UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178630228_178630243del | CA2586970783 | TTN | c.36576_36577+14del c.17661_17662+14del c.17460_17461+14del c.17085_17086+14del c.44280_44281+14del c.39357_39358+14del c.43377_43378+14del c.17271_17272+14del c.17130_17131+14del c.43173_43174+14del c.38571_38572+14del c.38568_38569+14del c.35610_35611+14del c.17226_17227+14del c.38721_38722+14del c.38718_38719+14del c.38151_38152+14del c.35493_35494+14del c.35412_35413+14del c.17175_17176+14del c.7029_7030+14del | |
| 2 | g.178630242C>A | CA349645107 | TTN | c.36576G>T (p.Lys12192Asn) c.17661G>T (p.Lys5887Asn) c.17460G>T (p.Lys5820Asn) c.17085G>T (p.Lys5695Asn) c.44280G>T (p.Lys14760Asn) c.39357G>T (p.Lys13119Asn) c.43377G>T (p.Lys14459Asn) c.17271G>T (p.Lys5757Asn) c.17130G>T (p.Lys5710Asn) c.43173G>T (p.Lys14391Asn) c.38571G>T (p.Lys12857Asn) c.38568G>T (p.Lys12856Asn) c.35610G>T (p.Lys11870Asn) c.17226G>T (p.Lys5742Asn) c.38721G>T (p.Lys12907Asn) c.38718G>T (p.Lys12906Asn) c.38151G>T (p.Lys12717Asn) c.35493G>T (p.Lys11831Asn) c.35412G>T (p.Lys11804Asn) c.17175G>T (p.Lys5725Asn) c.7029G>T (p.Lys2343Asn) | |
| 2 | g.178630242C= | CA1310555897 | TTN | c.36576G= (p.Lys12192=) c.17661G= (p.Lys5887=) c.17460G= (p.Lys5820=) c.17085G= (p.Lys5695=) c.44280G= (p.Lys14760=) c.39357G= (p.Lys13119=) c.43377G= (p.Lys14459=) c.17271G= (p.Lys5757=) c.17130G= (p.Lys5710=) c.43173G= (p.Lys14391=) c.38571G= (p.Lys12857=) c.38568G= (p.Lys12856=) c.35610G= (p.Lys11870=) c.17226G= (p.Lys5742=) c.38721G= (p.Lys12907=) c.38718G= (p.Lys12906=) c.38151G= (p.Lys12717=) c.35493G= (p.Lys11831=) c.35412G= (p.Lys11804=) c.17175G= (p.Lys5725=) c.7029G= (p.Lys2343=) | |
| 2 | g.178630242C>G | CA349645109 | TTN | c.36576G>C (p.Lys12192Asn) c.17661G>C (p.Lys5887Asn) c.17460G>C (p.Lys5820Asn) c.17085G>C (p.Lys5695Asn) c.44280G>C (p.Lys14760Asn) c.39357G>C (p.Lys13119Asn) c.43377G>C (p.Lys14459Asn) c.17271G>C (p.Lys5757Asn) c.17130G>C (p.Lys5710Asn) c.43173G>C (p.Lys14391Asn) c.38571G>C (p.Lys12857Asn) c.38568G>C (p.Lys12856Asn) c.35610G>C (p.Lys11870Asn) c.17226G>C (p.Lys5742Asn) c.38721G>C (p.Lys12907Asn) c.38718G>C (p.Lys12906Asn) c.38151G>C (p.Lys12717Asn) c.35493G>C (p.Lys11831Asn) c.35412G>C (p.Lys11804Asn) c.17175G>C (p.Lys5725Asn) c.7029G>C (p.Lys2343Asn) | |
