ile32911Val) c.95773A>G (p.Ile31925Val) c.77389A>G (p.Ile25797Val) c.98884A>G (p.Ile32962Val) c.98881A>G (p.Ile32961Val) c.98314A>G (p.Ile32772Val) c.95656A>G (p.Ile31886Val) c.95575A>G (p.Ile31859Val) c.77338A>G (p.Ile25780Val) c.67192A>G (p.Ile22398Val) | |
2 | g.178532172T>G | CA349411722 | TTN,TTN-AS1 | c.96739A>C (p.Ile32247Leu) c.77824A>C (p.Ile25942Leu) c.77623A>C (p.Ile25875Leu) c.77248A>C (p.Ile25750Leu) c.104443A>C (p.Ile34815Leu) c.99520A>C (p.Ile33174Leu) n.446+8536T>G n.220-3560T>G c.103540A>C (p.Ile34514Leu) c.77434A>C (p.Ile25812Leu) c.77293A>C (p.Ile25765Leu) c.103336A>C (p.Ile34446Leu) c.98734A>C (p.Ile32912Leu) c.98731A>C (p.Ile32911Leu) c.95773A>C (p.Ile31925Leu) c.77389A>C (p.Ile25797Leu) c.98884A>C (p.Ile32962Leu) c.98881A>C (p.Ile32961Leu) c.98314A>C (p.Ile32772Leu) c.95656A>C (p.Ile31886Leu) c.95575A>C (p.Ile31859Leu) c.77338A>C (p.Ile25780Leu) c.67192A>C (p.Ile22398Leu) | |
2 | g.178532173T>A | CA349411723 | TTN,TTN-AS1 | c.96738A>T (p.Glu32246Asp) c.77823A>T (p.Glu25941Asp) c.77622A>T (p.Glu25874Asp) c.77247A>T (p.Glu25749Asp) c.104442A>T (p.Glu34814Asp) c.99519A>T (p.Glu33173Asp) n.446+8537T>A n.220-3559T>A c.103539A>T (p.Glu34513Asp) c.77433A>T (p.Glu25811Asp) c.77292A>T (p.Glu25764Asp) c.103335A>T (p.Glu34445Asp) c.98733A>T (p.Glu32911Asp) c.98730A>T (p.Glu32910Asp) c.95772A>T (p.Glu31924Asp) c.77388A>T (p.Glu25796Asp) c.98883A>T (p.Glu32961Asp) c.98880A>T (p.Glu32960Asp) c.98313A>T (p.Glu32771Asp) c.95655A>T (p.Glu31885Asp) c.95574A>T (p.Glu31858Asp) c.77337A>T (p.Glu25779Asp) c.67191A>T (p.Glu22397Asp) | |
2 | g.178532173T>C | CA430235907 | TTN,TTN-AS1 | c.96738A>G (p.Glu32246=) c.77823A>G (p.Glu25941=) c.77622A>G (p.Glu25874=) c.77247A>G (p.Glu25749=) c.104442A>G (p.Glu34814=) c.99519A>G (p.Glu33173=) n.446+8537T>C n.220-3559T>C c.103539A>G (p.Glu34513=) c.77433A>G (p.Glu25811=) c.77292A>G (p.Glu25764=) c.103335A>G (p.Glu34445=) c.98733A>G (p.Glu32911=) c.98730A>G (p.Glu32910=) c.95772A>G (p.Glu31924=) c.77388A>G (p.Glu25796=) c.98883A>G (p.Glu32961=) c.98880A>G (p.Glu32960=) c.98313A>G (p.Glu32771=) c.95655A>G (p.Glu31885=) c.95574A>G (p.Glu31858=) c.77337A>G (p.Glu25779=) c.67191A>G (p.Glu22397=) | |
2 | g.178532173T>G | CA349411724 | TTN,TTN-AS1 | c.96738A>C (p.Glu32246Asp) c.77823A>C (p.Glu25941Asp) c.77622A>C (p.Glu25874Asp) c.77247A>C (p.Glu25749Asp) c.104442A>C (p.Glu34814Asp) c.99519A>C (p.Glu33173Asp) n.446+8537T>G n.220-3559T>G c.103539A>C (p.Glu34513Asp) c.77433A>C (p.Glu25811Asp) c.77292A>C (p.Glu25764Asp) c.103335A>C (p.Glu34445Asp) c.98733A>C (p.Glu32911Asp) c.98730A>C (p.Glu32910Asp) c.95772A>C (p.Glu31924Asp) c.77388A>C (p.Glu25796Asp) c.98883A>C (p.Glu32961Asp) c.98880A>C (p.Glu32960Asp) c.98313A>C (p.Glu32771Asp) c.95655A>C (p.Glu31885Asp) c.95574A>C (p.Glu31858Asp) c.77337A>C (p.Glu25779Asp) c.67191A>C (p.Glu22397Asp) | |
2 | g.178532174T>A | CA349411725 | TTN,TTN-AS1 | c.96737A>T (p.Glu32246Val) c.77822A>T (p.Glu25941Val) c.77621A>T (p.Glu25874Val) c.77246A>T (p.Glu25749Val) c.104441A>T (p.Glu34814Val) c.99518A>T (p.Glu33173Val) n.446+8538T>A n.220-3558T>A c.103538A>T (p.Glu34513Val) c.77432A>T (p.Glu25811Val) c.77291A>T (p.Glu25764Val) c.103334A>T (p.Glu34445Val) c.98732A>T (p.Glu32911Val) c.98729A>T (p.Glu32910Val) c.95771A>T (p.Glu31924Val) c.77387A>T (p.Glu25796Val) c.98882A>T (p.Glu32961Val) c.98879A>T (p.Glu32960Val) c.98312A>T (p.Glu32771Val) c.95654A>T (p.Glu31885Val) c.95573A>T (p.Glu31858Val) c.77336A>T (p.Glu25779Val) c.67190A>T (p.Glu22397Val) | |
2 | g.178532174T>C | CA349411726 | TTN,TTN-AS1 | c.96737A>G (p.Glu32246Gly) c.77822A>G (p.Glu25941Gly) c.77621A>G (p.Glu25874Gly) c.77246A>G (p.Glu25749Gly) c.104441A>G (p.Glu34814Gly) c.99518A>G (p.Glu33173Gly) n.446+8538T>C n.220-3558T>C c.103538A>G (p.Glu34513Gly) c.77432A>G (p.Glu25811Gly) c.77291A>G (p.Glu25764Gly) c.103334A>G (p.Glu34445Gly) c.98732A>G (p.Glu32911Gly) c.98729A>G (p.Glu32910Gly) c.95771A>G (p.Glu31924Gly) c.77387A>G (p.Glu25796Gly) c.98882A>G (p.Glu32961Gly) c.98879A>G (p.Glu32960Gly) c.98312A>G (p.Glu32771Gly) c.95654A>G (p.Glu31885Gly) c.95573A>G (p.Glu31858Gly) c.77336A>G (p.Glu25779Gly) c.67190A>G (p.Glu22397Gly) | |
2 | g.178532174T>G | CA349411727 | TTN,TTN-AS1 | c.96737A>C (p.Glu32246Ala) c.77822A>C (p.Glu25941Ala) c.77621A>C (p.Glu25874Ala) c.77246A>C (p.Glu25749Ala) c.104441A>C (p.Glu34814Ala) c.99518A>C (p.Glu33173Ala) n.446+8538T>G n.220-3558T>G c.103538A>C (p.Glu34513Ala) c.77432A>C (p.Glu25811Ala) c.77291A>C (p.Glu25764Ala) c.103334A>C (p.Glu34445Ala) c.98732A>C (p.Glu32911Ala) c.98729A>C (p.Glu32910Ala) c.95771A>C (p.Glu31924Ala) c.77387A>C (p.Glu25796Ala) c.98882A>C (p.Glu32961Ala) c.98879A>C (p.Glu32960Ala) c.98312A>C (p.Glu32771Ala) c.95654A>C (p.Glu31885Ala) c.95573A>C (p.Glu31858Ala) c.77336A>C (p.Glu25779Ala) c.67190A>C (p.Glu22397Ala) | |
2 | g.178532175_178532176del | CA2662123808 | TTN,TTN-AS1 | c.96736_96737del (p.Glu32246AsnfsTer2) c.77821_77822del (p.Glu25941AsnfsTer2) c.77620_77621del (p.Glu25874AsnfsTer2) c.77245_77246del (p.Glu25749AsnfsTer2) c.104440_104441del (p.Glu34814AsnfsTer2) c.99517_99518del (p.Glu33173AsnfsTer2) n.446+8539_446+8540del n.220-3557_220-3556del c.103537_103538del (p.Glu34513AsnfsTer2) c.77431_77432del (p.Glu25811AsnfsTer2) c.77290_77291del (p.Glu25764AsnfsTer2) c.103333_103334del (p.Glu34445AsnfsTer2) c.98731_98732del (p.Glu32911AsnfsTer2) c.98728_98729del (p.Glu32910AsnfsTer2) c.95770_95771del (p.Glu31924AsnfsTer2) c.77386_77387del (p.Glu25796AsnfsTer2) c.98881_98882del (p.Glu32961AsnfsTer2) c.98878_98879del (p.Glu32960AsnfsTer2) c.98311_98312del (p.Glu32771AsnfsTer2) c.95653_95654del (p.Glu31885AsnfsTer2) c.95572_95573del (p.Glu31858AsnfsTer2) c.77335_77336del (p.Glu25779AsnfsTer2) c.67189_67190del (p.Glu22397AsnfsTer2) | gnomAD v4 |
2 | g.178532175C>A | CA349411728 | TTN,TTN-AS1 | c.96736G>T (p.Glu32246Ter) c.77821G>T (p.Glu25941Ter) c.77620G>T (p.Glu25874Ter) c.77245G>T (p.Glu25749Ter) c.104440G>T (p.Glu34814Ter) c.99517G>T (p.Glu33173Ter) n.446+8539C>A n.220-3557C>A c.103537G>T (p.Glu34513Ter) c.77431G>T (p.Glu25811Ter) c.77290G>T (p.Glu25764Ter) c.103333G>T (p.Glu34445Ter) c.98731G>T (p.Glu32911Ter) c.98728G>T (p.Glu32910Ter) c.95770G>T (p.Glu31924Ter) c.77386G>T (p.Glu25796Ter) c.98881G>T (p.Glu32961Ter) c.98878G>T (p.Glu32960Ter) c.98311G>T (p.Glu32771Ter) c.95653G>T (p.Glu31885Ter) c.95572G>T (p.Glu31858Ter) c.77335G>T (p.Glu25779Ter) c.67189G>T (p.Glu22397Ter) | |
2 | g.178532175C>G | CA349411729 | TTN,TTN-AS1 | c.96736G>C (p.Glu32246Gln) c.77821G>C (p.Glu25941Gln) c.77620G>C (p.Glu25874Gln) c.77245G>C (p.Glu25749Gln) c.104440G>C (p.Glu34814Gln) c.99517G>C (p.Glu33173Gln) n.446+8539C>G n.220-3557C>G c.103537G>C (p.Glu34513Gln) c.77431G>C (p.Glu25811Gln) c.77290G>C (p.Glu25764Gln) c.103333G>C (p.Glu34445Gln) c.98731G>C (p.Glu32911Gln) c.98728G>C (p.Glu32910Gln) c.95770G>C (p.Glu31924Gln) c.77386G>C (p.Glu25796Gln) c.98881G>C (p.Glu32961Gln) c.98878G>C (p.Glu32960Gln) c.98311G>C (p.Glu32771Gln) c.95653G>C (p.Glu31885Gln) c.95572G>C (p.Glu31858Gln) c.77335G>C (p.Glu25779Gln) c.67189G>C (p.Glu22397Gln) | |
2 | g.178532175C>T | CA349411730 | TTN,TTN-AS1 | c.96736G>A (p.Glu32246Lys) c.77821G>A (p.Glu25941Lys) c.77620G>A (p.Glu25874Lys) c.77245G>A (p.Glu25749Lys) c.104440G>A (p.Glu34814Lys) c.99517G>A (p.Glu33173Lys) n.446+8539C>T n.220-3557C>T c.103537G>A (p.Glu34513Lys) c.77431G>A (p.Glu25811Lys) c.77290G>A (p.Glu25764Lys) c.103333G>A (p.Glu34445Lys) c.98731G>A (p.Glu32911Lys) c.98728G>A (p.Glu32910Lys) c.95770G>A (p.Glu31924Lys) c.77386G>A (p.Glu25796Lys) c.98881G>A (p.Glu32961Lys) c.98878G>A (p.Glu32960Lys) c.98311G>A (p.Glu32771Lys) c.95653G>A (p.Glu31885Lys) c.95572G>A (p.Glu31858Lys) c.77335G>A (p.Glu25779Lys) c.67189G>A (p.Glu22397Lys) | COSMIC |
2 | g.178532176T>A | CA430235908 | TTN,TTN-AS1 | c.96735A>T (p.Thr32245=) c.77820A>T (p.Thr25940=) c.77619A>T (p.Thr25873=) c.77244A>T (p.Thr25748=) c.104439A>T (p.Thr34813=) c.99516A>T (p.Thr33172=) n.446+8540T>A n.220-3556T>A c.103536A>T (p.Thr34512=) c.77430A>T (p.Thr25810=) c.77289A>T (p.Thr25763=) c.103332A>T (p.Thr34444=) c.98730A>T (p.Thr32910=) c.98727A>T (p.Thr32909=) c.95769A>T (p.Thr31923=) c.77385A>T (p.Thr25795=) c.98880A>T (p.Thr32960=) c.98877A>T (p.Thr32959=) c.98310A>T (p.Thr32770=) c.95652A>T (p.Thr31884=) c.95571A>T (p.Thr31857=) c.77334A>T (p.Thr25778=) c.67188A>T (p.Thr22396=) | |
2 | g.178532176T>C | CA430235909 | TTN,TTN-AS1 | c.96735A>G (p.Thr32245=) c.77820A>G (p.Thr25940=) c.77619A>G (p.Thr25873=) c.77244A>G (p.Thr25748=) c.104439A>G (p.Thr34813=) c.99516A>G (p.Thr33172=) n.446+8540T>C n.220-3556T>C c.103536A>G (p.Thr34512=) c.77430A>G (p.Thr25810=) c.77289A>G (p.Thr25763=) c.103332A>G (p.Thr34444=) c.98730A>G (p.Thr32910=) c.98727A>G (p.Thr32909=) c.95769A>G (p.Thr31923=) c.77385A>G (p.Thr25795=) c.98880A>G (p.Thr32960=) c.98877A>G (p.Thr32959=) c.98310A>G (p.Thr32770=) c.95652A>G (p.Thr31884=) c.95571A>G (p.Thr31857=) c.77334A>G (p.Thr25778=) c.67188A>G (p.Thr22396=) | |
2 | g.178532176T>G | CA430235910 | TTN,TTN-AS1 | c.96735A>C (p.Thr32245=) c.77820A>C (p.Thr25940=) c.77619A>C (p.Thr25873=) c.77244A>C (p.Thr25748=) c.104439A>C (p.Thr34813=) c.99516A>C (p.Thr33172=) n.446+8540T>G n.220-3556T>G c.103536A>C (p.Thr34512=) c.77430A>C (p.Thr25810=) c.77289A>C (p.Thr25763=) c.103332A>C (p.Thr34444=) c.98730A>C (p.Thr32910=) c.98727A>C (p.Thr32909=) c.95769A>C (p.Thr31923=) c.77385A>C (p.Thr25795=) c.98880A>C (p.Thr32960=) c.98877A>C (p.Thr32959=) c.98310A>C (p.Thr32770=) c.95652A>C (p.Thr31884=) c.95571A>C (p.Thr31857=) c.77334A>C (p.Thr25778=) c.67188A>C (p.Thr22396=) | |
2 | g.178532177_178532181del | CA2577170193 | TTN,TTN-AS1 | c.96731_96735del (p.Ile32244ArgfsTer3) c.77816_77820del (p.Ile25939ArgfsTer3) c.77615_77619del (p.Ile25872ArgfsTer3) c.77240_77244del (p.Ile25747ArgfsTer3) c.104435_104439del (p.Ile34812ArgfsTer3) c.99512_99516del (p.Ile33171ArgfsTer3) n.446+8541_446+8545del n.220-3555_220-3551del c.103532_103536del (p.Ile34511ArgfsTer3) c.77426_77430del (p.Ile25809ArgfsTer3) c.77285_77289del (p.Ile25762ArgfsTer3) c.103328_103332del (p.Ile34443ArgfsTer3) c.98726_98730del (p.Ile32909ArgfsTer3) c.98723_98727del (p.Ile32908ArgfsTer3) c.95765_95769del (p.Ile31922ArgfsTer3) c.77381_77385del (p.Ile25794ArgfsTer3) c.98876_98880del (p.Ile32959ArgfsTer3) c.98873_98877del (p.Ile32958ArgfsTer3) c.98306_98310del (p.Ile32769ArgfsTer3) c.95648_95652del (p.Ile31883ArgfsTer3) c.95567_95571del (p.Ile31856ArgfsTer3) c.77330_77334del (p.Ile25777ArgfsTer3) c.67184_67188del (p.Ile22395ArgfsTer3) | |
2 | g.178532177G>A | CA349411731 | TTN,TTN-AS1 | c.96734C>T (p.Thr32245Ile) c.77819C>T (p.Thr25940Ile) c.77618C>T (p.Thr25873Ile) c.77243C>T (p.Thr25748Ile) c.104438C>T (p.Thr34813Ile) c.99515C>T (p.Thr33172Ile) n.446+8541G>A n.220-3555G>A c.103535C>T (p.Thr34512Ile) c.77429C>T (p.Thr25810Ile) c.77288C>T (p.Thr25763Ile) c.103331C>T (p.Thr34444Ile) c.98729C>T (p.Thr32910Ile) c.98726C>T (p.Thr32909Ile) c.95768C>T (p.Thr31923Ile) c.77384C>T (p.Thr25795Ile) c.98879C>T (p.Thr32960Ile) c.98876C>T (p.Thr32959Ile) c.98309C>T (p.Thr32770Ile) c.95651C>T (p.Thr31884Ile) c.95570C>T (p.Thr31857Ile) c.77333C>T (p.Thr25778Ile) c.67187C>T (p.Thr22396Ile) | |
2 | g.178532177G>C | CA349411732 | TTN,TTN-AS1 | c.96734C>G (p.Thr32245Arg) c.77819C>G (p.Thr25940Arg) c.77618C>G (p.Thr25873Arg) c.77243C>G (p.Thr25748Arg) c.104438C>G (p.Thr34813Arg) c.99515C>G (p.Thr33172Arg) n.446+8541G>C n.220-3555G>C c.103535C>G (p.Thr34512Arg) c.77429C>G (p.Thr25810Arg) c.77288C>G (p.Thr25763Arg) c.103331C>G (p.Thr34444Arg) c.98729C>G (p.Thr32910Arg) c.98726C>G (p.Thr32909Arg) c.95768C>G (p.Thr31923Arg) c.77384C>G (p.Thr25795Arg) c.98879C>G (p.Thr32960Arg) c.98876C>G (p.Thr32959Arg) c.98309C>G (p.Thr32770Arg) c.95651C>G (p.Thr31884Arg) c.95570C>G (p.Thr31857Arg) c.77333C>G (p.Thr25778Arg) c.67187C>G (p.Thr22396Arg) | |
2 | g.178532177G= | CA1310518112 | TTN,TTN-AS1 | c.96734C= (p.Thr32245=) c.77819C= (p.Thr25940=) c.77618C= (p.Thr25873=) c.77243C= (p.Thr25748=) c.104438C= (p.Thr34813=) c.99515C= (p.Thr33172=) n.446+8541G= n.220-3555G= c.103535C= (p.Thr34512=) c.77429C= (p.Thr25810=) c.77288C= (p.Thr25763=) c.103331C= (p.Thr34444=) c.98729C= (p.Thr32910=) c.98726C= (p.Thr32909=) c.95768C= (p.Thr31923=) c.77384C= (p.Thr25795=) c.98879C= (p.Thr32960=) c.98876C= (p.Thr32959=) c.98309C= (p.Thr32770=) c.95651C= (p.Thr31884=) c.95570C= (p.Thr31857=) c.77333C= (p.Thr25778=) c.67187C= (p.Thr22396=) | |
2 | g.178532177G>T | CA1985427 | TTN,TTN-AS1 | c.96734C>A (p.Thr32245Lys) c.77819C>A (p.Thr25940Lys) c.77618C>A (p.Thr25873Lys) c.77243C>A (p.Thr25748Lys) c.104438C>A (p.Thr34813Lys) c.99515C>A (p.Thr33172Lys) n.446+8541G>T n.220-3555G>T c.103535C>A (p.Thr34512Lys) c.77429C>A (p.Thr25810Lys) c.77288C>A (p.Thr25763Lys) c.103331C>A (p.Thr34444Lys) c.98729C>A (p.Thr32910Lys) c.98726C>A (p.Thr32909Lys) c.95768C>A (p.Thr31923Lys) c.77384C>A (p.Thr25795Lys) c.98879C>A (p.Thr32960Lys) c.98876C>A (p.Thr32959Lys) c.98309C>A (p.Thr32770Lys) c.95651C>A (p.Thr31884Lys) c.95570C>A (p.Thr31857Lys) c.77333C>A (p.Thr25778Lys) c.67187C>A (p.Thr22396Lys) | ClinVar dbSNP ExAC gnomAD v2 |
2 | g.178532178T>A | CA349411733 | TTN,TTN-AS1 | c.96733A>T (p.Thr32245Ser) c.77818A>T (p.Thr25940Ser) c.77617A>T (p.Thr25873Ser) c.77242A>T (p.Thr25748Ser) c.104437A>T (p.Thr34813Ser) c.99514A>T (p.Thr33172Ser) n.446+8542T>A n.220-3554T>A c.103534A>T (p.Thr34512Ser) c.77428A>T (p.Thr25810Ser) c.77287A>T (p.Thr25763Ser) c.103330A>T (p.Thr34444Ser) c.98728A>T (p.Thr32910Ser) c.98725A>T (p.Thr32909Ser) c.95767A>T (p.Thr31923Ser) c.77383A>T (p.Thr25795Ser) c.98878A>T (p.Thr32960Ser) c.98875A>T (p.Thr32959Ser) c.98308A>T (p.Thr32770Ser) c.95650A>T (p.Thr31884Ser) c.95569A>T (p.Thr31857Ser) c.77332A>T (p.Thr25778Ser) c.67186A>T (p.Thr22396Ser) | |
2 | g.178532178T>C | CA349411734 | TTN,TTN-AS1 | c.96733A>G (p.Thr32245Ala) c.77818A>G (p.Thr25940Ala) c.77617A>G (p.Thr25873Ala) c.77242A>G (p.Thr25748Ala) c.104437A>G (p.Thr34813Ala) c.99514A>G (p.Thr33172Ala) n.446+8542T>C n.220-3554T>C c.103534A>G (p.Thr34512Ala) c.77428A>G (p.Thr25810Ala) c.77287A>G (p.Thr25763Ala) c.103330A>G (p.Thr34444Ala) c.98728A>G (p.Thr32910Ala) c.98725A>G (p.Thr32909Ala) c.95767A>G (p.Thr31923Ala) c.77383A>G (p.Thr25795Ala) c.98878A>G (p.Thr32960Ala) c.98875A>G (p.Thr32959Ala) c.98308A>G (p.Thr32770Ala) c.95650A>G (p.Thr31884Ala) c.95569A>G (p.Thr31857Ala) c.77332A>G (p.Thr25778Ala) c.67186A>G (p.Thr22396Ala) | |
2 | g.178532178T>G | CA349411735 | TTN,TTN-AS1 | c.96733A>C (p.Thr32245Pro) c.77818A>C (p.Thr25940Pro) c.77617A>C (p.Thr25873Pro) c.77242A>C (p.Thr25748Pro) c.104437A>C (p.Thr34813Pro) c.99514A>C (p.Thr33172Pro) n.446+8542T>G n.220-3554T>G c.103534A>C (p.Thr34512Pro) c.77428A>C (p.Thr25810Pro) c.77287A>C (p.Thr25763Pro) c.103330A>C (p.Thr34444Pro) c.98728A>C (p.Thr32910Pro) c.98725A>C (p.Thr32909Pro) c.95767A>C (p.Thr31923Pro) c.77383A>C (p.Thr25795Pro) c.98878A>C (p.Thr32960Pro) c.98875A>C (p.Thr32959Pro) c.98308A>C (p.Thr32770Pro) c.95650A>C (p.Thr31884Pro) c.95569A>C (p.Thr31857Pro) c.77332A>C (p.Thr25778Pro) c.67186A>C (p.Thr22396Pro) | |
2 | g.178532179T>A | CA430235911 | TTN,TTN-AS1 | c.96732A>T (p.Ile32244=) c.77817A>T (p.Ile25939=) c.77616A>T (p.Ile25872=) c.77241A>T (p.Ile25747=) c.104436A>T (p.Ile34812=) c.99513A>T (p.Ile33171=) n.446+8543T>A n.220-3553T>A c.103533A>T (p.Ile34511=) c.77427A>T (p.Ile25809=) c.77286A>T (p.Ile25762=) c.103329A>T (p.Ile34443=) c.98727A>T (p.Ile32909=) c.98724A>T (p.Ile32908=) c.95766A>T (p.Ile31922=) c.77382A>T (p.Ile25794=) c.98877A>T (p.Ile32959=) c.98874A>T (p.Ile32958=) c.98307A>T (p.Ile32769=) c.95649A>T (p.Ile31883=) c.95568A>T (p.Ile31856=) c.77331A>T (p.Ile25777=) c.67185A>T (p.Ile22395=) | |
2 | g.178532179T>C | CA349411736 | TTN,TTN-AS1 | c.96732A>G (p.Ile32244Met) c.77817A>G (p.Ile25939Met) c.77616A>G (p.Ile25872Met) c.77241A>G (p.Ile25747Met) c.104436A>G (p.Ile34812Met) c.99513A>G (p.Ile33171Met) n.446+8543T>C n.220-3553T>C c.103533A>G (p.Ile34511Met) c.77427A>G (p.Ile25809Met) c.77286A>G (p.Ile25762Met) c.103329A>G (p.Ile34443Met) c.98727A>G (p.Ile32909Met) c.98724A>G (p.Ile32908Met) c.95766A>G (p.Ile31922Met) c.77382A>G (p.Ile25794Met) c.98877A>G (p.Ile32959Met) c.98874A>G (p.Ile32958Met) c.98307A>G (p.Ile32769Met) c.95649A>G (p.Ile31883Met) c.95568A>G (p.Ile31856Met) c.77331A>G (p.Ile25777Met) c.67185A>G (p.Ile22395Met) | |
2 | g.178532179T>G | CA430235912 | TTN,TTN-AS1 | c.96732A>C (p.Ile32244=) c.77817A>C (p.Ile25939=) c.77616A>C (p.Ile25872=) c.77241A>C (p.Ile25747=) c.104436A>C (p.Ile34812=) c.99513A>C (p.Ile33171=) n.446+8543T>G n.220-3553T>G c.103533A>C (p.Ile34511=) c.77427A>C (p.Ile25809=) c.77286A>C (p.Ile25762=) c.103329A>C (p.Ile34443=) c.98727A>C (p.Ile32909=) c.98724A>C (p.Ile32908=) c.95766A>C (p.Ile31922=) c.77382A>C (p.Ile25794=) c.98877A>C (p.Ile32959=) c.98874A>C (p.Ile32958=) c.98307A>C (p.Ile32769=) c.95649A>C (p.Ile31883=) c.95568A>C (p.Ile31856=) c.77331A>C (p.Ile25777=) c.67185A>C (p.Ile22395=) | |
2 | g.178532180A= | CA1310518113 | TTN,TTN-AS1 | c.96731T= (p.Ile32244=) c.77816T= (p.Ile25939=) c.77615T= (p.Ile25872=) c.77240T= (p.Ile25747=) c.104435T= (p.Ile34812=) c.99512T= (p.Ile33171=) n.446+8544A= n.220-3552A= c.103532T= (p.Ile34511=) c.77426T= (p.Ile25809=) c.77285T= (p.Ile25762=) c.103328T= (p.Ile34443=) c.98726T= (p.Ile32909=) c.98723T= (p.Ile32908=) c.95765T= (p.Ile31922=) c.77381T= (p.Ile25794=) c.98876T= (p.Ile32959=) c.98873T= (p.Ile32958=) c.98306T= (p.Ile32769=) c.95648T= (p.Ile31883=) c.95567T= (p.Ile31856=) c.77330T= (p.Ile25777=) c.67184T= (p.Ile22395=) | |
2 | g.178532180A>C | CA349411739 | TTN,TTN-AS1 | c.96731T>G (p.Ile32244Arg) c.77816T>G (p.Ile25939Arg) c.77615T>G (p.Ile25872Arg) c.77240T>G (p.Ile25747Arg) c.104435T>G (p.Ile34812Arg) c.99512T>G (p.Ile33171Arg) n.446+8544A>C n.220-3552A>C c.103532T>G (p.Ile34511Arg) c.77426T>G (p.Ile25809Arg) c.77285T>G (p.Ile25762Arg) c.103328T>G (p.Ile34443Arg) c.98726T>G (p.Ile32909Arg) c.98723T>G (p.Ile32908Arg) c.95765T>G (p.Ile31922Arg) c.77381T>G (p.Ile25794Arg) c.98876T>G (p.Ile32959Arg) c.98873T>G (p.Ile32958Arg) c.98306T>G (p.Ile32769Arg) c.95648T>G (p.Ile31883Arg) c.95567T>G (p.Ile31856Arg) c.77330T>G (p.Ile25777Arg) c.67184T>G (p.Ile22395Arg) | |
2 | g.178532180A>G | CA349411737 | TTN,TTN-AS1 | c.96731T>C (p.Ile32244Thr) c.77816T>C (p.Ile25939Thr) c.77615T>C (p.Ile25872Thr) c.77240T>C (p.Ile25747Thr) c.104435T>C (p.Ile34812Thr) c.99512T>C (p.Ile33171Thr) n.446+8544A>G n.220-3552A>G c.103532T>C (p.Ile34511Thr) c.77426T>C (p.Ile25809Thr) c.77285T>C (p.Ile25762Thr) c.103328T>C (p.Ile34443Thr) c.98726T>C (p.Ile32909Thr) c.98723T>C (p.Ile32908Thr) c.95765T>C (p.Ile31922Thr) c.77381T>C (p.Ile25794Thr) c.98876T>C (p.Ile32959Thr) c.98873T>C (p.Ile32958Thr) c.98306T>C (p.Ile32769Thr) c.95648T>C (p.Ile31883Thr) c.95567T>C (p.Ile31856Thr) c.77330T>C (p.Ile25777Thr) c.67184T>C (p.Ile22395Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.178532180A>T | CA349411738 | TTN,TTN-AS1 | c.96731T>A (p.Ile32244Lys) c.77816T>A (p.Ile25939Lys) c.77615T>A (p.Ile25872Lys) c.77240T>A (p.Ile25747Lys) c.104435T>A (p.Ile34812Lys) c.99512T>A (p.Ile33171Lys) n.446+8544A>T n.220-3552A>T c.103532T>A (p.Ile34511Lys) c.77426T>A (p.Ile25809Lys) c.77285T>A (p.Ile25762Lys) c.103328T>A (p.Ile34443Lys) c.98726T>A (p.Ile32909Lys) c.98723T>A (p.Ile32908Lys) c.95765T>A (p.Ile31922Lys) c.77381T>A (p.Ile25794Lys) c.98876T>A (p.Ile32959Lys) c.98873T>A (p.Ile32958Lys) c.98306T>A (p.Ile32769Lys) c.95648T>A (p.Ile31883Lys) c.95567T>A (p.Ile31856Lys) c.77330T>A (p.Ile25777Lys) c.67184T>A (p.Ile22395Lys) | |
2 | g.178532181T>A | CA349411740 | TTN,TTN-AS1 | c.96730A>T (p.Ile32244Leu) c.77815A>T (p.Ile25939Leu) c.77614A>T (p.Ile25872Leu) c.77239A>T (p.Ile25747Leu) c.104434A>T (p.Ile34812Leu) c.99511A>T (p.Ile33171Leu) n.446+8545T>A n.220-3551T>A c.103531A>T (p.Ile34511Leu) c.77425A>T (p.Ile25809Leu) c.77284A>T (p.Ile25762Leu) c.103327A>T (p.Ile34443Leu) c.98725A>T (p.Ile32909Leu) c.98722A>T (p.Ile32908Leu) c.95764A>T (p.Ile31922Leu) c.77380A>T (p.Ile25794Leu) c.98875A>T (p.Ile32959Leu) c.98872A>T (p.Ile32958Leu) c.98305A>T (p.Ile32769Leu) c.95647A>T (p.Ile31883Leu) c.95566A>T (p.Ile31856Leu) c.77329A>T (p.Ile25777Leu) c.67183A>T (p.Ile22395Leu) | |
2 | g.178532181T>C | CA349411741 | TTN,TTN-AS1 | c.96730A>G (p.Ile32244Val) c.77815A>G (p.Ile25939Val) c.77614A>G (p.Ile25872Val) c.77239A>G (p.Ile25747Val) c.104434A>G (p.Ile34812Val) c.99511A>G (p.Ile33171Val) n.446+8545T>C n.220-3551T>C c.103531A>G (p.Ile34511Val) c.77425A>G (p.Ile25809Val) c.77284A>G (p.Ile25762Val) c.103327A>G (p.Ile34443Val) c.98725A>G (p.Ile32909Val) c.98722A>G (p.Ile32908Val) c.95764A>G (p.Ile31922Val) c.77380A>G (p.Ile25794Val) c.98875A>G (p.Ile32959Val) c.98872A>G (p.Ile32958Val) c.98305A>G (p.Ile32769Val) c.95647A>G (p.Ile31883Val) c.95566A>G (p.Ile31856Val) c.77329A>G (p.Ile25777Val) c.67183A>G (p.Ile22395Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.178532181T>G | CA349411742 | TTN,TTN-AS1 | c.96730A>C (p.Ile32244Leu) c.77815A>C (p.Ile25939Leu) c.77614A>C (p.Ile25872Leu) c.77239A>C (p.Ile25747Leu) c.104434A>C (p.Ile34812Leu) c.99511A>C (p.Ile33171Leu) n.446+8545T>G n.220-3551T>G c.103531A>C (p.Ile34511Leu) c.77425A>C (p.Ile25809Leu) c.77284A>C (p.Ile25762Leu) c.103327A>C (p.Ile34443Leu) c.98725A>C (p.Ile32909Leu) c.98722A>C (p.Ile32908Leu) c.95764A>C (p.Ile31922Leu) c.77380A>C (p.Ile25794Leu) c.98875A>C (p.Ile32959Leu) c.98872A>C (p.Ile32958Leu) c.98305A>C (p.Ile32769Leu) c.95647A>C (p.Ile31883Leu) c.95566A>C (p.Ile31856Leu) c.77329A>C (p.Ile25777Leu) c.67183A>C (p.Ile22395Leu) | |
