| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178630922C>A | CA349646329 | TTN | c.36332G>T (p.Arg12111Leu) c.17417G>T (p.Arg5806Leu) c.17216G>T (p.Arg5739Leu) c.16841G>T (p.Arg5614Leu) c.44036G>T (p.Arg14679Leu) c.39113G>T (p.Arg13038Leu) c.43133G>T (p.Arg14378Leu) c.17027G>T (p.Arg5676Leu) c.16886G>T (p.Arg5629Leu) c.42929G>T (p.Arg14310Leu) c.38327G>T (p.Arg12776Leu) c.38324G>T (p.Arg12775Leu) c.35366G>T (p.Arg11789Leu) c.16982G>T (p.Arg5661Leu) c.38477G>T (p.Arg12826Leu) c.38474G>T (p.Arg12825Leu) c.37907G>T (p.Arg12636Leu) c.35249G>T (p.Arg11750Leu) c.35168G>T (p.Arg11723Leu) c.16931G>T (p.Arg5644Leu) c.6785G>T (p.Arg2262Leu) | |
| 2 | g.178630922C= | CA1310556154 | TTN | c.36332G= (p.Arg12111=) c.17417G= (p.Arg5806=) c.17216G= (p.Arg5739=) c.16841G= (p.Arg5614=) c.44036G= (p.Arg14679=) c.39113G= (p.Arg13038=) c.43133G= (p.Arg14378=) c.17027G= (p.Arg5676=) c.16886G= (p.Arg5629=) c.42929G= (p.Arg14310=) c.38327G= (p.Arg12776=) c.38324G= (p.Arg12775=) c.35366G= (p.Arg11789=) c.16982G= (p.Arg5661=) c.38477G= (p.Arg12826=) c.38474G= (p.Arg12825=) c.37907G= (p.Arg12636=) c.35249G= (p.Arg11750=) c.35168G= (p.Arg11723=) c.16931G= (p.Arg5644=) c.6785G= (p.Arg2262=) | |
| 2 | g.178630922C>G | CA349646331 | TTN | c.36332G>C (p.Arg12111Pro) c.17417G>C (p.Arg5806Pro) c.17216G>C (p.Arg5739Pro) c.16841G>C (p.Arg5614Pro) c.44036G>C (p.Arg14679Pro) c.39113G>C (p.Arg13038Pro) c.43133G>C (p.Arg14378Pro) c.17027G>C (p.Arg5676Pro) c.16886G>C (p.Arg5629Pro) c.42929G>C (p.Arg14310Pro) c.38327G>C (p.Arg12776Pro) c.38324G>C (p.Arg12775Pro) c.35366G>C (p.Arg11789Pro) c.16982G>C (p.Arg5661Pro) c.38477G>C (p.Arg12826Pro) c.38474G>C (p.Arg12825Pro) c.37907G>C (p.Arg12636Pro) c.35249G>C (p.Arg11750Pro) c.35168G>C (p.Arg11723Pro) c.16931G>C (p.Arg5644Pro) c.6785G>C (p.Arg2262Pro) | |
| 2 | g.178630922C>T | CA1995765 | TTN | c.36332G>A (p.Arg12111Gln) c.17417G>A (p.Arg5806Gln) c.17216G>A (p.Arg5739Gln) c.16841G>A (p.Arg5614Gln) c.44036G>A (p.Arg14679Gln) c.39113G>A (p.Arg13038Gln) c.43133G>A (p.Arg14378Gln) c.17027G>A (p.Arg5676Gln) c.16886G>A (p.Arg5629Gln) c.42929G>A (p.Arg14310Gln) c.38327G>A (p.Arg12776Gln) c.38324G>A (p.Arg12775Gln) c.35366G>A (p.Arg11789Gln) c.16982G>A (p.Arg5661Gln) c.38477G>A (p.Arg12826Gln) c.38474G>A (p.Arg12825Gln) c.37907G>A (p.Arg12636Gln) c.35249G>A (p.Arg11750Gln) c.35168G>A (p.Arg11723Gln) c.16931G>A (p.Arg5644Gln) c.6785G>A (p.Arg2262Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178630923G>A | CA1995766 | TTN | c.36331C>T (p.Arg12111Ter) c.17416C>T (p.Arg5806Ter) c.17215C>T (p.Arg5739Ter) c.16840C>T (p.Arg5614Ter) c.44035C>T (p.Arg14679Ter) c.39112C>T (p.Arg13038Ter) c.43132C>T (p.Arg14378Ter) c.17026C>T (p.Arg5676Ter) c.16885C>T (p.Arg5629Ter) c.42928C>T (p.Arg14310Ter) c.38326C>T (p.Arg12776Ter) c.38323C>T (p.Arg12775Ter) c.35365C>T (p.Arg11789Ter) c.16981C>T (p.Arg5661Ter) c.38476C>T (p.Arg12826Ter) c.38473C>T (p.Arg12825Ter) c.37906C>T (p.Arg12636Ter) c.35248C>T (p.Arg11750Ter) c.35167C>T (p.Arg11723Ter) c.16930C>T (p.Arg5644Ter) c.6784C>T (p.Arg2262Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178630923G>C | CA349646333 | TTN | c.36331C>G (p.Arg12111Gly) c.17416C>G (p.Arg5806Gly) c.17215C>G (p.Arg5739Gly) c.16840C>G (p.Arg5614Gly) c.44035C>G (p.Arg14679Gly) c.39112C>G (p.Arg13038Gly) c.43132C>G (p.Arg14378Gly) c.17026C>G (p.Arg5676Gly) c.16885C>G (p.Arg5629Gly) c.42928C>G (p.Arg14310Gly) c.38326C>G (p.Arg12776Gly) c.38323C>G (p.Arg12775Gly) c.35365C>G (p.Arg11789Gly) c.16981C>G (p.Arg5661Gly) c.38476C>G (p.Arg12826Gly) c.38473C>G (p.Arg12825Gly) c.37906C>G (p.Arg12636Gly) c.35248C>G (p.Arg11750Gly) c.35167C>G (p.Arg11723Gly) c.16930C>G (p.Arg5644Gly) c.6784C>G (p.Arg2262Gly) | |