| 2 | g.178630242C>T | CA430113360 | TTN | c.36576G>A (p.Lys12192=) c.17661G>A (p.Lys5887=) c.17460G>A (p.Lys5820=) c.17085G>A (p.Lys5695=) c.44280G>A (p.Lys14760=) c.39357G>A (p.Lys13119=) c.43377G>A (p.Lys14459=) c.17271G>A (p.Lys5757=) c.17130G>A (p.Lys5710=) c.43173G>A (p.Lys14391=) c.38571G>A (p.Lys12857=) c.38568G>A (p.Lys12856=) c.35610G>A (p.Lys11870=) c.17226G>A (p.Lys5742=) c.38721G>A (p.Lys12907=) c.38718G>A (p.Lys12906=) c.38151G>A (p.Lys12717=) c.35493G>A (p.Lys11831=) c.35412G>A (p.Lys11804=) c.17175G>A (p.Lys5725=) c.7029G>A (p.Lys2343=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.178630243T>A | CA349645112 | TTN | c.36575A>T (p.Lys12192Met) c.17660A>T (p.Lys5887Met) c.17459A>T (p.Lys5820Met) c.17084A>T (p.Lys5695Met) c.44279A>T (p.Lys14760Met) c.39356A>T (p.Lys13119Met) c.43376A>T (p.Lys14459Met) c.17270A>T (p.Lys5757Met) c.17129A>T (p.Lys5710Met) c.43172A>T (p.Lys14391Met) c.38570A>T (p.Lys12857Met) c.38567A>T (p.Lys12856Met) c.35609A>T (p.Lys11870Met) c.17225A>T (p.Lys5742Met) c.38720A>T (p.Lys12907Met) c.38717A>T (p.Lys12906Met) c.38150A>T (p.Lys12717Met) c.35492A>T (p.Lys11831Met) c.35411A>T (p.Lys11804Met) c.17174A>T (p.Lys5725Met) c.7028A>T (p.Lys2343Met) | |
| 2 | g.178630243T>C | CA349645114 | TTN | c.36575A>G (p.Lys12192Arg) c.17660A>G (p.Lys5887Arg) c.17459A>G (p.Lys5820Arg) c.17084A>G (p.Lys5695Arg) c.44279A>G (p.Lys14760Arg) c.39356A>G (p.Lys13119Arg) c.43376A>G (p.Lys14459Arg) c.17270A>G (p.Lys5757Arg) c.17129A>G (p.Lys5710Arg) c.43172A>G (p.Lys14391Arg) c.38570A>G (p.Lys12857Arg) c.38567A>G (p.Lys12856Arg) c.35609A>G (p.Lys11870Arg) c.17225A>G (p.Lys5742Arg) c.38720A>G (p.Lys12907Arg) c.38717A>G (p.Lys12906Arg) c.38150A>G (p.Lys12717Arg) c.35492A>G (p.Lys11831Arg) c.35411A>G (p.Lys11804Arg) c.17174A>G (p.Lys5725Arg) c.7028A>G (p.Lys2343Arg) | dbSNP gnomAD v4 |
| 2 | g.178630243T>G | CA349645111 | TTN | c.36575A>C (p.Lys12192Thr) c.17660A>C (p.Lys5887Thr) c.17459A>C (p.Lys5820Thr) c.17084A>C (p.Lys5695Thr) c.44279A>C (p.Lys14760Thr) c.39356A>C (p.Lys13119Thr) c.43376A>C (p.Lys14459Thr) c.17270A>C (p.Lys5757Thr) c.17129A>C (p.Lys5710Thr) c.43172A>C (p.Lys14391Thr) c.38570A>C (p.Lys12857Thr) c.38567A>C (p.Lys12856Thr) c.35609A>C (p.Lys11870Thr) c.17225A>C (p.Lys5742Thr) c.38720A>C (p.Lys12907Thr) c.38717A>C (p.Lys12906Thr) c.38150A>C (p.Lys12717Thr) c.35492A>C (p.Lys11831Thr) c.35411A>C (p.Lys11804Thr) c.17174A>C (p.Lys5725Thr) c.7028A>C (p.Lys2343Thr) | |