2 | g.178532181T= | CA1310518114 | TTN,TTN-AS1 | c.96730A= (p.Ile32244=) c.77815A= (p.Ile25939=) c.77614A= (p.Ile25872=) c.77239A= (p.Ile25747=) c.104434A= (p.Ile34812=) c.99511A= (p.Ile33171=) n.446+8545T= n.220-3551T= c.103531A= (p.Ile34511=) c.77425A= (p.Ile25809=) c.77284A= (p.Ile25762=) c.103327A= (p.Ile34443=) c.98725A= (p.Ile32909=) c.98722A= (p.Ile32908=) c.95764A= (p.Ile31922=) c.77380A= (p.Ile25794=) c.98875A= (p.Ile32959=) c.98872A= (p.Ile32958=) c.98305A= (p.Ile32769=) c.95647A= (p.Ile31883=) c.95566A= (p.Ile31856=) c.77329A= (p.Ile25777=) c.67183A= (p.Ile22395=) | |
2 | g.178532182T>A | CA349411743 | TTN,TTN-AS1 | c.96729A>T (p.Glu32243Asp) c.77814A>T (p.Glu25938Asp) c.77613A>T (p.Glu25871Asp) c.77238A>T (p.Glu25746Asp) c.104433A>T (p.Glu34811Asp) c.99510A>T (p.Glu33170Asp) n.446+8546T>A n.220-3550T>A c.103530A>T (p.Glu34510Asp) c.77424A>T (p.Glu25808Asp) c.77283A>T (p.Glu25761Asp) c.103326A>T (p.Glu34442Asp) c.98724A>T (p.Glu32908Asp) c.98721A>T (p.Glu32907Asp) c.95763A>T (p.Glu31921Asp) c.77379A>T (p.Glu25793Asp) c.98874A>T (p.Glu32958Asp) c.98871A>T (p.Glu32957Asp) c.98304A>T (p.Glu32768Asp) c.95646A>T (p.Glu31882Asp) c.95565A>T (p.Glu31855Asp) c.77328A>T (p.Glu25776Asp) c.67182A>T (p.Glu22394Asp) | |
2 | g.178532182T>C | CA430235913 | TTN,TTN-AS1 | c.96729A>G (p.Glu32243=) c.77814A>G (p.Glu25938=) c.77613A>G (p.Glu25871=) c.77238A>G (p.Glu25746=) c.104433A>G (p.Glu34811=) c.99510A>G (p.Glu33170=) n.446+8546T>C n.220-3550T>C c.103530A>G (p.Glu34510=) c.77424A>G (p.Glu25808=) c.77283A>G (p.Glu25761=) c.103326A>G (p.Glu34442=) c.98724A>G (p.Glu32908=) c.98721A>G (p.Glu32907=) c.95763A>G (p.Glu31921=) c.77379A>G (p.Glu25793=) c.98874A>G (p.Glu32958=) c.98871A>G (p.Glu32957=) c.98304A>G (p.Glu32768=) c.95646A>G (p.Glu31882=) c.95565A>G (p.Glu31855=) c.77328A>G (p.Glu25776=) c.67182A>G (p.Glu22394=) | |
2 | g.178532182T>G | CA349411744 | TTN,TTN-AS1 | c.96729A>C (p.Glu32243Asp) c.77814A>C (p.Glu25938Asp) c.77613A>C (p.Glu25871Asp) c.77238A>C (p.Glu25746Asp) c.104433A>C (p.Glu34811Asp) c.99510A>C (p.Glu33170Asp) n.446+8546T>G n.220-3550T>G c.103530A>C (p.Glu34510Asp) c.77424A>C (p.Glu25808Asp) c.77283A>C (p.Glu25761Asp) c.103326A>C (p.Glu34442Asp) c.98724A>C (p.Glu32908Asp) c.98721A>C (p.Glu32907Asp) c.95763A>C (p.Glu31921Asp) c.77379A>C (p.Glu25793Asp) c.98874A>C (p.Glu32958Asp) c.98871A>C (p.Glu32957Asp) c.98304A>C (p.Glu32768Asp) c.95646A>C (p.Glu31882Asp) c.95565A>C (p.Glu31855Asp) c.77328A>C (p.Glu25776Asp) c.67182A>C (p.Glu22394Asp) | |
2 | g.178532183T>A | CA349411745 | TTN,TTN-AS1 | c.96728A>T (p.Glu32243Val) c.77813A>T (p.Glu25938Val) c.77612A>T (p.Glu25871Val) c.77237A>T (p.Glu25746Val) c.104432A>T (p.Glu34811Val) c.99509A>T (p.Glu33170Val) n.446+8547T>A n.220-3549T>A c.103529A>T (p.Glu34510Val) c.77423A>T (p.Glu25808Val) c.77282A>T (p.Glu25761Val) c.103325A>T (p.Glu34442Val) c.98723A>T (p.Glu32908Val) c.98720A>T (p.Glu32907Val) c.95762A>T (p.Glu31921Val) c.77378A>T (p.Glu25793Val) c.98873A>T (p.Glu32958Val) c.98870A>T (p.Glu32957Val) c.98303A>T (p.Glu32768Val) c.95645A>T (p.Glu31882Val) c.95564A>T (p.Glu31855Val) c.77327A>T (p.Glu25776Val) c.67181A>T (p.Glu22394Val) | |
2 | g.178532183T>C | CA349411746 | TTN,TTN-AS1 | c.96728A>G (p.Glu32243Gly) c.77813A>G (p.Glu25938Gly) c.77612A>G (p.Glu25871Gly) c.77237A>G (p.Glu25746Gly) c.104432A>G (p.Glu34811Gly) c.99509A>G (p.Glu33170Gly) n.446+8547T>C n.220-3549T>C c.103529A>G (p.Glu34510Gly) c.77423A>G (p.Glu25808Gly) c.77282A>G (p.Glu25761Gly) c.103325A>G (p.Glu34442Gly) c.98723A>G (p.Glu32908Gly) c.98720A>G (p.Glu32907Gly) c.95762A>G (p.Glu31921Gly) c.77378A>G (p.Glu25793Gly) c.98873A>G (p.Glu32958Gly) c.98870A>G (p.Glu32957Gly) c.98303A>G (p.Glu32768Gly) c.95645A>G (p.Glu31882Gly) c.95564A>G (p.Glu31855Gly) c.77327A>G (p.Glu25776Gly) c.67181A>G (p.Glu22394Gly) | |
2 | g.178532183T>G | CA349411747 | TTN,TTN-AS1 | c.96728A>C (p.Glu32243Ala) c.77813A>C (p.Glu25938Ala) c.77612A>C (p.Glu25871Ala) c.77237A>C (p.Glu25746Ala) c.104432A>C (p.Glu34811Ala) c.99509A>C (p.Glu33170Ala) n.446+8547T>G n.220-3549T>G c.103529A>C (p.Glu34510Ala) c.77423A>C (p.Glu25808Ala) c.77282A>C (p.Glu25761Ala) c.103325A>C (p.Glu34442Ala) c.98723A>C (p.Glu32908Ala) c.98720A>C (p.Glu32907Ala) c.95762A>C (p.Glu31921Ala) c.77378A>C (p.Glu25793Ala) c.98873A>C (p.Glu32958Ala) c.98870A>C (p.Glu32957Ala) c.98303A>C (p.Glu32768Ala) c.95645A>C (p.Glu31882Ala) c.95564A>C (p.Glu31855Ala) c.77327A>C (p.Glu25776Ala) c.67181A>C (p.Glu22394Ala) | |
2 | g.178532184C>A | CA349411748 | TTN,TTN-AS1 | c.96727G>T (p.Glu32243Ter) c.77812G>T (p.Glu25938Ter) c.77611G>T (p.Glu25871Ter) c.77236G>T (p.Glu25746Ter) c.104431G>T (p.Glu34811Ter) c.99508G>T (p.Glu33170Ter) n.446+8548C>A n.220-3548C>A c.103528G>T (p.Glu34510Ter) c.77422G>T (p.Glu25808Ter) c.77281G>T (p.Glu25761Ter) c.103324G>T (p.Glu34442Ter) c.98722G>T (p.Glu32908Ter) c.98719G>T (p.Glu32907Ter) c.95761G>T (p.Glu31921Ter) c.77377G>T (p.Glu25793Ter) c.98872G>T (p.Glu32958Ter) c.98869G>T (p.Glu32957Ter) c.98302G>T (p.Glu32768Ter) c.95644G>T (p.Glu31882Ter) c.95563G>T (p.Glu31855Ter) c.77326G>T (p.Glu25776Ter) c.67180G>T (p.Glu22394Ter) | |
2 | g.178532184C>G | CA349411749 | TTN,TTN-AS1 | c.96727G>C (p.Glu32243Gln) c.77812G>C (p.Glu25938Gln) c.77611G>C (p.Glu25871Gln) c.77236G>C (p.Glu25746Gln) c.104431G>C (p.Glu34811Gln) c.99508G>C (p.Glu33170Gln) n.446+8548C>G n.220-3548C>G c.103528G>C (p.Glu34510Gln) c.77422G>C (p.Glu25808Gln) c.77281G>C (p.Glu25761Gln) c.103324G>C (p.Glu34442Gln) c.98722G>C (p.Glu32908Gln) c.98719G>C (p.Glu32907Gln) c.95761G>C (p.Glu31921Gln) c.77377G>C (p.Glu25793Gln) c.98872G>C (p.Glu32958Gln) c.98869G>C (p.Glu32957Gln) c.98302G>C (p.Glu32768Gln) c.95644G>C (p.Glu31882Gln) c.95563G>C (p.Glu31855Gln) c.77326G>C (p.Glu25776Gln) c.67180G>C (p.Glu22394Gln) | |
2 | g.178532184C>T | CA349411750 | TTN,TTN-AS1 | c.96727G>A (p.Glu32243Lys) c.77812G>A (p.Glu25938Lys) c.77611G>A (p.Glu25871Lys) c.77236G>A (p.Glu25746Lys) c.104431G>A (p.Glu34811Lys) c.99508G>A (p.Glu33170Lys) n.446+8548C>T n.220-3548C>T c.103528G>A (p.Glu34510Lys) c.77422G>A (p.Glu25808Lys) c.77281G>A (p.Glu25761Lys) c.103324G>A (p.Glu34442Lys) c.98722G>A (p.Glu32908Lys) c.98719G>A (p.Glu32907Lys) c.95761G>A (p.Glu31921Lys) c.77377G>A (p.Glu25793Lys) c.98872G>A (p.Glu32958Lys) c.98869G>A (p.Glu32957Lys) c.98302G>A (p.Glu32768Lys) c.95644G>A (p.Glu31882Lys) c.95563G>A (p.Glu31855Lys) c.77326G>A (p.Glu25776Lys) c.67180G>A (p.Glu22394Lys) | |
2 | g.178532185T>A | CA430235916 | TTN,TTN-AS1 | c.96726A>T (p.Thr32242=) c.77811A>T (p.Thr25937=) c.77610A>T (p.Thr25870=) c.77235A>T (p.Thr25745=) c.104430A>T (p.Thr34810=) c.99507A>T (p.Thr33169=) n.446+8549T>A n.220-3547T>A c.103527A>T (p.Thr34509=) c.77421A>T (p.Thr25807=) c.77280A>T (p.Thr25760=) c.103323A>T (p.Thr34441=) c.98721A>T (p.Thr32907=) c.98718A>T (p.Thr32906=) c.95760A>T (p.Thr31920=) c.77376A>T (p.Thr25792=) c.98871A>T (p.Thr32957=) c.98868A>T (p.Thr32956=) c.98301A>T (p.Thr32767=) c.95643A>T (p.Thr31881=) c.95562A>T (p.Thr31854=) c.77325A>T (p.Thr25775=) c.67179A>T (p.Thr22393=) | |
2 | g.178532185T>C | CA430235915 | TTN,TTN-AS1 | c.96726A>G (p.Thr32242=) c.77811A>G (p.Thr25937=) c.77610A>G (p.Thr25870=) c.77235A>G (p.Thr25745=) c.104430A>G (p.Thr34810=) c.99507A>G (p.Thr33169=) n.446+8549T>C n.220-3547T>C c.103527A>G (p.Thr34509=) c.77421A>G (p.Thr25807=) c.77280A>G (p.Thr25760=) c.103323A>G (p.Thr34441=) c.98721A>G (p.Thr32907=) c.98718A>G (p.Thr32906=) c.95760A>G (p.Thr31920=) c.77376A>G (p.Thr25792=) c.98871A>G (p.Thr32957=) c.98868A>G (p.Thr32956=) c.98301A>G (p.Thr32767=) c.95643A>G (p.Thr31881=) c.95562A>G (p.Thr31854=) c.77325A>G (p.Thr25775=) c.67179A>G (p.Thr22393=) | |
2 | g.178532185T>G | CA430235914 | TTN,TTN-AS1 | c.96726A>C (p.Thr32242=) c.77811A>C (p.Thr25937=) c.77610A>C (p.Thr25870=) c.77235A>C (p.Thr25745=) c.104430A>C (p.Thr34810=) c.99507A>C (p.Thr33169=) n.446+8549T>G n.220-3547T>G c.103527A>C (p.Thr34509=) c.77421A>C (p.Thr25807=) c.77280A>C (p.Thr25760=) c.103323A>C (p.Thr34441=) c.98721A>C (p.Thr32907=) c.98718A>C (p.Thr32906=) c.95760A>C (p.Thr31920=) c.77376A>C (p.Thr25792=) c.98871A>C (p.Thr32957=) c.98868A>C (p.Thr32956=) c.98301A>C (p.Thr32767=) c.95643A>C (p.Thr31881=) c.95562A>C (p.Thr31854=) c.77325A>C (p.Thr25775=) c.67179A>C (p.Thr22393=) | |
2 | g.178532186G>A | CA349411753 | TTN,TTN-AS1 | c.96725C>T (p.Thr32242Ile) c.77810C>T (p.Thr25937Ile) c.77609C>T (p.Thr25870Ile) c.77234C>T (p.Thr25745Ile) c.104429C>T (p.Thr34810Ile) c.99506C>T (p.Thr33169Ile) n.446+8550G>A n.220-3546G>A c.103526C>T (p.Thr34509Ile) c.77420C>T (p.Thr25807Ile) c.77279C>T (p.Thr25760Ile) c.103322C>T (p.Thr34441Ile) c.98720C>T (p.Thr32907Ile) c.98717C>T (p.Thr32906Ile) c.95759C>T (p.Thr31920Ile) c.77375C>T (p.Thr25792Ile) c.98870C>T (p.Thr32957Ile) c.98867C>T (p.Thr32956Ile) c.98300C>T (p.Thr32767Ile) c.95642C>T (p.Thr31881Ile) c.95561C>T (p.Thr31854Ile) c.77324C>T (p.Thr25775Ile) c.67178C>T (p.Thr22393Ile) | |
2 | g.178532186G>C | CA349411751 | TTN,TTN-AS1 | c.96725C>G (p.Thr32242Arg) c.77810C>G (p.Thr25937Arg) c.77609C>G (p.Thr25870Arg) c.77234C>G (p.Thr25745Arg) c.104429C>G (p.Thr34810Arg) c.99506C>G (p.Thr33169Arg) n.446+8550G>C n.220-3546G>C c.103526C>G (p.Thr34509Arg) c.77420C>G (p.Thr25807Arg) c.77279C>G (p.Thr25760Arg) c.103322C>G (p.Thr34441Arg) c.98720C>G (p.Thr32907Arg) c.98717C>G (p.Thr32906Arg) c.95759C>G (p.Thr31920Arg) c.77375C>G (p.Thr25792Arg) c.98870C>G (p.Thr32957Arg) c.98867C>G (p.Thr32956Arg) c.98300C>G (p.Thr32767Arg) c.95642C>G (p.Thr31881Arg) c.95561C>G (p.Thr31854Arg) c.77324C>G (p.Thr25775Arg) c.67178C>G (p.Thr22393Arg) | |
2 | g.178532186G>T | CA349411752 | TTN,TTN-AS1 | c.96725C>A (p.Thr32242Lys) c.77810C>A (p.Thr25937Lys) c.77609C>A (p.Thr25870Lys) c.77234C>A (p.Thr25745Lys) c.104429C>A (p.Thr34810Lys) c.99506C>A (p.Thr33169Lys) n.446+8550G>T n.220-3546G>T c.103526C>A (p.Thr34509Lys) c.77420C>A (p.Thr25807Lys) c.77279C>A (p.Thr25760Lys) c.103322C>A (p.Thr34441Lys) c.98720C>A (p.Thr32907Lys) c.98717C>A (p.Thr32906Lys) c.95759C>A (p.Thr31920Lys) c.77375C>A (p.Thr25792Lys) c.98870C>A (p.Thr32957Lys) c.98867C>A (p.Thr32956Lys) c.98300C>A (p.Thr32767Lys) c.95642C>A (p.Thr31881Lys) c.95561C>A (p.Thr31854Lys) c.77324C>A (p.Thr25775Lys) c.67178C>A (p.Thr22393Lys) | |
2 | g.178532187T>A | CA349411754 | TTN,TTN-AS1 | c.96724A>T (p.Thr32242Ser) c.77809A>T (p.Thr25937Ser) c.77608A>T (p.Thr25870Ser) c.77233A>T (p.Thr25745Ser) c.104428A>T (p.Thr34810Ser) c.99505A>T (p.Thr33169Ser) n.446+8551T>A n.220-3545T>A c.103525A>T (p.Thr34509Ser) c.77419A>T (p.Thr25807Ser) c.77278A>T (p.Thr25760Ser) c.103321A>T (p.Thr34441Ser) c.98719A>T (p.Thr32907Ser) c.98716A>T (p.Thr32906Ser) c.95758A>T (p.Thr31920Ser) c.77374A>T (p.Thr25792Ser) c.98869A>T (p.Thr32957Ser) c.98866A>T (p.Thr32956Ser) c.98299A>T (p.Thr32767Ser) c.95641A>T (p.Thr31881Ser) c.95560A>T (p.Thr31854Ser) c.77323A>T (p.Thr25775Ser) c.67177A>T (p.Thr22393Ser) | |
2 | g.178532187T>C | CA349411755 | TTN,TTN-AS1 | c.96724A>G (p.Thr32242Ala) c.77809A>G (p.Thr25937Ala) c.77608A>G (p.Thr25870Ala) c.77233A>G (p.Thr25745Ala) c.104428A>G (p.Thr34810Ala) c.99505A>G (p.Thr33169Ala) n.446+8551T>C n.220-3545T>C c.103525A>G (p.Thr34509Ala) c.77419A>G (p.Thr25807Ala) c.77278A>G (p.Thr25760Ala) c.103321A>G (p.Thr34441Ala) c.98719A>G (p.Thr32907Ala) c.98716A>G (p.Thr32906Ala) c.95758A>G (p.Thr31920Ala) c.77374A>G (p.Thr25792Ala) c.98869A>G (p.Thr32957Ala) c.98866A>G (p.Thr32956Ala) c.98299A>G (p.Thr32767Ala) c.95641A>G (p.Thr31881Ala) c.95560A>G (p.Thr31854Ala) c.77323A>G (p.Thr25775Ala) c.67177A>G (p.Thr22393Ala) | |
2 | g.178532187T>G | CA349411756 | TTN,TTN-AS1 | c.96724A>C (p.Thr32242Pro) c.77809A>C (p.Thr25937Pro) c.77608A>C (p.Thr25870Pro) c.77233A>C (p.Thr25745Pro) c.104428A>C (p.Thr34810Pro) c.99505A>C (p.Thr33169Pro) n.446+8551T>G n.220-3545T>G c.103525A>C (p.Thr34509Pro) c.77419A>C (p.Thr25807Pro) c.77278A>C (p.Thr25760Pro) c.103321A>C (p.Thr34441Pro) c.98719A>C (p.Thr32907Pro) c.98716A>C (p.Thr32906Pro) c.95758A>C (p.Thr31920Pro) c.77374A>C (p.Thr25792Pro) c.98869A>C (p.Thr32957Pro) c.98866A>C (p.Thr32956Pro) c.98299A>C (p.Thr32767Pro) c.95641A>C (p.Thr31881Pro) c.95560A>C (p.Thr31854Pro) c.77323A>C (p.Thr25775Pro) c.67177A>C (p.Thr22393Pro) | |
2 | g.178532188C>A | CA430235917 | TTN,TTN-AS1 | c.96723G>T (p.Val32241=) c.77808G>T (p.Val25936=) c.77607G>T (p.Val25869=) c.77232G>T (p.Val25744=) c.104427G>T (p.Val34809=) c.99504G>T (p.Val33168=) n.446+8552C>A n.220-3544C>A c.103524G>T (p.Val34508=) c.77418G>T (p.Val25806=) c.77277G>T (p.Val25759=) c.103320G>T (p.Val34440=) c.98718G>T (p.Val32906=) c.98715G>T (p.Val32905=) c.95757G>T (p.Val31919=) c.77373G>T (p.Val25791=) c.98868G>T (p.Val32956=) c.98865G>T (p.Val32955=) c.98298G>T (p.Val32766=) c.95640G>T (p.Val31880=) c.95559G>T (p.Val31853=) c.77322G>T (p.Val25774=) c.67176G>T (p.Val22392=) | |
2 | g.178532188C>G | CA430235919 | TTN,TTN-AS1 | c.96723G>C (p.Val32241=) c.77808G>C (p.Val25936=) c.77607G>C (p.Val25869=) c.77232G>C (p.Val25744=) c.104427G>C (p.Val34809=) c.99504G>C (p.Val33168=) n.446+8552C>G n.220-3544C>G c.103524G>C (p.Val34508=) c.77418G>C (p.Val25806=) c.77277G>C (p.Val25759=) c.103320G>C (p.Val34440=) c.98718G>C (p.Val32906=) c.98715G>C (p.Val32905=) c.95757G>C (p.Val31919=) c.77373G>C (p.Val25791=) c.98868G>C (p.Val32956=) c.98865G>C (p.Val32955=) c.98298G>C (p.Val32766=) c.95640G>C (p.Val31880=) c.95559G>C (p.Val31853=) c.77322G>C (p.Val25774=) c.67176G>C (p.Val22392=) | |
2 | g.178532188C>T | CA430235918 | TTN,TTN-AS1 | c.96723G>A (p.Val32241=) c.77808G>A (p.Val25936=) c.77607G>A (p.Val25869=) c.77232G>A (p.Val25744=) c.104427G>A (p.Val34809=) c.99504G>A (p.Val33168=) n.446+8552C>T n.220-3544C>T c.103524G>A (p.Val34508=) c.77418G>A (p.Val25806=) c.77277G>A (p.Val25759=) c.103320G>A (p.Val34440=) c.98718G>A (p.Val32906=) c.98715G>A (p.Val32905=) c.95757G>A (p.Val31919=) c.77373G>A (p.Val25791=) c.98868G>A (p.Val32956=) c.98865G>A (p.Val32955=) c.98298G>A (p.Val32766=) c.95640G>A (p.Val31880=) c.95559G>A (p.Val31853=) c.77322G>A (p.Val25774=) c.67176G>A (p.Val22392=) | |
2 | g.178532189A>C | CA349411757 | TTN,TTN-AS1 | c.96722T>G (p.Val32241Gly) c.77807T>G (p.Val25936Gly) c.77606T>G (p.Val25869Gly) c.77231T>G (p.Val25744Gly) c.104426T>G (p.Val34809Gly) c.99503T>G (p.Val33168Gly) n.446+8553A>C n.220-3543A>C c.103523T>G (p.Val34508Gly) c.77417T>G (p.Val25806Gly) c.77276T>G (p.Val25759Gly) c.103319T>G (p.Val34440Gly) c.98717T>G (p.Val32906Gly) c.98714T>G (p.Val32905Gly) c.95756T>G (p.Val31919Gly) c.77372T>G (p.Val25791Gly) c.98867T>G (p.Val32956Gly) c.98864T>G (p.Val32955Gly) c.98297T>G (p.Val32766Gly) c.95639T>G (p.Val31880Gly) c.95558T>G (p.Val31853Gly) c.77321T>G (p.Val25774Gly) c.67175T>G (p.Val22392Gly) | |
2 | g.178532189A>G | CA349411758 | TTN,TTN-AS1 | c.96722T>C (p.Val32241Ala) c.77807T>C (p.Val25936Ala) c.77606T>C (p.Val25869Ala) c.77231T>C (p.Val25744Ala) c.104426T>C (p.Val34809Ala) c.99503T>C (p.Val33168Ala) n.446+8553A>G n.220-3543A>G c.103523T>C (p.Val34508Ala) c.77417T>C (p.Val25806Ala) c.77276T>C (p.Val25759Ala) c.103319T>C (p.Val34440Ala) c.98717T>C (p.Val32906Ala) c.98714T>C (p.Val32905Ala) c.95756T>C (p.Val31919Ala) c.77372T>C (p.Val25791Ala) c.98867T>C (p.Val32956Ala) c.98864T>C (p.Val32955Ala) c.98297T>C (p.Val32766Ala) c.95639T>C (p.Val31880Ala) c.95558T>C (p.Val31853Ala) c.77321T>C (p.Val25774Ala) c.67175T>C (p.Val22392Ala) | |
2 | g.178532189A>T | CA349411759 | TTN,TTN-AS1 | c.96722T>A (p.Val32241Glu) c.77807T>A (p.Val25936Glu) c.77606T>A (p.Val25869Glu) c.77231T>A (p.Val25744Glu) c.104426T>A (p.Val34809Glu) c.99503T>A (p.Val33168Glu) n.446+8553A>T n.220-3543A>T c.103523T>A (p.Val34508Glu) c.77417T>A (p.Val25806Glu) c.77276T>A (p.Val25759Glu) c.103319T>A (p.Val34440Glu) c.98717T>A (p.Val32906Glu) c.98714T>A (p.Val32905Glu) c.95756T>A (p.Val31919Glu) c.77372T>A (p.Val25791Glu) c.98867T>A (p.Val32956Glu) c.98864T>A (p.Val32955Glu) c.98297T>A (p.Val32766Glu) c.95639T>A (p.Val31880Glu) c.95558T>A (p.Val31853Glu) c.77321T>A (p.Val25774Glu) c.67175T>A (p.Val22392Glu) | |
2 | g.178532189_178532194delinsACTTCT | CA1310518115 | TTN,TTN-AS1 | c.96717_96722delinsAGAAGT (p.Arg32239=) c.77802_77807delinsAGAAGT (p.Arg25934=) c.77601_77606delinsAGAAGT (p.Arg25867=) c.77226_77231delinsAGAAGT (p.Arg25742=) c.104421_104426delinsAGAAGT (p.Arg34807=) c.99498_99503delinsAGAAGT (p.Arg33166=) n.446+8553_446+8558delinsACTTCT n.220-3543_220-3538delinsACTTCT c.103518_103523delinsAGAAGT (p.Arg34506=) c.77412_77417delinsAGAAGT (p.Arg25804=) c.77271_77276delinsAGAAGT (p.Arg25757=) c.103314_103319delinsAGAAGT (p.Arg34438=) c.98712_98717delinsAGAAGT (p.Arg32904=) c.98709_98714delinsAGAAGT (p.Arg32903=) c.95751_95756delinsAGAAGT (p.Arg31917=) c.77367_77372delinsAGAAGT (p.Arg25789=) c.98862_98867delinsAGAAGT (p.Arg32954=) c.98859_98864delinsAGAAGT (p.Arg32953=) c.98292_98297delinsAGAAGT (p.Arg32764=) c.95634_95639delinsAGAAGT (p.Arg31878=) c.95553_95558delinsAGAAGT (p.Arg31851=) c.77316_77321delinsAGAAGT (p.Arg25772=) c.67170_67175delinsAGAAGT (p.Arg22390=) | |
2 | g.178532190C>A | CA349411760 | TTN,TTN-AS1 | c.96721G>T (p.Val32241Leu) c.77806G>T (p.Val25936Leu) c.77605G>T (p.Val25869Leu) c.77230G>T (p.Val25744Leu) c.104425G>T (p.Val34809Leu) c.99502G>T (p.Val33168Leu) n.446+8554C>A n.220-3542C>A c.103522G>T (p.Val34508Leu) c.77416G>T (p.Val25806Leu) c.77275G>T (p.Val25759Leu) c.103318G>T (p.Val34440Leu) c.98716G>T (p.Val32906Leu) c.98713G>T (p.Val32905Leu) c.95755G>T (p.Val31919Leu) c.77371G>T (p.Val25791Leu) c.98866G>T (p.Val32956Leu) c.98863G>T (p.Val32955Leu) c.98296G>T (p.Val32766Leu) c.95638G>T (p.Val31880Leu) c.95557G>T (p.Val31853Leu) c.77320G>T (p.Val25774Leu) c.67174G>T (p.Val22392Leu) | |
2 | g.178532190C= | CA1310518116 | TTN,TTN-AS1 | c.96721G= (p.Val32241=) c.77806G= (p.Val25936=) c.77605G= (p.Val25869=) c.77230G= (p.Val25744=) c.104425G= (p.Val34809=) c.99502G= (p.Val33168=) n.446+8554C= n.220-3542C= c.103522G= (p.Val34508=) c.77416G= (p.Val25806=) c.77275G= (p.Val25759=) c.103318G= (p.Val34440=) c.98716G= (p.Val32906=) c.98713G= (p.Val32905=) c.95755G= (p.Val31919=) c.77371G= (p.Val25791=) c.98866G= (p.Val32956=) c.98863G= (p.Val32955=) c.98296G= (p.Val32766=) c.95638G= (p.Val31880=) c.95557G= (p.Val31853=) c.77320G= (p.Val25774=) c.67174G= (p.Val22392=) | |
2 | g.178532190C>G | CA1985429 | TTN,TTN-AS1 | c.96721G>C (p.Val32241Leu) c.77806G>C (p.Val25936Leu) c.77605G>C (p.Val25869Leu) c.77230G>C (p.Val25744Leu) c.104425G>C (p.Val34809Leu) c.99502G>C (p.Val33168Leu) n.446+8554C>G n.220-3542C>G c.103522G>C (p.Val34508Leu) c.77416G>C (p.Val25806Leu) c.77275G>C (p.Val25759Leu) c.103318G>C (p.Val34440Leu) c.98716G>C (p.Val32906Leu) c.98713G>C (p.Val32905Leu) c.95755G>C (p.Val31919Leu) c.77371G>C (p.Val25791Leu) c.98866G>C (p.Val32956Leu) c.98863G>C (p.Val32955Leu) c.98296G>C (p.Val32766Leu) c.95638G>C (p.Val31880Leu) c.95557G>C (p.Val31853Leu) c.77320G>C (p.Val25774Leu) c.67174G>C (p.Val22392Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178532190C>T | CA1985428 | TTN,TTN-AS1 | c.96721G>A (p.Val32241Met) c.77806G>A (p.Val25936Met) c.77605G>A (p.Val25869Met) c.77230G>A (p.Val25744Met) c.104425G>A (p.Val34809Met) c.99502G>A (p.Val33168Met) n.446+8554C>T n.220-3542C>T c.103522G>A (p.Val34508Met) c.77416G>A (p.Val25806Met) c.77275G>A (p.Val25759Met) c.103318G>A (p.Val34440Met) c.98716G>A (p.Val32906Met) c.98713G>A (p.Val32905Met) c.95755G>A (p.Val31919Met) c.77371G>A (p.Val25791Met) c.98866G>A (p.Val32956Met) c.98863G>A (p.Val32955Met) c.98296G>A (p.Val32766Met) c.95638G>A (p.Val31880Met) c.95557G>A (p.Val31853Met) c.77320G>A (p.Val25774Met) c.67174G>A (p.Val22392Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178532193_178532197del | CA1310518117 | TTN,TTN-AS1 | c.96717_96721del (p.Arg32239SerfsTer8) c.77802_77806del (p.Arg25934SerfsTer8) c.77601_77605del (p.Arg25867SerfsTer8) c.77226_77230del (p.Arg25742SerfsTer8) c.104421_104425del (p.Arg34807SerfsTer8) c.99498_99502del (p.Arg33166SerfsTer8) n.446+8557_446+8561del n.220-3539_220-3535del c.103518_103522del (p.Arg34506SerfsTer8) c.77412_77416del (p.Arg25804SerfsTer8) c.77271_77275del (p.Arg25757SerfsTer8) c.103314_103318del (p.Arg34438SerfsTer8) c.98712_98716del (p.Arg32904SerfsTer8) c.98709_98713del (p.Arg32903SerfsTer8) c.95751_95755del (p.Arg31917SerfsTer8) c.77367_77371del (p.Arg25789SerfsTer8) c.98862_98866del (p.Arg32954SerfsTer8) c.98859_98863del (p.Arg32953SerfsTer8) c.98292_98296del (p.Arg32764SerfsTer8) c.95634_95638del (p.Arg31878SerfsTer8) c.95553_95557del (p.Arg31851SerfsTer8) c.77316_77320del (p.Arg25772SerfsTer8) c.67170_67174del (p.Arg22390SerfsTer8) | ClinVar dbSNP |