| 2 | g.178630923G= | CA1310556155 | TTN | c.36331C= (p.Arg12111=) c.17416C= (p.Arg5806=) c.17215C= (p.Arg5739=) c.16840C= (p.Arg5614=) c.44035C= (p.Arg14679=) c.39112C= (p.Arg13038=) c.43132C= (p.Arg14378=) c.17026C= (p.Arg5676=) c.16885C= (p.Arg5629=) c.42928C= (p.Arg14310=) c.38326C= (p.Arg12776=) c.38323C= (p.Arg12775=) c.35365C= (p.Arg11789=) c.16981C= (p.Arg5661=) c.38476C= (p.Arg12826=) c.38473C= (p.Arg12825=) c.37906C= (p.Arg12636=) c.35248C= (p.Arg11750=) c.35167C= (p.Arg11723=) c.16930C= (p.Arg5644=) c.6784C= (p.Arg2262=) | |
| 2 | g.178630923G>T | CA430114031 | TTN | c.36331C>A (p.Arg12111=) c.17416C>A (p.Arg5806=) c.17215C>A (p.Arg5739=) c.16840C>A (p.Arg5614=) c.44035C>A (p.Arg14679=) c.39112C>A (p.Arg13038=) c.43132C>A (p.Arg14378=) c.17026C>A (p.Arg5676=) c.16885C>A (p.Arg5629=) c.42928C>A (p.Arg14310=) c.38326C>A (p.Arg12776=) c.38323C>A (p.Arg12775=) c.35365C>A (p.Arg11789=) c.16981C>A (p.Arg5661=) c.38476C>A (p.Arg12826=) c.38473C>A (p.Arg12825=) c.37906C>A (p.Arg12636=) c.35248C>A (p.Arg11750=) c.35167C>A (p.Arg11723=) c.16930C>A (p.Arg5644=) c.6784C>A (p.Arg2262=) | |
| 2 | g.178630924C>A | CA430114032 | TTN | c.36330G>T (p.Val12110=) c.17415G>T (p.Val5805=) c.17214G>T (p.Val5738=) c.16839G>T (p.Val5613=) c.44034G>T (p.Val14678=) c.39111G>T (p.Val13037=) c.43131G>T (p.Val14377=) c.17025G>T (p.Val5675=) c.16884G>T (p.Val5628=) c.42927G>T (p.Val14309=) c.38325G>T (p.Val12775=) c.38322G>T (p.Val12774=) c.35364G>T (p.Val11788=) c.16980G>T (p.Val5660=) c.38475G>T (p.Val12825=) c.38472G>T (p.Val12824=) c.37905G>T (p.Val12635=) c.35247G>T (p.Val11749=) c.35166G>T (p.Val11722=) c.16929G>T (p.Val5643=) c.6783G>T (p.Val2261=) | |
| 2 | g.178630924C= | CA1310556156 | TTN | c.36330G= (p.Val12110=) c.17415G= (p.Val5805=) c.17214G= (p.Val5738=) c.16839G= (p.Val5613=) c.44034G= (p.Val14678=) c.39111G= (p.Val13037=) c.43131G= (p.Val14377=) c.17025G= (p.Val5675=) c.16884G= (p.Val5628=) c.42927G= (p.Val14309=) c.38325G= (p.Val12775=) c.38322G= (p.Val12774=) c.35364G= (p.Val11788=) c.16980G= (p.Val5660=) c.38475G= (p.Val12825=) c.38472G= (p.Val12824=) c.37905G= (p.Val12635=) c.35247G= (p.Val11749=) c.35166G= (p.Val11722=) c.16929G= (p.Val5643=) c.6783G= (p.Val2261=) | |
| 2 | g.178630924C>G | CA430114033 | TTN | c.36330G>C (p.Val12110=) c.17415G>C (p.Val5805=) c.17214G>C (p.Val5738=) c.16839G>C (p.Val5613=) c.44034G>C (p.Val14678=) c.39111G>C (p.Val13037=) c.43131G>C (p.Val14377=) c.17025G>C (p.Val5675=) c.16884G>C (p.Val5628=) c.42927G>C (p.Val14309=) c.38325G>C (p.Val12775=) c.38322G>C (p.Val12774=) c.35364G>C (p.Val11788=) c.16980G>C (p.Val5660=) c.38475G>C (p.Val12825=) c.38472G>C (p.Val12824=) c.37905G>C (p.Val12635=) c.35247G>C (p.Val11749=) c.35166G>C (p.Val11722=) c.16929G>C (p.Val5643=) c.6783G>C (p.Val2261=) | |
| 2 | g.178630924C>T | CA430114034 | TTN | c.36330G>A (p.Val12110=) c.17415G>A (p.Val5805=) c.17214G>A (p.Val5738=) c.16839G>A (p.Val5613=) c.44034G>A (p.Val14678=) c.39111G>A (p.Val13037=) c.43131G>A (p.Val14377=) c.17025G>A (p.Val5675=) c.16884G>A (p.Val5628=) c.42927G>A (p.Val14309=) c.38325G>A (p.Val12775=) c.38322G>A (p.Val12774=) c.35364G>A (p.Val11788=) c.16980G>A (p.Val5660=) c.38475G>A (p.Val12825=) c.38472G>A (p.Val12824=) c.37905G>A (p.Val12635=) c.35247G>A (p.Val11749=) c.35166G>A (p.Val11722=) c.16929G>A (p.Val5643=) c.6783G>A (p.Val2261=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.178630925A>C | CA349646335 | TTN | c.36329T>G (p.Val12110Gly) c.17414T>G (p.Val5805Gly) c.17213T>G (p.Val5738Gly) c.16838T>G (p.Val5613Gly) c.44033T>G (p.Val14678Gly) c.39110T>G (p.Val13037Gly) c.43130T>G (p.Val14377Gly) c.17024T>G (p.Val5675Gly) c.16883T>G (p.Val5628Gly) c.42926T>G (p.Val14309Gly) c.38324T>G (p.Val12775Gly) c.38321T>G (p.Val12774Gly) c.35363T>G (p.Val11788Gly) c.16979T>G (p.Val5660Gly) c.38474T>G (p.Val12825Gly) c.38471T>G (p.Val12824Gly) c.37904T>G (p.Val12635Gly) c.35246T>G (p.Val11749Gly) c.35165T>G (p.Val11722Gly) c.16928T>G (p.Val5643Gly) c.6782T>G (p.Val2261Gly) | |