| 2 | g.178630243T= | CA1310555898 | TTN | c.36575A= (p.Lys12192=) c.17660A= (p.Lys5887=) c.17459A= (p.Lys5820=) c.17084A= (p.Lys5695=) c.44279A= (p.Lys14760=) c.39356A= (p.Lys13119=) c.43376A= (p.Lys14459=) c.17270A= (p.Lys5757=) c.17129A= (p.Lys5710=) c.43172A= (p.Lys14391=) c.38570A= (p.Lys12857=) c.38567A= (p.Lys12856=) c.35609A= (p.Lys11870=) c.17225A= (p.Lys5742=) c.38720A= (p.Lys12907=) c.38717A= (p.Lys12906=) c.38150A= (p.Lys12717=) c.35492A= (p.Lys11831=) c.35411A= (p.Lys11804=) c.17174A= (p.Lys5725=) c.7028A= (p.Lys2343=) | |
| 2 | g.178630244T>A | CA349645121 | TTN | c.36574A>T (p.Lys12192Ter) c.17659A>T (p.Lys5887Ter) c.17458A>T (p.Lys5820Ter) c.17083A>T (p.Lys5695Ter) c.44278A>T (p.Lys14760Ter) c.39355A>T (p.Lys13119Ter) c.43375A>T (p.Lys14459Ter) c.17269A>T (p.Lys5757Ter) c.17128A>T (p.Lys5710Ter) c.43171A>T (p.Lys14391Ter) c.38569A>T (p.Lys12857Ter) c.38566A>T (p.Lys12856Ter) c.35608A>T (p.Lys11870Ter) c.17224A>T (p.Lys5742Ter) c.38719A>T (p.Lys12907Ter) c.38716A>T (p.Lys12906Ter) c.38149A>T (p.Lys12717Ter) c.35491A>T (p.Lys11831Ter) c.35410A>T (p.Lys11804Ter) c.17173A>T (p.Lys5725Ter) c.7027A>T (p.Lys2343Ter) | |
| 2 | g.178630244T>C | CA349645116 | TTN | c.36574A>G (p.Lys12192Glu) c.17659A>G (p.Lys5887Glu) c.17458A>G (p.Lys5820Glu) c.17083A>G (p.Lys5695Glu) c.44278A>G (p.Lys14760Glu) c.39355A>G (p.Lys13119Glu) c.43375A>G (p.Lys14459Glu) c.17269A>G (p.Lys5757Glu) c.17128A>G (p.Lys5710Glu) c.43171A>G (p.Lys14391Glu) c.38569A>G (p.Lys12857Glu) c.38566A>G (p.Lys12856Glu) c.35608A>G (p.Lys11870Glu) c.17224A>G (p.Lys5742Glu) c.38719A>G (p.Lys12907Glu) c.38716A>G (p.Lys12906Glu) c.38149A>G (p.Lys12717Glu) c.35491A>G (p.Lys11831Glu) c.35410A>G (p.Lys11804Glu) c.17173A>G (p.Lys5725Glu) c.7027A>G (p.Lys2343Glu) | gnomAD v4 |
| 2 | g.178630244T>G | CA349645119 | TTN | c.36574A>C (p.Lys12192Gln) c.17659A>C (p.Lys5887Gln) c.17458A>C (p.Lys5820Gln) c.17083A>C (p.Lys5695Gln) c.44278A>C (p.Lys14760Gln) c.39355A>C (p.Lys13119Gln) c.43375A>C (p.Lys14459Gln) c.17269A>C (p.Lys5757Gln) c.17128A>C (p.Lys5710Gln) c.43171A>C (p.Lys14391Gln) c.38569A>C (p.Lys12857Gln) c.38566A>C (p.Lys12856Gln) c.35608A>C (p.Lys11870Gln) c.17224A>C (p.Lys5742Gln) c.38719A>C (p.Lys12907Gln) c.38716A>C (p.Lys12906Gln) c.38149A>C (p.Lys12717Gln) c.35491A>C (p.Lys11831Gln) c.35410A>C (p.Lys11804Gln) c.17173A>C (p.Lys5725Gln) c.7027A>C (p.Lys2343Gln) | |
| 2 | g.178630245A>C | CA430113372 | TTN | c.36573T>G (p.Val12191=) c.17658T>G (p.Val5886=) c.17457T>G (p.Val5819=) c.17082T>G (p.Val5694=) c.44277T>G (p.Val14759=) c.39354T>G (p.Val13118=) c.43374T>G (p.Val14458=) c.17268T>G (p.Val5756=) c.17127T>G (p.Val5709=) c.43170T>G (p.Val14390=) c.38568T>G (p.Val12856=) c.38565T>G (p.Val12855=) c.35607T>G (p.Val11869=) c.17223T>G (p.Val5741=) c.38718T>G (p.Val12906=) c.38715T>G (p.Val12905=) c.38148T>G (p.Val12716=) c.35490T>G (p.Val11830=) c.35409T>G (p.Val11803=) c.17172T>G (p.Val5724=) c.7026T>G (p.Val2342=) | |
