| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178624496A= | CA1310553523 | TTN | c.37080T= (p.Asp12360=) c.18165T= (p.Asp6055=) c.17964T= (p.Asp5988=) c.17589T= (p.Asp5863=) c.44784T= (p.Asp14928=) c.39861T= (p.Asp13287=) c.43881T= (p.Asp14627=) c.17775T= (p.Asp5925=) c.17634T= (p.Asp5878=) c.43677T= (p.Asp14559=) c.39075T= (p.Asp13025=) c.39072T= (p.Asp13024=) c.36114T= (p.Asp12038=) c.17730T= (p.Asp5910=) c.39225T= (p.Asp13075=) c.39222T= (p.Asp13074=) c.38655T= (p.Asp12885=) c.35997T= (p.Asp11999=) c.35916T= (p.Asp11972=) c.17679T= (p.Asp5893=) c.7533T= (p.Asp2511=) | |
| 2 | g.178624496A>C | CA349640251 | TTN | c.37080T>G (p.Asp12360Glu) c.18165T>G (p.Asp6055Glu) c.17964T>G (p.Asp5988Glu) c.17589T>G (p.Asp5863Glu) c.44784T>G (p.Asp14928Glu) c.39861T>G (p.Asp13287Glu) c.43881T>G (p.Asp14627Glu) c.17775T>G (p.Asp5925Glu) c.17634T>G (p.Asp5878Glu) c.43677T>G (p.Asp14559Glu) c.39075T>G (p.Asp13025Glu) c.39072T>G (p.Asp13024Glu) c.36114T>G (p.Asp12038Glu) c.17730T>G (p.Asp5910Glu) c.39225T>G (p.Asp13075Glu) c.39222T>G (p.Asp13074Glu) c.38655T>G (p.Asp12885Glu) c.35997T>G (p.Asp11999Glu) c.35916T>G (p.Asp11972Glu) c.17679T>G (p.Asp5893Glu) c.7533T>G (p.Asp2511Glu) | |
| 2 | g.178624496A>G | CA181804 | TTN | c.37080T>C (p.Asp12360=) c.18165T>C (p.Asp6055=) c.17964T>C (p.Asp5988=) c.17589T>C (p.Asp5863=) c.44784T>C (p.Asp14928=) c.39861T>C (p.Asp13287=) c.43881T>C (p.Asp14627=) c.17775T>C (p.Asp5925=) c.17634T>C (p.Asp5878=) c.43677T>C (p.Asp14559=) c.39075T>C (p.Asp13025=) c.39072T>C (p.Asp13024=) c.36114T>C (p.Asp12038=) c.17730T>C (p.Asp5910=) c.39225T>C (p.Asp13075=) c.39222T>C (p.Asp13074=) c.38655T>C (p.Asp12885=) c.35997T>C (p.Asp11999=) c.35916T>C (p.Asp11972=) c.17679T>C (p.Asp5893=) c.7533T>C (p.Asp2511=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178624496A>T | CA349640253 | TTN | c.37080T>A (p.Asp12360Glu) c.18165T>A (p.Asp6055Glu) c.17964T>A (p.Asp5988Glu) c.17589T>A (p.Asp5863Glu) c.44784T>A (p.Asp14928Glu) c.39861T>A (p.Asp13287Glu) c.43881T>A (p.Asp14627Glu) c.17775T>A (p.Asp5925Glu) c.17634T>A (p.Asp5878Glu) c.43677T>A (p.Asp14559Glu) c.39075T>A (p.Asp13025Glu) c.39072T>A (p.Asp13024Glu) c.36114T>A (p.Asp12038Glu) c.17730T>A (p.Asp5910Glu) c.39225T>A (p.Asp13075Glu) c.39222T>A (p.Asp13074Glu) c.38655T>A (p.Asp12885Glu) c.35997T>A (p.Asp11999Glu) c.35916T>A (p.Asp11972Glu) c.17679T>A (p.Asp5893Glu) c.7533T>A (p.Asp2511Glu) | |
| 2 | g.178624497T>A | CA349640256 | TTN | c.37079A>T (p.Asp12360Val) c.18164A>T (p.Asp6055Val) c.17963A>T (p.Asp5988Val) c.17588A>T (p.Asp5863Val) c.44783A>T (p.Asp14928Val) c.39860A>T (p.Asp13287Val) c.43880A>T (p.Asp14627Val) c.17774A>T (p.Asp5925Val) c.17633A>T (p.Asp5878Val) c.43676A>T (p.Asp14559Val) c.39074A>T (p.Asp13025Val) c.39071A>T (p.Asp13024Val) c.36113A>T (p.Asp12038Val) c.17729A>T (p.Asp5910Val) c.39224A>T (p.Asp13075Val) c.39221A>T (p.Asp13074Val) c.38654A>T (p.Asp12885Val) c.35996A>T (p.Asp11999Val) c.35915A>T (p.Asp11972Val) c.17678A>T (p.Asp5893Val) c.7532A>T (p.Asp2511Val) | dbSNP gnomAD v4 |
| 2 | g.178624497T>C | CA349640259 | TTN | c.37079A>G (p.Asp12360Gly) c.18164A>G (p.Asp6055Gly) c.17963A>G (p.Asp5988Gly) c.17588A>G (p.Asp5863Gly) c.44783A>G (p.Asp14928Gly) c.39860A>G (p.Asp13287Gly) c.43880A>G (p.Asp14627Gly) c.17774A>G (p.Asp5925Gly) c.17633A>G (p.Asp5878Gly) c.43676A>G (p.Asp14559Gly) c.39074A>G (p.Asp13025Gly) c.39071A>G (p.Asp13024Gly) c.36113A>G (p.Asp12038Gly) c.17729A>G (p.Asp5910Gly) c.39224A>G (p.Asp13075Gly) c.39221A>G (p.Asp13074Gly) c.38654A>G (p.Asp12885Gly) c.35996A>G (p.Asp11999Gly) c.35915A>G (p.Asp11972Gly) c.17678A>G (p.Asp5893Gly) c.7532A>G (p.Asp2511Gly) | |