| 2 | g.178630925A>G | CA349646339 | TTN | c.36329T>C (p.Val12110Ala) c.17414T>C (p.Val5805Ala) c.17213T>C (p.Val5738Ala) c.16838T>C (p.Val5613Ala) c.44033T>C (p.Val14678Ala) c.39110T>C (p.Val13037Ala) c.43130T>C (p.Val14377Ala) c.17024T>C (p.Val5675Ala) c.16883T>C (p.Val5628Ala) c.42926T>C (p.Val14309Ala) c.38324T>C (p.Val12775Ala) c.38321T>C (p.Val12774Ala) c.35363T>C (p.Val11788Ala) c.16979T>C (p.Val5660Ala) c.38474T>C (p.Val12825Ala) c.38471T>C (p.Val12824Ala) c.37904T>C (p.Val12635Ala) c.35246T>C (p.Val11749Ala) c.35165T>C (p.Val11722Ala) c.16928T>C (p.Val5643Ala) c.6782T>C (p.Val2261Ala) | |
| 2 | g.178630925A>T | CA349646337 | TTN | c.36329T>A (p.Val12110Glu) c.17414T>A (p.Val5805Glu) c.17213T>A (p.Val5738Glu) c.16838T>A (p.Val5613Glu) c.44033T>A (p.Val14678Glu) c.39110T>A (p.Val13037Glu) c.43130T>A (p.Val14377Glu) c.17024T>A (p.Val5675Glu) c.16883T>A (p.Val5628Glu) c.42926T>A (p.Val14309Glu) c.38324T>A (p.Val12775Glu) c.38321T>A (p.Val12774Glu) c.35363T>A (p.Val11788Glu) c.16979T>A (p.Val5660Glu) c.38474T>A (p.Val12825Glu) c.38471T>A (p.Val12824Glu) c.37904T>A (p.Val12635Glu) c.35246T>A (p.Val11749Glu) c.35165T>A (p.Val11722Glu) c.16928T>A (p.Val5643Glu) c.6782T>A (p.Val2261Glu) | gnomAD v4 |
| 2 | g.178630926C>A | CA349646341 | TTN | c.36328G>T (p.Val12110Leu) c.17413G>T (p.Val5805Leu) c.17212G>T (p.Val5738Leu) c.16837G>T (p.Val5613Leu) c.44032G>T (p.Val14678Leu) c.39109G>T (p.Val13037Leu) c.43129G>T (p.Val14377Leu) c.17023G>T (p.Val5675Leu) c.16882G>T (p.Val5628Leu) c.42925G>T (p.Val14309Leu) c.38323G>T (p.Val12775Leu) c.38320G>T (p.Val12774Leu) c.35362G>T (p.Val11788Leu) c.16978G>T (p.Val5660Leu) c.38473G>T (p.Val12825Leu) c.38470G>T (p.Val12824Leu) c.37903G>T (p.Val12635Leu) c.35245G>T (p.Val11749Leu) c.35164G>T (p.Val11722Leu) c.16927G>T (p.Val5643Leu) c.6781G>T (p.Val2261Leu) | |
| 2 | g.178630926C= | CA1310556157 | TTN | c.36328G= (p.Val12110=) c.17413G= (p.Val5805=) c.17212G= (p.Val5738=) c.16837G= (p.Val5613=) c.44032G= (p.Val14678=) c.39109G= (p.Val13037=) c.43129G= (p.Val14377=) c.17023G= (p.Val5675=) c.16882G= (p.Val5628=) c.42925G= (p.Val14309=) c.38323G= (p.Val12775=) c.38320G= (p.Val12774=) c.35362G= (p.Val11788=) c.16978G= (p.Val5660=) c.38473G= (p.Val12825=) c.38470G= (p.Val12824=) c.37903G= (p.Val12635=) c.35245G= (p.Val11749=) c.35164G= (p.Val11722=) c.16927G= (p.Val5643=) c.6781G= (p.Val2261=) | |
| 2 | g.178630926C>G | CA349646342 | TTN | c.36328G>C (p.Val12110Leu) c.17413G>C (p.Val5805Leu) c.17212G>C (p.Val5738Leu) c.16837G>C (p.Val5613Leu) c.44032G>C (p.Val14678Leu) c.39109G>C (p.Val13037Leu) c.43129G>C (p.Val14377Leu) c.17023G>C (p.Val5675Leu) c.16882G>C (p.Val5628Leu) c.42925G>C (p.Val14309Leu) c.38323G>C (p.Val12775Leu) c.38320G>C (p.Val12774Leu) c.35362G>C (p.Val11788Leu) c.16978G>C (p.Val5660Leu) c.38473G>C (p.Val12825Leu) c.38470G>C (p.Val12824Leu) c.37903G>C (p.Val12635Leu) c.35245G>C (p.Val11749Leu) c.35164G>C (p.Val11722Leu) c.16927G>C (p.Val5643Leu) c.6781G>C (p.Val2261Leu) | gnomAD v4 |