2 | g.178532191T>A | CA349411761 | TTN,TTN-AS1 | c.96720A>T (p.Glu32240Asp) c.77805A>T (p.Glu25935Asp) c.77604A>T (p.Glu25868Asp) c.77229A>T (p.Glu25743Asp) c.104424A>T (p.Glu34808Asp) c.99501A>T (p.Glu33167Asp) n.446+8555T>A n.220-3541T>A c.103521A>T (p.Glu34507Asp) c.77415A>T (p.Glu25805Asp) c.77274A>T (p.Glu25758Asp) c.103317A>T (p.Glu34439Asp) c.98715A>T (p.Glu32905Asp) c.98712A>T (p.Glu32904Asp) c.95754A>T (p.Glu31918Asp) c.77370A>T (p.Glu25790Asp) c.98865A>T (p.Glu32955Asp) c.98862A>T (p.Glu32954Asp) c.98295A>T (p.Glu32765Asp) c.95637A>T (p.Glu31879Asp) c.95556A>T (p.Glu31852Asp) c.77319A>T (p.Glu25773Asp) c.67173A>T (p.Glu22391Asp) | |
2 | g.178532191T>C | CA430235920 | TTN,TTN-AS1 | c.96720A>G (p.Glu32240=) c.77805A>G (p.Glu25935=) c.77604A>G (p.Glu25868=) c.77229A>G (p.Glu25743=) c.104424A>G (p.Glu34808=) c.99501A>G (p.Glu33167=) n.446+8555T>C n.220-3541T>C c.103521A>G (p.Glu34507=) c.77415A>G (p.Glu25805=) c.77274A>G (p.Glu25758=) c.103317A>G (p.Glu34439=) c.98715A>G (p.Glu32905=) c.98712A>G (p.Glu32904=) c.95754A>G (p.Glu31918=) c.77370A>G (p.Glu25790=) c.98865A>G (p.Glu32955=) c.98862A>G (p.Glu32954=) c.98295A>G (p.Glu32765=) c.95637A>G (p.Glu31879=) c.95556A>G (p.Glu31852=) c.77319A>G (p.Glu25773=) c.67173A>G (p.Glu22391=) | |
2 | g.178532191T>G | CA349411762 | TTN,TTN-AS1 | c.96720A>C (p.Glu32240Asp) c.77805A>C (p.Glu25935Asp) c.77604A>C (p.Glu25868Asp) c.77229A>C (p.Glu25743Asp) c.104424A>C (p.Glu34808Asp) c.99501A>C (p.Glu33167Asp) n.446+8555T>G n.220-3541T>G c.103521A>C (p.Glu34507Asp) c.77415A>C (p.Glu25805Asp) c.77274A>C (p.Glu25758Asp) c.103317A>C (p.Glu34439Asp) c.98715A>C (p.Glu32905Asp) c.98712A>C (p.Glu32904Asp) c.95754A>C (p.Glu31918Asp) c.77370A>C (p.Glu25790Asp) c.98865A>C (p.Glu32955Asp) c.98862A>C (p.Glu32954Asp) c.98295A>C (p.Glu32765Asp) c.95637A>C (p.Glu31879Asp) c.95556A>C (p.Glu31852Asp) c.77319A>C (p.Glu25773Asp) c.67173A>C (p.Glu22391Asp) | |
2 | g.178532192T>A | CA349411765 | TTN,TTN-AS1 | c.96719A>T (p.Glu32240Val) c.77804A>T (p.Glu25935Val) c.77603A>T (p.Glu25868Val) c.77228A>T (p.Glu25743Val) c.104423A>T (p.Glu34808Val) c.99500A>T (p.Glu33167Val) n.446+8556T>A n.220-3540T>A c.103520A>T (p.Glu34507Val) c.77414A>T (p.Glu25805Val) c.77273A>T (p.Glu25758Val) c.103316A>T (p.Glu34439Val) c.98714A>T (p.Glu32905Val) c.98711A>T (p.Glu32904Val) c.95753A>T (p.Glu31918Val) c.77369A>T (p.Glu25790Val) c.98864A>T (p.Glu32955Val) c.98861A>T (p.Glu32954Val) c.98294A>T (p.Glu32765Val) c.95636A>T (p.Glu31879Val) c.95555A>T (p.Glu31852Val) c.77318A>T (p.Glu25773Val) c.67172A>T (p.Glu22391Val) | |
2 | g.178532192T>C | CA349411764 | TTN,TTN-AS1 | c.96719A>G (p.Glu32240Gly) c.77804A>G (p.Glu25935Gly) c.77603A>G (p.Glu25868Gly) c.77228A>G (p.Glu25743Gly) c.104423A>G (p.Glu34808Gly) c.99500A>G (p.Glu33167Gly) n.446+8556T>C n.220-3540T>C c.103520A>G (p.Glu34507Gly) c.77414A>G (p.Glu25805Gly) c.77273A>G (p.Glu25758Gly) c.103316A>G (p.Glu34439Gly) c.98714A>G (p.Glu32905Gly) c.98711A>G (p.Glu32904Gly) c.95753A>G (p.Glu31918Gly) c.77369A>G (p.Glu25790Gly) c.98864A>G (p.Glu32955Gly) c.98861A>G (p.Glu32954Gly) c.98294A>G (p.Glu32765Gly) c.95636A>G (p.Glu31879Gly) c.95555A>G (p.Glu31852Gly) c.77318A>G (p.Glu25773Gly) c.67172A>G (p.Glu22391Gly) | |
2 | g.178532192T>G | CA349411763 | TTN,TTN-AS1 | c.96719A>C (p.Glu32240Ala) c.77804A>C (p.Glu25935Ala) c.77603A>C (p.Glu25868Ala) c.77228A>C (p.Glu25743Ala) c.104423A>C (p.Glu34808Ala) c.99500A>C (p.Glu33167Ala) n.446+8556T>G n.220-3540T>G c.103520A>C (p.Glu34507Ala) c.77414A>C (p.Glu25805Ala) c.77273A>C (p.Glu25758Ala) c.103316A>C (p.Glu34439Ala) c.98714A>C (p.Glu32905Ala) c.98711A>C (p.Glu32904Ala) c.95753A>C (p.Glu31918Ala) c.77369A>C (p.Glu25790Ala) c.98864A>C (p.Glu32955Ala) c.98861A>C (p.Glu32954Ala) c.98294A>C (p.Glu32765Ala) c.95636A>C (p.Glu31879Ala) c.95555A>C (p.Glu31852Ala) c.77318A>C (p.Glu25773Ala) c.67172A>C (p.Glu22391Ala) | |
2 | g.178532193C>A | CA349411766 | TTN,TTN-AS1 | c.96718G>T (p.Glu32240Ter) c.77803G>T (p.Glu25935Ter) c.77602G>T (p.Glu25868Ter) c.77227G>T (p.Glu25743Ter) c.104422G>T (p.Glu34808Ter) c.99499G>T (p.Glu33167Ter) n.446+8557C>A n.220-3539C>A c.103519G>T (p.Glu34507Ter) c.77413G>T (p.Glu25805Ter) c.77272G>T (p.Glu25758Ter) c.103315G>T (p.Glu34439Ter) c.98713G>T (p.Glu32905Ter) c.98710G>T (p.Glu32904Ter) c.95752G>T (p.Glu31918Ter) c.77368G>T (p.Glu25790Ter) c.98863G>T (p.Glu32955Ter) c.98860G>T (p.Glu32954Ter) c.98293G>T (p.Glu32765Ter) c.95635G>T (p.Glu31879Ter) c.95554G>T (p.Glu31852Ter) c.77317G>T (p.Glu25773Ter) c.67171G>T (p.Glu22391Ter) | |
2 | g.178532193C= | CA1310518118 | TTN,TTN-AS1 | c.96718G= (p.Glu32240=) c.77803G= (p.Glu25935=) c.77602G= (p.Glu25868=) c.77227G= (p.Glu25743=) c.104422G= (p.Glu34808=) c.99499G= (p.Glu33167=) n.446+8557C= n.220-3539C= c.103519G= (p.Glu34507=) c.77413G= (p.Glu25805=) c.77272G= (p.Glu25758=) c.103315G= (p.Glu34439=) c.98713G= (p.Glu32905=) c.98710G= (p.Glu32904=) c.95752G= (p.Glu31918=) c.77368G= (p.Glu25790=) c.98863G= (p.Glu32955=) c.98860G= (p.Glu32954=) c.98293G= (p.Glu32765=) c.95635G= (p.Glu31879=) c.95554G= (p.Glu31852=) c.77317G= (p.Glu25773=) c.67171G= (p.Glu22391=) | |
2 | g.178532193C>G | CA349411767 | TTN,TTN-AS1 | c.96718G>C (p.Glu32240Gln) c.77803G>C (p.Glu25935Gln) c.77602G>C (p.Glu25868Gln) c.77227G>C (p.Glu25743Gln) c.104422G>C (p.Glu34808Gln) c.99499G>C (p.Glu33167Gln) n.446+8557C>G n.220-3539C>G c.103519G>C (p.Glu34507Gln) c.77413G>C (p.Glu25805Gln) c.77272G>C (p.Glu25758Gln) c.103315G>C (p.Glu34439Gln) c.98713G>C (p.Glu32905Gln) c.98710G>C (p.Glu32904Gln) c.95752G>C (p.Glu31918Gln) c.77368G>C (p.Glu25790Gln) c.98863G>C (p.Glu32955Gln) c.98860G>C (p.Glu32954Gln) c.98293G>C (p.Glu32765Gln) c.95635G>C (p.Glu31879Gln) c.95554G>C (p.Glu31852Gln) c.77317G>C (p.Glu25773Gln) c.67171G>C (p.Glu22391Gln) | COSMIC COSMIC COSMIC |
2 | g.178532193C>T | CA349411768 | TTN,TTN-AS1 | c.96718G>A (p.Glu32240Lys) c.77803G>A (p.Glu25935Lys) c.77602G>A (p.Glu25868Lys) c.77227G>A (p.Glu25743Lys) c.104422G>A (p.Glu34808Lys) c.99499G>A (p.Glu33167Lys) n.446+8557C>T n.220-3539C>T c.103519G>A (p.Glu34507Lys) c.77413G>A (p.Glu25805Lys) c.77272G>A (p.Glu25758Lys) c.103315G>A (p.Glu34439Lys) c.98713G>A (p.Glu32905Lys) c.98710G>A (p.Glu32904Lys) c.95752G>A (p.Glu31918Lys) c.77368G>A (p.Glu25790Lys) c.98863G>A (p.Glu32955Lys) c.98860G>A (p.Glu32954Lys) c.98293G>A (p.Glu32765Lys) c.95635G>A (p.Glu31879Lys) c.95554G>A (p.Glu31852Lys) c.77317G>A (p.Glu25773Lys) c.67171G>A (p.Glu22391Lys) | ClinVar dbSNP |
2 | g.178532194T>A | CA349411769 | TTN,TTN-AS1 | c.96717A>T (p.Arg32239Ser) c.77802A>T (p.Arg25934Ser) c.77601A>T (p.Arg25867Ser) c.77226A>T (p.Arg25742Ser) c.104421A>T (p.Arg34807Ser) c.99498A>T (p.Arg33166Ser) n.446+8558T>A n.220-3538T>A c.103518A>T (p.Arg34506Ser) c.77412A>T (p.Arg25804Ser) c.77271A>T (p.Arg25757Ser) c.103314A>T (p.Arg34438Ser) c.98712A>T (p.Arg32904Ser) c.98709A>T (p.Arg32903Ser) c.95751A>T (p.Arg31917Ser) c.77367A>T (p.Arg25789Ser) c.98862A>T (p.Arg32954Ser) c.98859A>T (p.Arg32953Ser) c.98292A>T (p.Arg32764Ser) c.95634A>T (p.Arg31878Ser) c.95553A>T (p.Arg31851Ser) c.77316A>T (p.Arg25772Ser) c.67170A>T (p.Arg22390Ser) | |
2 | g.178532194T>C | CA430235921 | TTN,TTN-AS1 | c.96717A>G (p.Arg32239=) c.77802A>G (p.Arg25934=) c.77601A>G (p.Arg25867=) c.77226A>G (p.Arg25742=) c.104421A>G (p.Arg34807=) c.99498A>G (p.Arg33166=) n.446+8558T>C n.220-3538T>C c.103518A>G (p.Arg34506=) c.77412A>G (p.Arg25804=) c.77271A>G (p.Arg25757=) c.103314A>G (p.Arg34438=) c.98712A>G (p.Arg32904=) c.98709A>G (p.Arg32903=) c.95751A>G (p.Arg31917=) c.77367A>G (p.Arg25789=) c.98862A>G (p.Arg32954=) c.98859A>G (p.Arg32953=) c.98292A>G (p.Arg32764=) c.95634A>G (p.Arg31878=) c.95553A>G (p.Arg31851=) c.77316A>G (p.Arg25772=) c.67170A>G (p.Arg22390=) | |
2 | g.178532194T>G | CA349411770 | TTN,TTN-AS1 | c.96717A>C (p.Arg32239Ser) c.77802A>C (p.Arg25934Ser) c.77601A>C (p.Arg25867Ser) c.77226A>C (p.Arg25742Ser) c.104421A>C (p.Arg34807Ser) c.99498A>C (p.Arg33166Ser) n.446+8558T>G n.220-3538T>G c.103518A>C (p.Arg34506Ser) c.77412A>C (p.Arg25804Ser) c.77271A>C (p.Arg25757Ser) c.103314A>C (p.Arg34438Ser) c.98712A>C (p.Arg32904Ser) c.98709A>C (p.Arg32903Ser) c.95751A>C (p.Arg31917Ser) c.77367A>C (p.Arg25789Ser) c.98862A>C (p.Arg32954Ser) c.98859A>C (p.Arg32953Ser) c.98292A>C (p.Arg32764Ser) c.95634A>C (p.Arg31878Ser) c.95553A>C (p.Arg31851Ser) c.77316A>C (p.Arg25772Ser) c.67170A>C (p.Arg22390Ser) | ClinVar dbSNP |
2 | g.178532195C>A | CA349411772 | TTN,TTN-AS1 | c.96716G>T (p.Arg32239Ile) c.77801G>T (p.Arg25934Ile) c.77600G>T (p.Arg25867Ile) c.77225G>T (p.Arg25742Ile) c.104420G>T (p.Arg34807Ile) c.99497G>T (p.Arg33166Ile) n.446+8559C>A n.220-3537C>A c.103517G>T (p.Arg34506Ile) c.77411G>T (p.Arg25804Ile) c.77270G>T (p.Arg25757Ile) c.103313G>T (p.Arg34438Ile) c.98711G>T (p.Arg32904Ile) c.98708G>T (p.Arg32903Ile) c.95750G>T (p.Arg31917Ile) c.77366G>T (p.Arg25789Ile) c.98861G>T (p.Arg32954Ile) c.98858G>T (p.Arg32953Ile) c.98291G>T (p.Arg32764Ile) c.95633G>T (p.Arg31878Ile) c.95552G>T (p.Arg31851Ile) c.77315G>T (p.Arg25772Ile) c.67169G>T (p.Arg22390Ile) | |
2 | g.178532195C= | CA1310518119 | TTN,TTN-AS1 | c.96716G= (p.Arg32239=) c.77801G= (p.Arg25934=) c.77600G= (p.Arg25867=) c.77225G= (p.Arg25742=) c.104420G= (p.Arg34807=) c.99497G= (p.Arg33166=) n.446+8559C= n.220-3537C= c.103517G= (p.Arg34506=) c.77411G= (p.Arg25804=) c.77270G= (p.Arg25757=) c.103313G= (p.Arg34438=) c.98711G= (p.Arg32904=) c.98708G= (p.Arg32903=) c.95750G= (p.Arg31917=) c.77366G= (p.Arg25789=) c.98861G= (p.Arg32954=) c.98858G= (p.Arg32953=) c.98291G= (p.Arg32764=) c.95633G= (p.Arg31878=) c.95552G= (p.Arg31851=) c.77315G= (p.Arg25772=) c.67169G= (p.Arg22390=) | |
2 | g.178532195C>G | CA60956233 | TTN,TTN-AS1 | c.96716G>C (p.Arg32239Thr) c.77801G>C (p.Arg25934Thr) c.77600G>C (p.Arg25867Thr) c.77225G>C (p.Arg25742Thr) c.104420G>C (p.Arg34807Thr) c.99497G>C (p.Arg33166Thr) n.446+8559C>G n.220-3537C>G c.103517G>C (p.Arg34506Thr) c.77411G>C (p.Arg25804Thr) c.77270G>C (p.Arg25757Thr) c.103313G>C (p.Arg34438Thr) c.98711G>C (p.Arg32904Thr) c.98708G>C (p.Arg32903Thr) c.95750G>C (p.Arg31917Thr) c.77366G>C (p.Arg25789Thr) c.98861G>C (p.Arg32954Thr) c.98858G>C (p.Arg32953Thr) c.98291G>C (p.Arg32764Thr) c.95633G>C (p.Arg31878Thr) c.95552G>C (p.Arg31851Thr) c.77315G>C (p.Arg25772Thr) c.67169G>C (p.Arg22390Thr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178532195C>T | CA349411773 | TTN,TTN-AS1 | c.96716G>A (p.Arg32239Lys) c.77801G>A (p.Arg25934Lys) c.77600G>A (p.Arg25867Lys) c.77225G>A (p.Arg25742Lys) c.104420G>A (p.Arg34807Lys) c.99497G>A (p.Arg33166Lys) n.446+8559C>T n.220-3537C>T c.103517G>A (p.Arg34506Lys) c.77411G>A (p.Arg25804Lys) c.77270G>A (p.Arg25757Lys) c.103313G>A (p.Arg34438Lys) c.98711G>A (p.Arg32904Lys) c.98708G>A (p.Arg32903Lys) c.95750G>A (p.Arg31917Lys) c.77366G>A (p.Arg25789Lys) c.98861G>A (p.Arg32954Lys) c.98858G>A (p.Arg32953Lys) c.98291G>A (p.Arg32764Lys) c.95633G>A (p.Arg31878Lys) c.95552G>A (p.Arg31851Lys) c.77315G>A (p.Arg25772Lys) c.67169G>A (p.Arg22390Lys) | ClinVar dbSNP gnomAD v4 |
2 | g.178532195_178532197delinsCTT | CA1310518120 | TTN,TTN-AS1 | c.96714_96716delinsAAG (p.Gln32238=) c.77799_77801delinsAAG (p.Gln25933=) c.77598_77600delinsAAG (p.Gln25866=) c.77223_77225delinsAAG (p.Gln25741=) c.104418_104420delinsAAG (p.Gln34806=) c.99495_99497delinsAAG (p.Gln33165=) n.446+8559_446+8561delinsCTT n.220-3537_220-3535delinsCTT c.103515_103517delinsAAG (p.Gln34505=) c.77409_77411delinsAAG (p.Gln25803=) c.77268_77270delinsAAG (p.Gln25756=) c.103311_103313delinsAAG (p.Gln34437=) c.98709_98711delinsAAG (p.Gln32903=) c.98706_98708delinsAAG (p.Gln32902=) c.95748_95750delinsAAG (p.Gln31916=) c.77364_77366delinsAAG (p.Gln25788=) c.98859_98861delinsAAG (p.Gln32953=) c.98856_98858delinsAAG (p.Gln32952=) c.98289_98291delinsAAG (p.Gln32763=) c.95631_95633delinsAAG (p.Gln31877=) c.95550_95552delinsAAG (p.Gln31850=) c.77313_77315delinsAAG (p.Gln25771=) c.67167_67169delinsAAG (p.Gln22389=) | |
2 | g.178532196T>A | CA349411774 | TTN,TTN-AS1 | c.96715A>T (p.Arg32239Ter) c.77800A>T (p.Arg25934Ter) c.77599A>T (p.Arg25867Ter) c.77224A>T (p.Arg25742Ter) c.104419A>T (p.Arg34807Ter) c.99496A>T (p.Arg33166Ter) n.446+8560T>A n.220-3536T>A c.103516A>T (p.Arg34506Ter) c.77410A>T (p.Arg25804Ter) c.77269A>T (p.Arg25757Ter) c.103312A>T (p.Arg34438Ter) c.98710A>T (p.Arg32904Ter) c.98707A>T (p.Arg32903Ter) c.95749A>T (p.Arg31917Ter) c.77365A>T (p.Arg25789Ter) c.98860A>T (p.Arg32954Ter) c.98857A>T (p.Arg32953Ter) c.98290A>T (p.Arg32764Ter) c.95632A>T (p.Arg31878Ter) c.95551A>T (p.Arg31851Ter) c.77314A>T (p.Arg25772Ter) c.67168A>T (p.Arg22390Ter) | |
2 | g.178532196T>C | CA349411775 | TTN,TTN-AS1 | c.96715A>G (p.Arg32239Gly) c.77800A>G (p.Arg25934Gly) c.77599A>G (p.Arg25867Gly) c.77224A>G (p.Arg25742Gly) c.104419A>G (p.Arg34807Gly) c.99496A>G (p.Arg33166Gly) n.446+8560T>C n.220-3536T>C c.103516A>G (p.Arg34506Gly) c.77410A>G (p.Arg25804Gly) c.77269A>G (p.Arg25757Gly) c.103312A>G (p.Arg34438Gly) c.98710A>G (p.Arg32904Gly) c.98707A>G (p.Arg32903Gly) c.95749A>G (p.Arg31917Gly) c.77365A>G (p.Arg25789Gly) c.98860A>G (p.Arg32954Gly) c.98857A>G (p.Arg32953Gly) c.98290A>G (p.Arg32764Gly) c.95632A>G (p.Arg31878Gly) c.95551A>G (p.Arg31851Gly) c.77314A>G (p.Arg25772Gly) c.67168A>G (p.Arg22390Gly) | |
2 | g.178532196T>G | CA430235922 | TTN,TTN-AS1 | c.96715A>C (p.Arg32239=) c.77800A>C (p.Arg25934=) c.77599A>C (p.Arg25867=) c.77224A>C (p.Arg25742=) c.104419A>C (p.Arg34807=) c.99496A>C (p.Arg33166=) n.446+8560T>G n.220-3536T>G c.103516A>C (p.Arg34506=) c.77410A>C (p.Arg25804=) c.77269A>C (p.Arg25757=) c.103312A>C (p.Arg34438=) c.98710A>C (p.Arg32904=) c.98707A>C (p.Arg32903=) c.95749A>C (p.Arg31917=) c.77365A>C (p.Arg25789=) c.98860A>C (p.Arg32954=) c.98857A>C (p.Arg32953=) c.98290A>C (p.Arg32764=) c.95632A>C (p.Arg31878=) c.95551A>C (p.Arg31851=) c.77314A>C (p.Arg25772=) c.67168A>C (p.Arg22390=) | |
2 | g.178532197_178532198del | CA538434979 | TTN,TTN-AS1 | c.96714_96715del (p.Glu32240SerfsTer8) c.77799_77800del (p.Glu25935SerfsTer8) c.77598_77599del (p.Glu25868SerfsTer8) c.77223_77224del (p.Glu25743SerfsTer8) c.104418_104419del (p.Glu34808SerfsTer8) c.99495_99496del (p.Glu33167SerfsTer8) n.446+8561_446+8562del n.220-3535_220-3534del c.103515_103516del (p.Glu34507SerfsTer8) c.77409_77410del (p.Glu25805SerfsTer8) c.77268_77269del (p.Glu25758SerfsTer8) c.103311_103312del (p.Glu34439SerfsTer8) c.98709_98710del (p.Glu32905SerfsTer8) c.98706_98707del (p.Glu32904SerfsTer8) c.95748_95749del (p.Glu31918SerfsTer8) c.77364_77365del (p.Glu25790SerfsTer8) c.98859_98860del (p.Glu32955SerfsTer8) c.98856_98857del (p.Glu32954SerfsTer8) c.98289_98290del (p.Glu32765SerfsTer8) c.95631_95632del (p.Glu31879SerfsTer8) c.95550_95551del (p.Glu31852SerfsTer8) c.77313_77314del (p.Glu25773SerfsTer8) c.67167_67168del (p.Glu22391SerfsTer8) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.178532197T>A | CA349411776 | TTN,TTN-AS1 | c.96714A>T (p.Gln32238His) c.77799A>T (p.Gln25933His) c.77598A>T (p.Gln25866His) c.77223A>T (p.Gln25741His) c.104418A>T (p.Gln34806His) c.99495A>T (p.Gln33165His) n.446+8561T>A n.220-3535T>A c.103515A>T (p.Gln34505His) c.77409A>T (p.Gln25803His) c.77268A>T (p.Gln25756His) c.103311A>T (p.Gln34437His) c.98709A>T (p.Gln32903His) c.98706A>T (p.Gln32902His) c.95748A>T (p.Gln31916His) c.77364A>T (p.Gln25788His) c.98859A>T (p.Gln32953His) c.98856A>T (p.Gln32952His) c.98289A>T (p.Gln32763His) c.95631A>T (p.Gln31877His) c.95550A>T (p.Gln31850His) c.77313A>T (p.Gln25771His) c.67167A>T (p.Gln22389His) | |
2 | g.178532197T>C | CA430235923 | TTN,TTN-AS1 | c.96714A>G (p.Gln32238=) c.77799A>G (p.Gln25933=) c.77598A>G (p.Gln25866=) c.77223A>G (p.Gln25741=) c.104418A>G (p.Gln34806=) c.99495A>G (p.Gln33165=) n.446+8561T>C n.220-3535T>C c.103515A>G (p.Gln34505=) c.77409A>G (p.Gln25803=) c.77268A>G (p.Gln25756=) c.103311A>G (p.Gln34437=) c.98709A>G (p.Gln32903=) c.98706A>G (p.Gln32902=) c.95748A>G (p.Gln31916=) c.77364A>G (p.Gln25788=) c.98859A>G (p.Gln32953=) c.98856A>G (p.Gln32952=) c.98289A>G (p.Gln32763=) c.95631A>G (p.Gln31877=) c.95550A>G (p.Gln31850=) c.77313A>G (p.Gln25771=) c.67167A>G (p.Gln22389=) | |
2 | g.178532197T>G | CA349411777 | TTN,TTN-AS1 | c.96714A>C (p.Gln32238His) c.77799A>C (p.Gln25933His) c.77598A>C (p.Gln25866His) c.77223A>C (p.Gln25741His) c.104418A>C (p.Gln34806His) c.99495A>C (p.Gln33165His) n.446+8561T>G n.220-3535T>G c.103515A>C (p.Gln34505His) c.77409A>C (p.Gln25803His) c.77268A>C (p.Gln25756His) c.103311A>C (p.Gln34437His) c.98709A>C (p.Gln32903His) c.98706A>C (p.Gln32902His) c.95748A>C (p.Gln31916His) c.77364A>C (p.Gln25788His) c.98859A>C (p.Gln32953His) c.98856A>C (p.Gln32952His) c.98289A>C (p.Gln32763His) c.95631A>C (p.Gln31877His) c.95550A>C (p.Gln31850His) c.77313A>C (p.Gln25771His) c.67167A>C (p.Gln22389His) | |
2 | g.178532198T>A | CA349411778 | TTN,TTN-AS1 | c.96713A>T (p.Gln32238Leu) c.77798A>T (p.Gln25933Leu) c.77597A>T (p.Gln25866Leu) c.77222A>T (p.Gln25741Leu) c.104417A>T (p.Gln34806Leu) c.99494A>T (p.Gln33165Leu) n.446+8562T>A n.220-3534T>A c.103514A>T (p.Gln34505Leu) c.77408A>T (p.Gln25803Leu) c.77267A>T (p.Gln25756Leu) c.103310A>T (p.Gln34437Leu) c.98708A>T (p.Gln32903Leu) c.98705A>T (p.Gln32902Leu) c.95747A>T (p.Gln31916Leu) c.77363A>T (p.Gln25788Leu) c.98858A>T (p.Gln32953Leu) c.98855A>T (p.Gln32952Leu) c.98288A>T (p.Gln32763Leu) c.95630A>T (p.Gln31877Leu) c.95549A>T (p.Gln31850Leu) c.77312A>T (p.Gln25771Leu) c.67166A>T (p.Gln22389Leu) | |
2 | g.178532198T>C | CA349411779 | TTN,TTN-AS1 | c.96713A>G (p.Gln32238Arg) c.77798A>G (p.Gln25933Arg) c.77597A>G (p.Gln25866Arg) c.77222A>G (p.Gln25741Arg) c.104417A>G (p.Gln34806Arg) c.99494A>G (p.Gln33165Arg) n.446+8562T>C n.220-3534T>C c.103514A>G (p.Gln34505Arg) c.77408A>G (p.Gln25803Arg) c.77267A>G (p.Gln25756Arg) c.103310A>G (p.Gln34437Arg) c.98708A>G (p.Gln32903Arg) c.98705A>G (p.Gln32902Arg) c.95747A>G (p.Gln31916Arg) c.77363A>G (p.Gln25788Arg) c.98858A>G (p.Gln32953Arg) c.98855A>G (p.Gln32952Arg) c.98288A>G (p.Gln32763Arg) c.95630A>G (p.Gln31877Arg) c.95549A>G (p.Gln31850Arg) c.77312A>G (p.Gln25771Arg) c.67166A>G (p.Gln22389Arg) | |
2 | g.178532198T>G | CA349411780 | TTN,TTN-AS1 | c.96713A>C (p.Gln32238Pro) c.77798A>C (p.Gln25933Pro) c.77597A>C (p.Gln25866Pro) c.77222A>C (p.Gln25741Pro) c.104417A>C (p.Gln34806Pro) c.99494A>C (p.Gln33165Pro) n.446+8562T>G n.220-3534T>G c.103514A>C (p.Gln34505Pro) c.77408A>C (p.Gln25803Pro) c.77267A>C (p.Gln25756Pro) c.103310A>C (p.Gln34437Pro) c.98708A>C (p.Gln32903Pro) c.98705A>C (p.Gln32902Pro) c.95747A>C (p.Gln31916Pro) c.77363A>C (p.Gln25788Pro) c.98858A>C (p.Gln32953Pro) c.98855A>C (p.Gln32952Pro) c.98288A>C (p.Gln32763Pro) c.95630A>C (p.Gln31877Pro) c.95549A>C (p.Gln31850Pro) c.77312A>C (p.Gln25771Pro) c.67166A>C (p.Gln22389Pro) | ClinVar dbSNP |
2 | g.178532198T= | CA1310518121 | TTN,TTN-AS1 | c.96713A= (p.Gln32238=) c.77798A= (p.Gln25933=) c.77597A= (p.Gln25866=) c.77222A= (p.Gln25741=) c.104417A= (p.Gln34806=) c.99494A= (p.Gln33165=) n.446+8562T= n.220-3534T= c.103514A= (p.Gln34505=) c.77408A= (p.Gln25803=) c.77267A= (p.Gln25756=) c.103310A= (p.Gln34437=) c.98708A= (p.Gln32903=) c.98705A= (p.Gln32902=) c.95747A= (p.Gln31916=) c.77363A= (p.Gln25788=) c.98858A= (p.Gln32953=) c.98855A= (p.Gln32952=) c.98288A= (p.Gln32763=) c.95630A= (p.Gln31877=) c.95549A= (p.Gln31850=) c.77312A= (p.Gln25771=) c.67166A= (p.Gln22389=) | |
2 | g.178532199G>A | CA349411781 | TTN,TTN-AS1 | c.96712C>T (p.Gln32238Ter) c.77797C>T (p.Gln25933Ter) c.77596C>T (p.Gln25866Ter) c.77221C>T (p.Gln25741Ter) c.104416C>T (p.Gln34806Ter) c.99493C>T (p.Gln33165Ter) n.446+8563G>A n.220-3533G>A c.103513C>T (p.Gln34505Ter) c.77407C>T (p.Gln25803Ter) c.77266C>T (p.Gln25756Ter) c.103309C>T (p.Gln34437Ter) c.98707C>T (p.Gln32903Ter) c.98704C>T (p.Gln32902Ter) c.95746C>T (p.Gln31916Ter) c.77362C>T (p.Gln25788Ter) c.98857C>T (p.Gln32953Ter) c.98854C>T (p.Gln32952Ter) c.98287C>T (p.Gln32763Ter) c.95629C>T (p.Gln31877Ter) c.95548C>T (p.Gln31850Ter) c.77311C>T (p.Gln25771Ter) c.67165C>T (p.Gln22389Ter) | |
2 | g.178532199G>C | CA349411783 | TTN,TTN-AS1 | c.96712C>G (p.Gln32238Glu) c.77797C>G (p.Gln25933Glu) c.77596C>G (p.Gln25866Glu) c.77221C>G (p.Gln25741Glu) c.104416C>G (p.Gln34806Glu) c.99493C>G (p.Gln33165Glu) n.446+8563G>C n.220-3533G>C c.103513C>G (p.Gln34505Glu) c.77407C>G (p.Gln25803Glu) c.77266C>G (p.Gln25756Glu) c.103309C>G (p.Gln34437Glu) c.98707C>G (p.Gln32903Glu) c.98704C>G (p.Gln32902Glu) c.95746C>G (p.Gln31916Glu) c.77362C>G (p.Gln25788Glu) c.98857C>G (p.Gln32953Glu) c.98854C>G (p.Gln32952Glu) c.98287C>G (p.Gln32763Glu) c.95629C>G (p.Gln31877Glu) c.95548C>G (p.Gln31850Glu) c.77311C>G (p.Gln25771Glu) c.67165C>G (p.Gln22389Glu) | |
2 | g.178532199G>T | CA349411782 | TTN,TTN-AS1 | c.96712C>A (p.Gln32238Lys) c.77797C>A (p.Gln25933Lys) c.77596C>A (p.Gln25866Lys) c.77221C>A (p.Gln25741Lys) c.104416C>A (p.Gln34806Lys) c.99493C>A (p.Gln33165Lys) n.446+8563G>T n.220-3533G>T c.103513C>A (p.Gln34505Lys) c.77407C>A (p.Gln25803Lys) c.77266C>A (p.Gln25756Lys) c.103309C>A (p.Gln34437Lys) c.98707C>A (p.Gln32903Lys) c.98704C>A (p.Gln32902Lys) c.95746C>A (p.Gln31916Lys) c.77362C>A (p.Gln25788Lys) c.98857C>A (p.Gln32953Lys) c.98854C>A (p.Gln32952Lys) c.98287C>A (p.Gln32763Lys) c.95629C>A (p.Gln31877Lys) c.95548C>A (p.Gln31850Lys) c.77311C>A (p.Gln25771Lys) c.67165C>A (p.Gln22389Lys) | |