| 2 | g.178624497T>G | CA349640257 | TTN | c.37079A>C (p.Asp12360Ala) c.18164A>C (p.Asp6055Ala) c.17963A>C (p.Asp5988Ala) c.17588A>C (p.Asp5863Ala) c.44783A>C (p.Asp14928Ala) c.39860A>C (p.Asp13287Ala) c.43880A>C (p.Asp14627Ala) c.17774A>C (p.Asp5925Ala) c.17633A>C (p.Asp5878Ala) c.43676A>C (p.Asp14559Ala) c.39074A>C (p.Asp13025Ala) c.39071A>C (p.Asp13024Ala) c.36113A>C (p.Asp12038Ala) c.17729A>C (p.Asp5910Ala) c.39224A>C (p.Asp13075Ala) c.39221A>C (p.Asp13074Ala) c.38654A>C (p.Asp12885Ala) c.35996A>C (p.Asp11999Ala) c.35915A>C (p.Asp11972Ala) c.17678A>C (p.Asp5893Ala) c.7532A>C (p.Asp2511Ala) | |
| 2 | g.178624497T= | CA1310553524 | TTN | c.37079A= (p.Asp12360=) c.18164A= (p.Asp6055=) c.17963A= (p.Asp5988=) c.17588A= (p.Asp5863=) c.44783A= (p.Asp14928=) c.39860A= (p.Asp13287=) c.43880A= (p.Asp14627=) c.17774A= (p.Asp5925=) c.17633A= (p.Asp5878=) c.43676A= (p.Asp14559=) c.39074A= (p.Asp13025=) c.39071A= (p.Asp13024=) c.36113A= (p.Asp12038=) c.17729A= (p.Asp5910=) c.39224A= (p.Asp13075=) c.39221A= (p.Asp13074=) c.38654A= (p.Asp12885=) c.35996A= (p.Asp11999=) c.35915A= (p.Asp11972=) c.17678A= (p.Asp5893=) c.7532A= (p.Asp2511=) | |
| 2 | g.178624498C>A | CA349640262 | TTN | c.37078G>T (p.Asp12360Tyr) c.18163G>T (p.Asp6055Tyr) c.17962G>T (p.Asp5988Tyr) c.17587G>T (p.Asp5863Tyr) c.44782G>T (p.Asp14928Tyr) c.39859G>T (p.Asp13287Tyr) c.43879G>T (p.Asp14627Tyr) c.17773G>T (p.Asp5925Tyr) c.17632G>T (p.Asp5878Tyr) c.43675G>T (p.Asp14559Tyr) c.39073G>T (p.Asp13025Tyr) c.39070G>T (p.Asp13024Tyr) c.36112G>T (p.Asp12038Tyr) c.17728G>T (p.Asp5910Tyr) c.39223G>T (p.Asp13075Tyr) c.39220G>T (p.Asp13074Tyr) c.38653G>T (p.Asp12885Tyr) c.35995G>T (p.Asp11999Tyr) c.35914G>T (p.Asp11972Tyr) c.17677G>T (p.Asp5893Tyr) c.7531G>T (p.Asp2511Tyr) | |
| 2 | g.178624498C= | CA1310553525 | TTN | c.37078G= (p.Asp12360=) c.18163G= (p.Asp6055=) c.17962G= (p.Asp5988=) c.17587G= (p.Asp5863=) c.44782G= (p.Asp14928=) c.39859G= (p.Asp13287=) c.43879G= (p.Asp14627=) c.17773G= (p.Asp5925=) c.17632G= (p.Asp5878=) c.43675G= (p.Asp14559=) c.39073G= (p.Asp13025=) c.39070G= (p.Asp13024=) c.36112G= (p.Asp12038=) c.17728G= (p.Asp5910=) c.39223G= (p.Asp13075=) c.39220G= (p.Asp13074=) c.38653G= (p.Asp12885=) c.35995G= (p.Asp11999=) c.35914G= (p.Asp11972=) c.17677G= (p.Asp5893=) c.7531G= (p.Asp2511=) | |
| 2 | g.178624498C>G | CA349640263 | TTN | c.37078G>C (p.Asp12360His) c.18163G>C (p.Asp6055His) c.17962G>C (p.Asp5988His) c.17587G>C (p.Asp5863His) c.44782G>C (p.Asp14928His) c.39859G>C (p.Asp13287His) c.43879G>C (p.Asp14627His) c.17773G>C (p.Asp5925His) c.17632G>C (p.Asp5878His) c.43675G>C (p.Asp14559His) c.39073G>C (p.Asp13025His) c.39070G>C (p.Asp13024His) c.36112G>C (p.Asp12038His) c.17728G>C (p.Asp5910His) c.39223G>C (p.Asp13075His) c.39220G>C (p.Asp13074His) c.38653G>C (p.Asp12885His) c.35995G>C (p.Asp11999His) c.35914G>C (p.Asp11972His) c.17677G>C (p.Asp5893His) c.7531G>C (p.Asp2511His) | |
| 2 | g.178624498C>T | CA1995578 | TTN | c.37078G>A (p.Asp12360Asn) c.18163G>A (p.Asp6055Asn) c.17962G>A (p.Asp5988Asn) c.17587G>A (p.Asp5863Asn) c.44782G>A (p.Asp14928Asn) c.39859G>A (p.Asp13287Asn) c.43879G>A (p.Asp14627Asn) c.17773G>A (p.Asp5925Asn) c.17632G>A (p.Asp5878Asn) c.43675G>A (p.Asp14559Asn) c.39073G>A (p.Asp13025Asn) c.39070G>A (p.Asp13024Asn) c.36112G>A (p.Asp12038Asn) c.17728G>A (p.Asp5910Asn) c.39223G>A (p.Asp13075Asn) c.39220G>A (p.Asp13074Asn) c.38653G>A (p.Asp12885Asn) c.35995G>A (p.Asp11999Asn) c.35914G>A (p.Asp11972Asn) c.17677G>A (p.Asp5893Asn) c.7531G>A (p.Asp2511Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.178624499del | CA2662135133 | TTN | c.37078del (p.Asp12360IlefsTer8) c.18163del (p.Asp6055IlefsTer8) c.17962del (p.Asp5988IlefsTer8) c.17587del (p.Asp5863IlefsTer8) c.44782del (p.Asp14928IlefsTer8) c.39859del (p.Asp13287IlefsTer8) c.43879del (p.Asp14627IlefsTer8) c.17773del (p.Asp5925IlefsTer8) c.17632del (p.Asp5878IlefsTer8) c.43675del (p.Asp14559IlefsTer8) c.39073del (p.Asp13025IlefsTer8) c.39070del (p.Asp13024IlefsTer8) c.36112del (p.Asp12038IlefsTer8) c.17728del (p.Asp5910IlefsTer8) c.39223del (p.Asp13075IlefsTer8) c.39220del (p.Asp13074IlefsTer8) c.38653del (p.Asp12885IlefsTer8) c.35995del (p.Asp11999IlefsTer8) c.35914del (p.Asp11972IlefsTer8) c.17677del (p.Asp5893IlefsTer8) c.7531del (p.Asp2511IlefsTer8) | gnomAD v4 |