| 2 | g.178630926C>T | CA1995767 | TTN | c.36328G>A (p.Val12110Met) c.17413G>A (p.Val5805Met) c.17212G>A (p.Val5738Met) c.16837G>A (p.Val5613Met) c.44032G>A (p.Val14678Met) c.39109G>A (p.Val13037Met) c.43129G>A (p.Val14377Met) c.17023G>A (p.Val5675Met) c.16882G>A (p.Val5628Met) c.42925G>A (p.Val14309Met) c.38323G>A (p.Val12775Met) c.38320G>A (p.Val12774Met) c.35362G>A (p.Val11788Met) c.16978G>A (p.Val5660Met) c.38473G>A (p.Val12825Met) c.38470G>A (p.Val12824Met) c.37903G>A (p.Val12635Met) c.35245G>A (p.Val11749Met) c.35164G>A (p.Val11722Met) c.16927G>A (p.Val5643Met) c.6781G>A (p.Val2261Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178630927C>A | CA430114036 | TTN | c.36327G>T (p.Leu12109=) c.17412G>T (p.Leu5804=) c.17211G>T (p.Leu5737=) c.16836G>T (p.Leu5612=) c.44031G>T (p.Leu14677=) c.39108G>T (p.Leu13036=) c.43128G>T (p.Leu14376=) c.17022G>T (p.Leu5674=) c.16881G>T (p.Leu5627=) c.42924G>T (p.Leu14308=) c.38322G>T (p.Leu12774=) c.38319G>T (p.Leu12773=) c.35361G>T (p.Leu11787=) c.16977G>T (p.Leu5659=) c.38472G>T (p.Leu12824=) c.38469G>T (p.Leu12823=) c.37902G>T (p.Leu12634=) c.35244G>T (p.Leu11748=) c.35163G>T (p.Leu11721=) c.16926G>T (p.Leu5642=) c.6780G>T (p.Leu2260=) | |
| 2 | g.178630927C>G | CA430114037 | TTN | c.36327G>C (p.Leu12109=) c.17412G>C (p.Leu5804=) c.17211G>C (p.Leu5737=) c.16836G>C (p.Leu5612=) c.44031G>C (p.Leu14677=) c.39108G>C (p.Leu13036=) c.43128G>C (p.Leu14376=) c.17022G>C (p.Leu5674=) c.16881G>C (p.Leu5627=) c.42924G>C (p.Leu14308=) c.38322G>C (p.Leu12774=) c.38319G>C (p.Leu12773=) c.35361G>C (p.Leu11787=) c.16977G>C (p.Leu5659=) c.38472G>C (p.Leu12824=) c.38469G>C (p.Leu12823=) c.37902G>C (p.Leu12634=) c.35244G>C (p.Leu11748=) c.35163G>C (p.Leu11721=) c.16926G>C (p.Leu5642=) c.6780G>C (p.Leu2260=) | ClinVar gnomAD v4 |
| 2 | g.178630927C>T | CA430114038 | TTN | c.36327G>A (p.Leu12109=) c.17412G>A (p.Leu5804=) c.17211G>A (p.Leu5737=) c.16836G>A (p.Leu5612=) c.44031G>A (p.Leu14677=) c.39108G>A (p.Leu13036=) c.43128G>A (p.Leu14376=) c.17022G>A (p.Leu5674=) c.16881G>A (p.Leu5627=) c.42924G>A (p.Leu14308=) c.38322G>A (p.Leu12774=) c.38319G>A (p.Leu12773=) c.35361G>A (p.Leu11787=) c.16977G>A (p.Leu5659=) c.38472G>A (p.Leu12824=) c.38469G>A (p.Leu12823=) c.37902G>A (p.Leu12634=) c.35244G>A (p.Leu11748=) c.35163G>A (p.Leu11721=) c.16926G>A (p.Leu5642=) c.6780G>A (p.Leu2260=) | |
| 2 | g.178630928A>C | CA349646345 | TTN | c.36326T>G (p.Leu12109Arg) c.17411T>G (p.Leu5804Arg) c.17210T>G (p.Leu5737Arg) c.16835T>G (p.Leu5612Arg) c.44030T>G (p.Leu14677Arg) c.39107T>G (p.Leu13036Arg) c.43127T>G (p.Leu14376Arg) c.17021T>G (p.Leu5674Arg) c.16880T>G (p.Leu5627Arg) c.42923T>G (p.Leu14308Arg) c.38321T>G (p.Leu12774Arg) c.38318T>G (p.Leu12773Arg) c.35360T>G (p.Leu11787Arg) c.16976T>G (p.Leu5659Arg) c.38471T>G (p.Leu12824Arg) c.38468T>G (p.Leu12823Arg) c.37901T>G (p.Leu12634Arg) c.35243T>G (p.Leu11748Arg) c.35162T>G (p.Leu11721Arg) c.16925T>G (p.Leu5642Arg) c.6779T>G (p.Leu2260Arg) | |
| 2 | g.178630928A>G | CA349646347 | TTN | c.36326T>C (p.Leu12109Pro) c.17411T>C (p.Leu5804Pro) c.17210T>C (p.Leu5737Pro) c.16835T>C (p.Leu5612Pro) c.44030T>C (p.Leu14677Pro) c.39107T>C (p.Leu13036Pro) c.43127T>C (p.Leu14376Pro) c.17021T>C (p.Leu5674Pro) c.16880T>C (p.Leu5627Pro) c.42923T>C (p.Leu14308Pro) c.38321T>C (p.Leu12774Pro) c.38318T>C (p.Leu12773Pro) c.35360T>C (p.Leu11787Pro) c.16976T>C (p.Leu5659Pro) c.38471T>C (p.Leu12824Pro) c.38468T>C (p.Leu12823Pro) c.37901T>C (p.Leu12634Pro) c.35243T>C (p.Leu11748Pro) c.35162T>C (p.Leu11721Pro) c.16925T>C (p.Leu5642Pro) c.6779T>C (p.Leu2260Pro) | gnomAD v4 |
| 2 | g.178630928A>T | CA349646348 | TTN | c.36326T>A (p.Leu12109Gln) c.17411T>A (p.Leu5804Gln) c.17210T>A (p.Leu5737Gln) c.16835T>A (p.Leu5612Gln) c.44030T>A (p.Leu14677Gln) c.39107T>A (p.Leu13036Gln) c.43127T>A (p.Leu14376Gln) c.17021T>A (p.Leu5674Gln) c.16880T>A (p.Leu5627Gln) c.42923T>A (p.Leu14308Gln) c.38321T>A (p.Leu12774Gln) c.38318T>A (p.Leu12773Gln) c.35360T>A (p.Leu11787Gln) c.16976T>A (p.Leu5659Gln) c.38471T>A (p.Leu12824Gln) c.38468T>A (p.Leu12823Gln) c.37901T>A (p.Leu12634Gln) c.35243T>A (p.Leu11748Gln) c.35162T>A (p.Leu11721Gln) c.16925T>A (p.Leu5642Gln) c.6779T>A (p.Leu2260Gln) | |