| 2 | g.178630245A>G | CA430113374 | TTN | c.36573T>C (p.Val12191=) c.17658T>C (p.Val5886=) c.17457T>C (p.Val5819=) c.17082T>C (p.Val5694=) c.44277T>C (p.Val14759=) c.39354T>C (p.Val13118=) c.43374T>C (p.Val14458=) c.17268T>C (p.Val5756=) c.17127T>C (p.Val5709=) c.43170T>C (p.Val14390=) c.38568T>C (p.Val12856=) c.38565T>C (p.Val12855=) c.35607T>C (p.Val11869=) c.17223T>C (p.Val5741=) c.38718T>C (p.Val12906=) c.38715T>C (p.Val12905=) c.38148T>C (p.Val12716=) c.35490T>C (p.Val11830=) c.35409T>C (p.Val11803=) c.17172T>C (p.Val5724=) c.7026T>C (p.Val2342=) | |
| 2 | g.178630245A>T | CA430113376 | TTN | c.36573T>A (p.Val12191=) c.17658T>A (p.Val5886=) c.17457T>A (p.Val5819=) c.17082T>A (p.Val5694=) c.44277T>A (p.Val14759=) c.39354T>A (p.Val13118=) c.43374T>A (p.Val14458=) c.17268T>A (p.Val5756=) c.17127T>A (p.Val5709=) c.43170T>A (p.Val14390=) c.38568T>A (p.Val12856=) c.38565T>A (p.Val12855=) c.35607T>A (p.Val11869=) c.17223T>A (p.Val5741=) c.38718T>A (p.Val12906=) c.38715T>A (p.Val12905=) c.38148T>A (p.Val12716=) c.35490T>A (p.Val11830=) c.35409T>A (p.Val11803=) c.17172T>A (p.Val5724=) c.7026T>A (p.Val2342=) | |
| 2 | g.178630246A>C | CA349645124 | TTN | c.36572T>G (p.Val12191Gly) c.17657T>G (p.Val5886Gly) c.17456T>G (p.Val5819Gly) c.17081T>G (p.Val5694Gly) c.44276T>G (p.Val14759Gly) c.39353T>G (p.Val13118Gly) c.43373T>G (p.Val14458Gly) c.17267T>G (p.Val5756Gly) c.17126T>G (p.Val5709Gly) c.43169T>G (p.Val14390Gly) c.38567T>G (p.Val12856Gly) c.38564T>G (p.Val12855Gly) c.35606T>G (p.Val11869Gly) c.17222T>G (p.Val5741Gly) c.38717T>G (p.Val12906Gly) c.38714T>G (p.Val12905Gly) c.38147T>G (p.Val12716Gly) c.35489T>G (p.Val11830Gly) c.35408T>G (p.Val11803Gly) c.17171T>G (p.Val5724Gly) c.7025T>G (p.Val2342Gly) | |
| 2 | g.178630246A>G | CA349645127 | TTN | c.36572T>C (p.Val12191Ala) c.17657T>C (p.Val5886Ala) c.17456T>C (p.Val5819Ala) c.17081T>C (p.Val5694Ala) c.44276T>C (p.Val14759Ala) c.39353T>C (p.Val13118Ala) c.43373T>C (p.Val14458Ala) c.17267T>C (p.Val5756Ala) c.17126T>C (p.Val5709Ala) c.43169T>C (p.Val14390Ala) c.38567T>C (p.Val12856Ala) c.38564T>C (p.Val12855Ala) c.35606T>C (p.Val11869Ala) c.17222T>C (p.Val5741Ala) c.38717T>C (p.Val12906Ala) c.38714T>C (p.Val12905Ala) c.38147T>C (p.Val12716Ala) c.35489T>C (p.Val11830Ala) c.35408T>C (p.Val11803Ala) c.17171T>C (p.Val5724Ala) c.7025T>C (p.Val2342Ala) | |