| 2 | g.178624499C>A | CA349640266 | TTN | c.37077G>T (p.Lys12359Asn) c.18162G>T (p.Lys6054Asn) c.17961G>T (p.Lys5987Asn) c.17586G>T (p.Lys5862Asn) c.44781G>T (p.Lys14927Asn) c.39858G>T (p.Lys13286Asn) c.43878G>T (p.Lys14626Asn) c.17772G>T (p.Lys5924Asn) c.17631G>T (p.Lys5877Asn) c.43674G>T (p.Lys14558Asn) c.39072G>T (p.Lys13024Asn) c.39069G>T (p.Lys13023Asn) c.36111G>T (p.Lys12037Asn) c.17727G>T (p.Lys5909Asn) c.39222G>T (p.Lys13074Asn) c.39219G>T (p.Lys13073Asn) c.38652G>T (p.Lys12884Asn) c.35994G>T (p.Lys11998Asn) c.35913G>T (p.Lys11971Asn) c.17676G>T (p.Lys5892Asn) c.7530G>T (p.Lys2510Asn) | |
| 2 | g.178624499C= | CA1310553526 | TTN | c.37077G= (p.Lys12359=) c.18162G= (p.Lys6054=) c.17961G= (p.Lys5987=) c.17586G= (p.Lys5862=) c.44781G= (p.Lys14927=) c.39858G= (p.Lys13286=) c.43878G= (p.Lys14626=) c.17772G= (p.Lys5924=) c.17631G= (p.Lys5877=) c.43674G= (p.Lys14558=) c.39072G= (p.Lys13024=) c.39069G= (p.Lys13023=) c.36111G= (p.Lys12037=) c.17727G= (p.Lys5909=) c.39222G= (p.Lys13074=) c.39219G= (p.Lys13073=) c.38652G= (p.Lys12884=) c.35994G= (p.Lys11998=) c.35913G= (p.Lys11971=) c.17676G= (p.Lys5892=) c.7530G= (p.Lys2510=) | |
| 2 | g.178624499C>G | CA349640267 | TTN | c.37077G>C (p.Lys12359Asn) c.18162G>C (p.Lys6054Asn) c.17961G>C (p.Lys5987Asn) c.17586G>C (p.Lys5862Asn) c.44781G>C (p.Lys14927Asn) c.39858G>C (p.Lys13286Asn) c.43878G>C (p.Lys14626Asn) c.17772G>C (p.Lys5924Asn) c.17631G>C (p.Lys5877Asn) c.43674G>C (p.Lys14558Asn) c.39072G>C (p.Lys13024Asn) c.39069G>C (p.Lys13023Asn) c.36111G>C (p.Lys12037Asn) c.17727G>C (p.Lys5909Asn) c.39222G>C (p.Lys13074Asn) c.39219G>C (p.Lys13073Asn) c.38652G>C (p.Lys12884Asn) c.35994G>C (p.Lys11998Asn) c.35913G>C (p.Lys11971Asn) c.17676G>C (p.Lys5892Asn) c.7530G>C (p.Lys2510Asn) | |
| 2 | g.178624499C>T | CA430275930 | TTN | c.37077G>A (p.Lys12359=) c.18162G>A (p.Lys6054=) c.17961G>A (p.Lys5987=) c.17586G>A (p.Lys5862=) c.44781G>A (p.Lys14927=) c.39858G>A (p.Lys13286=) c.43878G>A (p.Lys14626=) c.17772G>A (p.Lys5924=) c.17631G>A (p.Lys5877=) c.43674G>A (p.Lys14558=) c.39072G>A (p.Lys13024=) c.39069G>A (p.Lys13023=) c.36111G>A (p.Lys12037=) c.17727G>A (p.Lys5909=) c.39222G>A (p.Lys13074=) c.39219G>A (p.Lys13073=) c.38652G>A (p.Lys12884=) c.35994G>A (p.Lys11998=) c.35913G>A (p.Lys11971=) c.17676G>A (p.Lys5892=) c.7530G>A (p.Lys2510=) | dbSNP |
| 2 | g.178624500T>A | CA349640269 | TTN | c.37076A>T (p.Lys12359Met) c.18161A>T (p.Lys6054Met) c.17960A>T (p.Lys5987Met) c.17585A>T (p.Lys5862Met) c.44780A>T (p.Lys14927Met) c.39857A>T (p.Lys13286Met) c.43877A>T (p.Lys14626Met) c.17771A>T (p.Lys5924Met) c.17630A>T (p.Lys5877Met) c.43673A>T (p.Lys14558Met) c.39071A>T (p.Lys13024Met) c.39068A>T (p.Lys13023Met) c.36110A>T (p.Lys12037Met) c.17726A>T (p.Lys5909Met) c.39221A>T (p.Lys13074Met) c.39218A>T (p.Lys13073Met) c.38651A>T (p.Lys12884Met) c.35993A>T (p.Lys11998Met) c.35912A>T (p.Lys11971Met) c.17675A>T (p.Lys5892Met) c.7529A>T (p.Lys2510Met) | |
| 2 | g.178624500T>C | CA349640271 | TTN | c.37076A>G (p.Lys12359Arg) c.18161A>G (p.Lys6054Arg) c.17960A>G (p.Lys5987Arg) c.17585A>G (p.Lys5862Arg) c.44780A>G (p.Lys14927Arg) c.39857A>G (p.Lys13286Arg) c.43877A>G (p.Lys14626Arg) c.17771A>G (p.Lys5924Arg) c.17630A>G (p.Lys5877Arg) c.43673A>G (p.Lys14558Arg) c.39071A>G (p.Lys13024Arg) c.39068A>G (p.Lys13023Arg) c.36110A>G (p.Lys12037Arg) c.17726A>G (p.Lys5909Arg) c.39221A>G (p.Lys13074Arg) c.39218A>G (p.Lys13073Arg) c.38651A>G (p.Lys12884Arg) c.35993A>G (p.Lys11998Arg) c.35912A>G (p.Lys11971Arg) c.17675A>G (p.Lys5892Arg) c.7529A>G (p.Lys2510Arg) | |