| 2 | g.178630929G>A | CA430114043 | TTN | c.36325C>T (p.Leu12109=) c.17410C>T (p.Leu5804=) c.17209C>T (p.Leu5737=) c.16834C>T (p.Leu5612=) c.44029C>T (p.Leu14677=) c.39106C>T (p.Leu13036=) c.43126C>T (p.Leu14376=) c.17020C>T (p.Leu5674=) c.16879C>T (p.Leu5627=) c.42922C>T (p.Leu14308=) c.38320C>T (p.Leu12774=) c.38317C>T (p.Leu12773=) c.35359C>T (p.Leu11787=) c.16975C>T (p.Leu5659=) c.38470C>T (p.Leu12824=) c.38467C>T (p.Leu12823=) c.37900C>T (p.Leu12634=) c.35242C>T (p.Leu11748=) c.35161C>T (p.Leu11721=) c.16924C>T (p.Leu5642=) c.6778C>T (p.Leu2260=) | COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178630929G>C | CA349646350 | TTN | c.36325C>G (p.Leu12109Val) c.17410C>G (p.Leu5804Val) c.17209C>G (p.Leu5737Val) c.16834C>G (p.Leu5612Val) c.44029C>G (p.Leu14677Val) c.39106C>G (p.Leu13036Val) c.43126C>G (p.Leu14376Val) c.17020C>G (p.Leu5674Val) c.16879C>G (p.Leu5627Val) c.42922C>G (p.Leu14308Val) c.38320C>G (p.Leu12774Val) c.38317C>G (p.Leu12773Val) c.35359C>G (p.Leu11787Val) c.16975C>G (p.Leu5659Val) c.38470C>G (p.Leu12824Val) c.38467C>G (p.Leu12823Val) c.37900C>G (p.Leu12634Val) c.35242C>G (p.Leu11748Val) c.35161C>G (p.Leu11721Val) c.16924C>G (p.Leu5642Val) c.6778C>G (p.Leu2260Val) | gnomAD v4 |
| 2 | g.178630929G>T | CA349646351 | TTN | c.36325C>A (p.Leu12109Met) c.17410C>A (p.Leu5804Met) c.17209C>A (p.Leu5737Met) c.16834C>A (p.Leu5612Met) c.44029C>A (p.Leu14677Met) c.39106C>A (p.Leu13036Met) c.43126C>A (p.Leu14376Met) c.17020C>A (p.Leu5674Met) c.16879C>A (p.Leu5627Met) c.42922C>A (p.Leu14308Met) c.38320C>A (p.Leu12774Met) c.38317C>A (p.Leu12773Met) c.35359C>A (p.Leu11787Met) c.16975C>A (p.Leu5659Met) c.38470C>A (p.Leu12824Met) c.38467C>A (p.Leu12823Met) c.37900C>A (p.Leu12634Met) c.35242C>A (p.Leu11748Met) c.35161C>A (p.Leu11721Met) c.16924C>A (p.Leu5642Met) c.6778C>A (p.Leu2260Met) | |
| 2 | g.178630930T>A | CA349646352 | TTN | c.36324A>T (p.Lys12108Asn) c.17409A>T (p.Lys5803Asn) c.17208A>T (p.Lys5736Asn) c.16833A>T (p.Lys5611Asn) c.44028A>T (p.Lys14676Asn) c.39105A>T (p.Lys13035Asn) c.43125A>T (p.Lys14375Asn) c.17019A>T (p.Lys5673Asn) c.16878A>T (p.Lys5626Asn) c.42921A>T (p.Lys14307Asn) c.38319A>T (p.Lys12773Asn) c.38316A>T (p.Lys12772Asn) c.35358A>T (p.Lys11786Asn) c.16974A>T (p.Lys5658Asn) c.38469A>T (p.Lys12823Asn) c.38466A>T (p.Lys12822Asn) c.37899A>T (p.Lys12633Asn) c.35241A>T (p.Lys11747Asn) c.35160A>T (p.Lys11720Asn) c.16923A>T (p.Lys5641Asn) c.6777A>T (p.Lys2259Asn) | |
| 2 | g.178630930T>C | CA430114045 | TTN | c.36324A>G (p.Lys12108=) c.17409A>G (p.Lys5803=) c.17208A>G (p.Lys5736=) c.16833A>G (p.Lys5611=) c.44028A>G (p.Lys14676=) c.39105A>G (p.Lys13035=) c.43125A>G (p.Lys14375=) c.17019A>G (p.Lys5673=) c.16878A>G (p.Lys5626=) c.42921A>G (p.Lys14307=) c.38319A>G (p.Lys12773=) c.38316A>G (p.Lys12772=) c.35358A>G (p.Lys11786=) c.16974A>G (p.Lys5658=) c.38469A>G (p.Lys12823=) c.38466A>G (p.Lys12822=) c.37899A>G (p.Lys12633=) c.35241A>G (p.Lys11747=) c.35160A>G (p.Lys11720=) c.16923A>G (p.Lys5641=) c.6777A>G (p.Lys2259=) | ClinVar gnomAD v4 |
| 2 | g.178630930T>G | CA349646353 | TTN | c.36324A>C (p.Lys12108Asn) c.17409A>C (p.Lys5803Asn) c.17208A>C (p.Lys5736Asn) c.16833A>C (p.Lys5611Asn) c.44028A>C (p.Lys14676Asn) c.39105A>C (p.Lys13035Asn) c.43125A>C (p.Lys14375Asn) c.17019A>C (p.Lys5673Asn) c.16878A>C (p.Lys5626Asn) c.42921A>C (p.Lys14307Asn) c.38319A>C (p.Lys12773Asn) c.38316A>C (p.Lys12772Asn) c.35358A>C (p.Lys11786Asn) c.16974A>C (p.Lys5658Asn) c.38469A>C (p.Lys12823Asn) c.38466A>C (p.Lys12822Asn) c.37899A>C (p.Lys12633Asn) c.35241A>C (p.Lys11747Asn) c.35160A>C (p.Lys11720Asn) c.16923A>C (p.Lys5641Asn) c.6777A>C (p.Lys2259Asn) | |