2 | g.178532200T>A | CA430235924 | TTN,TTN-AS1 | c.96711A>T (p.Arg32237=) c.77796A>T (p.Arg25932=) c.77595A>T (p.Arg25865=) c.77220A>T (p.Arg25740=) c.104415A>T (p.Arg34805=) c.99492A>T (p.Arg33164=) n.446+8564T>A n.220-3532T>A c.103512A>T (p.Arg34504=) c.77406A>T (p.Arg25802=) c.77265A>T (p.Arg25755=) c.103308A>T (p.Arg34436=) c.98706A>T (p.Arg32902=) c.98703A>T (p.Arg32901=) c.95745A>T (p.Arg31915=) c.77361A>T (p.Arg25787=) c.98856A>T (p.Arg32952=) c.98853A>T (p.Arg32951=) c.98286A>T (p.Arg32762=) c.95628A>T (p.Arg31876=) c.95547A>T (p.Arg31849=) c.77310A>T (p.Arg25770=) c.67164A>T (p.Arg22388=) | ClinVar |
2 | g.178532200T>C | CA430235925 | TTN,TTN-AS1 | c.96711A>G (p.Arg32237=) c.77796A>G (p.Arg25932=) c.77595A>G (p.Arg25865=) c.77220A>G (p.Arg25740=) c.104415A>G (p.Arg34805=) c.99492A>G (p.Arg33164=) n.446+8564T>C n.220-3532T>C c.103512A>G (p.Arg34504=) c.77406A>G (p.Arg25802=) c.77265A>G (p.Arg25755=) c.103308A>G (p.Arg34436=) c.98706A>G (p.Arg32902=) c.98703A>G (p.Arg32901=) c.95745A>G (p.Arg31915=) c.77361A>G (p.Arg25787=) c.98856A>G (p.Arg32952=) c.98853A>G (p.Arg32951=) c.98286A>G (p.Arg32762=) c.95628A>G (p.Arg31876=) c.95547A>G (p.Arg31849=) c.77310A>G (p.Arg25770=) c.67164A>G (p.Arg22388=) | |
2 | g.178532200T>G | CA430235926 | TTN,TTN-AS1 | c.96711A>C (p.Arg32237=) c.77796A>C (p.Arg25932=) c.77595A>C (p.Arg25865=) c.77220A>C (p.Arg25740=) c.104415A>C (p.Arg34805=) c.99492A>C (p.Arg33164=) n.446+8564T>G n.220-3532T>G c.103512A>C (p.Arg34504=) c.77406A>C (p.Arg25802=) c.77265A>C (p.Arg25755=) c.103308A>C (p.Arg34436=) c.98706A>C (p.Arg32902=) c.98703A>C (p.Arg32901=) c.95745A>C (p.Arg31915=) c.77361A>C (p.Arg25787=) c.98856A>C (p.Arg32952=) c.98853A>C (p.Arg32951=) c.98286A>C (p.Arg32762=) c.95628A>C (p.Arg31876=) c.95547A>C (p.Arg31849=) c.77310A>C (p.Arg25770=) c.67164A>C (p.Arg22388=) | |
2 | g.178532201C>A | CA141674 | TTN,TTN-AS1 | c.96710G>T (p.Arg32237Leu) c.77795G>T (p.Arg25932Leu) c.77594G>T (p.Arg25865Leu) c.77219G>T (p.Arg25740Leu) c.104414G>T (p.Arg34805Leu) c.99491G>T (p.Arg33164Leu) n.446+8565C>A n.220-3531C>A c.103511G>T (p.Arg34504Leu) c.77405G>T (p.Arg25802Leu) c.77264G>T (p.Arg25755Leu) c.103307G>T (p.Arg34436Leu) c.98705G>T (p.Arg32902Leu) c.98702G>T (p.Arg32901Leu) c.95744G>T (p.Arg31915Leu) c.77360G>T (p.Arg25787Leu) c.98855G>T (p.Arg32952Leu) c.98852G>T (p.Arg32951Leu) c.98285G>T (p.Arg32762Leu) c.95627G>T (p.Arg31876Leu) c.95546G>T (p.Arg31849Leu) c.77309G>T (p.Arg25770Leu) c.67163G>T (p.Arg22388Leu) | ClinVar dbSNP gnomAD v4 |
2 | g.178532201C= | CA1310518122 | TTN,TTN-AS1 | c.96710G= (p.Arg32237=) c.77795G= (p.Arg25932=) c.77594G= (p.Arg25865=) c.77219G= (p.Arg25740=) c.104414G= (p.Arg34805=) c.99491G= (p.Arg33164=) n.446+8565C= n.220-3531C= c.103511G= (p.Arg34504=) c.77405G= (p.Arg25802=) c.77264G= (p.Arg25755=) c.103307G= (p.Arg34436=) c.98705G= (p.Arg32902=) c.98702G= (p.Arg32901=) c.95744G= (p.Arg31915=) c.77360G= (p.Arg25787=) c.98855G= (p.Arg32952=) c.98852G= (p.Arg32951=) c.98285G= (p.Arg32762=) c.95627G= (p.Arg31876=) c.95546G= (p.Arg31849=) c.77309G= (p.Arg25770=) c.67163G= (p.Arg22388=) | |
2 | g.178532201C>G | CA349411784 | TTN,TTN-AS1 | c.96710G>C (p.Arg32237Pro) c.77795G>C (p.Arg25932Pro) c.77594G>C (p.Arg25865Pro) c.77219G>C (p.Arg25740Pro) c.104414G>C (p.Arg34805Pro) c.99491G>C (p.Arg33164Pro) n.446+8565C>G n.220-3531C>G c.103511G>C (p.Arg34504Pro) c.77405G>C (p.Arg25802Pro) c.77264G>C (p.Arg25755Pro) c.103307G>C (p.Arg34436Pro) c.98705G>C (p.Arg32902Pro) c.98702G>C (p.Arg32901Pro) c.95744G>C (p.Arg31915Pro) c.77360G>C (p.Arg25787Pro) c.98855G>C (p.Arg32952Pro) c.98852G>C (p.Arg32951Pro) c.98285G>C (p.Arg32762Pro) c.95627G>C (p.Arg31876Pro) c.95546G>C (p.Arg31849Pro) c.77309G>C (p.Arg25770Pro) c.67163G>C (p.Arg22388Pro) | ClinVar dbSNP gnomAD v4 |
2 | g.178532201C>T | CA311178 | TTN,TTN-AS1 | c.96710G>A (p.Arg32237Gln) c.77795G>A (p.Arg25932Gln) c.77594G>A (p.Arg25865Gln) c.77219G>A (p.Arg25740Gln) c.104414G>A (p.Arg34805Gln) c.99491G>A (p.Arg33164Gln) n.446+8565C>T n.220-3531C>T c.103511G>A (p.Arg34504Gln) c.77405G>A (p.Arg25802Gln) c.77264G>A (p.Arg25755Gln) c.103307G>A (p.Arg34436Gln) c.98705G>A (p.Arg32902Gln) c.98702G>A (p.Arg32901Gln) c.95744G>A (p.Arg31915Gln) c.77360G>A (p.Arg25787Gln) c.98855G>A (p.Arg32952Gln) c.98852G>A (p.Arg32951Gln) c.98285G>A (p.Arg32762Gln) c.95627G>A (p.Arg31876Gln) c.95546G>A (p.Arg31849Gln) c.77309G>A (p.Arg25770Gln) c.67163G>A (p.Arg22388Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178532202G>A | CA1985430 | TTN,TTN-AS1 | c.96709C>T (p.Arg32237Ter) c.77794C>T (p.Arg25932Ter) c.77593C>T (p.Arg25865Ter) c.77218C>T (p.Arg25740Ter) c.104413C>T (p.Arg34805Ter) c.99490C>T (p.Arg33164Ter) n.446+8566G>A n.220-3530G>A c.103510C>T (p.Arg34504Ter) c.77404C>T (p.Arg25802Ter) c.77263C>T (p.Arg25755Ter) c.103306C>T (p.Arg34436Ter) c.98704C>T (p.Arg32902Ter) c.98701C>T (p.Arg32901Ter) c.95743C>T (p.Arg31915Ter) c.77359C>T (p.Arg25787Ter) c.98854C>T (p.Arg32952Ter) c.98851C>T (p.Arg32951Ter) c.98284C>T (p.Arg32762Ter) c.95626C>T (p.Arg31876Ter) c.95545C>T (p.Arg31849Ter) c.77308C>T (p.Arg25770Ter) c.67162C>T (p.Arg22388Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
2 | g.178532202G>C | CA349411785 | TTN,TTN-AS1 | c.96709C>G (p.Arg32237Gly) c.77794C>G (p.Arg25932Gly) c.77593C>G (p.Arg25865Gly) c.77218C>G (p.Arg25740Gly) c.104413C>G (p.Arg34805Gly) c.99490C>G (p.Arg33164Gly) n.446+8566G>C n.220-3530G>C c.103510C>G (p.Arg34504Gly) c.77404C>G (p.Arg25802Gly) c.77263C>G (p.Arg25755Gly) c.103306C>G (p.Arg34436Gly) c.98704C>G (p.Arg32902Gly) c.98701C>G (p.Arg32901Gly) c.95743C>G (p.Arg31915Gly) c.77359C>G (p.Arg25787Gly) c.98854C>G (p.Arg32952Gly) c.98851C>G (p.Arg32951Gly) c.98284C>G (p.Arg32762Gly) c.95626C>G (p.Arg31876Gly) c.95545C>G (p.Arg31849Gly) c.77308C>G (p.Arg25770Gly) c.67162C>G (p.Arg22388Gly) | ClinVar |
2 | g.178532202G= | CA1310518123 | TTN,TTN-AS1 | c.96709C= (p.Arg32237=) c.77794C= (p.Arg25932=) c.77593C= (p.Arg25865=) c.77218C= (p.Arg25740=) c.104413C= (p.Arg34805=) c.99490C= (p.Arg33164=) n.446+8566G= n.220-3530G= c.103510C= (p.Arg34504=) c.77404C= (p.Arg25802=) c.77263C= (p.Arg25755=) c.103306C= (p.Arg34436=) c.98704C= (p.Arg32902=) c.98701C= (p.Arg32901=) c.95743C= (p.Arg31915=) c.77359C= (p.Arg25787=) c.98854C= (p.Arg32952=) c.98851C= (p.Arg32951=) c.98284C= (p.Arg32762=) c.95626C= (p.Arg31876=) c.95545C= (p.Arg31849=) c.77308C= (p.Arg25770=) c.67162C= (p.Arg22388=) | |
2 | g.178532202G>T | CA430235927 | TTN,TTN-AS1 | c.96709C>A (p.Arg32237=) c.77794C>A (p.Arg25932=) c.77593C>A (p.Arg25865=) c.77218C>A (p.Arg25740=) c.104413C>A (p.Arg34805=) c.99490C>A (p.Arg33164=) n.446+8566G>T n.220-3530G>T c.103510C>A (p.Arg34504=) c.77404C>A (p.Arg25802=) c.77263C>A (p.Arg25755=) c.103306C>A (p.Arg34436=) c.98704C>A (p.Arg32902=) c.98701C>A (p.Arg32901=) c.95743C>A (p.Arg31915=) c.77359C>A (p.Arg25787=) c.98854C>A (p.Arg32952=) c.98851C>A (p.Arg32951=) c.98284C>A (p.Arg32762=) c.95626C>A (p.Arg31876=) c.95545C>A (p.Arg31849=) c.77308C>A (p.Arg25770=) c.67162C>A (p.Arg22388=) | ClinVar |
2 | g.178532203C>A | CA349411786 | TTN,TTN-AS1 | c.96708G>T (p.Arg32236Ser) c.77793G>T (p.Arg25931Ser) c.77592G>T (p.Arg25864Ser) c.77217G>T (p.Arg25739Ser) c.104412G>T (p.Arg34804Ser) c.99489G>T (p.Arg33163Ser) n.446+8567C>A n.220-3529C>A c.103509G>T (p.Arg34503Ser) c.77403G>T (p.Arg25801Ser) c.77262G>T (p.Arg25754Ser) c.103305G>T (p.Arg34435Ser) c.98703G>T (p.Arg32901Ser) c.98700G>T (p.Arg32900Ser) c.95742G>T (p.Arg31914Ser) c.77358G>T (p.Arg25786Ser) c.98853G>T (p.Arg32951Ser) c.98850G>T (p.Arg32950Ser) c.98283G>T (p.Arg32761Ser) c.95625G>T (p.Arg31875Ser) c.95544G>T (p.Arg31848Ser) c.77307G>T (p.Arg25769Ser) c.67161G>T (p.Arg22387Ser) | |
2 | g.178532203C= | CA1310518124 | TTN,TTN-AS1 | c.96708G= (p.Arg32236=) c.77793G= (p.Arg25931=) c.77592G= (p.Arg25864=) c.77217G= (p.Arg25739=) c.104412G= (p.Arg34804=) c.99489G= (p.Arg33163=) n.446+8567C= n.220-3529C= c.103509G= (p.Arg34503=) c.77403G= (p.Arg25801=) c.77262G= (p.Arg25754=) c.103305G= (p.Arg34435=) c.98703G= (p.Arg32901=) c.98700G= (p.Arg32900=) c.95742G= (p.Arg31914=) c.77358G= (p.Arg25786=) c.98853G= (p.Arg32951=) c.98850G= (p.Arg32950=) c.98283G= (p.Arg32761=) c.95625G= (p.Arg31875=) c.95544G= (p.Arg31848=) c.77307G= (p.Arg25769=) c.67161G= (p.Arg22387=) | |
2 | g.178532203C>G | CA349411787 | TTN,TTN-AS1 | c.96708G>C (p.Arg32236Ser) c.77793G>C (p.Arg25931Ser) c.77592G>C (p.Arg25864Ser) c.77217G>C (p.Arg25739Ser) c.104412G>C (p.Arg34804Ser) c.99489G>C (p.Arg33163Ser) n.446+8567C>G n.220-3529C>G c.103509G>C (p.Arg34503Ser) c.77403G>C (p.Arg25801Ser) c.77262G>C (p.Arg25754Ser) c.103305G>C (p.Arg34435Ser) c.98703G>C (p.Arg32901Ser) c.98700G>C (p.Arg32900Ser) c.95742G>C (p.Arg31914Ser) c.77358G>C (p.Arg25786Ser) c.98853G>C (p.Arg32951Ser) c.98850G>C (p.Arg32950Ser) c.98283G>C (p.Arg32761Ser) c.95625G>C (p.Arg31875Ser) c.95544G>C (p.Arg31848Ser) c.77307G>C (p.Arg25769Ser) c.67161G>C (p.Arg22387Ser) | |
2 | g.178532203C>T | CA430235928 | TTN,TTN-AS1 | c.96708G>A (p.Arg32236=) c.77793G>A (p.Arg25931=) c.77592G>A (p.Arg25864=) c.77217G>A (p.Arg25739=) c.104412G>A (p.Arg34804=) c.99489G>A (p.Arg33163=) n.446+8567C>T n.220-3529C>T c.103509G>A (p.Arg34503=) c.77403G>A (p.Arg25801=) c.77262G>A (p.Arg25754=) c.103305G>A (p.Arg34435=) c.98703G>A (p.Arg32901=) c.98700G>A (p.Arg32900=) c.95742G>A (p.Arg31914=) c.77358G>A (p.Arg25786=) c.98853G>A (p.Arg32951=) c.98850G>A (p.Arg32950=) c.98283G>A (p.Arg32761=) c.95625G>A (p.Arg31875=) c.95544G>A (p.Arg31848=) c.77307G>A (p.Arg25769=) c.67161G>A (p.Arg22387=) | ClinVar dbSNP gnomAD v4 |
2 | g.178532204C>A | CA349411788 | TTN,TTN-AS1 | c.96707G>T (p.Arg32236Met) c.77792G>T (p.Arg25931Met) c.77591G>T (p.Arg25864Met) c.77216G>T (p.Arg25739Met) c.104411G>T (p.Arg34804Met) c.99488G>T (p.Arg33163Met) n.446+8568C>A n.220-3528C>A c.103508G>T (p.Arg34503Met) c.77402G>T (p.Arg25801Met) c.77261G>T (p.Arg25754Met) c.103304G>T (p.Arg34435Met) c.98702G>T (p.Arg32901Met) c.98699G>T (p.Arg32900Met) c.95741G>T (p.Arg31914Met) c.77357G>T (p.Arg25786Met) c.98852G>T (p.Arg32951Met) c.98849G>T (p.Arg32950Met) c.98282G>T (p.Arg32761Met) c.95624G>T (p.Arg31875Met) c.95543G>T (p.Arg31848Met) c.77306G>T (p.Arg25769Met) c.67160G>T (p.Arg22387Met) | |
2 | g.178532204C= | CA1310518125 | TTN,TTN-AS1 | c.96707G= (p.Arg32236=) c.77792G= (p.Arg25931=) c.77591G= (p.Arg25864=) c.77216G= (p.Arg25739=) c.104411G= (p.Arg34804=) c.99488G= (p.Arg33163=) n.446+8568C= n.220-3528C= c.103508G= (p.Arg34503=) c.77402G= (p.Arg25801=) c.77261G= (p.Arg25754=) c.103304G= (p.Arg34435=) c.98702G= (p.Arg32901=) c.98699G= (p.Arg32900=) c.95741G= (p.Arg31914=) c.77357G= (p.Arg25786=) c.98852G= (p.Arg32951=) c.98849G= (p.Arg32950=) c.98282G= (p.Arg32761=) c.95624G= (p.Arg31875=) c.95543G= (p.Arg31848=) c.77306G= (p.Arg25769=) c.67160G= (p.Arg22387=) | |
2 | g.178532204C>G | CA349411789 | TTN,TTN-AS1 | c.96707G>C (p.Arg32236Thr) c.77792G>C (p.Arg25931Thr) c.77591G>C (p.Arg25864Thr) c.77216G>C (p.Arg25739Thr) c.104411G>C (p.Arg34804Thr) c.99488G>C (p.Arg33163Thr) n.446+8568C>G n.220-3528C>G c.103508G>C (p.Arg34503Thr) c.77402G>C (p.Arg25801Thr) c.77261G>C (p.Arg25754Thr) c.103304G>C (p.Arg34435Thr) c.98702G>C (p.Arg32901Thr) c.98699G>C (p.Arg32900Thr) c.95741G>C (p.Arg31914Thr) c.77357G>C (p.Arg25786Thr) c.98852G>C (p.Arg32951Thr) c.98849G>C (p.Arg32950Thr) c.98282G>C (p.Arg32761Thr) c.95624G>C (p.Arg31875Thr) c.95543G>C (p.Arg31848Thr) c.77306G>C (p.Arg25769Thr) c.67160G>C (p.Arg22387Thr) | |
2 | g.178532204C>T | CA349411790 | TTN,TTN-AS1 | c.96707G>A (p.Arg32236Lys) c.77792G>A (p.Arg25931Lys) c.77591G>A (p.Arg25864Lys) c.77216G>A (p.Arg25739Lys) c.104411G>A (p.Arg34804Lys) c.99488G>A (p.Arg33163Lys) n.446+8568C>T n.220-3528C>T c.103508G>A (p.Arg34503Lys) c.77402G>A (p.Arg25801Lys) c.77261G>A (p.Arg25754Lys) c.103304G>A (p.Arg34435Lys) c.98702G>A (p.Arg32901Lys) c.98699G>A (p.Arg32900Lys) c.95741G>A (p.Arg31914Lys) c.77357G>A (p.Arg25786Lys) c.98852G>A (p.Arg32951Lys) c.98849G>A (p.Arg32950Lys) c.98282G>A (p.Arg32761Lys) c.95624G>A (p.Arg31875Lys) c.95543G>A (p.Arg31848Lys) c.77306G>A (p.Arg25769Lys) c.67160G>A (p.Arg22387Lys) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178532205T>A | CA349411791 | TTN,TTN-AS1 | c.96706A>T (p.Arg32236Trp) c.77791A>T (p.Arg25931Trp) c.77590A>T (p.Arg25864Trp) c.77215A>T (p.Arg25739Trp) c.104410A>T (p.Arg34804Trp) c.99487A>T (p.Arg33163Trp) n.446+8569T>A n.220-3527T>A c.103507A>T (p.Arg34503Trp) c.77401A>T (p.Arg25801Trp) c.77260A>T (p.Arg25754Trp) c.103303A>T (p.Arg34435Trp) c.98701A>T (p.Arg32901Trp) c.98698A>T (p.Arg32900Trp) c.95740A>T (p.Arg31914Trp) c.77356A>T (p.Arg25786Trp) c.98851A>T (p.Arg32951Trp) c.98848A>T (p.Arg32950Trp) c.98281A>T (p.Arg32761Trp) c.95623A>T (p.Arg31875Trp) c.95542A>T (p.Arg31848Trp) c.77305A>T (p.Arg25769Trp) c.67159A>T (p.Arg22387Trp) | |
2 | g.178532205T>C | CA349411792 | TTN,TTN-AS1 | c.96706A>G (p.Arg32236Gly) c.77791A>G (p.Arg25931Gly) c.77590A>G (p.Arg25864Gly) c.77215A>G (p.Arg25739Gly) c.104410A>G (p.Arg34804Gly) c.99487A>G (p.Arg33163Gly) n.446+8569T>C n.220-3527T>C c.103507A>G (p.Arg34503Gly) c.77401A>G (p.Arg25801Gly) c.77260A>G (p.Arg25754Gly) c.103303A>G (p.Arg34435Gly) c.98701A>G (p.Arg32901Gly) c.98698A>G (p.Arg32900Gly) c.95740A>G (p.Arg31914Gly) c.77356A>G (p.Arg25786Gly) c.98851A>G (p.Arg32951Gly) c.98848A>G (p.Arg32950Gly) c.98281A>G (p.Arg32761Gly) c.95623A>G (p.Arg31875Gly) c.95542A>G (p.Arg31848Gly) c.77305A>G (p.Arg25769Gly) c.67159A>G (p.Arg22387Gly) | |
2 | g.178532205T>G | CA430235929 | TTN,TTN-AS1 | c.96706A>C (p.Arg32236=) c.77791A>C (p.Arg25931=) c.77590A>C (p.Arg25864=) c.77215A>C (p.Arg25739=) c.104410A>C (p.Arg34804=) c.99487A>C (p.Arg33163=) n.446+8569T>G n.220-3527T>G c.103507A>C (p.Arg34503=) c.77401A>C (p.Arg25801=) c.77260A>C (p.Arg25754=) c.103303A>C (p.Arg34435=) c.98701A>C (p.Arg32901=) c.98698A>C (p.Arg32900=) c.95740A>C (p.Arg31914=) c.77356A>C (p.Arg25786=) c.98851A>C (p.Arg32951=) c.98848A>C (p.Arg32950=) c.98281A>C (p.Arg32761=) c.95623A>C (p.Arg31875=) c.95542A>C (p.Arg31848=) c.77305A>C (p.Arg25769=) c.67159A>C (p.Arg22387=) | ClinVar dbSNP gnomAD v4 |
2 | g.178532205T= | CA1310518126 | TTN,TTN-AS1 | c.96706A= (p.Arg32236=) c.77791A= (p.Arg25931=) c.77590A= (p.Arg25864=) c.77215A= (p.Arg25739=) c.104410A= (p.Arg34804=) c.99487A= (p.Arg33163=) n.446+8569T= n.220-3527T= c.103507A= (p.Arg34503=) c.77401A= (p.Arg25801=) c.77260A= (p.Arg25754=) c.103303A= (p.Arg34435=) c.98701A= (p.Arg32901=) c.98698A= (p.Arg32900=) c.95740A= (p.Arg31914=) c.77356A= (p.Arg25786=) c.98851A= (p.Arg32951=) c.98848A= (p.Arg32950=) c.98281A= (p.Arg32761=) c.95623A= (p.Arg31875=) c.95542A= (p.Arg31848=) c.77305A= (p.Arg25769=) c.67159A= (p.Arg22387=) | |
2 | g.178532206T>A | CA430235930 | TTN,TTN-AS1 | c.96705A>T (p.Ser32235=) c.77790A>T (p.Ser25930=) c.77589A>T (p.Ser25863=) c.77214A>T (p.Ser25738=) c.104409A>T (p.Ser34803=) c.99486A>T (p.Ser33162=) n.446+8570T>A n.220-3526T>A c.103506A>T (p.Ser34502=) c.77400A>T (p.Ser25800=) c.77259A>T (p.Ser25753=) c.103302A>T (p.Ser34434=) c.98700A>T (p.Ser32900=) c.98697A>T (p.Ser32899=) c.95739A>T (p.Ser31913=) c.77355A>T (p.Ser25785=) c.98850A>T (p.Ser32950=) c.98847A>T (p.Ser32949=) c.98280A>T (p.Ser32760=) c.95622A>T (p.Ser31874=) c.95541A>T (p.Ser31847=) c.77304A>T (p.Ser25768=) c.67158A>T (p.Ser22386=) | |
2 | g.178532206T>C | CA430235931 | TTN,TTN-AS1 | c.96705A>G (p.Ser32235=) c.77790A>G (p.Ser25930=) c.77589A>G (p.Ser25863=) c.77214A>G (p.Ser25738=) c.104409A>G (p.Ser34803=) c.99486A>G (p.Ser33162=) n.446+8570T>C n.220-3526T>C c.103506A>G (p.Ser34502=) c.77400A>G (p.Ser25800=) c.77259A>G (p.Ser25753=) c.103302A>G (p.Ser34434=) c.98700A>G (p.Ser32900=) c.98697A>G (p.Ser32899=) c.95739A>G (p.Ser31913=) c.77355A>G (p.Ser25785=) c.98850A>G (p.Ser32950=) c.98847A>G (p.Ser32949=) c.98280A>G (p.Ser32760=) c.95622A>G (p.Ser31874=) c.95541A>G (p.Ser31847=) c.77304A>G (p.Ser25768=) c.67158A>G (p.Ser22386=) | |
2 | g.178532206T>G | CA430235932 | TTN,TTN-AS1 | c.96705A>C (p.Ser32235=) c.77790A>C (p.Ser25930=) c.77589A>C (p.Ser25863=) c.77214A>C (p.Ser25738=) c.104409A>C (p.Ser34803=) c.99486A>C (p.Ser33162=) n.446+8570T>G n.220-3526T>G c.103506A>C (p.Ser34502=) c.77400A>C (p.Ser25800=) c.77259A>C (p.Ser25753=) c.103302A>C (p.Ser34434=) c.98700A>C (p.Ser32900=) c.98697A>C (p.Ser32899=) c.95739A>C (p.Ser31913=) c.77355A>C (p.Ser25785=) c.98850A>C (p.Ser32950=) c.98847A>C (p.Ser32949=) c.98280A>C (p.Ser32760=) c.95622A>C (p.Ser31874=) c.95541A>C (p.Ser31847=) c.77304A>C (p.Ser25768=) c.67158A>C (p.Ser22386=) | |
2 | g.178532207G>A | CA349411793 | TTN,TTN-AS1 | c.96704C>T (p.Ser32235Leu) c.77789C>T (p.Ser25930Leu) c.77588C>T (p.Ser25863Leu) c.77213C>T (p.Ser25738Leu) c.104408C>T (p.Ser34803Leu) c.99485C>T (p.Ser33162Leu) n.446+8571G>A n.220-3525G>A c.103505C>T (p.Ser34502Leu) c.77399C>T (p.Ser25800Leu) c.77258C>T (p.Ser25753Leu) c.103301C>T (p.Ser34434Leu) c.98699C>T (p.Ser32900Leu) c.98696C>T (p.Ser32899Leu) c.95738C>T (p.Ser31913Leu) c.77354C>T (p.Ser25785Leu) c.98849C>T (p.Ser32950Leu) c.98846C>T (p.Ser32949Leu) c.98279C>T (p.Ser32760Leu) c.95621C>T (p.Ser31874Leu) c.95540C>T (p.Ser31847Leu) c.77303C>T (p.Ser25768Leu) c.67157C>T (p.Ser22386Leu) | |
2 | g.178532207G>C | CA349411795 | TTN,TTN-AS1 | c.96704C>G (p.Ser32235Ter) c.77789C>G (p.Ser25930Ter) c.77588C>G (p.Ser25863Ter) c.77213C>G (p.Ser25738Ter) c.104408C>G (p.Ser34803Ter) c.99485C>G (p.Ser33162Ter) n.446+8571G>C n.220-3525G>C c.103505C>G (p.Ser34502Ter) c.77399C>G (p.Ser25800Ter) c.77258C>G (p.Ser25753Ter) c.103301C>G (p.Ser34434Ter) c.98699C>G (p.Ser32900Ter) c.98696C>G (p.Ser32899Ter) c.95738C>G (p.Ser31913Ter) c.77354C>G (p.Ser25785Ter) c.98849C>G (p.Ser32950Ter) c.98846C>G (p.Ser32949Ter) c.98279C>G (p.Ser32760Ter) c.95621C>G (p.Ser31874Ter) c.95540C>G (p.Ser31847Ter) c.77303C>G (p.Ser25768Ter) c.67157C>G (p.Ser22386Ter) | ClinVar |
2 | g.178532207G>T | CA349411794 | TTN,TTN-AS1 | c.96704C>A (p.Ser32235Ter) c.77789C>A (p.Ser25930Ter) c.77588C>A (p.Ser25863Ter) c.77213C>A (p.Ser25738Ter) c.104408C>A (p.Ser34803Ter) c.99485C>A (p.Ser33162Ter) n.446+8571G>T n.220-3525G>T c.103505C>A (p.Ser34502Ter) c.77399C>A (p.Ser25800Ter) c.77258C>A (p.Ser25753Ter) c.103301C>A (p.Ser34434Ter) c.98699C>A (p.Ser32900Ter) c.98696C>A (p.Ser32899Ter) c.95738C>A (p.Ser31913Ter) c.77354C>A (p.Ser25785Ter) c.98849C>A (p.Ser32950Ter) c.98846C>A (p.Ser32949Ter) c.98279C>A (p.Ser32760Ter) c.95621C>A (p.Ser31874Ter) c.95540C>A (p.Ser31847Ter) c.77303C>A (p.Ser25768Ter) c.67157C>A (p.Ser22386Ter) | |
2 | g.178532208A>C | CA349411796 | TTN,TTN-AS1 | c.96703T>G (p.Ser32235Ala) c.77788T>G (p.Ser25930Ala) c.77587T>G (p.Ser25863Ala) c.77212T>G (p.Ser25738Ala) c.104407T>G (p.Ser34803Ala) c.99484T>G (p.Ser33162Ala) n.446+8572A>C n.220-3524A>C c.103504T>G (p.Ser34502Ala) c.77398T>G (p.Ser25800Ala) c.77257T>G (p.Ser25753Ala) c.103300T>G (p.Ser34434Ala) c.98698T>G (p.Ser32900Ala) c.98695T>G (p.Ser32899Ala) c.95737T>G (p.Ser31913Ala) c.77353T>G (p.Ser25785Ala) c.98848T>G (p.Ser32950Ala) c.98845T>G (p.Ser32949Ala) c.98278T>G (p.Ser32760Ala) c.95620T>G (p.Ser31874Ala) c.95539T>G (p.Ser31847Ala) c.77302T>G (p.Ser25768Ala) c.67156T>G (p.Ser22386Ala) | |
2 | g.178532208A>G | CA349411797 | TTN,TTN-AS1 | c.96703T>C (p.Ser32235Pro) c.77788T>C (p.Ser25930Pro) c.77587T>C (p.Ser25863Pro) c.77212T>C (p.Ser25738Pro) c.104407T>C (p.Ser34803Pro) c.99484T>C (p.Ser33162Pro) n.446+8572A>G n.220-3524A>G c.103504T>C (p.Ser34502Pro) c.77398T>C (p.Ser25800Pro) c.77257T>C (p.Ser25753Pro) c.103300T>C (p.Ser34434Pro) c.98698T>C (p.Ser32900Pro) c.98695T>C (p.Ser32899Pro) c.95737T>C (p.Ser31913Pro) c.77353T>C (p.Ser25785Pro) c.98848T>C (p.Ser32950Pro) c.98845T>C (p.Ser32949Pro) c.98278T>C (p.Ser32760Pro) c.95620T>C (p.Ser31874Pro) c.95539T>C (p.Ser31847Pro) c.77302T>C (p.Ser25768Pro) c.67156T>C (p.Ser22386Pro) | |
2 | g.178532208A>T | CA349411798 | TTN,TTN-AS1 | c.96703T>A (p.Ser32235Thr) c.77788T>A (p.Ser25930Thr) c.77587T>A (p.Ser25863Thr) c.77212T>A (p.Ser25738Thr) c.104407T>A (p.Ser34803Thr) c.99484T>A (p.Ser33162Thr) n.446+8572A>T n.220-3524A>T c.103504T>A (p.Ser34502Thr) c.77398T>A (p.Ser25800Thr) c.77257T>A (p.Ser25753Thr) c.103300T>A (p.Ser34434Thr) c.98698T>A (p.Ser32900Thr) c.98695T>A (p.Ser32899Thr) c.95737T>A (p.Ser31913Thr) c.77353T>A (p.Ser25785Thr) c.98848T>A (p.Ser32950Thr) c.98845T>A (p.Ser32949Thr) c.98278T>A (p.Ser32760Thr) c.95620T>A (p.Ser31874Thr) c.95539T>A (p.Ser31847Thr) c.77302T>A (p.Ser25768Thr) c.67156T>A (p.Ser22386Thr) | |
2 | g.178532209T>A | CA349411799 | TTN,TTN-AS1 | c.96702A>T (p.Lys32234Asn) c.77787A>T (p.Lys25929Asn) c.77586A>T (p.Lys25862Asn) c.77211A>T (p.Lys25737Asn) c.104406A>T (p.Lys34802Asn) c.99483A>T (p.Lys33161Asn) n.446+8573T>A n.220-3523T>A c.103503A>T (p.Lys34501Asn) c.77397A>T (p.Lys25799Asn) c.77256A>T (p.Lys25752Asn) c.103299A>T (p.Lys34433Asn) c.98697A>T (p.Lys32899Asn) c.98694A>T (p.Lys32898Asn) c.95736A>T (p.Lys31912Asn) c.77352A>T (p.Lys25784Asn) c.98847A>T (p.Lys32949Asn) c.98844A>T (p.Lys32948Asn) c.98277A>T (p.Lys32759Asn) c.95619A>T (p.Lys31873Asn) c.95538A>T (p.Lys31846Asn) c.77301A>T (p.Lys25767Asn) c.67155A>T (p.Lys22385Asn) | |