| 2 | g.178624500T>G | CA349640273 | TTN | c.37076A>C (p.Lys12359Thr) c.18161A>C (p.Lys6054Thr) c.17960A>C (p.Lys5987Thr) c.17585A>C (p.Lys5862Thr) c.44780A>C (p.Lys14927Thr) c.39857A>C (p.Lys13286Thr) c.43877A>C (p.Lys14626Thr) c.17771A>C (p.Lys5924Thr) c.17630A>C (p.Lys5877Thr) c.43673A>C (p.Lys14558Thr) c.39071A>C (p.Lys13024Thr) c.39068A>C (p.Lys13023Thr) c.36110A>C (p.Lys12037Thr) c.17726A>C (p.Lys5909Thr) c.39221A>C (p.Lys13074Thr) c.39218A>C (p.Lys13073Thr) c.38651A>C (p.Lys12884Thr) c.35993A>C (p.Lys11998Thr) c.35912A>C (p.Lys11971Thr) c.17675A>C (p.Lys5892Thr) c.7529A>C (p.Lys2510Thr) | |
| 2 | g.178624501T>A | CA349640277 | TTN | c.37075A>T (p.Lys12359Ter) c.18160A>T (p.Lys6054Ter) c.17959A>T (p.Lys5987Ter) c.17584A>T (p.Lys5862Ter) c.44779A>T (p.Lys14927Ter) c.39856A>T (p.Lys13286Ter) c.43876A>T (p.Lys14626Ter) c.17770A>T (p.Lys5924Ter) c.17629A>T (p.Lys5877Ter) c.43672A>T (p.Lys14558Ter) c.39070A>T (p.Lys13024Ter) c.39067A>T (p.Lys13023Ter) c.36109A>T (p.Lys12037Ter) c.17725A>T (p.Lys5909Ter) c.39220A>T (p.Lys13074Ter) c.39217A>T (p.Lys13073Ter) c.38650A>T (p.Lys12884Ter) c.35992A>T (p.Lys11998Ter) c.35911A>T (p.Lys11971Ter) c.17674A>T (p.Lys5892Ter) c.7528A>T (p.Lys2510Ter) | |
| 2 | g.178624501T>C | CA60996712 | TTN | c.37075A>G (p.Lys12359Glu) c.18160A>G (p.Lys6054Glu) c.17959A>G (p.Lys5987Glu) c.17584A>G (p.Lys5862Glu) c.44779A>G (p.Lys14927Glu) c.39856A>G (p.Lys13286Glu) c.43876A>G (p.Lys14626Glu) c.17770A>G (p.Lys5924Glu) c.17629A>G (p.Lys5877Glu) c.43672A>G (p.Lys14558Glu) c.39070A>G (p.Lys13024Glu) c.39067A>G (p.Lys13023Glu) c.36109A>G (p.Lys12037Glu) c.17725A>G (p.Lys5909Glu) c.39220A>G (p.Lys13074Glu) c.39217A>G (p.Lys13073Glu) c.38650A>G (p.Lys12884Glu) c.35992A>G (p.Lys11998Glu) c.35911A>G (p.Lys11971Glu) c.17674A>G (p.Lys5892Glu) c.7528A>G (p.Lys2510Glu) | dbSNP |
| 2 | g.178624501T>G | CA349640280 | TTN | c.37075A>C (p.Lys12359Gln) c.18160A>C (p.Lys6054Gln) c.17959A>C (p.Lys5987Gln) c.17584A>C (p.Lys5862Gln) c.44779A>C (p.Lys14927Gln) c.39856A>C (p.Lys13286Gln) c.43876A>C (p.Lys14626Gln) c.17770A>C (p.Lys5924Gln) c.17629A>C (p.Lys5877Gln) c.43672A>C (p.Lys14558Gln) c.39070A>C (p.Lys13024Gln) c.39067A>C (p.Lys13023Gln) c.36109A>C (p.Lys12037Gln) c.17725A>C (p.Lys5909Gln) c.39220A>C (p.Lys13074Gln) c.39217A>C (p.Lys13073Gln) c.38650A>C (p.Lys12884Gln) c.35992A>C (p.Lys11998Gln) c.35911A>C (p.Lys11971Gln) c.17674A>C (p.Lys5892Gln) c.7528A>C (p.Lys2510Gln) | |
| 2 | g.178624501T= | CA1310553527 | TTN | c.37075A= (p.Lys12359=) c.18160A= (p.Lys6054=) c.17959A= (p.Lys5987=) c.17584A= (p.Lys5862=) c.44779A= (p.Lys14927=) c.39856A= (p.Lys13286=) c.43876A= (p.Lys14626=) c.17770A= (p.Lys5924=) c.17629A= (p.Lys5877=) c.43672A= (p.Lys14558=) c.39070A= (p.Lys13024=) c.39067A= (p.Lys13023=) c.36109A= (p.Lys12037=) c.17725A= (p.Lys5909=) c.39220A= (p.Lys13074=) c.39217A= (p.Lys13073=) c.38650A= (p.Lys12884=) c.35992A= (p.Lys11998=) c.35911A= (p.Lys11971=) c.17674A= (p.Lys5892=) c.7528A= (p.Lys2510=) | |
| 2 | g.178624502A= | CA1310553528 | TTN | c.37074T= (p.Ala12358=) c.18159T= (p.Ala6053=) c.17958T= (p.Ala5986=) c.17583T= (p.Ala5861=) c.44778T= (p.Ala14926=) c.39855T= (p.Ala13285=) c.43875T= (p.Ala14625=) c.17769T= (p.Ala5923=) c.17628T= (p.Ala5876=) c.43671T= (p.Ala14557=) c.39069T= (p.Ala13023=) c.39066T= (p.Ala13022=) c.36108T= (p.Ala12036=) c.17724T= (p.Ala5908=) c.39219T= (p.Ala13073=) c.39216T= (p.Ala13072=) c.38649T= (p.Ala12883=) c.35991T= (p.Ala11997=) c.35910T= (p.Ala11970=) c.17673T= (p.Ala5891=) c.7527T= (p.Ala2509=) | |