| 2 | g.178630931T>A | CA349646354 | TTN | c.36323A>T (p.Lys12108Ile) c.17408A>T (p.Lys5803Ile) c.17207A>T (p.Lys5736Ile) c.16832A>T (p.Lys5611Ile) c.44027A>T (p.Lys14676Ile) c.39104A>T (p.Lys13035Ile) c.43124A>T (p.Lys14375Ile) c.17018A>T (p.Lys5673Ile) c.16877A>T (p.Lys5626Ile) c.42920A>T (p.Lys14307Ile) c.38318A>T (p.Lys12773Ile) c.38315A>T (p.Lys12772Ile) c.35357A>T (p.Lys11786Ile) c.16973A>T (p.Lys5658Ile) c.38468A>T (p.Lys12823Ile) c.38465A>T (p.Lys12822Ile) c.37898A>T (p.Lys12633Ile) c.35240A>T (p.Lys11747Ile) c.35159A>T (p.Lys11720Ile) c.16922A>T (p.Lys5641Ile) c.6776A>T (p.Lys2259Ile) | |
| 2 | g.178630931T>C | CA349646356 | TTN | c.36323A>G (p.Lys12108Arg) c.17408A>G (p.Lys5803Arg) c.17207A>G (p.Lys5736Arg) c.16832A>G (p.Lys5611Arg) c.44027A>G (p.Lys14676Arg) c.39104A>G (p.Lys13035Arg) c.43124A>G (p.Lys14375Arg) c.17018A>G (p.Lys5673Arg) c.16877A>G (p.Lys5626Arg) c.42920A>G (p.Lys14307Arg) c.38318A>G (p.Lys12773Arg) c.38315A>G (p.Lys12772Arg) c.35357A>G (p.Lys11786Arg) c.16973A>G (p.Lys5658Arg) c.38468A>G (p.Lys12823Arg) c.38465A>G (p.Lys12822Arg) c.37898A>G (p.Lys12633Arg) c.35240A>G (p.Lys11747Arg) c.35159A>G (p.Lys11720Arg) c.16922A>G (p.Lys5641Arg) c.6776A>G (p.Lys2259Arg) | |
| 2 | g.178630931T>G | CA349646358 | TTN | c.36323A>C (p.Lys12108Thr) c.17408A>C (p.Lys5803Thr) c.17207A>C (p.Lys5736Thr) c.16832A>C (p.Lys5611Thr) c.44027A>C (p.Lys14676Thr) c.39104A>C (p.Lys13035Thr) c.43124A>C (p.Lys14375Thr) c.17018A>C (p.Lys5673Thr) c.16877A>C (p.Lys5626Thr) c.42920A>C (p.Lys14307Thr) c.38318A>C (p.Lys12773Thr) c.38315A>C (p.Lys12772Thr) c.35357A>C (p.Lys11786Thr) c.16973A>C (p.Lys5658Thr) c.38468A>C (p.Lys12823Thr) c.38465A>C (p.Lys12822Thr) c.37898A>C (p.Lys12633Thr) c.35240A>C (p.Lys11747Thr) c.35159A>C (p.Lys11720Thr) c.16922A>C (p.Lys5641Thr) c.6776A>C (p.Lys2259Thr) | |
| 2 | g.178630932T>A | CA349646361 | TTN | c.36322A>T (p.Lys12108Ter) c.17407A>T (p.Lys5803Ter) c.17206A>T (p.Lys5736Ter) c.16831A>T (p.Lys5611Ter) c.44026A>T (p.Lys14676Ter) c.39103A>T (p.Lys13035Ter) c.43123A>T (p.Lys14375Ter) c.17017A>T (p.Lys5673Ter) c.16876A>T (p.Lys5626Ter) c.42919A>T (p.Lys14307Ter) c.38317A>T (p.Lys12773Ter) c.38314A>T (p.Lys12772Ter) c.35356A>T (p.Lys11786Ter) c.16972A>T (p.Lys5658Ter) c.38467A>T (p.Lys12823Ter) c.38464A>T (p.Lys12822Ter) c.37897A>T (p.Lys12633Ter) c.35239A>T (p.Lys11747Ter) c.35158A>T (p.Lys11720Ter) c.16921A>T (p.Lys5641Ter) c.6775A>T (p.Lys2259Ter) | |
| 2 | g.178630932T>C | CA349646363 | TTN | c.36322A>G (p.Lys12108Glu) c.17407A>G (p.Lys5803Glu) c.17206A>G (p.Lys5736Glu) c.16831A>G (p.Lys5611Glu) c.44026A>G (p.Lys14676Glu) c.39103A>G (p.Lys13035Glu) c.43123A>G (p.Lys14375Glu) c.17017A>G (p.Lys5673Glu) c.16876A>G (p.Lys5626Glu) c.42919A>G (p.Lys14307Glu) c.38317A>G (p.Lys12773Glu) c.38314A>G (p.Lys12772Glu) c.35356A>G (p.Lys11786Glu) c.16972A>G (p.Lys5658Glu) c.38467A>G (p.Lys12823Glu) c.38464A>G (p.Lys12822Glu) c.37897A>G (p.Lys12633Glu) c.35239A>G (p.Lys11747Glu) c.35158A>G (p.Lys11720Glu) c.16921A>G (p.Lys5641Glu) c.6775A>G (p.Lys2259Glu) | |
| 2 | g.178630932T>G | CA349646364 | TTN | c.36322A>C (p.Lys12108Gln) c.17407A>C (p.Lys5803Gln) c.17206A>C (p.Lys5736Gln) c.16831A>C (p.Lys5611Gln) c.44026A>C (p.Lys14676Gln) c.39103A>C (p.Lys13035Gln) c.43123A>C (p.Lys14375Gln) c.17017A>C (p.Lys5673Gln) c.16876A>C (p.Lys5626Gln) c.42919A>C (p.Lys14307Gln) c.38317A>C (p.Lys12773Gln) c.38314A>C (p.Lys12772Gln) c.35356A>C (p.Lys11786Gln) c.16972A>C (p.Lys5658Gln) c.38467A>C (p.Lys12823Gln) c.38464A>C (p.Lys12822Gln) c.37897A>C (p.Lys12633Gln) c.35239A>C (p.Lys11747Gln) c.35158A>C (p.Lys11720Gln) c.16921A>C (p.Lys5641Gln) c.6775A>C (p.Lys2259Gln) | |