2 | g.178532209T>C | CA430235933 | TTN,TTN-AS1 | c.96702A>G (p.Lys32234=) c.77787A>G (p.Lys25929=) c.77586A>G (p.Lys25862=) c.77211A>G (p.Lys25737=) c.104406A>G (p.Lys34802=) c.99483A>G (p.Lys33161=) n.446+8573T>C n.220-3523T>C c.103503A>G (p.Lys34501=) c.77397A>G (p.Lys25799=) c.77256A>G (p.Lys25752=) c.103299A>G (p.Lys34433=) c.98697A>G (p.Lys32899=) c.98694A>G (p.Lys32898=) c.95736A>G (p.Lys31912=) c.77352A>G (p.Lys25784=) c.98847A>G (p.Lys32949=) c.98844A>G (p.Lys32948=) c.98277A>G (p.Lys32759=) c.95619A>G (p.Lys31873=) c.95538A>G (p.Lys31846=) c.77301A>G (p.Lys25767=) c.67155A>G (p.Lys22385=) | ClinVar |
2 | g.178532209T>G | CA349411800 | TTN,TTN-AS1 | c.96702A>C (p.Lys32234Asn) c.77787A>C (p.Lys25929Asn) c.77586A>C (p.Lys25862Asn) c.77211A>C (p.Lys25737Asn) c.104406A>C (p.Lys34802Asn) c.99483A>C (p.Lys33161Asn) n.446+8573T>G n.220-3523T>G c.103503A>C (p.Lys34501Asn) c.77397A>C (p.Lys25799Asn) c.77256A>C (p.Lys25752Asn) c.103299A>C (p.Lys34433Asn) c.98697A>C (p.Lys32899Asn) c.98694A>C (p.Lys32898Asn) c.95736A>C (p.Lys31912Asn) c.77352A>C (p.Lys25784Asn) c.98847A>C (p.Lys32949Asn) c.98844A>C (p.Lys32948Asn) c.98277A>C (p.Lys32759Asn) c.95619A>C (p.Lys31873Asn) c.95538A>C (p.Lys31846Asn) c.77301A>C (p.Lys25767Asn) c.67155A>C (p.Lys22385Asn) | |
2 | g.178532210T>A | CA349411801 | TTN,TTN-AS1 | c.96701A>T (p.Lys32234Ile) c.77786A>T (p.Lys25929Ile) c.77585A>T (p.Lys25862Ile) c.77210A>T (p.Lys25737Ile) c.104405A>T (p.Lys34802Ile) c.99482A>T (p.Lys33161Ile) n.446+8574T>A n.220-3522T>A c.103502A>T (p.Lys34501Ile) c.77396A>T (p.Lys25799Ile) c.77255A>T (p.Lys25752Ile) c.103298A>T (p.Lys34433Ile) c.98696A>T (p.Lys32899Ile) c.98693A>T (p.Lys32898Ile) c.95735A>T (p.Lys31912Ile) c.77351A>T (p.Lys25784Ile) c.98846A>T (p.Lys32949Ile) c.98843A>T (p.Lys32948Ile) c.98276A>T (p.Lys32759Ile) c.95618A>T (p.Lys31873Ile) c.95537A>T (p.Lys31846Ile) c.77300A>T (p.Lys25767Ile) c.67154A>T (p.Lys22385Ile) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
2 | g.178532210T>C | CA349411802 | TTN,TTN-AS1 | c.96701A>G (p.Lys32234Arg) c.77786A>G (p.Lys25929Arg) c.77585A>G (p.Lys25862Arg) c.77210A>G (p.Lys25737Arg) c.104405A>G (p.Lys34802Arg) c.99482A>G (p.Lys33161Arg) n.446+8574T>C n.220-3522T>C c.103502A>G (p.Lys34501Arg) c.77396A>G (p.Lys25799Arg) c.77255A>G (p.Lys25752Arg) c.103298A>G (p.Lys34433Arg) c.98696A>G (p.Lys32899Arg) c.98693A>G (p.Lys32898Arg) c.95735A>G (p.Lys31912Arg) c.77351A>G (p.Lys25784Arg) c.98846A>G (p.Lys32949Arg) c.98843A>G (p.Lys32948Arg) c.98276A>G (p.Lys32759Arg) c.95618A>G (p.Lys31873Arg) c.95537A>G (p.Lys31846Arg) c.77300A>G (p.Lys25767Arg) c.67154A>G (p.Lys22385Arg) | |
2 | g.178532210T>G | CA349411803 | TTN,TTN-AS1 | c.96701A>C (p.Lys32234Thr) c.77786A>C (p.Lys25929Thr) c.77585A>C (p.Lys25862Thr) c.77210A>C (p.Lys25737Thr) c.104405A>C (p.Lys34802Thr) c.99482A>C (p.Lys33161Thr) n.446+8574T>G n.220-3522T>G c.103502A>C (p.Lys34501Thr) c.77396A>C (p.Lys25799Thr) c.77255A>C (p.Lys25752Thr) c.103298A>C (p.Lys34433Thr) c.98696A>C (p.Lys32899Thr) c.98693A>C (p.Lys32898Thr) c.95735A>C (p.Lys31912Thr) c.77351A>C (p.Lys25784Thr) c.98846A>C (p.Lys32949Thr) c.98843A>C (p.Lys32948Thr) c.98276A>C (p.Lys32759Thr) c.95618A>C (p.Lys31873Thr) c.95537A>C (p.Lys31846Thr) c.77300A>C (p.Lys25767Thr) c.67154A>C (p.Lys22385Thr) | |
2 | g.178532210T= | CA1310518127 | TTN,TTN-AS1 | c.96701A= (p.Lys32234=) c.77786A= (p.Lys25929=) c.77585A= (p.Lys25862=) c.77210A= (p.Lys25737=) c.104405A= (p.Lys34802=) c.99482A= (p.Lys33161=) n.446+8574T= n.220-3522T= c.103502A= (p.Lys34501=) c.77396A= (p.Lys25799=) c.77255A= (p.Lys25752=) c.103298A= (p.Lys34433=) c.98696A= (p.Lys32899=) c.98693A= (p.Lys32898=) c.95735A= (p.Lys31912=) c.77351A= (p.Lys25784=) c.98846A= (p.Lys32949=) c.98843A= (p.Lys32948=) c.98276A= (p.Lys32759=) c.95618A= (p.Lys31873=) c.95537A= (p.Lys31846=) c.77300A= (p.Lys25767=) c.67154A= (p.Lys22385=) | |
2 | g.178532211T>A | CA349411804 | TTN,TTN-AS1 | c.96700A>T (p.Lys32234Ter) c.77785A>T (p.Lys25929Ter) c.77584A>T (p.Lys25862Ter) c.77209A>T (p.Lys25737Ter) c.104404A>T (p.Lys34802Ter) c.99481A>T (p.Lys33161Ter) n.446+8575T>A n.220-3521T>A c.103501A>T (p.Lys34501Ter) c.77395A>T (p.Lys25799Ter) c.77254A>T (p.Lys25752Ter) c.103297A>T (p.Lys34433Ter) c.98695A>T (p.Lys32899Ter) c.98692A>T (p.Lys32898Ter) c.95734A>T (p.Lys31912Ter) c.77350A>T (p.Lys25784Ter) c.98845A>T (p.Lys32949Ter) c.98842A>T (p.Lys32948Ter) c.98275A>T (p.Lys32759Ter) c.95617A>T (p.Lys31873Ter) c.95536A>T (p.Lys31846Ter) c.77299A>T (p.Lys25767Ter) c.67153A>T (p.Lys22385Ter) | |
2 | g.178532211T>C | CA349411805 | TTN,TTN-AS1 | c.96700A>G (p.Lys32234Glu) c.77785A>G (p.Lys25929Glu) c.77584A>G (p.Lys25862Glu) c.77209A>G (p.Lys25737Glu) c.104404A>G (p.Lys34802Glu) c.99481A>G (p.Lys33161Glu) n.446+8575T>C n.220-3521T>C c.103501A>G (p.Lys34501Glu) c.77395A>G (p.Lys25799Glu) c.77254A>G (p.Lys25752Glu) c.103297A>G (p.Lys34433Glu) c.98695A>G (p.Lys32899Glu) c.98692A>G (p.Lys32898Glu) c.95734A>G (p.Lys31912Glu) c.77350A>G (p.Lys25784Glu) c.98845A>G (p.Lys32949Glu) c.98842A>G (p.Lys32948Glu) c.98275A>G (p.Lys32759Glu) c.95617A>G (p.Lys31873Glu) c.95536A>G (p.Lys31846Glu) c.77299A>G (p.Lys25767Glu) c.67153A>G (p.Lys22385Glu) | |
2 | g.178532211T>G | CA349411806 | TTN,TTN-AS1 | c.96700A>C (p.Lys32234Gln) c.77785A>C (p.Lys25929Gln) c.77584A>C (p.Lys25862Gln) c.77209A>C (p.Lys25737Gln) c.104404A>C (p.Lys34802Gln) c.99481A>C (p.Lys33161Gln) n.446+8575T>G n.220-3521T>G c.103501A>C (p.Lys34501Gln) c.77395A>C (p.Lys25799Gln) c.77254A>C (p.Lys25752Gln) c.103297A>C (p.Lys34433Gln) c.98695A>C (p.Lys32899Gln) c.98692A>C (p.Lys32898Gln) c.95734A>C (p.Lys31912Gln) c.77350A>C (p.Lys25784Gln) c.98845A>C (p.Lys32949Gln) c.98842A>C (p.Lys32948Gln) c.98275A>C (p.Lys32759Gln) c.95617A>C (p.Lys31873Gln) c.95536A>C (p.Lys31846Gln) c.77299A>C (p.Lys25767Gln) c.67153A>C (p.Lys22385Gln) | |
2 | g.178532212C>A | CA349411807 | TTN,TTN-AS1 | c.96699G>T (p.Lys32233Asn) c.77784G>T (p.Lys25928Asn) c.77583G>T (p.Lys25861Asn) c.77208G>T (p.Lys25736Asn) c.104403G>T (p.Lys34801Asn) c.99480G>T (p.Lys33160Asn) n.446+8576C>A n.220-3520C>A c.103500G>T (p.Lys34500Asn) c.77394G>T (p.Lys25798Asn) c.77253G>T (p.Lys25751Asn) c.103296G>T (p.Lys34432Asn) c.98694G>T (p.Lys32898Asn) c.98691G>T (p.Lys32897Asn) c.95733G>T (p.Lys31911Asn) c.77349G>T (p.Lys25783Asn) c.98844G>T (p.Lys32948Asn) c.98841G>T (p.Lys32947Asn) c.98274G>T (p.Lys32758Asn) c.95616G>T (p.Lys31872Asn) c.95535G>T (p.Lys31845Asn) c.77298G>T (p.Lys25766Asn) c.67152G>T (p.Lys22384Asn) | |
2 | g.178532212C>G | CA349411808 | TTN,TTN-AS1 | c.96699G>C (p.Lys32233Asn) c.77784G>C (p.Lys25928Asn) c.77583G>C (p.Lys25861Asn) c.77208G>C (p.Lys25736Asn) c.104403G>C (p.Lys34801Asn) c.99480G>C (p.Lys33160Asn) n.446+8576C>G n.220-3520C>G c.103500G>C (p.Lys34500Asn) c.77394G>C (p.Lys25798Asn) c.77253G>C (p.Lys25751Asn) c.103296G>C (p.Lys34432Asn) c.98694G>C (p.Lys32898Asn) c.98691G>C (p.Lys32897Asn) c.95733G>C (p.Lys31911Asn) c.77349G>C (p.Lys25783Asn) c.98844G>C (p.Lys32948Asn) c.98841G>C (p.Lys32947Asn) c.98274G>C (p.Lys32758Asn) c.95616G>C (p.Lys31872Asn) c.95535G>C (p.Lys31845Asn) c.77298G>C (p.Lys25766Asn) c.67152G>C (p.Lys22384Asn) | |
2 | g.178532212C>T | CA430235934 | TTN,TTN-AS1 | c.96699G>A (p.Lys32233=) c.77784G>A (p.Lys25928=) c.77583G>A (p.Lys25861=) c.77208G>A (p.Lys25736=) c.104403G>A (p.Lys34801=) c.99480G>A (p.Lys33160=) n.446+8576C>T n.220-3520C>T c.103500G>A (p.Lys34500=) c.77394G>A (p.Lys25798=) c.77253G>A (p.Lys25751=) c.103296G>A (p.Lys34432=) c.98694G>A (p.Lys32898=) c.98691G>A (p.Lys32897=) c.95733G>A (p.Lys31911=) c.77349G>A (p.Lys25783=) c.98844G>A (p.Lys32948=) c.98841G>A (p.Lys32947=) c.98274G>A (p.Lys32758=) c.95616G>A (p.Lys31872=) c.95535G>A (p.Lys31845=) c.77298G>A (p.Lys25766=) c.67152G>A (p.Lys22384=) | ClinVar |
2 | g.178532213T>A | CA349411809 | TTN,TTN-AS1 | c.96698A>T (p.Lys32233Met) c.77783A>T (p.Lys25928Met) c.77582A>T (p.Lys25861Met) c.77207A>T (p.Lys25736Met) c.104402A>T (p.Lys34801Met) c.99479A>T (p.Lys33160Met) n.446+8577T>A n.220-3519T>A c.103499A>T (p.Lys34500Met) c.77393A>T (p.Lys25798Met) c.77252A>T (p.Lys25751Met) c.103295A>T (p.Lys34432Met) c.98693A>T (p.Lys32898Met) c.98690A>T (p.Lys32897Met) c.95732A>T (p.Lys31911Met) c.77348A>T (p.Lys25783Met) c.98843A>T (p.Lys32948Met) c.98840A>T (p.Lys32947Met) c.98273A>T (p.Lys32758Met) c.95615A>T (p.Lys31872Met) c.95534A>T (p.Lys31845Met) c.77297A>T (p.Lys25766Met) c.67151A>T (p.Lys22384Met) | |
2 | g.178532213T>C | CA349411811 | TTN,TTN-AS1 | c.96698A>G (p.Lys32233Arg) c.77783A>G (p.Lys25928Arg) c.77582A>G (p.Lys25861Arg) c.77207A>G (p.Lys25736Arg) c.104402A>G (p.Lys34801Arg) c.99479A>G (p.Lys33160Arg) n.446+8577T>C n.220-3519T>C c.103499A>G (p.Lys34500Arg) c.77393A>G (p.Lys25798Arg) c.77252A>G (p.Lys25751Arg) c.103295A>G (p.Lys34432Arg) c.98693A>G (p.Lys32898Arg) c.98690A>G (p.Lys32897Arg) c.95732A>G (p.Lys31911Arg) c.77348A>G (p.Lys25783Arg) c.98843A>G (p.Lys32948Arg) c.98840A>G (p.Lys32947Arg) c.98273A>G (p.Lys32758Arg) c.95615A>G (p.Lys31872Arg) c.95534A>G (p.Lys31845Arg) c.77297A>G (p.Lys25766Arg) c.67151A>G (p.Lys22384Arg) | |
2 | g.178532213T>G | CA349411810 | TTN,TTN-AS1 | c.96698A>C (p.Lys32233Thr) c.77783A>C (p.Lys25928Thr) c.77582A>C (p.Lys25861Thr) c.77207A>C (p.Lys25736Thr) c.104402A>C (p.Lys34801Thr) c.99479A>C (p.Lys33160Thr) n.446+8577T>G n.220-3519T>G c.103499A>C (p.Lys34500Thr) c.77393A>C (p.Lys25798Thr) c.77252A>C (p.Lys25751Thr) c.103295A>C (p.Lys34432Thr) c.98693A>C (p.Lys32898Thr) c.98690A>C (p.Lys32897Thr) c.95732A>C (p.Lys31911Thr) c.77348A>C (p.Lys25783Thr) c.98843A>C (p.Lys32948Thr) c.98840A>C (p.Lys32947Thr) c.98273A>C (p.Lys32758Thr) c.95615A>C (p.Lys31872Thr) c.95534A>C (p.Lys31845Thr) c.77297A>C (p.Lys25766Thr) c.67151A>C (p.Lys22384Thr) | |
2 | g.178532214T>A | CA349411812 | TTN,TTN-AS1 | c.96697A>T (p.Lys32233Ter) c.77782A>T (p.Lys25928Ter) c.77581A>T (p.Lys25861Ter) c.77206A>T (p.Lys25736Ter) c.104401A>T (p.Lys34801Ter) c.99478A>T (p.Lys33160Ter) n.446+8578T>A n.220-3518T>A c.103498A>T (p.Lys34500Ter) c.77392A>T (p.Lys25798Ter) c.77251A>T (p.Lys25751Ter) c.103294A>T (p.Lys34432Ter) c.98692A>T (p.Lys32898Ter) c.98689A>T (p.Lys32897Ter) c.95731A>T (p.Lys31911Ter) c.77347A>T (p.Lys25783Ter) c.98842A>T (p.Lys32948Ter) c.98839A>T (p.Lys32947Ter) c.98272A>T (p.Lys32758Ter) c.95614A>T (p.Lys31872Ter) c.95533A>T (p.Lys31845Ter) c.77296A>T (p.Lys25766Ter) c.67150A>T (p.Lys22384Ter) | |
2 | g.178532214T>C | CA349411813 | TTN,TTN-AS1 | c.96697A>G (p.Lys32233Glu) c.77782A>G (p.Lys25928Glu) c.77581A>G (p.Lys25861Glu) c.77206A>G (p.Lys25736Glu) c.104401A>G (p.Lys34801Glu) c.99478A>G (p.Lys33160Glu) n.446+8578T>C n.220-3518T>C c.103498A>G (p.Lys34500Glu) c.77392A>G (p.Lys25798Glu) c.77251A>G (p.Lys25751Glu) c.103294A>G (p.Lys34432Glu) c.98692A>G (p.Lys32898Glu) c.98689A>G (p.Lys32897Glu) c.95731A>G (p.Lys31911Glu) c.77347A>G (p.Lys25783Glu) c.98842A>G (p.Lys32948Glu) c.98839A>G (p.Lys32947Glu) c.98272A>G (p.Lys32758Glu) c.95614A>G (p.Lys31872Glu) c.95533A>G (p.Lys31845Glu) c.77296A>G (p.Lys25766Glu) c.67150A>G (p.Lys22384Glu) | gnomAD v4 |
2 | g.178532214T>G | CA349411814 | TTN,TTN-AS1 | c.96697A>C (p.Lys32233Gln) c.77782A>C (p.Lys25928Gln) c.77581A>C (p.Lys25861Gln) c.77206A>C (p.Lys25736Gln) c.104401A>C (p.Lys34801Gln) c.99478A>C (p.Lys33160Gln) n.446+8578T>G n.220-3518T>G c.103498A>C (p.Lys34500Gln) c.77392A>C (p.Lys25798Gln) c.77251A>C (p.Lys25751Gln) c.103294A>C (p.Lys34432Gln) c.98692A>C (p.Lys32898Gln) c.98689A>C (p.Lys32897Gln) c.95731A>C (p.Lys31911Gln) c.77347A>C (p.Lys25783Gln) c.98842A>C (p.Lys32948Gln) c.98839A>C (p.Lys32947Gln) c.98272A>C (p.Lys32758Gln) c.95614A>C (p.Lys31872Gln) c.95533A>C (p.Lys31845Gln) c.77296A>C (p.Lys25766Gln) c.67150A>C (p.Lys22384Gln) | |
2 | g.178532215T>A | CA349411815 | TTN,TTN-AS1 | c.96696A>T (p.Arg32232Ser) c.77781A>T (p.Arg25927Ser) c.77580A>T (p.Arg25860Ser) c.77205A>T (p.Arg25735Ser) c.104400A>T (p.Arg34800Ser) c.99477A>T (p.Arg33159Ser) n.446+8579T>A n.220-3517T>A c.103497A>T (p.Arg34499Ser) c.77391A>T (p.Arg25797Ser) c.77250A>T (p.Arg25750Ser) c.103293A>T (p.Arg34431Ser) c.98691A>T (p.Arg32897Ser) c.98688A>T (p.Arg32896Ser) c.95730A>T (p.Arg31910Ser) c.77346A>T (p.Arg25782Ser) c.98841A>T (p.Arg32947Ser) c.98838A>T (p.Arg32946Ser) c.98271A>T (p.Arg32757Ser) c.95613A>T (p.Arg31871Ser) c.95532A>T (p.Arg31844Ser) c.77295A>T (p.Arg25765Ser) c.67149A>T (p.Arg22383Ser) | |
2 | g.178532215T>C | CA430235935 | TTN,TTN-AS1 | c.96696A>G (p.Arg32232=) c.77781A>G (p.Arg25927=) c.77580A>G (p.Arg25860=) c.77205A>G (p.Arg25735=) c.104400A>G (p.Arg34800=) c.99477A>G (p.Arg33159=) n.446+8579T>C n.220-3517T>C c.103497A>G (p.Arg34499=) c.77391A>G (p.Arg25797=) c.77250A>G (p.Arg25750=) c.103293A>G (p.Arg34431=) c.98691A>G (p.Arg32897=) c.98688A>G (p.Arg32896=) c.95730A>G (p.Arg31910=) c.77346A>G (p.Arg25782=) c.98841A>G (p.Arg32947=) c.98838A>G (p.Arg32946=) c.98271A>G (p.Arg32757=) c.95613A>G (p.Arg31871=) c.95532A>G (p.Arg31844=) c.77295A>G (p.Arg25765=) c.67149A>G (p.Arg22383=) | |
2 | g.178532215T>G | CA349411816 | TTN,TTN-AS1 | c.96696A>C (p.Arg32232Ser) c.77781A>C (p.Arg25927Ser) c.77580A>C (p.Arg25860Ser) c.77205A>C (p.Arg25735Ser) c.104400A>C (p.Arg34800Ser) c.99477A>C (p.Arg33159Ser) n.446+8579T>G n.220-3517T>G c.103497A>C (p.Arg34499Ser) c.77391A>C (p.Arg25797Ser) c.77250A>C (p.Arg25750Ser) c.103293A>C (p.Arg34431Ser) c.98691A>C (p.Arg32897Ser) c.98688A>C (p.Arg32896Ser) c.95730A>C (p.Arg31910Ser) c.77346A>C (p.Arg25782Ser) c.98841A>C (p.Arg32947Ser) c.98838A>C (p.Arg32946Ser) c.98271A>C (p.Arg32757Ser) c.95613A>C (p.Arg31871Ser) c.95532A>C (p.Arg31844Ser) c.77295A>C (p.Arg25765Ser) c.67149A>C (p.Arg22383Ser) | |
2 | g.178532215_178532216delinsTC | CA1310518128 | TTN,TTN-AS1 | c.96695_96696delinsGA (p.Arg32232=) c.77780_77781delinsGA (p.Arg25927=) c.77579_77580delinsGA (p.Arg25860=) c.77204_77205delinsGA (p.Arg25735=) c.104399_104400delinsGA (p.Arg34800=) c.99476_99477delinsGA (p.Arg33159=) n.446+8579_446+8580delinsTC n.220-3517_220-3516delinsTC c.103496_103497delinsGA (p.Arg34499=) c.77390_77391delinsGA (p.Arg25797=) c.77249_77250delinsGA (p.Arg25750=) c.103292_103293delinsGA (p.Arg34431=) c.98690_98691delinsGA (p.Arg32897=) c.98687_98688delinsGA (p.Arg32896=) c.95729_95730delinsGA (p.Arg31910=) c.77345_77346delinsGA (p.Arg25782=) c.98840_98841delinsGA (p.Arg32947=) c.98837_98838delinsGA (p.Arg32946=) c.98270_98271delinsGA (p.Arg32757=) c.95612_95613delinsGA (p.Arg31871=) c.95531_95532delinsGA (p.Arg31844=) c.77294_77295delinsGA (p.Arg25765=) c.67148_67149delinsGA (p.Arg22383=) | |
2 | g.178532216del | CA1985431 | TTN,TTN-AS1 | c.96695del (p.Arg32232LysfsTer10) c.77780del (p.Arg25927LysfsTer10) c.77579del (p.Arg25860LysfsTer10) c.77204del (p.Arg25735LysfsTer10) c.104399del (p.Arg34800LysfsTer10) c.99476del (p.Arg33159LysfsTer10) n.446+8580del n.220-3516del c.103496del (p.Arg34499LysfsTer10) c.77390del (p.Arg25797LysfsTer10) c.77249del (p.Arg25750LysfsTer10) c.103292del (p.Arg34431LysfsTer10) c.98690del (p.Arg32897LysfsTer10) c.98687del (p.Arg32896LysfsTer10) c.95729del (p.Arg31910LysfsTer10) c.77345del (p.Arg25782LysfsTer10) c.98840del (p.Arg32947LysfsTer10) c.98837del (p.Arg32946LysfsTer10) c.98270del (p.Arg32757LysfsTer10) c.95612del (p.Arg31871LysfsTer10) c.95531del (p.Arg31844LysfsTer10) c.77294del (p.Arg25765LysfsTer10) c.67148del (p.Arg22383LysfsTer10) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178532216C>A | CA349411817 | TTN,TTN-AS1 | c.96695G>T (p.Arg32232Ile) c.77780G>T (p.Arg25927Ile) c.77579G>T (p.Arg25860Ile) c.77204G>T (p.Arg25735Ile) c.104399G>T (p.Arg34800Ile) c.99476G>T (p.Arg33159Ile) n.446+8580C>A n.220-3516C>A c.103496G>T (p.Arg34499Ile) c.77390G>T (p.Arg25797Ile) c.77249G>T (p.Arg25750Ile) c.103292G>T (p.Arg34431Ile) c.98690G>T (p.Arg32897Ile) c.98687G>T (p.Arg32896Ile) c.95729G>T (p.Arg31910Ile) c.77345G>T (p.Arg25782Ile) c.98840G>T (p.Arg32947Ile) c.98837G>T (p.Arg32946Ile) c.98270G>T (p.Arg32757Ile) c.95612G>T (p.Arg31871Ile) c.95531G>T (p.Arg31844Ile) c.77294G>T (p.Arg25765Ile) c.67148G>T (p.Arg22383Ile) | |
2 | g.178532216C>G | CA349411818 | TTN,TTN-AS1 | c.96695G>C (p.Arg32232Thr) c.77780G>C (p.Arg25927Thr) c.77579G>C (p.Arg25860Thr) c.77204G>C (p.Arg25735Thr) c.104399G>C (p.Arg34800Thr) c.99476G>C (p.Arg33159Thr) n.446+8580C>G n.220-3516C>G c.103496G>C (p.Arg34499Thr) c.77390G>C (p.Arg25797Thr) c.77249G>C (p.Arg25750Thr) c.103292G>C (p.Arg34431Thr) c.98690G>C (p.Arg32897Thr) c.98687G>C (p.Arg32896Thr) c.95729G>C (p.Arg31910Thr) c.77345G>C (p.Arg25782Thr) c.98840G>C (p.Arg32947Thr) c.98837G>C (p.Arg32946Thr) c.98270G>C (p.Arg32757Thr) c.95612G>C (p.Arg31871Thr) c.95531G>C (p.Arg31844Thr) c.77294G>C (p.Arg25765Thr) c.67148G>C (p.Arg22383Thr) | |
2 | g.178532216C>T | CA349411819 | TTN,TTN-AS1 | c.96695G>A (p.Arg32232Lys) c.77780G>A (p.Arg25927Lys) c.77579G>A (p.Arg25860Lys) c.77204G>A (p.Arg25735Lys) c.104399G>A (p.Arg34800Lys) c.99476G>A (p.Arg33159Lys) n.446+8580C>T n.220-3516C>T c.103496G>A (p.Arg34499Lys) c.77390G>A (p.Arg25797Lys) c.77249G>A (p.Arg25750Lys) c.103292G>A (p.Arg34431Lys) c.98690G>A (p.Arg32897Lys) c.98687G>A (p.Arg32896Lys) c.95729G>A (p.Arg31910Lys) c.77345G>A (p.Arg25782Lys) c.98840G>A (p.Arg32947Lys) c.98837G>A (p.Arg32946Lys) c.98270G>A (p.Arg32757Lys) c.95612G>A (p.Arg31871Lys) c.95531G>A (p.Arg31844Lys) c.77294G>A (p.Arg25765Lys) c.67148G>A (p.Arg22383Lys) | |
2 | g.178532217T>A | CA349411820 | TTN,TTN-AS1 | c.96694A>T (p.Arg32232Ter) c.77779A>T (p.Arg25927Ter) c.77578A>T (p.Arg25860Ter) c.77203A>T (p.Arg25735Ter) c.104398A>T (p.Arg34800Ter) c.99475A>T (p.Arg33159Ter) n.446+8581T>A n.220-3515T>A c.103495A>T (p.Arg34499Ter) c.77389A>T (p.Arg25797Ter) c.77248A>T (p.Arg25750Ter) c.103291A>T (p.Arg34431Ter) c.98689A>T (p.Arg32897Ter) c.98686A>T (p.Arg32896Ter) c.95728A>T (p.Arg31910Ter) c.77344A>T (p.Arg25782Ter) c.98839A>T (p.Arg32947Ter) c.98836A>T (p.Arg32946Ter) c.98269A>T (p.Arg32757Ter) c.95611A>T (p.Arg31871Ter) c.95530A>T (p.Arg31844Ter) c.77293A>T (p.Arg25765Ter) c.67147A>T (p.Arg22383Ter) | |
2 | g.178532217T>C | CA349411821 | TTN,TTN-AS1 | c.96694A>G (p.Arg32232Gly) c.77779A>G (p.Arg25927Gly) c.77578A>G (p.Arg25860Gly) c.77203A>G (p.Arg25735Gly) c.104398A>G (p.Arg34800Gly) c.99475A>G (p.Arg33159Gly) n.446+8581T>C n.220-3515T>C c.103495A>G (p.Arg34499Gly) c.77389A>G (p.Arg25797Gly) c.77248A>G (p.Arg25750Gly) c.103291A>G (p.Arg34431Gly) c.98689A>G (p.Arg32897Gly) c.98686A>G (p.Arg32896Gly) c.95728A>G (p.Arg31910Gly) c.77344A>G (p.Arg25782Gly) c.98839A>G (p.Arg32947Gly) c.98836A>G (p.Arg32946Gly) c.98269A>G (p.Arg32757Gly) c.95611A>G (p.Arg31871Gly) c.95530A>G (p.Arg31844Gly) c.77293A>G (p.Arg25765Gly) c.67147A>G (p.Arg22383Gly) | |
2 | g.178532217T>G | CA430235936 | TTN,TTN-AS1 | c.96694A>C (p.Arg32232=) c.77779A>C (p.Arg25927=) c.77578A>C (p.Arg25860=) c.77203A>C (p.Arg25735=) c.104398A>C (p.Arg34800=) c.99475A>C (p.Arg33159=) n.446+8581T>G n.220-3515T>G c.103495A>C (p.Arg34499=) c.77389A>C (p.Arg25797=) c.77248A>C (p.Arg25750=) c.103291A>C (p.Arg34431=) c.98689A>C (p.Arg32897=) c.98686A>C (p.Arg32896=) c.95728A>C (p.Arg31910=) c.77344A>C (p.Arg25782=) c.98839A>C (p.Arg32947=) c.98836A>C (p.Arg32946=) c.98269A>C (p.Arg32757=) c.95611A>C (p.Arg31871=) c.95530A>C (p.Arg31844=) c.77293A>C (p.Arg25765=) c.67147A>C (p.Arg22383=) | |
2 | g.178532218A>C | CA430235937 | TTN,TTN-AS1 | c.96693T>G (p.Ser32231=) c.77778T>G (p.Ser25926=) c.77577T>G (p.Ser25859=) c.77202T>G (p.Ser25734=) c.104397T>G (p.Ser34799=) c.99474T>G (p.Ser33158=) n.446+8582A>C n.220-3514A>C c.103494T>G (p.Ser34498=) c.77388T>G (p.Ser25796=) c.77247T>G (p.Ser25749=) c.103290T>G (p.Ser34430=) c.98688T>G (p.Ser32896=) c.98685T>G (p.Ser32895=) c.95727T>G (p.Ser31909=) c.77343T>G (p.Ser25781=) c.98838T>G (p.Ser32946=) c.98835T>G (p.Ser32945=) c.98268T>G (p.Ser32756=) c.95610T>G (p.Ser31870=) c.95529T>G (p.Ser31843=) c.77292T>G (p.Ser25764=) c.67146T>G (p.Ser22382=) | |
2 | g.178532218A>G | CA430235938 | TTN,TTN-AS1 | c.96693T>C (p.Ser32231=) c.77778T>C (p.Ser25926=) c.77577T>C (p.Ser25859=) c.77202T>C (p.Ser25734=) c.104397T>C (p.Ser34799=) c.99474T>C (p.Ser33158=) n.446+8582A>G n.220-3514A>G c.103494T>C (p.Ser34498=) c.77388T>C (p.Ser25796=) c.77247T>C (p.Ser25749=) c.103290T>C (p.Ser34430=) c.98688T>C (p.Ser32896=) c.98685T>C (p.Ser32895=) c.95727T>C (p.Ser31909=) c.77343T>C (p.Ser25781=) c.98838T>C (p.Ser32946=) c.98835T>C (p.Ser32945=) c.98268T>C (p.Ser32756=) c.95610T>C (p.Ser31870=) c.95529T>C (p.Ser31843=) c.77292T>C (p.Ser25764=) c.67146T>C (p.Ser22382=) | |
2 | g.178532218A>T | CA430235939 | TTN,TTN-AS1 | c.96693T>A (p.Ser32231=) c.77778T>A (p.Ser25926=) c.77577T>A (p.Ser25859=) c.77202T>A (p.Ser25734=) c.104397T>A (p.Ser34799=) c.99474T>A (p.Ser33158=) n.446+8582A>T n.220-3514A>T c.103494T>A (p.Ser34498=) c.77388T>A (p.Ser25796=) c.77247T>A (p.Ser25749=) c.103290T>A (p.Ser34430=) c.98688T>A (p.Ser32896=) c.98685T>A (p.Ser32895=) c.95727T>A (p.Ser31909=) c.77343T>A (p.Ser25781=) c.98838T>A (p.Ser32946=) c.98835T>A (p.Ser32945=) c.98268T>A (p.Ser32756=) c.95610T>A (p.Ser31870=) c.95529T>A (p.Ser31843=) c.77292T>A (p.Ser25764=) c.67146T>A (p.Ser22382=) | |