| 2 | g.178624502A>C | CA430275938 | TTN | c.37074T>G (p.Ala12358=) c.18159T>G (p.Ala6053=) c.17958T>G (p.Ala5986=) c.17583T>G (p.Ala5861=) c.44778T>G (p.Ala14926=) c.39855T>G (p.Ala13285=) c.43875T>G (p.Ala14625=) c.17769T>G (p.Ala5923=) c.17628T>G (p.Ala5876=) c.43671T>G (p.Ala14557=) c.39069T>G (p.Ala13023=) c.39066T>G (p.Ala13022=) c.36108T>G (p.Ala12036=) c.17724T>G (p.Ala5908=) c.39219T>G (p.Ala13073=) c.39216T>G (p.Ala13072=) c.38649T>G (p.Ala12883=) c.35991T>G (p.Ala11997=) c.35910T>G (p.Ala11970=) c.17673T>G (p.Ala5891=) c.7527T>G (p.Ala2509=) | |
| 2 | g.178624502A>G | CA430275939 | TTN | c.37074T>C (p.Ala12358=) c.18159T>C (p.Ala6053=) c.17958T>C (p.Ala5986=) c.17583T>C (p.Ala5861=) c.44778T>C (p.Ala14926=) c.39855T>C (p.Ala13285=) c.43875T>C (p.Ala14625=) c.17769T>C (p.Ala5923=) c.17628T>C (p.Ala5876=) c.43671T>C (p.Ala14557=) c.39069T>C (p.Ala13023=) c.39066T>C (p.Ala13022=) c.36108T>C (p.Ala12036=) c.17724T>C (p.Ala5908=) c.39219T>C (p.Ala13073=) c.39216T>C (p.Ala13072=) c.38649T>C (p.Ala12883=) c.35991T>C (p.Ala11997=) c.35910T>C (p.Ala11970=) c.17673T>C (p.Ala5891=) c.7527T>C (p.Ala2509=) | ClinVar |
| 2 | g.178624502A>T | CA60996714 | TTN | c.37074T>A (p.Ala12358=) c.18159T>A (p.Ala6053=) c.17958T>A (p.Ala5986=) c.17583T>A (p.Ala5861=) c.44778T>A (p.Ala14926=) c.39855T>A (p.Ala13285=) c.43875T>A (p.Ala14625=) c.17769T>A (p.Ala5923=) c.17628T>A (p.Ala5876=) c.43671T>A (p.Ala14557=) c.39069T>A (p.Ala13023=) c.39066T>A (p.Ala13022=) c.36108T>A (p.Ala12036=) c.17724T>A (p.Ala5908=) c.39219T>A (p.Ala13073=) c.39216T>A (p.Ala13072=) c.38649T>A (p.Ala12883=) c.35991T>A (p.Ala11997=) c.35910T>A (p.Ala11970=) c.17673T>A (p.Ala5891=) c.7527T>A (p.Ala2509=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.178624503G>A | CA349640287 | TTN | c.37073C>T (p.Ala12358Val) c.18158C>T (p.Ala6053Val) c.17957C>T (p.Ala5986Val) c.17582C>T (p.Ala5861Val) c.44777C>T (p.Ala14926Val) c.39854C>T (p.Ala13285Val) c.43874C>T (p.Ala14625Val) c.17768C>T (p.Ala5923Val) c.17627C>T (p.Ala5876Val) c.43670C>T (p.Ala14557Val) c.39068C>T (p.Ala13023Val) c.39065C>T (p.Ala13022Val) c.36107C>T (p.Ala12036Val) c.17723C>T (p.Ala5908Val) c.39218C>T (p.Ala13073Val) c.39215C>T (p.Ala13072Val) c.38648C>T (p.Ala12883Val) c.35990C>T (p.Ala11997Val) c.35909C>T (p.Ala11970Val) c.17672C>T (p.Ala5891Val) c.7526C>T (p.Ala2509Val) | gnomAD v4 |
| 2 | g.178624503G>C | CA349640284 | TTN | c.37073C>G (p.Ala12358Gly) c.18158C>G (p.Ala6053Gly) c.17957C>G (p.Ala5986Gly) c.17582C>G (p.Ala5861Gly) c.44777C>G (p.Ala14926Gly) c.39854C>G (p.Ala13285Gly) c.43874C>G (p.Ala14625Gly) c.17768C>G (p.Ala5923Gly) c.17627C>G (p.Ala5876Gly) c.43670C>G (p.Ala14557Gly) c.39068C>G (p.Ala13023Gly) c.39065C>G (p.Ala13022Gly) c.36107C>G (p.Ala12036Gly) c.17723C>G (p.Ala5908Gly) c.39218C>G (p.Ala13073Gly) c.39215C>G (p.Ala13072Gly) c.38648C>G (p.Ala12883Gly) c.35990C>G (p.Ala11997Gly) c.35909C>G (p.Ala11970Gly) c.17672C>G (p.Ala5891Gly) c.7526C>G (p.Ala2509Gly) | |
| 2 | g.178624503G>T | CA349640289 | TTN | c.37073C>A (p.Ala12358Asp) c.18158C>A (p.Ala6053Asp) c.17957C>A (p.Ala5986Asp) c.17582C>A (p.Ala5861Asp) c.44777C>A (p.Ala14926Asp) c.39854C>A (p.Ala13285Asp) c.43874C>A (p.Ala14625Asp) c.17768C>A (p.Ala5923Asp) c.17627C>A (p.Ala5876Asp) c.43670C>A (p.Ala14557Asp) c.39068C>A (p.Ala13023Asp) c.39065C>A (p.Ala13022Asp) c.36107C>A (p.Ala12036Asp) c.17723C>A (p.Ala5908Asp) c.39218C>A (p.Ala13073Asp) c.39215C>A (p.Ala13072Asp) c.38648C>A (p.Ala12883Asp) c.35990C>A (p.Ala11997Asp) c.35909C>A (p.Ala11970Asp) c.17672C>A (p.Ala5891Asp) c.7526C>A (p.Ala2509Asp) | |