| 2 | g.178630933A>C | CA349646367 | TTN | c.36321T>G (p.Ile12107Met) c.17406T>G (p.Ile5802Met) c.17205T>G (p.Ile5735Met) c.16830T>G (p.Ile5610Met) c.44025T>G (p.Ile14675Met) c.39102T>G (p.Ile13034Met) c.43122T>G (p.Ile14374Met) c.17016T>G (p.Ile5672Met) c.16875T>G (p.Ile5625Met) c.42918T>G (p.Ile14306Met) c.38316T>G (p.Ile12772Met) c.38313T>G (p.Ile12771Met) c.35355T>G (p.Ile11785Met) c.16971T>G (p.Ile5657Met) c.38466T>G (p.Ile12822Met) c.38463T>G (p.Ile12821Met) c.37896T>G (p.Ile12632Met) c.35238T>G (p.Ile11746Met) c.35157T>G (p.Ile11719Met) c.16920T>G (p.Ile5640Met) c.6774T>G (p.Ile2258Met) | |
| 2 | g.178630933A>G | CA430114051 | TTN | c.36321T>C (p.Ile12107=) c.17406T>C (p.Ile5802=) c.17205T>C (p.Ile5735=) c.16830T>C (p.Ile5610=) c.44025T>C (p.Ile14675=) c.39102T>C (p.Ile13034=) c.43122T>C (p.Ile14374=) c.17016T>C (p.Ile5672=) c.16875T>C (p.Ile5625=) c.42918T>C (p.Ile14306=) c.38316T>C (p.Ile12772=) c.38313T>C (p.Ile12771=) c.35355T>C (p.Ile11785=) c.16971T>C (p.Ile5657=) c.38466T>C (p.Ile12822=) c.38463T>C (p.Ile12821=) c.37896T>C (p.Ile12632=) c.35238T>C (p.Ile11746=) c.35157T>C (p.Ile11719=) c.16920T>C (p.Ile5640=) c.6774T>C (p.Ile2258=) | |
| 2 | g.178630933A>T | CA430114052 | TTN | c.36321T>A (p.Ile12107=) c.17406T>A (p.Ile5802=) c.17205T>A (p.Ile5735=) c.16830T>A (p.Ile5610=) c.44025T>A (p.Ile14675=) c.39102T>A (p.Ile13034=) c.43122T>A (p.Ile14374=) c.17016T>A (p.Ile5672=) c.16875T>A (p.Ile5625=) c.42918T>A (p.Ile14306=) c.38316T>A (p.Ile12772=) c.38313T>A (p.Ile12771=) c.35355T>A (p.Ile11785=) c.16971T>A (p.Ile5657=) c.38466T>A (p.Ile12822=) c.38463T>A (p.Ile12821=) c.37896T>A (p.Ile12632=) c.35238T>A (p.Ile11746=) c.35157T>A (p.Ile11719=) c.16920T>A (p.Ile5640=) c.6774T>A (p.Ile2258=) | ClinVar |
| 2 | g.178630934A>C | CA349646369 | TTN | c.36320T>G (p.Ile12107Ser) c.17405T>G (p.Ile5802Ser) c.17204T>G (p.Ile5735Ser) c.16829T>G (p.Ile5610Ser) c.44024T>G (p.Ile14675Ser) c.39101T>G (p.Ile13034Ser) c.43121T>G (p.Ile14374Ser) c.17015T>G (p.Ile5672Ser) c.16874T>G (p.Ile5625Ser) c.42917T>G (p.Ile14306Ser) c.38315T>G (p.Ile12772Ser) c.38312T>G (p.Ile12771Ser) c.35354T>G (p.Ile11785Ser) c.16970T>G (p.Ile5657Ser) c.38465T>G (p.Ile12822Ser) c.38462T>G (p.Ile12821Ser) c.37895T>G (p.Ile12632Ser) c.35237T>G (p.Ile11746Ser) c.35156T>G (p.Ile11719Ser) c.16919T>G (p.Ile5640Ser) c.6773T>G (p.Ile2258Ser) | |
| 2 | g.178630934A>G | CA349646371 | TTN | c.36320T>C (p.Ile12107Thr) c.17405T>C (p.Ile5802Thr) c.17204T>C (p.Ile5735Thr) c.16829T>C (p.Ile5610Thr) c.44024T>C (p.Ile14675Thr) c.39101T>C (p.Ile13034Thr) c.43121T>C (p.Ile14374Thr) c.17015T>C (p.Ile5672Thr) c.16874T>C (p.Ile5625Thr) c.42917T>C (p.Ile14306Thr) c.38315T>C (p.Ile12772Thr) c.38312T>C (p.Ile12771Thr) c.35354T>C (p.Ile11785Thr) c.16970T>C (p.Ile5657Thr) c.38465T>C (p.Ile12822Thr) c.38462T>C (p.Ile12821Thr) c.37895T>C (p.Ile12632Thr) c.35237T>C (p.Ile11746Thr) c.35156T>C (p.Ile11719Thr) c.16919T>C (p.Ile5640Thr) c.6773T>C (p.Ile2258Thr) | gnomAD v4 |
| 2 | g.178630934A>T | CA349646372 | TTN | c.36320T>A (p.Ile12107Asn) c.17405T>A (p.Ile5802Asn) c.17204T>A (p.Ile5735Asn) c.16829T>A (p.Ile5610Asn) c.44024T>A (p.Ile14675Asn) c.39101T>A (p.Ile13034Asn) c.43121T>A (p.Ile14374Asn) c.17015T>A (p.Ile5672Asn) c.16874T>A (p.Ile5625Asn) c.42917T>A (p.Ile14306Asn) c.38315T>A (p.Ile12772Asn) c.38312T>A (p.Ile12771Asn) c.35354T>A (p.Ile11785Asn) c.16970T>A (p.Ile5657Asn) c.38465T>A (p.Ile12822Asn) c.38462T>A (p.Ile12821Asn) c.37895T>A (p.Ile12632Asn) c.35237T>A (p.Ile11746Asn) c.35156T>A (p.Ile11719Asn) c.16919T>A (p.Ile5640Asn) c.6773T>A (p.Ile2258Asn) | |
| 2 | g.178630935T>A | CA349646374 | TTN | c.36319A>T (p.Ile12107Phe) c.17404A>T (p.Ile5802Phe) c.17203A>T (p.Ile5735Phe) c.16828A>T (p.Ile5610Phe) c.44023A>T (p.Ile14675Phe) c.39100A>T (p.Ile13034Phe) c.43120A>T (p.Ile14374Phe) c.17014A>T (p.Ile5672Phe) c.16873A>T (p.Ile5625Phe) c.42916A>T (p.Ile14306Phe) c.38314A>T (p.Ile12772Phe) c.38311A>T (p.Ile12771Phe) c.35353A>T (p.Ile11785Phe) c.16969A>T (p.Ile5657Phe) c.38464A>T (p.Ile12822Phe) c.38461A>T (p.Ile12821Phe) c.37894A>T (p.Ile12632Phe) c.35236A>T (p.Ile11746Phe) c.35155A>T (p.Ile11719Phe) c.16918A>T (p.Ile5640Phe) c.6772A>T (p.Ile2258Phe) | |