2 | g.178532219G>A | CA349411824 | TTN,TTN-AS1 | c.96692C>T (p.Ser32231Phe) c.77777C>T (p.Ser25926Phe) c.77576C>T (p.Ser25859Phe) c.77201C>T (p.Ser25734Phe) c.104396C>T (p.Ser34799Phe) c.99473C>T (p.Ser33158Phe) n.446+8583G>A n.220-3513G>A c.103493C>T (p.Ser34498Phe) c.77387C>T (p.Ser25796Phe) c.77246C>T (p.Ser25749Phe) c.103289C>T (p.Ser34430Phe) c.98687C>T (p.Ser32896Phe) c.98684C>T (p.Ser32895Phe) c.95726C>T (p.Ser31909Phe) c.77342C>T (p.Ser25781Phe) c.98837C>T (p.Ser32946Phe) c.98834C>T (p.Ser32945Phe) c.98267C>T (p.Ser32756Phe) c.95609C>T (p.Ser31870Phe) c.95528C>T (p.Ser31843Phe) c.77291C>T (p.Ser25764Phe) c.67145C>T (p.Ser22382Phe) | gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
2 | g.178532219G>C | CA349411823 | TTN,TTN-AS1 | c.96692C>G (p.Ser32231Cys) c.77777C>G (p.Ser25926Cys) c.77576C>G (p.Ser25859Cys) c.77201C>G (p.Ser25734Cys) c.104396C>G (p.Ser34799Cys) c.99473C>G (p.Ser33158Cys) n.446+8583G>C n.220-3513G>C c.103493C>G (p.Ser34498Cys) c.77387C>G (p.Ser25796Cys) c.77246C>G (p.Ser25749Cys) c.103289C>G (p.Ser34430Cys) c.98687C>G (p.Ser32896Cys) c.98684C>G (p.Ser32895Cys) c.95726C>G (p.Ser31909Cys) c.77342C>G (p.Ser25781Cys) c.98837C>G (p.Ser32946Cys) c.98834C>G (p.Ser32945Cys) c.98267C>G (p.Ser32756Cys) c.95609C>G (p.Ser31870Cys) c.95528C>G (p.Ser31843Cys) c.77291C>G (p.Ser25764Cys) c.67145C>G (p.Ser22382Cys) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178532219G= | CA1310518129 | TTN,TTN-AS1 | c.96692C= (p.Ser32231=) c.77777C= (p.Ser25926=) c.77576C= (p.Ser25859=) c.77201C= (p.Ser25734=) c.104396C= (p.Ser34799=) c.99473C= (p.Ser33158=) n.446+8583G= n.220-3513G= c.103493C= (p.Ser34498=) c.77387C= (p.Ser25796=) c.77246C= (p.Ser25749=) c.103289C= (p.Ser34430=) c.98687C= (p.Ser32896=) c.98684C= (p.Ser32895=) c.95726C= (p.Ser31909=) c.77342C= (p.Ser25781=) c.98837C= (p.Ser32946=) c.98834C= (p.Ser32945=) c.98267C= (p.Ser32756=) c.95609C= (p.Ser31870=) c.95528C= (p.Ser31843=) c.77291C= (p.Ser25764=) c.67145C= (p.Ser22382=) | |
2 | g.178532219G>T | CA349411822 | TTN,TTN-AS1 | c.96692C>A (p.Ser32231Tyr) c.77777C>A (p.Ser25926Tyr) c.77576C>A (p.Ser25859Tyr) c.77201C>A (p.Ser25734Tyr) c.104396C>A (p.Ser34799Tyr) c.99473C>A (p.Ser33158Tyr) n.446+8583G>T n.220-3513G>T c.103493C>A (p.Ser34498Tyr) c.77387C>A (p.Ser25796Tyr) c.77246C>A (p.Ser25749Tyr) c.103289C>A (p.Ser34430Tyr) c.98687C>A (p.Ser32896Tyr) c.98684C>A (p.Ser32895Tyr) c.95726C>A (p.Ser31909Tyr) c.77342C>A (p.Ser25781Tyr) c.98837C>A (p.Ser32946Tyr) c.98834C>A (p.Ser32945Tyr) c.98267C>A (p.Ser32756Tyr) c.95609C>A (p.Ser31870Tyr) c.95528C>A (p.Ser31843Tyr) c.77291C>A (p.Ser25764Tyr) c.67145C>A (p.Ser22382Tyr) | |
2 | g.178532220A>C | CA349411827 | TTN,TTN-AS1 | c.96691T>G (p.Ser32231Ala) c.77776T>G (p.Ser25926Ala) c.77575T>G (p.Ser25859Ala) c.77200T>G (p.Ser25734Ala) c.104395T>G (p.Ser34799Ala) c.99472T>G (p.Ser33158Ala) n.446+8584A>C n.220-3512A>C c.103492T>G (p.Ser34498Ala) c.77386T>G (p.Ser25796Ala) c.77245T>G (p.Ser25749Ala) c.103288T>G (p.Ser34430Ala) c.98686T>G (p.Ser32896Ala) c.98683T>G (p.Ser32895Ala) c.95725T>G (p.Ser31909Ala) c.77341T>G (p.Ser25781Ala) c.98836T>G (p.Ser32946Ala) c.98833T>G (p.Ser32945Ala) c.98266T>G (p.Ser32756Ala) c.95608T>G (p.Ser31870Ala) c.95527T>G (p.Ser31843Ala) c.77290T>G (p.Ser25764Ala) c.67144T>G (p.Ser22382Ala) | |
2 | g.178532220A>G | CA349411825 | TTN,TTN-AS1 | c.96691T>C (p.Ser32231Pro) c.77776T>C (p.Ser25926Pro) c.77575T>C (p.Ser25859Pro) c.77200T>C (p.Ser25734Pro) c.104395T>C (p.Ser34799Pro) c.99472T>C (p.Ser33158Pro) n.446+8584A>G n.220-3512A>G c.103492T>C (p.Ser34498Pro) c.77386T>C (p.Ser25796Pro) c.77245T>C (p.Ser25749Pro) c.103288T>C (p.Ser34430Pro) c.98686T>C (p.Ser32896Pro) c.98683T>C (p.Ser32895Pro) c.95725T>C (p.Ser31909Pro) c.77341T>C (p.Ser25781Pro) c.98836T>C (p.Ser32946Pro) c.98833T>C (p.Ser32945Pro) c.98266T>C (p.Ser32756Pro) c.95608T>C (p.Ser31870Pro) c.95527T>C (p.Ser31843Pro) c.77290T>C (p.Ser25764Pro) c.67144T>C (p.Ser22382Pro) | |
2 | g.178532220A>T | CA349411826 | TTN,TTN-AS1 | c.96691T>A (p.Ser32231Thr) c.77776T>A (p.Ser25926Thr) c.77575T>A (p.Ser25859Thr) c.77200T>A (p.Ser25734Thr) c.104395T>A (p.Ser34799Thr) c.99472T>A (p.Ser33158Thr) n.446+8584A>T n.220-3512A>T c.103492T>A (p.Ser34498Thr) c.77386T>A (p.Ser25796Thr) c.77245T>A (p.Ser25749Thr) c.103288T>A (p.Ser34430Thr) c.98686T>A (p.Ser32896Thr) c.98683T>A (p.Ser32895Thr) c.95725T>A (p.Ser31909Thr) c.77341T>A (p.Ser25781Thr) c.98836T>A (p.Ser32946Thr) c.98833T>A (p.Ser32945Thr) c.98266T>A (p.Ser32756Thr) c.95608T>A (p.Ser31870Thr) c.95527T>A (p.Ser31843Thr) c.77290T>A (p.Ser25764Thr) c.67144T>A (p.Ser22382Thr) | |
2 | g.178532221C>A | CA349411828 | TTN,TTN-AS1 | c.96690G>T (p.Lys32230Asn) c.77775G>T (p.Lys25925Asn) c.77574G>T (p.Lys25858Asn) c.77199G>T (p.Lys25733Asn) c.104394G>T (p.Lys34798Asn) c.99471G>T (p.Lys33157Asn) n.446+8585C>A n.220-3511C>A c.103491G>T (p.Lys34497Asn) c.77385G>T (p.Lys25795Asn) c.77244G>T (p.Lys25748Asn) c.103287G>T (p.Lys34429Asn) c.98685G>T (p.Lys32895Asn) c.98682G>T (p.Lys32894Asn) c.95724G>T (p.Lys31908Asn) c.77340G>T (p.Lys25780Asn) c.98835G>T (p.Lys32945Asn) c.98832G>T (p.Lys32944Asn) c.98265G>T (p.Lys32755Asn) c.95607G>T (p.Lys31869Asn) c.95526G>T (p.Lys31842Asn) c.77289G>T (p.Lys25763Asn) c.67143G>T (p.Lys22381Asn) | |
2 | g.178532221C>G | CA349411829 | TTN,TTN-AS1 | c.96690G>C (p.Lys32230Asn) c.77775G>C (p.Lys25925Asn) c.77574G>C (p.Lys25858Asn) c.77199G>C (p.Lys25733Asn) c.104394G>C (p.Lys34798Asn) c.99471G>C (p.Lys33157Asn) n.446+8585C>G n.220-3511C>G c.103491G>C (p.Lys34497Asn) c.77385G>C (p.Lys25795Asn) c.77244G>C (p.Lys25748Asn) c.103287G>C (p.Lys34429Asn) c.98685G>C (p.Lys32895Asn) c.98682G>C (p.Lys32894Asn) c.95724G>C (p.Lys31908Asn) c.77340G>C (p.Lys25780Asn) c.98835G>C (p.Lys32945Asn) c.98832G>C (p.Lys32944Asn) c.98265G>C (p.Lys32755Asn) c.95607G>C (p.Lys31869Asn) c.95526G>C (p.Lys31842Asn) c.77289G>C (p.Lys25763Asn) c.67143G>C (p.Lys22381Asn) | |
2 | g.178532221C>T | CA430235940 | TTN,TTN-AS1 | c.96690G>A (p.Lys32230=) c.77775G>A (p.Lys25925=) c.77574G>A (p.Lys25858=) c.77199G>A (p.Lys25733=) c.104394G>A (p.Lys34798=) c.99471G>A (p.Lys33157=) n.446+8585C>T n.220-3511C>T c.103491G>A (p.Lys34497=) c.77385G>A (p.Lys25795=) c.77244G>A (p.Lys25748=) c.103287G>A (p.Lys34429=) c.98685G>A (p.Lys32895=) c.98682G>A (p.Lys32894=) c.95724G>A (p.Lys31908=) c.77340G>A (p.Lys25780=) c.98835G>A (p.Lys32945=) c.98832G>A (p.Lys32944=) c.98265G>A (p.Lys32755=) c.95607G>A (p.Lys31869=) c.95526G>A (p.Lys31842=) c.77289G>A (p.Lys25763=) c.67143G>A (p.Lys22381=) | |
2 | g.178532222T>A | CA349411830 | TTN,TTN-AS1 | c.96689A>T (p.Lys32230Met) c.77774A>T (p.Lys25925Met) c.77573A>T (p.Lys25858Met) c.77198A>T (p.Lys25733Met) c.104393A>T (p.Lys34798Met) c.99470A>T (p.Lys33157Met) n.446+8586T>A n.220-3510T>A c.103490A>T (p.Lys34497Met) c.77384A>T (p.Lys25795Met) c.77243A>T (p.Lys25748Met) c.103286A>T (p.Lys34429Met) c.98684A>T (p.Lys32895Met) c.98681A>T (p.Lys32894Met) c.95723A>T (p.Lys31908Met) c.77339A>T (p.Lys25780Met) c.98834A>T (p.Lys32945Met) c.98831A>T (p.Lys32944Met) c.98264A>T (p.Lys32755Met) c.95606A>T (p.Lys31869Met) c.95525A>T (p.Lys31842Met) c.77288A>T (p.Lys25763Met) c.67142A>T (p.Lys22381Met) | dbSNP |
2 | g.178532222T>C | CA349411831 | TTN,TTN-AS1 | c.96689A>G (p.Lys32230Arg) c.77774A>G (p.Lys25925Arg) c.77573A>G (p.Lys25858Arg) c.77198A>G (p.Lys25733Arg) c.104393A>G (p.Lys34798Arg) c.99470A>G (p.Lys33157Arg) n.446+8586T>C n.220-3510T>C c.103490A>G (p.Lys34497Arg) c.77384A>G (p.Lys25795Arg) c.77243A>G (p.Lys25748Arg) c.103286A>G (p.Lys34429Arg) c.98684A>G (p.Lys32895Arg) c.98681A>G (p.Lys32894Arg) c.95723A>G (p.Lys31908Arg) c.77339A>G (p.Lys25780Arg) c.98834A>G (p.Lys32945Arg) c.98831A>G (p.Lys32944Arg) c.98264A>G (p.Lys32755Arg) c.95606A>G (p.Lys31869Arg) c.95525A>G (p.Lys31842Arg) c.77288A>G (p.Lys25763Arg) c.67142A>G (p.Lys22381Arg) | |
2 | g.178532222T>G | CA349411832 | TTN,TTN-AS1 | c.96689A>C (p.Lys32230Thr) c.77774A>C (p.Lys25925Thr) c.77573A>C (p.Lys25858Thr) c.77198A>C (p.Lys25733Thr) c.104393A>C (p.Lys34798Thr) c.99470A>C (p.Lys33157Thr) n.446+8586T>G n.220-3510T>G c.103490A>C (p.Lys34497Thr) c.77384A>C (p.Lys25795Thr) c.77243A>C (p.Lys25748Thr) c.103286A>C (p.Lys34429Thr) c.98684A>C (p.Lys32895Thr) c.98681A>C (p.Lys32894Thr) c.95723A>C (p.Lys31908Thr) c.77339A>C (p.Lys25780Thr) c.98834A>C (p.Lys32945Thr) c.98831A>C (p.Lys32944Thr) c.98264A>C (p.Lys32755Thr) c.95606A>C (p.Lys31869Thr) c.95525A>C (p.Lys31842Thr) c.77288A>C (p.Lys25763Thr) c.67142A>C (p.Lys22381Thr) | ClinVar |
2 | g.178532222T= | CA1310518130 | TTN,TTN-AS1 | c.96689A= (p.Lys32230=) c.77774A= (p.Lys25925=) c.77573A= (p.Lys25858=) c.77198A= (p.Lys25733=) c.104393A= (p.Lys34798=) c.99470A= (p.Lys33157=) n.446+8586T= n.220-3510T= c.103490A= (p.Lys34497=) c.77384A= (p.Lys25795=) c.77243A= (p.Lys25748=) c.103286A= (p.Lys34429=) c.98684A= (p.Lys32895=) c.98681A= (p.Lys32894=) c.95723A= (p.Lys31908=) c.77339A= (p.Lys25780=) c.98834A= (p.Lys32945=) c.98831A= (p.Lys32944=) c.98264A= (p.Lys32755=) c.95606A= (p.Lys31869=) c.95525A= (p.Lys31842=) c.77288A= (p.Lys25763=) c.67142A= (p.Lys22381=) | |
2 | g.178532225del | CA2580064616 | TTN,TTN-AS1 | c.96689del (p.Lys32230SerfsTer12) c.77774del (p.Lys25925SerfsTer12) c.77573del (p.Lys25858SerfsTer12) c.77198del (p.Lys25733SerfsTer12) c.104393del (p.Lys34798SerfsTer12) c.99470del (p.Lys33157SerfsTer12) n.446+8589del n.220-3507del c.103490del (p.Lys34497SerfsTer12) c.77384del (p.Lys25795SerfsTer12) c.77243del (p.Lys25748SerfsTer12) c.103286del (p.Lys34429SerfsTer12) c.98684del (p.Lys32895SerfsTer12) c.98681del (p.Lys32894SerfsTer12) c.95723del (p.Lys31908SerfsTer12) c.77339del (p.Lys25780SerfsTer12) c.98834del (p.Lys32945SerfsTer12) c.98831del (p.Lys32944SerfsTer12) c.98264del (p.Lys32755SerfsTer12) c.95606del (p.Lys31869SerfsTer12) c.95525del (p.Lys31842SerfsTer12) c.77288del (p.Lys25763SerfsTer12) c.67142del (p.Lys22381SerfsTer12) | ClinVar |
2 | g.178532223T>A | CA349411835 | TTN,TTN-AS1 | c.96688A>T (p.Lys32230Ter) c.77773A>T (p.Lys25925Ter) c.77572A>T (p.Lys25858Ter) c.77197A>T (p.Lys25733Ter) c.104392A>T (p.Lys34798Ter) c.99469A>T (p.Lys33157Ter) n.446+8587T>A n.220-3509T>A c.103489A>T (p.Lys34497Ter) c.77383A>T (p.Lys25795Ter) c.77242A>T (p.Lys25748Ter) c.103285A>T (p.Lys34429Ter) c.98683A>T (p.Lys32895Ter) c.98680A>T (p.Lys32894Ter) c.95722A>T (p.Lys31908Ter) c.77338A>T (p.Lys25780Ter) c.98833A>T (p.Lys32945Ter) c.98830A>T (p.Lys32944Ter) c.98263A>T (p.Lys32755Ter) c.95605A>T (p.Lys31869Ter) c.95524A>T (p.Lys31842Ter) c.77287A>T (p.Lys25763Ter) c.67141A>T (p.Lys22381Ter) | |
2 | g.178532223T>C | CA349411833 | TTN,TTN-AS1 | c.96688A>G (p.Lys32230Glu) c.77773A>G (p.Lys25925Glu) c.77572A>G (p.Lys25858Glu) c.77197A>G (p.Lys25733Glu) c.104392A>G (p.Lys34798Glu) c.99469A>G (p.Lys33157Glu) n.446+8587T>C n.220-3509T>C c.103489A>G (p.Lys34497Glu) c.77383A>G (p.Lys25795Glu) c.77242A>G (p.Lys25748Glu) c.103285A>G (p.Lys34429Glu) c.98683A>G (p.Lys32895Glu) c.98680A>G (p.Lys32894Glu) c.95722A>G (p.Lys31908Glu) c.77338A>G (p.Lys25780Glu) c.98833A>G (p.Lys32945Glu) c.98830A>G (p.Lys32944Glu) c.98263A>G (p.Lys32755Glu) c.95605A>G (p.Lys31869Glu) c.95524A>G (p.Lys31842Glu) c.77287A>G (p.Lys25763Glu) c.67141A>G (p.Lys22381Glu) | |
2 | g.178532223T>G | CA349411834 | TTN,TTN-AS1 | c.96688A>C (p.Lys32230Gln) c.77773A>C (p.Lys25925Gln) c.77572A>C (p.Lys25858Gln) c.77197A>C (p.Lys25733Gln) c.104392A>C (p.Lys34798Gln) c.99469A>C (p.Lys33157Gln) n.446+8587T>G n.220-3509T>G c.103489A>C (p.Lys34497Gln) c.77383A>C (p.Lys25795Gln) c.77242A>C (p.Lys25748Gln) c.103285A>C (p.Lys34429Gln) c.98683A>C (p.Lys32895Gln) c.98680A>C (p.Lys32894Gln) c.95722A>C (p.Lys31908Gln) c.77338A>C (p.Lys25780Gln) c.98833A>C (p.Lys32945Gln) c.98830A>C (p.Lys32944Gln) c.98263A>C (p.Lys32755Gln) c.95605A>C (p.Lys31869Gln) c.95524A>C (p.Lys31842Gln) c.77287A>C (p.Lys25763Gln) c.67141A>C (p.Lys22381Gln) | |
2 | g.178532224T>A | CA349411836 | TTN,TTN-AS1 | c.96687A>T (p.Glu32229Asp) c.77772A>T (p.Glu25924Asp) c.77571A>T (p.Glu25857Asp) c.77196A>T (p.Glu25732Asp) c.104391A>T (p.Glu34797Asp) c.99468A>T (p.Glu33156Asp) n.446+8588T>A n.220-3508T>A c.103488A>T (p.Glu34496Asp) c.77382A>T (p.Glu25794Asp) c.77241A>T (p.Glu25747Asp) c.103284A>T (p.Glu34428Asp) c.98682A>T (p.Glu32894Asp) c.98679A>T (p.Glu32893Asp) c.95721A>T (p.Glu31907Asp) c.77337A>T (p.Glu25779Asp) c.98832A>T (p.Glu32944Asp) c.98829A>T (p.Glu32943Asp) c.98262A>T (p.Glu32754Asp) c.95604A>T (p.Glu31868Asp) c.95523A>T (p.Glu31841Asp) c.77286A>T (p.Glu25762Asp) c.67140A>T (p.Glu22380Asp) | |
2 | g.178532224T>C | CA430235941 | TTN,TTN-AS1 | c.96687A>G (p.Glu32229=) c.77772A>G (p.Glu25924=) c.77571A>G (p.Glu25857=) c.77196A>G (p.Glu25732=) c.104391A>G (p.Glu34797=) c.99468A>G (p.Glu33156=) n.446+8588T>C n.220-3508T>C c.103488A>G (p.Glu34496=) c.77382A>G (p.Glu25794=) c.77241A>G (p.Glu25747=) c.103284A>G (p.Glu34428=) c.98682A>G (p.Glu32894=) c.98679A>G (p.Glu32893=) c.95721A>G (p.Glu31907=) c.77337A>G (p.Glu25779=) c.98832A>G (p.Glu32944=) c.98829A>G (p.Glu32943=) c.98262A>G (p.Glu32754=) c.95604A>G (p.Glu31868=) c.95523A>G (p.Glu31841=) c.77286A>G (p.Glu25762=) c.67140A>G (p.Glu22380=) | |
2 | g.178532224T>G | CA349411837 | TTN,TTN-AS1 | c.96687A>C (p.Glu32229Asp) c.77772A>C (p.Glu25924Asp) c.77571A>C (p.Glu25857Asp) c.77196A>C (p.Glu25732Asp) c.104391A>C (p.Glu34797Asp) c.99468A>C (p.Glu33156Asp) n.446+8588T>G n.220-3508T>G c.103488A>C (p.Glu34496Asp) c.77382A>C (p.Glu25794Asp) c.77241A>C (p.Glu25747Asp) c.103284A>C (p.Glu34428Asp) c.98682A>C (p.Glu32894Asp) c.98679A>C (p.Glu32893Asp) c.95721A>C (p.Glu31907Asp) c.77337A>C (p.Glu25779Asp) c.98832A>C (p.Glu32944Asp) c.98829A>C (p.Glu32943Asp) c.98262A>C (p.Glu32754Asp) c.95604A>C (p.Glu31868Asp) c.95523A>C (p.Glu31841Asp) c.77286A>C (p.Glu25762Asp) c.67140A>C (p.Glu22380Asp) | |
2 | g.178532225T>A | CA349411838 | TTN,TTN-AS1 | c.96686A>T (p.Glu32229Val) c.77771A>T (p.Glu25924Val) c.77570A>T (p.Glu25857Val) c.77195A>T (p.Glu25732Val) c.104390A>T (p.Glu34797Val) c.99467A>T (p.Glu33156Val) n.446+8589T>A n.220-3507T>A c.103487A>T (p.Glu34496Val) c.77381A>T (p.Glu25794Val) c.77240A>T (p.Glu25747Val) c.103283A>T (p.Glu34428Val) c.98681A>T (p.Glu32894Val) c.98678A>T (p.Glu32893Val) c.95720A>T (p.Glu31907Val) c.77336A>T (p.Glu25779Val) c.98831A>T (p.Glu32944Val) c.98828A>T (p.Glu32943Val) c.98261A>T (p.Glu32754Val) c.95603A>T (p.Glu31868Val) c.95522A>T (p.Glu31841Val) c.77285A>T (p.Glu25762Val) c.67139A>T (p.Glu22380Val) | |
2 | g.178532225T>C | CA349411839 | TTN,TTN-AS1 | c.96686A>G (p.Glu32229Gly) c.77771A>G (p.Glu25924Gly) c.77570A>G (p.Glu25857Gly) c.77195A>G (p.Glu25732Gly) c.104390A>G (p.Glu34797Gly) c.99467A>G (p.Glu33156Gly) n.446+8589T>C n.220-3507T>C c.103487A>G (p.Glu34496Gly) c.77381A>G (p.Glu25794Gly) c.77240A>G (p.Glu25747Gly) c.103283A>G (p.Glu34428Gly) c.98681A>G (p.Glu32894Gly) c.98678A>G (p.Glu32893Gly) c.95720A>G (p.Glu31907Gly) c.77336A>G (p.Glu25779Gly) c.98831A>G (p.Glu32944Gly) c.98828A>G (p.Glu32943Gly) c.98261A>G (p.Glu32754Gly) c.95603A>G (p.Glu31868Gly) c.95522A>G (p.Glu31841Gly) c.77285A>G (p.Glu25762Gly) c.67139A>G (p.Glu22380Gly) | |
2 | g.178532225T>G | CA60956253 | TTN,TTN-AS1 | c.96686A>C (p.Glu32229Ala) c.77771A>C (p.Glu25924Ala) c.77570A>C (p.Glu25857Ala) c.77195A>C (p.Glu25732Ala) c.104390A>C (p.Glu34797Ala) c.99467A>C (p.Glu33156Ala) n.446+8589T>G n.220-3507T>G c.103487A>C (p.Glu34496Ala) c.77381A>C (p.Glu25794Ala) c.77240A>C (p.Glu25747Ala) c.103283A>C (p.Glu34428Ala) c.98681A>C (p.Glu32894Ala) c.98678A>C (p.Glu32893Ala) c.95720A>C (p.Glu31907Ala) c.77336A>C (p.Glu25779Ala) c.98831A>C (p.Glu32944Ala) c.98828A>C (p.Glu32943Ala) c.98261A>C (p.Glu32754Ala) c.95603A>C (p.Glu31868Ala) c.95522A>C (p.Glu31841Ala) c.77285A>C (p.Glu25762Ala) c.67139A>C (p.Glu22380Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
2 | g.178532225T= | CA1310518131 | TTN,TTN-AS1 | c.96686A= (p.Glu32229=) c.77771A= (p.Glu25924=) c.77570A= (p.Glu25857=) c.77195A= (p.Glu25732=) c.104390A= (p.Glu34797=) c.99467A= (p.Glu33156=) n.446+8589T= n.220-3507T= c.103487A= (p.Glu34496=) c.77381A= (p.Glu25794=) c.77240A= (p.Glu25747=) c.103283A= (p.Glu34428=) c.98681A= (p.Glu32894=) c.98678A= (p.Glu32893=) c.95720A= (p.Glu31907=) c.77336A= (p.Glu25779=) c.98831A= (p.Glu32944=) c.98828A= (p.Glu32943=) c.98261A= (p.Glu32754=) c.95603A= (p.Glu31868=) c.95522A= (p.Glu31841=) c.77285A= (p.Glu25762=) c.67139A= (p.Glu22380=) | |
2 | g.178532226C>A | CA349411842 | TTN,TTN-AS1 | c.96685G>T (p.Glu32229Ter) c.77770G>T (p.Glu25924Ter) c.77569G>T (p.Glu25857Ter) c.77194G>T (p.Glu25732Ter) c.104389G>T (p.Glu34797Ter) c.99466G>T (p.Glu33156Ter) n.446+8590C>A n.220-3506C>A c.103486G>T (p.Glu34496Ter) c.77380G>T (p.Glu25794Ter) c.77239G>T (p.Glu25747Ter) c.103282G>T (p.Glu34428Ter) c.98680G>T (p.Glu32894Ter) c.98677G>T (p.Glu32893Ter) c.95719G>T (p.Glu31907Ter) c.77335G>T (p.Glu25779Ter) c.98830G>T (p.Glu32944Ter) c.98827G>T (p.Glu32943Ter) c.98260G>T (p.Glu32754Ter) c.95602G>T (p.Glu31868Ter) c.95521G>T (p.Glu31841Ter) c.77284G>T (p.Glu25762Ter) c.67138G>T (p.Glu22380Ter) | |
2 | g.178532226C= | CA1310518132 | TTN,TTN-AS1 | c.96685G= (p.Glu32229=) c.77770G= (p.Glu25924=) c.77569G= (p.Glu25857=) c.77194G= (p.Glu25732=) c.104389G= (p.Glu34797=) c.99466G= (p.Glu33156=) n.446+8590C= n.220-3506C= c.103486G= (p.Glu34496=) c.77380G= (p.Glu25794=) c.77239G= (p.Glu25747=) c.103282G= (p.Glu34428=) c.98680G= (p.Glu32894=) c.98677G= (p.Glu32893=) c.95719G= (p.Glu31907=) c.77335G= (p.Glu25779=) c.98830G= (p.Glu32944=) c.98827G= (p.Glu32943=) c.98260G= (p.Glu32754=) c.95602G= (p.Glu31868=) c.95521G= (p.Glu31841=) c.77284G= (p.Glu25762=) c.67138G= (p.Glu22380=) | |
2 | g.178532226C>G | CA349411840 | TTN,TTN-AS1 | c.96685G>C (p.Glu32229Gln) c.77770G>C (p.Glu25924Gln) c.77569G>C (p.Glu25857Gln) c.77194G>C (p.Glu25732Gln) c.104389G>C (p.Glu34797Gln) c.99466G>C (p.Glu33156Gln) n.446+8590C>G n.220-3506C>G c.103486G>C (p.Glu34496Gln) c.77380G>C (p.Glu25794Gln) c.77239G>C (p.Glu25747Gln) c.103282G>C (p.Glu34428Gln) c.98680G>C (p.Glu32894Gln) c.98677G>C (p.Glu32893Gln) c.95719G>C (p.Glu31907Gln) c.77335G>C (p.Glu25779Gln) c.98830G>C (p.Glu32944Gln) c.98827G>C (p.Glu32943Gln) c.98260G>C (p.Glu32754Gln) c.95602G>C (p.Glu31868Gln) c.95521G>C (p.Glu31841Gln) c.77284G>C (p.Glu25762Gln) c.67138G>C (p.Glu22380Gln) | COSMIC COSMIC COSMIC COSMIC |
2 | g.178532226C>T | CA349411841 | TTN,TTN-AS1 | c.96685G>A (p.Glu32229Lys) c.77770G>A (p.Glu25924Lys) c.77569G>A (p.Glu25857Lys) c.77194G>A (p.Glu25732Lys) c.104389G>A (p.Glu34797Lys) c.99466G>A (p.Glu33156Lys) n.446+8590C>T n.220-3506C>T c.103486G>A (p.Glu34496Lys) c.77380G>A (p.Glu25794Lys) c.77239G>A (p.Glu25747Lys) c.103282G>A (p.Glu34428Lys) c.98680G>A (p.Glu32894Lys) c.98677G>A (p.Glu32893Lys) c.95719G>A (p.Glu31907Lys) c.77335G>A (p.Glu25779Lys) c.98830G>A (p.Glu32944Lys) c.98827G>A (p.Glu32943Lys) c.98260G>A (p.Glu32754Lys) c.95602G>A (p.Glu31868Lys) c.95521G>A (p.Glu31841Lys) c.77284G>A (p.Glu25762Lys) c.67138G>A (p.Glu22380Lys) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
2 | g.178532227C>A | CA349411843 | TTN,TTN-AS1 | c.96684G>T (p.Glu32228Asp) c.77769G>T (p.Glu25923Asp) c.77568G>T (p.Glu25856Asp) c.77193G>T (p.Glu25731Asp) c.104388G>T (p.Glu34796Asp) c.99465G>T (p.Glu33155Asp) n.446+8591C>A n.220-3505C>A c.103485G>T (p.Glu34495Asp) c.77379G>T (p.Glu25793Asp) c.77238G>T (p.Glu25746Asp) c.103281G>T (p.Glu34427Asp) c.98679G>T (p.Glu32893Asp) c.98676G>T (p.Glu32892Asp) c.95718G>T (p.Glu31906Asp) c.77334G>T (p.Glu25778Asp) c.98829G>T (p.Glu32943Asp) c.98826G>T (p.Glu32942Asp) c.98259G>T (p.Glu32753Asp) c.95601G>T (p.Glu31867Asp) c.95520G>T (p.Glu31840Asp) c.77283G>T (p.Glu25761Asp) c.67137G>T (p.Glu22379Asp) | |
2 | g.178532227C>G | CA349411844 | TTN,TTN-AS1 | c.96684G>C (p.Glu32228Asp) c.77769G>C (p.Glu25923Asp) c.77568G>C (p.Glu25856Asp) c.77193G>C (p.Glu25731Asp) c.104388G>C (p.Glu34796Asp) c.99465G>C (p.Glu33155Asp) n.446+8591C>G n.220-3505C>G c.103485G>C (p.Glu34495Asp) c.77379G>C (p.Glu25793Asp) c.77238G>C (p.Glu25746Asp) c.103281G>C (p.Glu34427Asp) c.98679G>C (p.Glu32893Asp) c.98676G>C (p.Glu32892Asp) c.95718G>C (p.Glu31906Asp) c.77334G>C (p.Glu25778Asp) c.98829G>C (p.Glu32943Asp) c.98826G>C (p.Glu32942Asp) c.98259G>C (p.Glu32753Asp) c.95601G>C (p.Glu31867Asp) c.95520G>C (p.Glu31840Asp) c.77283G>C (p.Glu25761Asp) c.67137G>C (p.Glu22379Asp) | gnomAD v4 |
2 | g.178532227C>T | CA430235942 | TTN,TTN-AS1 | c.96684G>A (p.Glu32228=) c.77769G>A (p.Glu25923=) c.77568G>A (p.Glu25856=) c.77193G>A (p.Glu25731=) c.104388G>A (p.Glu34796=) c.99465G>A (p.Glu33155=) n.446+8591C>T n.220-3505C>T c.103485G>A (p.Glu34495=) c.77379G>A (p.Glu25793=) c.77238G>A (p.Glu25746=) c.103281G>A (p.Glu34427=) c.98679G>A (p.Glu32893=) c.98676G>A (p.Glu32892=) c.95718G>A (p.Glu31906=) c.77334G>A (p.Glu25778=) c.98829G>A (p.Glu32943=) c.98826G>A (p.Glu32942=) c.98259G>A (p.Glu32753=) c.95601G>A (p.Glu31867=) c.95520G>A (p.Glu31840=) c.77283G>A (p.Glu25761=) c.67137G>A (p.Glu22379=) | |