| 2 | g.178624504C>A | CA349640292 | TTN | c.37072G>T (p.Ala12358Ser) c.18157G>T (p.Ala6053Ser) c.17956G>T (p.Ala5986Ser) c.17581G>T (p.Ala5861Ser) c.44776G>T (p.Ala14926Ser) c.39853G>T (p.Ala13285Ser) c.43873G>T (p.Ala14625Ser) c.17767G>T (p.Ala5923Ser) c.17626G>T (p.Ala5876Ser) c.43669G>T (p.Ala14557Ser) c.39067G>T (p.Ala13023Ser) c.39064G>T (p.Ala13022Ser) c.36106G>T (p.Ala12036Ser) c.17722G>T (p.Ala5908Ser) c.39217G>T (p.Ala13073Ser) c.39214G>T (p.Ala13072Ser) c.38647G>T (p.Ala12883Ser) c.35989G>T (p.Ala11997Ser) c.35908G>T (p.Ala11970Ser) c.17671G>T (p.Ala5891Ser) c.7525G>T (p.Ala2509Ser) | |
| 2 | g.178624504C>G | CA349640296 | TTN | c.37072G>C (p.Ala12358Pro) c.18157G>C (p.Ala6053Pro) c.17956G>C (p.Ala5986Pro) c.17581G>C (p.Ala5861Pro) c.44776G>C (p.Ala14926Pro) c.39853G>C (p.Ala13285Pro) c.43873G>C (p.Ala14625Pro) c.17767G>C (p.Ala5923Pro) c.17626G>C (p.Ala5876Pro) c.43669G>C (p.Ala14557Pro) c.39067G>C (p.Ala13023Pro) c.39064G>C (p.Ala13022Pro) c.36106G>C (p.Ala12036Pro) c.17722G>C (p.Ala5908Pro) c.39217G>C (p.Ala13073Pro) c.39214G>C (p.Ala13072Pro) c.38647G>C (p.Ala12883Pro) c.35989G>C (p.Ala11997Pro) c.35908G>C (p.Ala11970Pro) c.17671G>C (p.Ala5891Pro) c.7525G>C (p.Ala2509Pro) | |
| 2 | g.178624504C>T | CA349640294 | TTN | c.37072G>A (p.Ala12358Thr) c.18157G>A (p.Ala6053Thr) c.17956G>A (p.Ala5986Thr) c.17581G>A (p.Ala5861Thr) c.44776G>A (p.Ala14926Thr) c.39853G>A (p.Ala13285Thr) c.43873G>A (p.Ala14625Thr) c.17767G>A (p.Ala5923Thr) c.17626G>A (p.Ala5876Thr) c.43669G>A (p.Ala14557Thr) c.39067G>A (p.Ala13023Thr) c.39064G>A (p.Ala13022Thr) c.36106G>A (p.Ala12036Thr) c.17722G>A (p.Ala5908Thr) c.39217G>A (p.Ala13073Thr) c.39214G>A (p.Ala13072Thr) c.38647G>A (p.Ala12883Thr) c.35989G>A (p.Ala11997Thr) c.35908G>A (p.Ala11970Thr) c.17671G>A (p.Ala5891Thr) c.7525G>A (p.Ala2509Thr) | |
| 2 | g.178624505A= | CA1310553529 | TTN | c.37071T= (p.Asp12357=) c.18156T= (p.Asp6052=) c.17955T= (p.Asp5985=) c.17580T= (p.Asp5860=) c.44775T= (p.Asp14925=) c.39852T= (p.Asp13284=) c.43872T= (p.Asp14624=) c.17766T= (p.Asp5922=) c.17625T= (p.Asp5875=) c.43668T= (p.Asp14556=) c.39066T= (p.Asp13022=) c.39063T= (p.Asp13021=) c.36105T= (p.Asp12035=) c.17721T= (p.Asp5907=) c.39216T= (p.Asp13072=) c.39213T= (p.Asp13071=) c.38646T= (p.Asp12882=) c.35988T= (p.Asp11996=) c.35907T= (p.Asp11969=) c.17670T= (p.Asp5890=) c.7524T= (p.Asp2508=) | |
| 2 | g.178624505A>C | CA349640298 | TTN | c.37071T>G (p.Asp12357Glu) c.18156T>G (p.Asp6052Glu) c.17955T>G (p.Asp5985Glu) c.17580T>G (p.Asp5860Glu) c.44775T>G (p.Asp14925Glu) c.39852T>G (p.Asp13284Glu) c.43872T>G (p.Asp14624Glu) c.17766T>G (p.Asp5922Glu) c.17625T>G (p.Asp5875Glu) c.43668T>G (p.Asp14556Glu) c.39066T>G (p.Asp13022Glu) c.39063T>G (p.Asp13021Glu) c.36105T>G (p.Asp12035Glu) c.17721T>G (p.Asp5907Glu) c.39216T>G (p.Asp13072Glu) c.39213T>G (p.Asp13071Glu) c.38646T>G (p.Asp12882Glu) c.35988T>G (p.Asp11996Glu) c.35907T>G (p.Asp11969Glu) c.17670T>G (p.Asp5890Glu) c.7524T>G (p.Asp2508Glu) | |
| 2 | g.178624505A>G | CA60996719 | TTN | c.37071T>C (p.Asp12357=) c.18156T>C (p.Asp6052=) c.17955T>C (p.Asp5985=) c.17580T>C (p.Asp5860=) c.44775T>C (p.Asp14925=) c.39852T>C (p.Asp13284=) c.43872T>C (p.Asp14624=) c.17766T>C (p.Asp5922=) c.17625T>C (p.Asp5875=) c.43668T>C (p.Asp14556=) c.39066T>C (p.Asp13022=) c.39063T>C (p.Asp13021=) c.36105T>C (p.Asp12035=) c.17721T>C (p.Asp5907=) c.39216T>C (p.Asp13072=) c.39213T>C (p.Asp13071=) c.38646T>C (p.Asp12882=) c.35988T>C (p.Asp11996=) c.35907T>C (p.Asp11969=) c.17670T>C (p.Asp5890=) c.7524T>C (p.Asp2508=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178624505A>T | CA349640301 | TTN | c.37071T>A (p.Asp12357Glu) c.18156T>A (p.Asp6052Glu) c.17955T>A (p.Asp5985Glu) c.17580T>A (p.Asp5860Glu) c.44775T>A (p.Asp14925Glu) c.39852T>A (p.Asp13284Glu) c.43872T>A (p.Asp14624Glu) c.17766T>A (p.Asp5922Glu) c.17625T>A (p.Asp5875Glu) c.43668T>A (p.Asp14556Glu) c.39066T>A (p.Asp13022Glu) c.39063T>A (p.Asp13021Glu) c.36105T>A (p.Asp12035Glu) c.17721T>A (p.Asp5907Glu) c.39216T>A (p.Asp13072Glu) c.39213T>A (p.Asp13071Glu) c.38646T>A (p.Asp12882Glu) c.35988T>A (p.Asp11996Glu) c.35907T>A (p.Asp11969Glu) c.17670T>A (p.Asp5890Glu) c.7524T>A (p.Asp2508Glu) | |