| 2 | g.178630935T>C | CA349646376 | TTN | c.36319A>G (p.Ile12107Val) c.17404A>G (p.Ile5802Val) c.17203A>G (p.Ile5735Val) c.16828A>G (p.Ile5610Val) c.44023A>G (p.Ile14675Val) c.39100A>G (p.Ile13034Val) c.43120A>G (p.Ile14374Val) c.17014A>G (p.Ile5672Val) c.16873A>G (p.Ile5625Val) c.42916A>G (p.Ile14306Val) c.38314A>G (p.Ile12772Val) c.38311A>G (p.Ile12771Val) c.35353A>G (p.Ile11785Val) c.16969A>G (p.Ile5657Val) c.38464A>G (p.Ile12822Val) c.38461A>G (p.Ile12821Val) c.37894A>G (p.Ile12632Val) c.35236A>G (p.Ile11746Val) c.35155A>G (p.Ile11719Val) c.16918A>G (p.Ile5640Val) c.6772A>G (p.Ile2258Val) | dbSNP gnomAD v4 |
| 2 | g.178630935T>G | CA349646377 | TTN | c.36319A>C (p.Ile12107Leu) c.17404A>C (p.Ile5802Leu) c.17203A>C (p.Ile5735Leu) c.16828A>C (p.Ile5610Leu) c.44023A>C (p.Ile14675Leu) c.39100A>C (p.Ile13034Leu) c.43120A>C (p.Ile14374Leu) c.17014A>C (p.Ile5672Leu) c.16873A>C (p.Ile5625Leu) c.42916A>C (p.Ile14306Leu) c.38314A>C (p.Ile12772Leu) c.38311A>C (p.Ile12771Leu) c.35353A>C (p.Ile11785Leu) c.16969A>C (p.Ile5657Leu) c.38464A>C (p.Ile12822Leu) c.38461A>C (p.Ile12821Leu) c.37894A>C (p.Ile12632Leu) c.35236A>C (p.Ile11746Leu) c.35155A>C (p.Ile11719Leu) c.16918A>C (p.Ile5640Leu) c.6772A>C (p.Ile2258Leu) | |
| 2 | g.178630935T= | CA1310556158 | TTN | c.36319A= (p.Ile12107=) c.17404A= (p.Ile5802=) c.17203A= (p.Ile5735=) c.16828A= (p.Ile5610=) c.44023A= (p.Ile14675=) c.39100A= (p.Ile13034=) c.43120A= (p.Ile14374=) c.17014A= (p.Ile5672=) c.16873A= (p.Ile5625=) c.42916A= (p.Ile14306=) c.38314A= (p.Ile12772=) c.38311A= (p.Ile12771=) c.35353A= (p.Ile11785=) c.16969A= (p.Ile5657=) c.38464A= (p.Ile12822=) c.38461A= (p.Ile12821=) c.37894A= (p.Ile12632=) c.35236A= (p.Ile11746=) c.35155A= (p.Ile11719=) c.16918A= (p.Ile5640=) c.6772A= (p.Ile2258=) | |
| 2 | g.178630936T>A | CA349646381 | TTN | c.36318A>T (p.Glu12106Asp) c.17403A>T (p.Glu5801Asp) c.17202A>T (p.Glu5734Asp) c.16827A>T (p.Glu5609Asp) c.44022A>T (p.Glu14674Asp) c.39099A>T (p.Glu13033Asp) c.43119A>T (p.Glu14373Asp) c.17013A>T (p.Glu5671Asp) c.16872A>T (p.Glu5624Asp) c.42915A>T (p.Glu14305Asp) c.38313A>T (p.Glu12771Asp) c.38310A>T (p.Glu12770Asp) c.35352A>T (p.Glu11784Asp) c.16968A>T (p.Glu5656Asp) c.38463A>T (p.Glu12821Asp) c.38460A>T (p.Glu12820Asp) c.37893A>T (p.Glu12631Asp) c.35235A>T (p.Glu11745Asp) c.35154A>T (p.Glu11718Asp) c.16917A>T (p.Glu5639Asp) c.6771A>T (p.Glu2257Asp) | |
| 2 | g.178630936T>C | CA430114059 | TTN | c.36318A>G (p.Glu12106=) c.17403A>G (p.Glu5801=) c.17202A>G (p.Glu5734=) c.16827A>G (p.Glu5609=) c.44022A>G (p.Glu14674=) c.39099A>G (p.Glu13033=) c.43119A>G (p.Glu14373=) c.17013A>G (p.Glu5671=) c.16872A>G (p.Glu5624=) c.42915A>G (p.Glu14305=) c.38313A>G (p.Glu12771=) c.38310A>G (p.Glu12770=) c.35352A>G (p.Glu11784=) c.16968A>G (p.Glu5656=) c.38463A>G (p.Glu12821=) c.38460A>G (p.Glu12820=) c.37893A>G (p.Glu12631=) c.35235A>G (p.Glu11745=) c.35154A>G (p.Glu11718=) c.16917A>G (p.Glu5639=) c.6771A>G (p.Glu2257=) | gnomAD v4 |
| 2 | g.178630936T>G | CA349646383 | TTN | c.36318A>C (p.Glu12106Asp) c.17403A>C (p.Glu5801Asp) c.17202A>C (p.Glu5734Asp) c.16827A>C (p.Glu5609Asp) c.44022A>C (p.Glu14674Asp) c.39099A>C (p.Glu13033Asp) c.43119A>C (p.Glu14373Asp) c.17013A>C (p.Glu5671Asp) c.16872A>C (p.Glu5624Asp) c.42915A>C (p.Glu14305Asp) c.38313A>C (p.Glu12771Asp) c.38310A>C (p.Glu12770Asp) c.35352A>C (p.Glu11784Asp) c.16968A>C (p.Glu5656Asp) c.38463A>C (p.Glu12821Asp) c.38460A>C (p.Glu12820Asp) c.37893A>C (p.Glu12631Asp) c.35235A>C (p.Glu11745Asp) c.35154A>C (p.Glu11718Asp) c.16917A>C (p.Glu5639Asp) c.6771A>C (p.Glu2257Asp) |