2 | g.178532228T>A | CA349411845 | TTN,TTN-AS1 | c.96683A>T (p.Glu32228Val) c.77768A>T (p.Glu25923Val) c.77567A>T (p.Glu25856Val) c.77192A>T (p.Glu25731Val) c.104387A>T (p.Glu34796Val) c.99464A>T (p.Glu33155Val) n.446+8592T>A n.220-3504T>A c.103484A>T (p.Glu34495Val) c.77378A>T (p.Glu25793Val) c.77237A>T (p.Glu25746Val) c.103280A>T (p.Glu34427Val) c.98678A>T (p.Glu32893Val) c.98675A>T (p.Glu32892Val) c.95717A>T (p.Glu31906Val) c.77333A>T (p.Glu25778Val) c.98828A>T (p.Glu32943Val) c.98825A>T (p.Glu32942Val) c.98258A>T (p.Glu32753Val) c.95600A>T (p.Glu31867Val) c.95519A>T (p.Glu31840Val) c.77282A>T (p.Glu25761Val) c.67136A>T (p.Glu22379Val) | |
2 | g.178532228T>C | CA349411846 | TTN,TTN-AS1 | c.96683A>G (p.Glu32228Gly) c.77768A>G (p.Glu25923Gly) c.77567A>G (p.Glu25856Gly) c.77192A>G (p.Glu25731Gly) c.104387A>G (p.Glu34796Gly) c.99464A>G (p.Glu33155Gly) n.446+8592T>C n.220-3504T>C c.103484A>G (p.Glu34495Gly) c.77378A>G (p.Glu25793Gly) c.77237A>G (p.Glu25746Gly) c.103280A>G (p.Glu34427Gly) c.98678A>G (p.Glu32893Gly) c.98675A>G (p.Glu32892Gly) c.95717A>G (p.Glu31906Gly) c.77333A>G (p.Glu25778Gly) c.98828A>G (p.Glu32943Gly) c.98825A>G (p.Glu32942Gly) c.98258A>G (p.Glu32753Gly) c.95600A>G (p.Glu31867Gly) c.95519A>G (p.Glu31840Gly) c.77282A>G (p.Glu25761Gly) c.67136A>G (p.Glu22379Gly) | |
2 | g.178532228T>G | CA349411847 | TTN,TTN-AS1 | c.96683A>C (p.Glu32228Ala) c.77768A>C (p.Glu25923Ala) c.77567A>C (p.Glu25856Ala) c.77192A>C (p.Glu25731Ala) c.104387A>C (p.Glu34796Ala) c.99464A>C (p.Glu33155Ala) n.446+8592T>G n.220-3504T>G c.103484A>C (p.Glu34495Ala) c.77378A>C (p.Glu25793Ala) c.77237A>C (p.Glu25746Ala) c.103280A>C (p.Glu34427Ala) c.98678A>C (p.Glu32893Ala) c.98675A>C (p.Glu32892Ala) c.95717A>C (p.Glu31906Ala) c.77333A>C (p.Glu25778Ala) c.98828A>C (p.Glu32943Ala) c.98825A>C (p.Glu32942Ala) c.98258A>C (p.Glu32753Ala) c.95600A>C (p.Glu31867Ala) c.95519A>C (p.Glu31840Ala) c.77282A>C (p.Glu25761Ala) c.67136A>C (p.Glu22379Ala) | |
2 | g.178532229C>A | CA349411850 | TTN,TTN-AS1 | c.96682G>T (p.Glu32228Ter) c.77767G>T (p.Glu25923Ter) c.77566G>T (p.Glu25856Ter) c.77191G>T (p.Glu25731Ter) c.104386G>T (p.Glu34796Ter) c.99463G>T (p.Glu33155Ter) n.446+8593C>A n.220-3503C>A c.103483G>T (p.Glu34495Ter) c.77377G>T (p.Glu25793Ter) c.77236G>T (p.Glu25746Ter) c.103279G>T (p.Glu34427Ter) c.98677G>T (p.Glu32893Ter) c.98674G>T (p.Glu32892Ter) c.95716G>T (p.Glu31906Ter) c.77332G>T (p.Glu25778Ter) c.98827G>T (p.Glu32943Ter) c.98824G>T (p.Glu32942Ter) c.98257G>T (p.Glu32753Ter) c.95599G>T (p.Glu31867Ter) c.95518G>T (p.Glu31840Ter) c.77281G>T (p.Glu25761Ter) c.67135G>T (p.Glu22379Ter) | |
2 | g.178532229C>G | CA349411849 | TTN,TTN-AS1 | c.96682G>C (p.Glu32228Gln) c.77767G>C (p.Glu25923Gln) c.77566G>C (p.Glu25856Gln) c.77191G>C (p.Glu25731Gln) c.104386G>C (p.Glu34796Gln) c.99463G>C (p.Glu33155Gln) n.446+8593C>G n.220-3503C>G c.103483G>C (p.Glu34495Gln) c.77377G>C (p.Glu25793Gln) c.77236G>C (p.Glu25746Gln) c.103279G>C (p.Glu34427Gln) c.98677G>C (p.Glu32893Gln) c.98674G>C (p.Glu32892Gln) c.95716G>C (p.Glu31906Gln) c.77332G>C (p.Glu25778Gln) c.98827G>C (p.Glu32943Gln) c.98824G>C (p.Glu32942Gln) c.98257G>C (p.Glu32753Gln) c.95599G>C (p.Glu31867Gln) c.95518G>C (p.Glu31840Gln) c.77281G>C (p.Glu25761Gln) c.67135G>C (p.Glu22379Gln) | |
2 | g.178532229C>T | CA349411848 | TTN,TTN-AS1 | c.96682G>A (p.Glu32228Lys) c.77767G>A (p.Glu25923Lys) c.77566G>A (p.Glu25856Lys) c.77191G>A (p.Glu25731Lys) c.104386G>A (p.Glu34796Lys) c.99463G>A (p.Glu33155Lys) n.446+8593C>T n.220-3503C>T c.103483G>A (p.Glu34495Lys) c.77377G>A (p.Glu25793Lys) c.77236G>A (p.Glu25746Lys) c.103279G>A (p.Glu34427Lys) c.98677G>A (p.Glu32893Lys) c.98674G>A (p.Glu32892Lys) c.95716G>A (p.Glu31906Lys) c.77332G>A (p.Glu25778Lys) c.98827G>A (p.Glu32943Lys) c.98824G>A (p.Glu32942Lys) c.98257G>A (p.Glu32753Lys) c.95599G>A (p.Glu31867Lys) c.95518G>A (p.Glu31840Lys) c.77281G>A (p.Glu25761Lys) c.67135G>A (p.Glu22379Lys) | COSMIC COSMIC COSMIC COSMIC |
2 | g.178532229_178532232delinsCCTT | CA1310518133 | TTN,TTN-AS1 | c.96679_96682delinsAAGG (p.Lys32227=) c.77764_77767delinsAAGG (p.Lys25922=) c.77563_77566delinsAAGG (p.Lys25855=) c.77188_77191delinsAAGG (p.Lys25730=) c.104383_104386delinsAAGG (p.Lys34795=) c.99460_99463delinsAAGG (p.Lys33154=) n.446+8593_446+8596delinsCCTT n.220-3503_220-3500delinsCCTT c.103480_103483delinsAAGG (p.Lys34494=) c.77374_77377delinsAAGG (p.Lys25792=) c.77233_77236delinsAAGG (p.Lys25745=) c.103276_103279delinsAAGG (p.Lys34426=) c.98674_98677delinsAAGG (p.Lys32892=) c.98671_98674delinsAAGG (p.Lys32891=) c.95713_95716delinsAAGG (p.Lys31905=) c.77329_77332delinsAAGG (p.Lys25777=) c.98824_98827delinsAAGG (p.Lys32942=) c.98821_98824delinsAAGG (p.Lys32941=) c.98254_98257delinsAAGG (p.Lys32752=) c.95596_95599delinsAAGG (p.Lys31866=) c.95515_95518delinsAAGG (p.Lys31839=) c.77278_77281delinsAAGG (p.Lys25760=) c.67132_67135delinsAAGG (p.Lys22378=) | |
2 | g.178532230C>A | CA349411851 | TTN,TTN-AS1 | c.96681G>T (p.Lys32227Asn) c.77766G>T (p.Lys25922Asn) c.77565G>T (p.Lys25855Asn) c.77190G>T (p.Lys25730Asn) c.104385G>T (p.Lys34795Asn) c.99462G>T (p.Lys33154Asn) n.446+8594C>A n.220-3502C>A c.103482G>T (p.Lys34494Asn) c.77376G>T (p.Lys25792Asn) c.77235G>T (p.Lys25745Asn) c.103278G>T (p.Lys34426Asn) c.98676G>T (p.Lys32892Asn) c.98673G>T (p.Lys32891Asn) c.95715G>T (p.Lys31905Asn) c.77331G>T (p.Lys25777Asn) c.98826G>T (p.Lys32942Asn) c.98823G>T (p.Lys32941Asn) c.98256G>T (p.Lys32752Asn) c.95598G>T (p.Lys31866Asn) c.95517G>T (p.Lys31839Asn) c.77280G>T (p.Lys25760Asn) c.67134G>T (p.Lys22378Asn) | |
2 | g.178532230C= | CA1310518134 | TTN,TTN-AS1 | c.96681G= (p.Lys32227=) c.77766G= (p.Lys25922=) c.77565G= (p.Lys25855=) c.77190G= (p.Lys25730=) c.104385G= (p.Lys34795=) c.99462G= (p.Lys33154=) n.446+8594C= n.220-3502C= c.103482G= (p.Lys34494=) c.77376G= (p.Lys25792=) c.77235G= (p.Lys25745=) c.103278G= (p.Lys34426=) c.98676G= (p.Lys32892=) c.98673G= (p.Lys32891=) c.95715G= (p.Lys31905=) c.77331G= (p.Lys25777=) c.98826G= (p.Lys32942=) c.98823G= (p.Lys32941=) c.98256G= (p.Lys32752=) c.95598G= (p.Lys31866=) c.95517G= (p.Lys31839=) c.77280G= (p.Lys25760=) c.67134G= (p.Lys22378=) | |
2 | g.178532230C>G | CA349411852 | TTN,TTN-AS1 | c.96681G>C (p.Lys32227Asn) c.77766G>C (p.Lys25922Asn) c.77565G>C (p.Lys25855Asn) c.77190G>C (p.Lys25730Asn) c.104385G>C (p.Lys34795Asn) c.99462G>C (p.Lys33154Asn) n.446+8594C>G n.220-3502C>G c.103482G>C (p.Lys34494Asn) c.77376G>C (p.Lys25792Asn) c.77235G>C (p.Lys25745Asn) c.103278G>C (p.Lys34426Asn) c.98676G>C (p.Lys32892Asn) c.98673G>C (p.Lys32891Asn) c.95715G>C (p.Lys31905Asn) c.77331G>C (p.Lys25777Asn) c.98826G>C (p.Lys32942Asn) c.98823G>C (p.Lys32941Asn) c.98256G>C (p.Lys32752Asn) c.95598G>C (p.Lys31866Asn) c.95517G>C (p.Lys31839Asn) c.77280G>C (p.Lys25760Asn) c.67134G>C (p.Lys22378Asn) | |
2 | g.178532230C>T | CA141670 | TTN,TTN-AS1 | c.96681G>A (p.Lys32227=) c.77766G>A (p.Lys25922=) c.77565G>A (p.Lys25855=) c.77190G>A (p.Lys25730=) c.104385G>A (p.Lys34795=) c.99462G>A (p.Lys33154=) n.446+8594C>T n.220-3502C>T c.103482G>A (p.Lys34494=) c.77376G>A (p.Lys25792=) c.77235G>A (p.Lys25745=) c.103278G>A (p.Lys34426=) c.98676G>A (p.Lys32892=) c.98673G>A (p.Lys32891=) c.95715G>A (p.Lys31905=) c.77331G>A (p.Lys25777=) c.98826G>A (p.Lys32942=) c.98823G>A (p.Lys32941=) c.98256G>A (p.Lys32752=) c.95598G>A (p.Lys31866=) c.95517G>A (p.Lys31839=) c.77280G>A (p.Lys25760=) c.67134G>A (p.Lys22378=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178532230_178532232del | CA1039708707 | TTN,TTN-AS1 | c.96679_96681del (p.Lys32227del) c.77764_77766del (p.Lys25922del) c.77563_77565del (p.Lys25855del) c.77188_77190del (p.Lys25730del) c.104383_104385del (p.Lys34795del) c.99460_99462del (p.Lys33154del) n.446+8594_446+8596del n.220-3502_220-3500del c.103480_103482del (p.Lys34494del) c.77374_77376del (p.Lys25792del) c.77233_77235del (p.Lys25745del) c.103276_103278del (p.Lys34426del) c.98674_98676del (p.Lys32892del) c.98671_98673del (p.Lys32891del) c.95713_95715del (p.Lys31905del) c.77329_77331del (p.Lys25777del) c.98824_98826del (p.Lys32942del) c.98821_98823del (p.Lys32941del) c.98254_98256del (p.Lys32752del) c.95596_95598del (p.Lys31866del) c.95515_95517del (p.Lys31839del) c.77278_77280del (p.Lys25760del) c.67132_67134del (p.Lys22378del) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178532231T>A | CA349411853 | TTN,TTN-AS1 | c.96680A>T (p.Lys32227Met) c.77765A>T (p.Lys25922Met) c.77564A>T (p.Lys25855Met) c.77189A>T (p.Lys25730Met) c.104384A>T (p.Lys34795Met) c.99461A>T (p.Lys33154Met) n.446+8595T>A n.220-3501T>A c.103481A>T (p.Lys34494Met) c.77375A>T (p.Lys25792Met) c.77234A>T (p.Lys25745Met) c.103277A>T (p.Lys34426Met) c.98675A>T (p.Lys32892Met) c.98672A>T (p.Lys32891Met) c.95714A>T (p.Lys31905Met) c.77330A>T (p.Lys25777Met) c.98825A>T (p.Lys32942Met) c.98822A>T (p.Lys32941Met) c.98255A>T (p.Lys32752Met) c.95597A>T (p.Lys31866Met) c.95516A>T (p.Lys31839Met) c.77279A>T (p.Lys25760Met) c.67133A>T (p.Lys22378Met) | |
2 | g.178532231T>C | CA349411854 | TTN,TTN-AS1 | c.96680A>G (p.Lys32227Arg) c.77765A>G (p.Lys25922Arg) c.77564A>G (p.Lys25855Arg) c.77189A>G (p.Lys25730Arg) c.104384A>G (p.Lys34795Arg) c.99461A>G (p.Lys33154Arg) n.446+8595T>C n.220-3501T>C c.103481A>G (p.Lys34494Arg) c.77375A>G (p.Lys25792Arg) c.77234A>G (p.Lys25745Arg) c.103277A>G (p.Lys34426Arg) c.98675A>G (p.Lys32892Arg) c.98672A>G (p.Lys32891Arg) c.95714A>G (p.Lys31905Arg) c.77330A>G (p.Lys25777Arg) c.98825A>G (p.Lys32942Arg) c.98822A>G (p.Lys32941Arg) c.98255A>G (p.Lys32752Arg) c.95597A>G (p.Lys31866Arg) c.95516A>G (p.Lys31839Arg) c.77279A>G (p.Lys25760Arg) c.67133A>G (p.Lys22378Arg) | ClinVar dbSNP gnomAD v4 |
2 | g.178532231T>G | CA349411855 | TTN,TTN-AS1 | c.96680A>C (p.Lys32227Thr) c.77765A>C (p.Lys25922Thr) c.77564A>C (p.Lys25855Thr) c.77189A>C (p.Lys25730Thr) c.104384A>C (p.Lys34795Thr) c.99461A>C (p.Lys33154Thr) n.446+8595T>G n.220-3501T>G c.103481A>C (p.Lys34494Thr) c.77375A>C (p.Lys25792Thr) c.77234A>C (p.Lys25745Thr) c.103277A>C (p.Lys34426Thr) c.98675A>C (p.Lys32892Thr) c.98672A>C (p.Lys32891Thr) c.95714A>C (p.Lys31905Thr) c.77330A>C (p.Lys25777Thr) c.98825A>C (p.Lys32942Thr) c.98822A>C (p.Lys32941Thr) c.98255A>C (p.Lys32752Thr) c.95597A>C (p.Lys31866Thr) c.95516A>C (p.Lys31839Thr) c.77279A>C (p.Lys25760Thr) c.67133A>C (p.Lys22378Thr) | |
2 | g.178532231T= | CA1310518135 | TTN,TTN-AS1 | c.96680A= (p.Lys32227=) c.77765A= (p.Lys25922=) c.77564A= (p.Lys25855=) c.77189A= (p.Lys25730=) c.104384A= (p.Lys34795=) c.99461A= (p.Lys33154=) n.446+8595T= n.220-3501T= c.103481A= (p.Lys34494=) c.77375A= (p.Lys25792=) c.77234A= (p.Lys25745=) c.103277A= (p.Lys34426=) c.98675A= (p.Lys32892=) c.98672A= (p.Lys32891=) c.95714A= (p.Lys31905=) c.77330A= (p.Lys25777=) c.98825A= (p.Lys32942=) c.98822A= (p.Lys32941=) c.98255A= (p.Lys32752=) c.95597A= (p.Lys31866=) c.95516A= (p.Lys31839=) c.77279A= (p.Lys25760=) c.67133A= (p.Lys22378=) | |
2 | g.178532232T>A | CA349411856 | TTN,TTN-AS1 | c.96679A>T (p.Lys32227Ter) c.77764A>T (p.Lys25922Ter) c.77563A>T (p.Lys25855Ter) c.77188A>T (p.Lys25730Ter) c.104383A>T (p.Lys34795Ter) c.99460A>T (p.Lys33154Ter) n.446+8596T>A n.220-3500T>A c.103480A>T (p.Lys34494Ter) c.77374A>T (p.Lys25792Ter) c.77233A>T (p.Lys25745Ter) c.103276A>T (p.Lys34426Ter) c.98674A>T (p.Lys32892Ter) c.98671A>T (p.Lys32891Ter) c.95713A>T (p.Lys31905Ter) c.77329A>T (p.Lys25777Ter) c.98824A>T (p.Lys32942Ter) c.98821A>T (p.Lys32941Ter) c.98254A>T (p.Lys32752Ter) c.95596A>T (p.Lys31866Ter) c.95515A>T (p.Lys31839Ter) c.77278A>T (p.Lys25760Ter) c.67132A>T (p.Lys22378Ter) | |
2 | g.178532232T>C | CA349411858 | TTN,TTN-AS1 | c.96679A>G (p.Lys32227Glu) c.77764A>G (p.Lys25922Glu) c.77563A>G (p.Lys25855Glu) c.77188A>G (p.Lys25730Glu) c.104383A>G (p.Lys34795Glu) c.99460A>G (p.Lys33154Glu) n.446+8596T>C n.220-3500T>C c.103480A>G (p.Lys34494Glu) c.77374A>G (p.Lys25792Glu) c.77233A>G (p.Lys25745Glu) c.103276A>G (p.Lys34426Glu) c.98674A>G (p.Lys32892Glu) c.98671A>G (p.Lys32891Glu) c.95713A>G (p.Lys31905Glu) c.77329A>G (p.Lys25777Glu) c.98824A>G (p.Lys32942Glu) c.98821A>G (p.Lys32941Glu) c.98254A>G (p.Lys32752Glu) c.95596A>G (p.Lys31866Glu) c.95515A>G (p.Lys31839Glu) c.77278A>G (p.Lys25760Glu) c.67132A>G (p.Lys22378Glu) | |
2 | g.178532232T>G | CA349411857 | TTN,TTN-AS1 | c.96679A>C (p.Lys32227Gln) c.77764A>C (p.Lys25922Gln) c.77563A>C (p.Lys25855Gln) c.77188A>C (p.Lys25730Gln) c.104383A>C (p.Lys34795Gln) c.99460A>C (p.Lys33154Gln) n.446+8596T>G n.220-3500T>G c.103480A>C (p.Lys34494Gln) c.77374A>C (p.Lys25792Gln) c.77233A>C (p.Lys25745Gln) c.103276A>C (p.Lys34426Gln) c.98674A>C (p.Lys32892Gln) c.98671A>C (p.Lys32891Gln) c.95713A>C (p.Lys31905Gln) c.77329A>C (p.Lys25777Gln) c.98824A>C (p.Lys32942Gln) c.98821A>C (p.Lys32941Gln) c.98254A>C (p.Lys32752Gln) c.95596A>C (p.Lys31866Gln) c.95515A>C (p.Lys31839Gln) c.77278A>C (p.Lys25760Gln) c.67132A>C (p.Lys22378Gln) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178532232T= | CA1310518136 | TTN,TTN-AS1 | c.96679A= (p.Lys32227=) c.77764A= (p.Lys25922=) c.77563A= (p.Lys25855=) c.77188A= (p.Lys25730=) c.104383A= (p.Lys34795=) c.99460A= (p.Lys33154=) n.446+8596T= n.220-3500T= c.103480A= (p.Lys34494=) c.77374A= (p.Lys25792=) c.77233A= (p.Lys25745=) c.103276A= (p.Lys34426=) c.98674A= (p.Lys32892=) c.98671A= (p.Lys32891=) c.95713A= (p.Lys31905=) c.77329A= (p.Lys25777=) c.98824A= (p.Lys32942=) c.98821A= (p.Lys32941=) c.98254A= (p.Lys32752=) c.95596A= (p.Lys31866=) c.95515A= (p.Lys31839=) c.77278A= (p.Lys25760=) c.67132A= (p.Lys22378=) | |
2 | g.178532233T>A | CA430235943 | TTN,TTN-AS1 | c.96678A>T (p.Ser32226=) c.77763A>T (p.Ser25921=) c.77562A>T (p.Ser25854=) c.77187A>T (p.Ser25729=) c.104382A>T (p.Ser34794=) c.99459A>T (p.Ser33153=) n.446+8597T>A n.220-3499T>A c.103479A>T (p.Ser34493=) c.77373A>T (p.Ser25791=) c.77232A>T (p.Ser25744=) c.103275A>T (p.Ser34425=) c.98673A>T (p.Ser32891=) c.98670A>T (p.Ser32890=) c.95712A>T (p.Ser31904=) c.77328A>T (p.Ser25776=) c.98823A>T (p.Ser32941=) c.98820A>T (p.Ser32940=) c.98253A>T (p.Ser32751=) c.95595A>T (p.Ser31865=) c.95514A>T (p.Ser31838=) c.77277A>T (p.Ser25759=) c.67131A>T (p.Ser22377=) | |
2 | g.178532233T>C | CA430235944 | TTN,TTN-AS1 | c.96678A>G (p.Ser32226=) c.77763A>G (p.Ser25921=) c.77562A>G (p.Ser25854=) c.77187A>G (p.Ser25729=) c.104382A>G (p.Ser34794=) c.99459A>G (p.Ser33153=) n.446+8597T>C n.220-3499T>C c.103479A>G (p.Ser34493=) c.77373A>G (p.Ser25791=) c.77232A>G (p.Ser25744=) c.103275A>G (p.Ser34425=) c.98673A>G (p.Ser32891=) c.98670A>G (p.Ser32890=) c.95712A>G (p.Ser31904=) c.77328A>G (p.Ser25776=) c.98823A>G (p.Ser32941=) c.98820A>G (p.Ser32940=) c.98253A>G (p.Ser32751=) c.95595A>G (p.Ser31865=) c.95514A>G (p.Ser31838=) c.77277A>G (p.Ser25759=) c.67131A>G (p.Ser22377=) | ClinVar dbSNP |
2 | g.178532233T>G | CA430235945 | TTN,TTN-AS1 | c.96678A>C (p.Ser32226=) c.77763A>C (p.Ser25921=) c.77562A>C (p.Ser25854=) c.77187A>C (p.Ser25729=) c.104382A>C (p.Ser34794=) c.99459A>C (p.Ser33153=) n.446+8597T>G n.220-3499T>G c.103479A>C (p.Ser34493=) c.77373A>C (p.Ser25791=) c.77232A>C (p.Ser25744=) c.103275A>C (p.Ser34425=) c.98673A>C (p.Ser32891=) c.98670A>C (p.Ser32890=) c.95712A>C (p.Ser31904=) c.77328A>C (p.Ser25776=) c.98823A>C (p.Ser32941=) c.98820A>C (p.Ser32940=) c.98253A>C (p.Ser32751=) c.95595A>C (p.Ser31865=) c.95514A>C (p.Ser31838=) c.77277A>C (p.Ser25759=) c.67131A>C (p.Ser22377=) | |
2 | g.178532233T= | CA1310518137 | TTN,TTN-AS1 | c.96678A= (p.Ser32226=) c.77763A= (p.Ser25921=) c.77562A= (p.Ser25854=) c.77187A= (p.Ser25729=) c.104382A= (p.Ser34794=) c.99459A= (p.Ser33153=) n.446+8597T= n.220-3499T= c.103479A= (p.Ser34493=) c.77373A= (p.Ser25791=) c.77232A= (p.Ser25744=) c.103275A= (p.Ser34425=) c.98673A= (p.Ser32891=) c.98670A= (p.Ser32890=) c.95712A= (p.Ser31904=) c.77328A= (p.Ser25776=) c.98823A= (p.Ser32941=) c.98820A= (p.Ser32940=) c.98253A= (p.Ser32751=) c.95595A= (p.Ser31865=) c.95514A= (p.Ser31838=) c.77277A= (p.Ser25759=) c.67131A= (p.Ser22377=) | |
2 | g.178532234G>A | CA349411859 | TTN,TTN-AS1 | c.96677C>T (p.Ser32226Leu) c.77762C>T (p.Ser25921Leu) c.77561C>T (p.Ser25854Leu) c.77186C>T (p.Ser25729Leu) c.104381C>T (p.Ser34794Leu) c.99458C>T (p.Ser33153Leu) n.446+8598G>A n.220-3498G>A c.103478C>T (p.Ser34493Leu) c.77372C>T (p.Ser25791Leu) c.77231C>T (p.Ser25744Leu) c.103274C>T (p.Ser34425Leu) c.98672C>T (p.Ser32891Leu) c.98669C>T (p.Ser32890Leu) c.95711C>T (p.Ser31904Leu) c.77327C>T (p.Ser25776Leu) c.98822C>T (p.Ser32941Leu) c.98819C>T (p.Ser32940Leu) c.98252C>T (p.Ser32751Leu) c.95594C>T (p.Ser31865Leu) c.95513C>T (p.Ser31838Leu) c.77276C>T (p.Ser25759Leu) c.67130C>T (p.Ser22377Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.178532234G>C | CA349411860 | TTN,TTN-AS1 | c.96677C>G (p.Ser32226Ter) c.77762C>G (p.Ser25921Ter) c.77561C>G (p.Ser25854Ter) c.77186C>G (p.Ser25729Ter) c.104381C>G (p.Ser34794Ter) c.99458C>G (p.Ser33153Ter) n.446+8598G>C n.220-3498G>C c.103478C>G (p.Ser34493Ter) c.77372C>G (p.Ser25791Ter) c.77231C>G (p.Ser25744Ter) c.103274C>G (p.Ser34425Ter) c.98672C>G (p.Ser32891Ter) c.98669C>G (p.Ser32890Ter) c.95711C>G (p.Ser31904Ter) c.77327C>G (p.Ser25776Ter) c.98822C>G (p.Ser32941Ter) c.98819C>G (p.Ser32940Ter) c.98252C>G (p.Ser32751Ter) c.95594C>G (p.Ser31865Ter) c.95513C>G (p.Ser31838Ter) c.77276C>G (p.Ser25759Ter) c.67130C>G (p.Ser22377Ter) | |
2 | g.178532234G= | CA1310518138 | TTN,TTN-AS1 | c.96677C= (p.Ser32226=) c.77762C= (p.Ser25921=) c.77561C= (p.Ser25854=) c.77186C= (p.Ser25729=) c.104381C= (p.Ser34794=) c.99458C= (p.Ser33153=) n.446+8598G= n.220-3498G= c.103478C= (p.Ser34493=) c.77372C= (p.Ser25791=) c.77231C= (p.Ser25744=) c.103274C= (p.Ser34425=) c.98672C= (p.Ser32891=) c.98669C= (p.Ser32890=) c.95711C= (p.Ser31904=) c.77327C= (p.Ser25776=) c.98822C= (p.Ser32941=) c.98819C= (p.Ser32940=) c.98252C= (p.Ser32751=) c.95594C= (p.Ser31865=) c.95513C= (p.Ser31838=) c.77276C= (p.Ser25759=) c.67130C= (p.Ser22377=) | |
2 | g.178532234G>T | CA349411861 | TTN,TTN-AS1 | c.96677C>A (p.Ser32226Ter) c.77762C>A (p.Ser25921Ter) c.77561C>A (p.Ser25854Ter) c.77186C>A (p.Ser25729Ter) c.104381C>A (p.Ser34794Ter) c.99458C>A (p.Ser33153Ter) n.446+8598G>T n.220-3498G>T c.103478C>A (p.Ser34493Ter) c.77372C>A (p.Ser25791Ter) c.77231C>A (p.Ser25744Ter) c.103274C>A (p.Ser34425Ter) c.98672C>A (p.Ser32891Ter) c.98669C>A (p.Ser32890Ter) c.95711C>A (p.Ser31904Ter) c.77327C>A (p.Ser25776Ter) c.98822C>A (p.Ser32941Ter) c.98819C>A (p.Ser32940Ter) c.98252C>A (p.Ser32751Ter) c.95594C>A (p.Ser31865Ter) c.95513C>A (p.Ser31838Ter) c.77276C>A (p.Ser25759Ter) c.67130C>A (p.Ser22377Ter) | |
2 | g.178532235A>C | CA349411862 | TTN,TTN-AS1 | c.96676T>G (p.Ser32226Ala) c.77761T>G (p.Ser25921Ala) c.77560T>G (p.Ser25854Ala) c.77185T>G (p.Ser25729Ala) c.104380T>G (p.Ser34794Ala) c.99457T>G (p.Ser33153Ala) n.446+8599A>C n.220-3497A>C c.103477T>G (p.Ser34493Ala) c.77371T>G (p.Ser25791Ala) c.77230T>G (p.Ser25744Ala) c.103273T>G (p.Ser34425Ala) c.98671T>G (p.Ser32891Ala) c.98668T>G (p.Ser32890Ala) c.95710T>G (p.Ser31904Ala) c.77326T>G (p.Ser25776Ala) c.98821T>G (p.Ser32941Ala) c.98818T>G (p.Ser32940Ala) c.98251T>G (p.Ser32751Ala) c.95593T>G (p.Ser31865Ala) c.95512T>G (p.Ser31838Ala) c.77275T>G (p.Ser25759Ala) c.67129T>G (p.Ser22377Ala) | |
2 | g.178532235A>G | CA349411863 | TTN,TTN-AS1 | c.96676T>C (p.Ser32226Pro) c.77761T>C (p.Ser25921Pro) c.77560T>C (p.Ser25854Pro) c.77185T>C (p.Ser25729Pro) c.104380T>C (p.Ser34794Pro) c.99457T>C (p.Ser33153Pro) n.446+8599A>G n.220-3497A>G c.103477T>C (p.Ser34493Pro) c.77371T>C (p.Ser25791Pro) c.77230T>C (p.Ser25744Pro) c.103273T>C (p.Ser34425Pro) c.98671T>C (p.Ser32891Pro) c.98668T>C (p.Ser32890Pro) c.95710T>C (p.Ser31904Pro) c.77326T>C (p.Ser25776Pro) c.98821T>C (p.Ser32941Pro) c.98818T>C (p.Ser32940Pro) c.98251T>C (p.Ser32751Pro) c.95593T>C (p.Ser31865Pro) c.95512T>C (p.Ser31838Pro) c.77275T>C (p.Ser25759Pro) c.67129T>C (p.Ser22377Pro) | |
2 | g.178532235A>T | CA349411864 | TTN,TTN-AS1 | c.96676T>A (p.Ser32226Thr) c.77761T>A (p.Ser25921Thr) c.77560T>A (p.Ser25854Thr) c.77185T>A (p.Ser25729Thr) c.104380T>A (p.Ser34794Thr) c.99457T>A (p.Ser33153Thr) n.446+8599A>T n.220-3497A>T c.103477T>A (p.Ser34493Thr) c.77371T>A (p.Ser25791Thr) c.77230T>A (p.Ser25744Thr) c.103273T>A (p.Ser34425Thr) c.98671T>A (p.Ser32891Thr) c.98668T>A (p.Ser32890Thr) c.95710T>A (p.Ser31904Thr) c.77326T>A (p.Ser25776Thr) c.98821T>A (p.Ser32941Thr) c.98818T>A (p.Ser32940Thr) c.98251T>A (p.Ser32751Thr) c.95593T>A (p.Ser31865Thr) c.95512T>A (p.Ser31838Thr) c.77275T>A (p.Ser25759Thr) c.67129T>A (p.Ser22377Thr) | |
2 | g.178532236C>A | CA349411865 | TTN,TTN-AS1 | c.96675G>T (p.Met32225Ile) c.77760G>T (p.Met25920Ile) c.77559G>T (p.Met25853Ile) c.77184G>T (p.Met25728Ile) c.104379G>T (p.Met34793Ile) c.99456G>T (p.Met33152Ile) n.446+8600C>A n.220-3496C>A c.103476G>T (p.Met34492Ile) c.77370G>T (p.Met25790Ile) c.77229G>T (p.Met25743Ile) c.103272G>T (p.Met34424Ile) c.98670G>T (p.Met32890Ile) c.98667G>T (p.Met32889Ile) c.95709G>T (p.Met31903Ile) c.77325G>T (p.Met25775Ile) c.98820G>T (p.Met32940Ile) c.98817G>T (p.Met32939Ile) c.98250G>T (p.Met32750Ile) c.95592G>T (p.Met31864Ile) c.95511G>T (p.Met31837Ile) c.77274G>T (p.Met25758Ile) c.67128G>T (p.Met22376Ile) | |