| 2 | g.178624506T>A | CA349640303 | TTN | c.37070A>T (p.Asp12357Val) c.18155A>T (p.Asp6052Val) c.17954A>T (p.Asp5985Val) c.17579A>T (p.Asp5860Val) c.44774A>T (p.Asp14925Val) c.39851A>T (p.Asp13284Val) c.43871A>T (p.Asp14624Val) c.17765A>T (p.Asp5922Val) c.17624A>T (p.Asp5875Val) c.43667A>T (p.Asp14556Val) c.39065A>T (p.Asp13022Val) c.39062A>T (p.Asp13021Val) c.36104A>T (p.Asp12035Val) c.17720A>T (p.Asp5907Val) c.39215A>T (p.Asp13072Val) c.39212A>T (p.Asp13071Val) c.38645A>T (p.Asp12882Val) c.35987A>T (p.Asp11996Val) c.35906A>T (p.Asp11969Val) c.17669A>T (p.Asp5890Val) c.7523A>T (p.Asp2508Val) | |
| 2 | g.178624506T>C | CA1995579 | TTN | c.37070A>G (p.Asp12357Gly) c.18155A>G (p.Asp6052Gly) c.17954A>G (p.Asp5985Gly) c.17579A>G (p.Asp5860Gly) c.44774A>G (p.Asp14925Gly) c.39851A>G (p.Asp13284Gly) c.43871A>G (p.Asp14624Gly) c.17765A>G (p.Asp5922Gly) c.17624A>G (p.Asp5875Gly) c.43667A>G (p.Asp14556Gly) c.39065A>G (p.Asp13022Gly) c.39062A>G (p.Asp13021Gly) c.36104A>G (p.Asp12035Gly) c.17720A>G (p.Asp5907Gly) c.39215A>G (p.Asp13072Gly) c.39212A>G (p.Asp13071Gly) c.38645A>G (p.Asp12882Gly) c.35987A>G (p.Asp11996Gly) c.35906A>G (p.Asp11969Gly) c.17669A>G (p.Asp5890Gly) c.7523A>G (p.Asp2508Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178624506T>G | CA349640304 | TTN | c.37070A>C (p.Asp12357Ala) c.18155A>C (p.Asp6052Ala) c.17954A>C (p.Asp5985Ala) c.17579A>C (p.Asp5860Ala) c.44774A>C (p.Asp14925Ala) c.39851A>C (p.Asp13284Ala) c.43871A>C (p.Asp14624Ala) c.17765A>C (p.Asp5922Ala) c.17624A>C (p.Asp5875Ala) c.43667A>C (p.Asp14556Ala) c.39065A>C (p.Asp13022Ala) c.39062A>C (p.Asp13021Ala) c.36104A>C (p.Asp12035Ala) c.17720A>C (p.Asp5907Ala) c.39215A>C (p.Asp13072Ala) c.39212A>C (p.Asp13071Ala) c.38645A>C (p.Asp12882Ala) c.35987A>C (p.Asp11996Ala) c.35906A>C (p.Asp11969Ala) c.17669A>C (p.Asp5890Ala) c.7523A>C (p.Asp2508Ala) | |
| 2 | g.178624506T= | CA1310553530 | TTN | c.37070A= (p.Asp12357=) c.18155A= (p.Asp6052=) c.17954A= (p.Asp5985=) c.17579A= (p.Asp5860=) c.44774A= (p.Asp14925=) c.39851A= (p.Asp13284=) c.43871A= (p.Asp14624=) c.17765A= (p.Asp5922=) c.17624A= (p.Asp5875=) c.43667A= (p.Asp14556=) c.39065A= (p.Asp13022=) c.39062A= (p.Asp13021=) c.36104A= (p.Asp12035=) c.17720A= (p.Asp5907=) c.39215A= (p.Asp13072=) c.39212A= (p.Asp13071=) c.38645A= (p.Asp12882=) c.35987A= (p.Asp11996=) c.35906A= (p.Asp11969=) c.17669A= (p.Asp5890=) c.7523A= (p.Asp2508=) | |
| 2 | g.178624507C>A | CA349640306 | TTN | c.37069G>T (p.Asp12357Tyr) c.18154G>T (p.Asp6052Tyr) c.17953G>T (p.Asp5985Tyr) c.17578G>T (p.Asp5860Tyr) c.44773G>T (p.Asp14925Tyr) c.39850G>T (p.Asp13284Tyr) c.43870G>T (p.Asp14624Tyr) c.17764G>T (p.Asp5922Tyr) c.17623G>T (p.Asp5875Tyr) c.43666G>T (p.Asp14556Tyr) c.39064G>T (p.Asp13022Tyr) c.39061G>T (p.Asp13021Tyr) c.36103G>T (p.Asp12035Tyr) c.17719G>T (p.Asp5907Tyr) c.39214G>T (p.Asp13072Tyr) c.39211G>T (p.Asp13071Tyr) c.38644G>T (p.Asp12882Tyr) c.35986G>T (p.Asp11996Tyr) c.35905G>T (p.Asp11969Tyr) c.17668G>T (p.Asp5890Tyr) c.7522G>T (p.Asp2508Tyr) | |
| 2 | g.178624507C>G | CA349640308 | TTN | c.37069G>C (p.Asp12357His) c.18154G>C (p.Asp6052His) c.17953G>C (p.Asp5985His) c.17578G>C (p.Asp5860His) c.44773G>C (p.Asp14925His) c.39850G>C (p.Asp13284His) c.43870G>C (p.Asp14624His) c.17764G>C (p.Asp5922His) c.17623G>C (p.Asp5875His) c.43666G>C (p.Asp14556His) c.39064G>C (p.Asp13022His) c.39061G>C (p.Asp13021His) c.36103G>C (p.Asp12035His) c.17719G>C (p.Asp5907His) c.39214G>C (p.Asp13072His) c.39211G>C (p.Asp13071His) c.38644G>C (p.Asp12882His) c.35986G>C (p.Asp11996His) c.35905G>C (p.Asp11969His) c.17668G>C (p.Asp5890His) c.7522G>C (p.Asp2508His) | |
| 2 | g.178624507C>T | CA349640310 | TTN | c.37069G>A (p.Asp12357Asn) c.18154G>A (p.Asp6052Asn) c.17953G>A (p.Asp5985Asn) c.17578G>A (p.Asp5860Asn) c.44773G>A (p.Asp14925Asn) c.39850G>A (p.Asp13284Asn) c.43870G>A (p.Asp14624Asn) c.17764G>A (p.Asp5922Asn) c.17623G>A (p.Asp5875Asn) c.43666G>A (p.Asp14556Asn) c.39064G>A (p.Asp13022Asn) c.39061G>A (p.Asp13021Asn) c.36103G>A (p.Asp12035Asn) c.17719G>A (p.Asp5907Asn) c.39214G>A (p.Asp13072Asn) c.39211G>A (p.Asp13071Asn) c.38644G>A (p.Asp12882Asn) c.35986G>A (p.Asp11996Asn) c.35905G>A (p.Asp11969Asn) c.17668G>A (p.Asp5890Asn) c.7522G>A (p.Asp2508Asn) | |
| 2 | g.178624508A>C | CA349640312 | TTN | c.37068T>G (p.Cys12356Trp) c.18153T>G (p.Cys6051Trp) c.17952T>G (p.Cys5984Trp) c.17577T>G (p.Cys5859Trp) c.44772T>G (p.Cys14924Trp) c.39849T>G (p.Cys13283Trp) c.43869T>G (p.Cys14623Trp) c.17763T>G (p.Cys5921Trp) c.17622T>G (p.Cys5874Trp) c.43665T>G (p.Cys14555Trp) c.39063T>G (p.Cys13021Trp) c.39060T>G (p.Cys13020Trp) c.36102T>G (p.Cys12034Trp) c.17718T>G (p.Cys5906Trp) c.39213T>G (p.Cys13071Trp) c.39210T>G (p.Cys13070Trp) c.38643T>G (p.Cys12881Trp) c.35985T>G (p.Cys11995Trp) c.35904T>G (p.Cys11968Trp) c.17667T>G (p.Cys5889Trp) c.7521T>G (p.Cys2507Trp) | |
| 2 | g.178624508A>G | CA430275950 | TTN | c.37068T>C (p.Cys12356=) c.18153T>C (p.Cys6051=) c.17952T>C (p.Cys5984=) c.17577T>C (p.Cys5859=) c.44772T>C (p.Cys14924=) c.39849T>C (p.Cys13283=) c.43869T>C (p.Cys14623=) c.17763T>C (p.Cys5921=) c.17622T>C (p.Cys5874=) c.43665T>C (p.Cys14555=) c.39063T>C (p.Cys13021=) c.39060T>C (p.Cys13020=) c.36102T>C (p.Cys12034=) c.17718T>C (p.Cys5906=) c.39213T>C (p.Cys13071=) c.39210T>C (p.Cys13070=) c.38643T>C (p.Cys12881=) c.35985T>C (p.Cys11995=) c.35904T>C (p.Cys11968=) c.17667T>C (p.Cys5889=) c.7521T>C (p.Cys2507=) | gnomAD v4 |
| 2 | g.178624508A>T | CA349640314 | TTN | c.37068T>A (p.Cys12356Ter) c.18153T>A (p.Cys6051Ter) c.17952T>A (p.Cys5984Ter) c.17577T>A (p.Cys5859Ter) c.44772T>A (p.Cys14924Ter) c.39849T>A (p.Cys13283Ter) c.43869T>A (p.Cys14623Ter) c.17763T>A (p.Cys5921Ter) c.17622T>A (p.Cys5874Ter) c.43665T>A (p.Cys14555Ter) c.39063T>A (p.Cys13021Ter) c.39060T>A (p.Cys13020Ter) c.36102T>A (p.Cys12034Ter) c.17718T>A (p.Cys5906Ter) c.39213T>A (p.Cys13071Ter) c.39210T>A (p.Cys13070Ter) c.38643T>A (p.Cys12881Ter) c.35985T>A (p.Cys11995Ter) c.35904T>A (p.Cys11968Ter) c.17667T>A (p.Cys5889Ter) c.7521T>A (p.Cys2507Ter) | |
| 2 | g.178624509C>A | CA349640318 | TTN | c.37067G>T (p.Cys12356Phe) c.18152G>T (p.Cys6051Phe) c.17951G>T (p.Cys5984Phe) c.17576G>T (p.Cys5859Phe) c.44771G>T (p.Cys14924Phe) c.39848G>T (p.Cys13283Phe) c.43868G>T (p.Cys14623Phe) c.17762G>T (p.Cys5921Phe) c.17621G>T (p.Cys5874Phe) c.43664G>T (p.Cys14555Phe) c.39062G>T (p.Cys13021Phe) c.39059G>T (p.Cys13020Phe) c.36101G>T (p.Cys12034Phe) c.17717G>T (p.Cys5906Phe) c.39212G>T (p.Cys13071Phe) c.39209G>T (p.Cys13070Phe) c.38642G>T (p.Cys12881Phe) c.35984G>T (p.Cys11995Phe) c.35903G>T (p.Cys11968Phe) c.17666G>T (p.Cys5889Phe) c.7520G>T (p.Cys2507Phe) | |
| 2 | g.178624509C>G | CA349640316 | TTN | c.37067G>C (p.Cys12356Ser) c.18152G>C (p.Cys6051Ser) c.17951G>C (p.Cys5984Ser) c.17576G>C (p.Cys5859Ser) c.44771G>C (p.Cys14924Ser) c.39848G>C (p.Cys13283Ser) c.43868G>C (p.Cys14623Ser) c.17762G>C (p.Cys5921Ser) c.17621G>C (p.Cys5874Ser) c.43664G>C (p.Cys14555Ser) c.39062G>C (p.Cys13021Ser) c.39059G>C (p.Cys13020Ser) c.36101G>C (p.Cys12034Ser) c.17717G>C (p.Cys5906Ser) c.39212G>C (p.Cys13071Ser) c.39209G>C (p.Cys13070Ser) c.38642G>C (p.Cys12881Ser) c.35984G>C (p.Cys11995Ser) c.35903G>C (p.Cys11968Ser) c.17666G>C (p.Cys5889Ser) c.7520G>C (p.Cys2507Ser) | COSMIC COSMIC COSMIC COSMIC |