2 | g.178532236C>G | CA349411866 | TTN,TTN-AS1 | c.96675G>C (p.Met32225Ile) c.77760G>C (p.Met25920Ile) c.77559G>C (p.Met25853Ile) c.77184G>C (p.Met25728Ile) c.104379G>C (p.Met34793Ile) c.99456G>C (p.Met33152Ile) n.446+8600C>G n.220-3496C>G c.103476G>C (p.Met34492Ile) c.77370G>C (p.Met25790Ile) c.77229G>C (p.Met25743Ile) c.103272G>C (p.Met34424Ile) c.98670G>C (p.Met32890Ile) c.98667G>C (p.Met32889Ile) c.95709G>C (p.Met31903Ile) c.77325G>C (p.Met25775Ile) c.98820G>C (p.Met32940Ile) c.98817G>C (p.Met32939Ile) c.98250G>C (p.Met32750Ile) c.95592G>C (p.Met31864Ile) c.95511G>C (p.Met31837Ile) c.77274G>C (p.Met25758Ile) c.67128G>C (p.Met22376Ile) | |
2 | g.178532236C>T | CA349411867 | TTN,TTN-AS1 | c.96675G>A (p.Met32225Ile) c.77760G>A (p.Met25920Ile) c.77559G>A (p.Met25853Ile) c.77184G>A (p.Met25728Ile) c.104379G>A (p.Met34793Ile) c.99456G>A (p.Met33152Ile) n.446+8600C>T n.220-3496C>T c.103476G>A (p.Met34492Ile) c.77370G>A (p.Met25790Ile) c.77229G>A (p.Met25743Ile) c.103272G>A (p.Met34424Ile) c.98670G>A (p.Met32890Ile) c.98667G>A (p.Met32889Ile) c.95709G>A (p.Met31903Ile) c.77325G>A (p.Met25775Ile) c.98820G>A (p.Met32940Ile) c.98817G>A (p.Met32939Ile) c.98250G>A (p.Met32750Ile) c.95592G>A (p.Met31864Ile) c.95511G>A (p.Met31837Ile) c.77274G>A (p.Met25758Ile) c.67128G>A (p.Met22376Ile) | |
2 | g.178532237A= | CA1310518139 | TTN,TTN-AS1 | c.96674T= (p.Met32225=) c.77759T= (p.Met25920=) c.77558T= (p.Met25853=) c.77183T= (p.Met25728=) c.104378T= (p.Met34793=) c.99455T= (p.Met33152=) n.446+8601A= n.220-3495A= c.103475T= (p.Met34492=) c.77369T= (p.Met25790=) c.77228T= (p.Met25743=) c.103271T= (p.Met34424=) c.98669T= (p.Met32890=) c.98666T= (p.Met32889=) c.95708T= (p.Met31903=) c.77324T= (p.Met25775=) c.98819T= (p.Met32940=) c.98816T= (p.Met32939=) c.98249T= (p.Met32750=) c.95591T= (p.Met31864=) c.95510T= (p.Met31837=) c.77273T= (p.Met25758=) c.67127T= (p.Met22376=) | |
2 | g.178532237A>C | CA349411868 | TTN,TTN-AS1 | c.96674T>G (p.Met32225Arg) c.77759T>G (p.Met25920Arg) c.77558T>G (p.Met25853Arg) c.77183T>G (p.Met25728Arg) c.104378T>G (p.Met34793Arg) c.99455T>G (p.Met33152Arg) n.446+8601A>C n.220-3495A>C c.103475T>G (p.Met34492Arg) c.77369T>G (p.Met25790Arg) c.77228T>G (p.Met25743Arg) c.103271T>G (p.Met34424Arg) c.98669T>G (p.Met32890Arg) c.98666T>G (p.Met32889Arg) c.95708T>G (p.Met31903Arg) c.77324T>G (p.Met25775Arg) c.98819T>G (p.Met32940Arg) c.98816T>G (p.Met32939Arg) c.98249T>G (p.Met32750Arg) c.95591T>G (p.Met31864Arg) c.95510T>G (p.Met31837Arg) c.77273T>G (p.Met25758Arg) c.67127T>G (p.Met22376Arg) | gnomAD v4 |
2 | g.178532237A>G | CA1985432 | TTN,TTN-AS1 | c.96674T>C (p.Met32225Thr) c.77759T>C (p.Met25920Thr) c.77558T>C (p.Met25853Thr) c.77183T>C (p.Met25728Thr) c.104378T>C (p.Met34793Thr) c.99455T>C (p.Met33152Thr) n.446+8601A>G n.220-3495A>G c.103475T>C (p.Met34492Thr) c.77369T>C (p.Met25790Thr) c.77228T>C (p.Met25743Thr) c.103271T>C (p.Met34424Thr) c.98669T>C (p.Met32890Thr) c.98666T>C (p.Met32889Thr) c.95708T>C (p.Met31903Thr) c.77324T>C (p.Met25775Thr) c.98819T>C (p.Met32940Thr) c.98816T>C (p.Met32939Thr) c.98249T>C (p.Met32750Thr) c.95591T>C (p.Met31864Thr) c.95510T>C (p.Met31837Thr) c.77273T>C (p.Met25758Thr) c.67127T>C (p.Met22376Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178532237A>T | CA349411869 | TTN,TTN-AS1 | c.96674T>A (p.Met32225Lys) c.77759T>A (p.Met25920Lys) c.77558T>A (p.Met25853Lys) c.77183T>A (p.Met25728Lys) c.104378T>A (p.Met34793Lys) c.99455T>A (p.Met33152Lys) n.446+8601A>T n.220-3495A>T c.103475T>A (p.Met34492Lys) c.77369T>A (p.Met25790Lys) c.77228T>A (p.Met25743Lys) c.103271T>A (p.Met34424Lys) c.98669T>A (p.Met32890Lys) c.98666T>A (p.Met32889Lys) c.95708T>A (p.Met31903Lys) c.77324T>A (p.Met25775Lys) c.98819T>A (p.Met32940Lys) c.98816T>A (p.Met32939Lys) c.98249T>A (p.Met32750Lys) c.95591T>A (p.Met31864Lys) c.95510T>A (p.Met31837Lys) c.77273T>A (p.Met25758Lys) c.67127T>A (p.Met22376Lys) | |
2 | g.178532238T>A | CA349411870 | TTN,TTN-AS1 | c.96673A>T (p.Met32225Leu) c.77758A>T (p.Met25920Leu) c.77557A>T (p.Met25853Leu) c.77182A>T (p.Met25728Leu) c.104377A>T (p.Met34793Leu) c.99454A>T (p.Met33152Leu) n.446+8602T>A n.220-3494T>A c.103474A>T (p.Met34492Leu) c.77368A>T (p.Met25790Leu) c.77227A>T (p.Met25743Leu) c.103270A>T (p.Met34424Leu) c.98668A>T (p.Met32890Leu) c.98665A>T (p.Met32889Leu) c.95707A>T (p.Met31903Leu) c.77323A>T (p.Met25775Leu) c.98818A>T (p.Met32940Leu) c.98815A>T (p.Met32939Leu) c.98248A>T (p.Met32750Leu) c.95590A>T (p.Met31864Leu) c.95509A>T (p.Met31837Leu) c.77272A>T (p.Met25758Leu) c.67126A>T (p.Met22376Leu) | |
2 | g.178532238T>C | CA349411871 | TTN,TTN-AS1 | c.96673A>G (p.Met32225Val) c.77758A>G (p.Met25920Val) c.77557A>G (p.Met25853Val) c.77182A>G (p.Met25728Val) c.104377A>G (p.Met34793Val) c.99454A>G (p.Met33152Val) n.446+8602T>C n.220-3494T>C c.103474A>G (p.Met34492Val) c.77368A>G (p.Met25790Val) c.77227A>G (p.Met25743Val) c.103270A>G (p.Met34424Val) c.98668A>G (p.Met32890Val) c.98665A>G (p.Met32889Val) c.95707A>G (p.Met31903Val) c.77323A>G (p.Met25775Val) c.98818A>G (p.Met32940Val) c.98815A>G (p.Met32939Val) c.98248A>G (p.Met32750Val) c.95590A>G (p.Met31864Val) c.95509A>G (p.Met31837Val) c.77272A>G (p.Met25758Val) c.67126A>G (p.Met22376Val) | gnomAD v4 |
2 | g.178532238T>G | CA284286 | TTN,TTN-AS1 | c.96673A>C (p.Met32225Leu) c.77758A>C (p.Met25920Leu) c.77557A>C (p.Met25853Leu) c.77182A>C (p.Met25728Leu) c.104377A>C (p.Met34793Leu) c.99454A>C (p.Met33152Leu) n.446+8602T>G n.220-3494T>G c.103474A>C (p.Met34492Leu) c.77368A>C (p.Met25790Leu) c.77227A>C (p.Met25743Leu) c.103270A>C (p.Met34424Leu) c.98668A>C (p.Met32890Leu) c.98665A>C (p.Met32889Leu) c.95707A>C (p.Met31903Leu) c.77323A>C (p.Met25775Leu) c.98818A>C (p.Met32940Leu) c.98815A>C (p.Met32939Leu) c.98248A>C (p.Met32750Leu) c.95590A>C (p.Met31864Leu) c.95509A>C (p.Met31837Leu) c.77272A>C (p.Met25758Leu) c.67126A>C (p.Met22376Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178532238T= | CA1310518140 | TTN,TTN-AS1 | c.96673A= (p.Met32225=) c.77758A= (p.Met25920=) c.77557A= (p.Met25853=) c.77182A= (p.Met25728=) c.104377A= (p.Met34793=) c.99454A= (p.Met33152=) n.446+8602T= n.220-3494T= c.103474A= (p.Met34492=) c.77368A= (p.Met25790=) c.77227A= (p.Met25743=) c.103270A= (p.Met34424=) c.98668A= (p.Met32890=) c.98665A= (p.Met32889=) c.95707A= (p.Met31903=) c.77323A= (p.Met25775=) c.98818A= (p.Met32940=) c.98815A= (p.Met32939=) c.98248A= (p.Met32750=) c.95590A= (p.Met31864=) c.95509A= (p.Met31837=) c.77272A= (p.Met25758=) c.67126A= (p.Met22376=) | |
2 | g.178532239G>A | CA430235946 | TTN,TTN-AS1 | c.96672C>T (p.Phe32224=) c.77757C>T (p.Phe25919=) c.77556C>T (p.Phe25852=) c.77181C>T (p.Phe25727=) c.104376C>T (p.Phe34792=) c.99453C>T (p.Phe33151=) n.446+8603G>A n.220-3493G>A c.103473C>T (p.Phe34491=) c.77367C>T (p.Phe25789=) c.77226C>T (p.Phe25742=) c.103269C>T (p.Phe34423=) c.98667C>T (p.Phe32889=) c.98664C>T (p.Phe32888=) c.95706C>T (p.Phe31902=) c.77322C>T (p.Phe25774=) c.98817C>T (p.Phe32939=) c.98814C>T (p.Phe32938=) c.98247C>T (p.Phe32749=) c.95589C>T (p.Phe31863=) c.95508C>T (p.Phe31836=) c.77271C>T (p.Phe25757=) c.67125C>T (p.Phe22375=) | COSMIC COSMIC COSMIC COSMIC |
2 | g.178532239G>C | CA349411872 | TTN,TTN-AS1 | c.96672C>G (p.Phe32224Leu) c.77757C>G (p.Phe25919Leu) c.77556C>G (p.Phe25852Leu) c.77181C>G (p.Phe25727Leu) c.104376C>G (p.Phe34792Leu) c.99453C>G (p.Phe33151Leu) n.446+8603G>C n.220-3493G>C c.103473C>G (p.Phe34491Leu) c.77367C>G (p.Phe25789Leu) c.77226C>G (p.Phe25742Leu) c.103269C>G (p.Phe34423Leu) c.98667C>G (p.Phe32889Leu) c.98664C>G (p.Phe32888Leu) c.95706C>G (p.Phe31902Leu) c.77322C>G (p.Phe25774Leu) c.98817C>G (p.Phe32939Leu) c.98814C>G (p.Phe32938Leu) c.98247C>G (p.Phe32749Leu) c.95589C>G (p.Phe31863Leu) c.95508C>G (p.Phe31836Leu) c.77271C>G (p.Phe25757Leu) c.67125C>G (p.Phe22375Leu) | gnomAD v4 |
2 | g.178532239G>T | CA349411873 | TTN,TTN-AS1 | c.96672C>A (p.Phe32224Leu) c.77757C>A (p.Phe25919Leu) c.77556C>A (p.Phe25852Leu) c.77181C>A (p.Phe25727Leu) c.104376C>A (p.Phe34792Leu) c.99453C>A (p.Phe33151Leu) n.446+8603G>T n.220-3493G>T c.103473C>A (p.Phe34491Leu) c.77367C>A (p.Phe25789Leu) c.77226C>A (p.Phe25742Leu) c.103269C>A (p.Phe34423Leu) c.98667C>A (p.Phe32889Leu) c.98664C>A (p.Phe32888Leu) c.95706C>A (p.Phe31902Leu) c.77322C>A (p.Phe25774Leu) c.98817C>A (p.Phe32939Leu) c.98814C>A (p.Phe32938Leu) c.98247C>A (p.Phe32749Leu) c.95589C>A (p.Phe31863Leu) c.95508C>A (p.Phe31836Leu) c.77271C>A (p.Phe25757Leu) c.67125C>A (p.Phe22375Leu) | COSMIC COSMIC COSMIC COSMIC |
2 | g.178532239_178532244delinsGAAGTC | CA1310518141 | TTN,TTN-AS1 | c.96667_96672delinsGACTTC (p.Asp32223=) c.77752_77757delinsGACTTC (p.Asp25918=) c.77551_77556delinsGACTTC (p.Asp25851=) c.77176_77181delinsGACTTC (p.Asp25726=) c.104371_104376delinsGACTTC (p.Asp34791=) c.99448_99453delinsGACTTC (p.Asp33150=) n.446+8603_446+8608delinsGAAGTC n.220-3493_220-3488delinsGAAGTC c.103468_103473delinsGACTTC (p.Asp34490=) c.77362_77367delinsGACTTC (p.Asp25788=) c.77221_77226delinsGACTTC (p.Asp25741=) c.103264_103269delinsGACTTC (p.Asp34422=) c.98662_98667delinsGACTTC (p.Asp32888=) c.98659_98664delinsGACTTC (p.Asp32887=) c.95701_95706delinsGACTTC (p.Asp31901=) c.77317_77322delinsGACTTC (p.Asp25773=) c.98812_98817delinsGACTTC (p.Asp32938=) c.98809_98814delinsGACTTC (p.Asp32937=) c.98242_98247delinsGACTTC (p.Asp32748=) c.95584_95589delinsGACTTC (p.Asp31862=) c.95503_95508delinsGACTTC (p.Asp31835=) c.77266_77271delinsGACTTC (p.Asp25756=) c.67120_67125delinsGACTTC (p.Asp22374=) | |
2 | g.178532240A>C | CA349411874 | TTN,TTN-AS1 | c.96671T>G (p.Phe32224Cys) c.77756T>G (p.Phe25919Cys) c.77555T>G (p.Phe25852Cys) c.77180T>G (p.Phe25727Cys) c.104375T>G (p.Phe34792Cys) c.99452T>G (p.Phe33151Cys) n.446+8604A>C n.220-3492A>C c.103472T>G (p.Phe34491Cys) c.77366T>G (p.Phe25789Cys) c.77225T>G (p.Phe25742Cys) c.103268T>G (p.Phe34423Cys) c.98666T>G (p.Phe32889Cys) c.98663T>G (p.Phe32888Cys) c.95705T>G (p.Phe31902Cys) c.77321T>G (p.Phe25774Cys) c.98816T>G (p.Phe32939Cys) c.98813T>G (p.Phe32938Cys) c.98246T>G (p.Phe32749Cys) c.95588T>G (p.Phe31863Cys) c.95507T>G (p.Phe31836Cys) c.77270T>G (p.Phe25757Cys) c.67124T>G (p.Phe22375Cys) | |
2 | g.178532240A>G | CA349411875 | TTN,TTN-AS1 | c.96671T>C (p.Phe32224Ser) c.77756T>C (p.Phe25919Ser) c.77555T>C (p.Phe25852Ser) c.77180T>C (p.Phe25727Ser) c.104375T>C (p.Phe34792Ser) c.99452T>C (p.Phe33151Ser) n.446+8604A>G n.220-3492A>G c.103472T>C (p.Phe34491Ser) c.77366T>C (p.Phe25789Ser) c.77225T>C (p.Phe25742Ser) c.103268T>C (p.Phe34423Ser) c.98666T>C (p.Phe32889Ser) c.98663T>C (p.Phe32888Ser) c.95705T>C (p.Phe31902Ser) c.77321T>C (p.Phe25774Ser) c.98816T>C (p.Phe32939Ser) c.98813T>C (p.Phe32938Ser) c.98246T>C (p.Phe32749Ser) c.95588T>C (p.Phe31863Ser) c.95507T>C (p.Phe31836Ser) c.77270T>C (p.Phe25757Ser) c.67124T>C (p.Phe22375Ser) | |
2 | g.178532240A>T | CA349411876 | TTN,TTN-AS1 | c.96671T>A (p.Phe32224Tyr) c.77756T>A (p.Phe25919Tyr) c.77555T>A (p.Phe25852Tyr) c.77180T>A (p.Phe25727Tyr) c.104375T>A (p.Phe34792Tyr) c.99452T>A (p.Phe33151Tyr) n.446+8604A>T n.220-3492A>T c.103472T>A (p.Phe34491Tyr) c.77366T>A (p.Phe25789Tyr) c.77225T>A (p.Phe25742Tyr) c.103268T>A (p.Phe34423Tyr) c.98666T>A (p.Phe32889Tyr) c.98663T>A (p.Phe32888Tyr) c.95705T>A (p.Phe31902Tyr) c.77321T>A (p.Phe25774Tyr) c.98816T>A (p.Phe32939Tyr) c.98813T>A (p.Phe32938Tyr) c.98246T>A (p.Phe32749Tyr) c.95588T>A (p.Phe31863Tyr) c.95507T>A (p.Phe31836Tyr) c.77270T>A (p.Phe25757Tyr) c.67124T>A (p.Phe22375Tyr) | |
2 | g.178532244_178532248del | CA761288186 | TTN,TTN-AS1 | c.96667_96671del (p.Asp32223HisfsTer8) c.77752_77756del (p.Asp25918HisfsTer8) c.77551_77555del (p.Asp25851HisfsTer8) c.77176_77180del (p.Asp25726HisfsTer8) c.104371_104375del (p.Asp34791HisfsTer8) c.99448_99452del (p.Asp33150HisfsTer8) n.446+8608_446+8612del n.220-3488_220-3484del c.103468_103472del (p.Asp34490HisfsTer8) c.77362_77366del (p.Asp25788HisfsTer8) c.77221_77225del (p.Asp25741HisfsTer8) c.103264_103268del (p.Asp34422HisfsTer8) c.98662_98666del (p.Asp32888HisfsTer8) c.98659_98663del (p.Asp32887HisfsTer8) c.95701_95705del (p.Asp31901HisfsTer8) c.77317_77321del (p.Asp25773HisfsTer8) c.98812_98816del (p.Asp32938HisfsTer8) c.98809_98813del (p.Asp32937HisfsTer8) c.98242_98246del (p.Asp32748HisfsTer8) c.95584_95588del (p.Asp31862HisfsTer8) c.95503_95507del (p.Asp31835HisfsTer8) c.77266_77270del (p.Asp25756HisfsTer8) c.67120_67124del (p.Asp22374HisfsTer8) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178532241A>C | CA349411879 | TTN,TTN-AS1 | c.96670T>G (p.Phe32224Val) c.77755T>G (p.Phe25919Val) c.77554T>G (p.Phe25852Val) c.77179T>G (p.Phe25727Val) c.104374T>G (p.Phe34792Val) c.99451T>G (p.Phe33151Val) n.446+8605A>C n.220-3491A>C c.103471T>G (p.Phe34491Val) c.77365T>G (p.Phe25789Val) c.77224T>G (p.Phe25742Val) c.103267T>G (p.Phe34423Val) c.98665T>G (p.Phe32889Val) c.98662T>G (p.Phe32888Val) c.95704T>G (p.Phe31902Val) c.77320T>G (p.Phe25774Val) c.98815T>G (p.Phe32939Val) c.98812T>G (p.Phe32938Val) c.98245T>G (p.Phe32749Val) c.95587T>G (p.Phe31863Val) c.95506T>G (p.Phe31836Val) c.77269T>G (p.Phe25757Val) c.67123T>G (p.Phe22375Val) | |
2 | g.178532241A>G | CA349411877 | TTN,TTN-AS1 | c.96670T>C (p.Phe32224Leu) c.77755T>C (p.Phe25919Leu) c.77554T>C (p.Phe25852Leu) c.77179T>C (p.Phe25727Leu) c.104374T>C (p.Phe34792Leu) c.99451T>C (p.Phe33151Leu) n.446+8605A>G n.220-3491A>G c.103471T>C (p.Phe34491Leu) c.77365T>C (p.Phe25789Leu) c.77224T>C (p.Phe25742Leu) c.103267T>C (p.Phe34423Leu) c.98665T>C (p.Phe32889Leu) c.98662T>C (p.Phe32888Leu) c.95704T>C (p.Phe31902Leu) c.77320T>C (p.Phe25774Leu) c.98815T>C (p.Phe32939Leu) c.98812T>C (p.Phe32938Leu) c.98245T>C (p.Phe32749Leu) c.95587T>C (p.Phe31863Leu) c.95506T>C (p.Phe31836Leu) c.77269T>C (p.Phe25757Leu) c.67123T>C (p.Phe22375Leu) | |
2 | g.178532241A>T | CA349411878 | TTN,TTN-AS1 | c.96670T>A (p.Phe32224Ile) c.77755T>A (p.Phe25919Ile) c.77554T>A (p.Phe25852Ile) c.77179T>A (p.Phe25727Ile) c.104374T>A (p.Phe34792Ile) c.99451T>A (p.Phe33151Ile) n.446+8605A>T n.220-3491A>T c.103471T>A (p.Phe34491Ile) c.77365T>A (p.Phe25789Ile) c.77224T>A (p.Phe25742Ile) c.103267T>A (p.Phe34423Ile) c.98665T>A (p.Phe32889Ile) c.98662T>A (p.Phe32888Ile) c.95704T>A (p.Phe31902Ile) c.77320T>A (p.Phe25774Ile) c.98815T>A (p.Phe32939Ile) c.98812T>A (p.Phe32938Ile) c.98245T>A (p.Phe32749Ile) c.95587T>A (p.Phe31863Ile) c.95506T>A (p.Phe31836Ile) c.77269T>A (p.Phe25757Ile) c.67123T>A (p.Phe22375Ile) | |
2 | g.178532242G>A | CA430235947 | TTN,TTN-AS1 | c.96669C>T (p.Asp32223=) c.77754C>T (p.Asp25918=) c.77553C>T (p.Asp25851=) c.77178C>T (p.Asp25726=) c.104373C>T (p.Asp34791=) c.99450C>T (p.Asp33150=) n.446+8606G>A n.220-3490G>A c.103470C>T (p.Asp34490=) c.77364C>T (p.Asp25788=) c.77223C>T (p.Asp25741=) c.103266C>T (p.Asp34422=) c.98664C>T (p.Asp32888=) c.98661C>T (p.Asp32887=) c.95703C>T (p.Asp31901=) c.77319C>T (p.Asp25773=) c.98814C>T (p.Asp32938=) c.98811C>T (p.Asp32937=) c.98244C>T (p.Asp32748=) c.95586C>T (p.Asp31862=) c.95505C>T (p.Asp31835=) c.77268C>T (p.Asp25756=) c.67122C>T (p.Asp22374=) | gnomAD v4 |
2 | g.178532242G>C | CA349411880 | TTN,TTN-AS1 | c.96669C>G (p.Asp32223Glu) c.77754C>G (p.Asp25918Glu) c.77553C>G (p.Asp25851Glu) c.77178C>G (p.Asp25726Glu) c.104373C>G (p.Asp34791Glu) c.99450C>G (p.Asp33150Glu) n.446+8606G>C n.220-3490G>C c.103470C>G (p.Asp34490Glu) c.77364C>G (p.Asp25788Glu) c.77223C>G (p.Asp25741Glu) c.103266C>G (p.Asp34422Glu) c.98664C>G (p.Asp32888Glu) c.98661C>G (p.Asp32887Glu) c.95703C>G (p.Asp31901Glu) c.77319C>G (p.Asp25773Glu) c.98814C>G (p.Asp32938Glu) c.98811C>G (p.Asp32937Glu) c.98244C>G (p.Asp32748Glu) c.95586C>G (p.Asp31862Glu) c.95505C>G (p.Asp31835Glu) c.77268C>G (p.Asp25756Glu) c.67122C>G (p.Asp22374Glu) | |
2 | g.178532242G>T | CA349411881 | TTN,TTN-AS1 | c.96669C>A (p.Asp32223Glu) c.77754C>A (p.Asp25918Glu) c.77553C>A (p.Asp25851Glu) c.77178C>A (p.Asp25726Glu) c.104373C>A (p.Asp34791Glu) c.99450C>A (p.Asp33150Glu) n.446+8606G>T n.220-3490G>T c.103470C>A (p.Asp34490Glu) c.77364C>A (p.Asp25788Glu) c.77223C>A (p.Asp25741Glu) c.103266C>A (p.Asp34422Glu) c.98664C>A (p.Asp32888Glu) c.98661C>A (p.Asp32887Glu) c.95703C>A (p.Asp31901Glu) c.77319C>A (p.Asp25773Glu) c.98814C>A (p.Asp32938Glu) c.98811C>A (p.Asp32937Glu) c.98244C>A (p.Asp32748Glu) c.95586C>A (p.Asp31862Glu) c.95505C>A (p.Asp31835Glu) c.77268C>A (p.Asp25756Glu) c.67122C>A (p.Asp22374Glu) | |
2 | g.178532243T>A | CA349411882 | TTN,TTN-AS1 | c.96668A>T (p.Asp32223Val) c.77753A>T (p.Asp25918Val) c.77552A>T (p.Asp25851Val) c.77177A>T (p.Asp25726Val) c.104372A>T (p.Asp34791Val) c.99449A>T (p.Asp33150Val) n.446+8607T>A n.220-3489T>A c.103469A>T (p.Asp34490Val) c.77363A>T (p.Asp25788Val) c.77222A>T (p.Asp25741Val) c.103265A>T (p.Asp34422Val) c.98663A>T (p.Asp32888Val) c.98660A>T (p.Asp32887Val) c.95702A>T (p.Asp31901Val) c.77318A>T (p.Asp25773Val) c.98813A>T (p.Asp32938Val) c.98810A>T (p.Asp32937Val) c.98243A>T (p.Asp32748Val) c.95585A>T (p.Asp31862Val) c.95504A>T (p.Asp31835Val) c.77267A>T (p.Asp25756Val) c.67121A>T (p.Asp22374Val) | |
2 | g.178532243T>C | CA349411883 | TTN,TTN-AS1 | c.96668A>G (p.Asp32223Gly) c.77753A>G (p.Asp25918Gly) c.77552A>G (p.Asp25851Gly) c.77177A>G (p.Asp25726Gly) c.104372A>G (p.Asp34791Gly) c.99449A>G (p.Asp33150Gly) n.446+8607T>C n.220-3489T>C c.103469A>G (p.Asp34490Gly) c.77363A>G (p.Asp25788Gly) c.77222A>G (p.Asp25741Gly) c.103265A>G (p.Asp34422Gly) c.98663A>G (p.Asp32888Gly) c.98660A>G (p.Asp32887Gly) c.95702A>G (p.Asp31901Gly) c.77318A>G (p.Asp25773Gly) c.98813A>G (p.Asp32938Gly) c.98810A>G (p.Asp32937Gly) c.98243A>G (p.Asp32748Gly) c.95585A>G (p.Asp31862Gly) c.95504A>G (p.Asp31835Gly) c.77267A>G (p.Asp25756Gly) c.67121A>G (p.Asp22374Gly) | |
2 | g.178532243T>G | CA349411884 | TTN,TTN-AS1 | c.96668A>C (p.Asp32223Ala) c.77753A>C (p.Asp25918Ala) c.77552A>C (p.Asp25851Ala) c.77177A>C (p.Asp25726Ala) c.104372A>C (p.Asp34791Ala) c.99449A>C (p.Asp33150Ala) n.446+8607T>G n.220-3489T>G c.103469A>C (p.Asp34490Ala) c.77363A>C (p.Asp25788Ala) c.77222A>C (p.Asp25741Ala) c.103265A>C (p.Asp34422Ala) c.98663A>C (p.Asp32888Ala) c.98660A>C (p.Asp32887Ala) c.95702A>C (p.Asp31901Ala) c.77318A>C (p.Asp25773Ala) c.98813A>C (p.Asp32938Ala) c.98810A>C (p.Asp32937Ala) c.98243A>C (p.Asp32748Ala) c.95585A>C (p.Asp31862Ala) c.95504A>C (p.Asp31835Ala) c.77267A>C (p.Asp25756Ala) c.67121A>C (p.Asp22374Ala) | gnomAD v4 |
2 | g.178532244C>A | CA349411885 | TTN,TTN-AS1 | c.96667G>T (p.Asp32223Tyr) c.77752G>T (p.Asp25918Tyr) c.77551G>T (p.Asp25851Tyr) c.77176G>T (p.Asp25726Tyr) c.104371G>T (p.Asp34791Tyr) c.99448G>T (p.Asp33150Tyr) n.446+8608C>A n.220-3488C>A c.103468G>T (p.Asp34490Tyr) c.77362G>T (p.Asp25788Tyr) c.77221G>T (p.Asp25741Tyr) c.103264G>T (p.Asp34422Tyr) c.98662G>T (p.Asp32888Tyr) c.98659G>T (p.Asp32887Tyr) c.95701G>T (p.Asp31901Tyr) c.77317G>T (p.Asp25773Tyr) c.98812G>T (p.Asp32938Tyr) c.98809G>T (p.Asp32937Tyr) c.98242G>T (p.Asp32748Tyr) c.95584G>T (p.Asp31862Tyr) c.95503G>T (p.Asp31835Tyr) c.77266G>T (p.Asp25756Tyr) c.67120G>T (p.Asp22374Tyr) | dbSNP gnomAD v4 |
2 | g.178532244C= | CA1310518142 | TTN,TTN-AS1 | c.96667G= (p.Asp32223=) c.77752G= (p.Asp25918=) c.77551G= (p.Asp25851=) c.77176G= (p.Asp25726=) c.104371G= (p.Asp34791=) c.99448G= (p.Asp33150=) n.446+8608C= n.220-3488C= c.103468G= (p.Asp34490=) c.77362G= (p.Asp25788=) c.77221G= (p.Asp25741=) c.103264G= (p.Asp34422=) c.98662G= (p.Asp32888=) c.98659G= (p.Asp32887=) c.95701G= (p.Asp31901=) c.77317G= (p.Asp25773=) c.98812G= (p.Asp32938=) c.98809G= (p.Asp32937=) c.98242G= (p.Asp32748=) c.95584G= (p.Asp31862=) c.95503G= (p.Asp31835=) c.77266G= (p.Asp25756=) c.67120G= (p.Asp22374=) | |
2 | g.178532244C>G | CA349411887 | TTN,TTN-AS1 | c.96667G>C (p.Asp32223His) c.77752G>C (p.Asp25918His) c.77551G>C (p.Asp25851His) c.77176G>C (p.Asp25726His) c.104371G>C (p.Asp34791His) c.99448G>C (p.Asp33150His) n.446+8608C>G n.220-3488C>G c.103468G>C (p.Asp34490His) c.77362G>C (p.Asp25788His) c.77221G>C (p.Asp25741His) c.103264G>C (p.Asp34422His) c.98662G>C (p.Asp32888His) c.98659G>C (p.Asp32887His) c.95701G>C (p.Asp31901His) c.77317G>C (p.Asp25773His) c.98812G>C (p.Asp32938His) c.98809G>C (p.Asp32937His) c.98242G>C (p.Asp32748His) c.95584G>C (p.Asp31862His) c.95503G>C (p.Asp31835His) c.77266G>C (p.Asp25756His) c.67120G>C (p.Asp22374His) | |
2 | g.178532244C>T | CA349411886 | TTN,TTN-AS1 | c.96667G>A (p.Asp32223Asn) c.77752G>A (p.Asp25918Asn) c.77551G>A (p.Asp25851Asn) c.77176G>A (p.Asp25726Asn) c.104371G>A (p.Asp34791Asn) c.99448G>A (p.Asp33150Asn) n.446+8608C>T n.220-3488C>T c.103468G>A (p.Asp34490Asn) c.77362G>A (p.Asp25788Asn) c.77221G>A (p.Asp25741Asn) c.103264G>A (p.Asp34422Asn) c.98662G>A (p.Asp32888Asn) c.98659G>A (p.Asp32887Asn) c.95701G>A (p.Asp31901Asn) c.77317G>A (p.Asp25773Asn) c.98812G>A (p.Asp32938Asn) c.98809G>A (p.Asp32937Asn) c.98242G>A (p.Asp32748Asn) c.95584G>A (p.Asp31862Asn) c.95503G>A (p.Asp31835Asn) c.77266G>A (p.Asp25756Asn) c.67120G>A (p.Asp22374Asn) |