| 2 | g.178630246A>T | CA349645129 | TTN | c.36572T>A (p.Val12191Asp) c.17657T>A (p.Val5886Asp) c.17456T>A (p.Val5819Asp) c.17081T>A (p.Val5694Asp) c.44276T>A (p.Val14759Asp) c.39353T>A (p.Val13118Asp) c.43373T>A (p.Val14458Asp) c.17267T>A (p.Val5756Asp) c.17126T>A (p.Val5709Asp) c.43169T>A (p.Val14390Asp) c.38567T>A (p.Val12856Asp) c.38564T>A (p.Val12855Asp) c.35606T>A (p.Val11869Asp) c.17222T>A (p.Val5741Asp) c.38717T>A (p.Val12906Asp) c.38714T>A (p.Val12905Asp) c.38147T>A (p.Val12716Asp) c.35489T>A (p.Val11830Asp) c.35408T>A (p.Val11803Asp) c.17171T>A (p.Val5724Asp) c.7025T>A (p.Val2342Asp) | gnomAD v4 |
| 2 | g.178630247C>A | CA349645132 | TTN | c.36571G>T (p.Val12191Phe) c.17656G>T (p.Val5886Phe) c.17455G>T (p.Val5819Phe) c.17080G>T (p.Val5694Phe) c.44275G>T (p.Val14759Phe) c.39352G>T (p.Val13118Phe) c.43372G>T (p.Val14458Phe) c.17266G>T (p.Val5756Phe) c.17125G>T (p.Val5709Phe) c.43168G>T (p.Val14390Phe) c.38566G>T (p.Val12856Phe) c.38563G>T (p.Val12855Phe) c.35605G>T (p.Val11869Phe) c.17221G>T (p.Val5741Phe) c.38716G>T (p.Val12906Phe) c.38713G>T (p.Val12905Phe) c.38146G>T (p.Val12716Phe) c.35488G>T (p.Val11830Phe) c.35407G>T (p.Val11803Phe) c.17170G>T (p.Val5724Phe) c.7024G>T (p.Val2342Phe) | ClinVar |
| 2 | g.178630247C>G | CA349645145 | TTN | c.36571G>C (p.Val12191Leu) c.17656G>C (p.Val5886Leu) c.17455G>C (p.Val5819Leu) c.17080G>C (p.Val5694Leu) c.44275G>C (p.Val14759Leu) c.39352G>C (p.Val13118Leu) c.43372G>C (p.Val14458Leu) c.17266G>C (p.Val5756Leu) c.17125G>C (p.Val5709Leu) c.43168G>C (p.Val14390Leu) c.38566G>C (p.Val12856Leu) c.38563G>C (p.Val12855Leu) c.35605G>C (p.Val11869Leu) c.17221G>C (p.Val5741Leu) c.38716G>C (p.Val12906Leu) c.38713G>C (p.Val12905Leu) c.38146G>C (p.Val12716Leu) c.35488G>C (p.Val11830Leu) c.35407G>C (p.Val11803Leu) c.17170G>C (p.Val5724Leu) c.7024G>C (p.Val2342Leu) | |
| 2 | g.178630247C>T | CA349645147 | TTN | c.36571G>A (p.Val12191Ile) c.17656G>A (p.Val5886Ile) c.17455G>A (p.Val5819Ile) c.17080G>A (p.Val5694Ile) c.44275G>A (p.Val14759Ile) c.39352G>A (p.Val13118Ile) c.43372G>A (p.Val14458Ile) c.17266G>A (p.Val5756Ile) c.17125G>A (p.Val5709Ile) c.43168G>A (p.Val14390Ile) c.38566G>A (p.Val12856Ile) c.38563G>A (p.Val12855Ile) c.35605G>A (p.Val11869Ile) c.17221G>A (p.Val5741Ile) c.38716G>A (p.Val12906Ile) c.38713G>A (p.Val12905Ile) c.38146G>A (p.Val12716Ile) c.35488G>A (p.Val11830Ile) c.35407G>A (p.Val11803Ile) c.17170G>A (p.Val5724Ile) c.7024G>A (p.Val2342Ile) | |
| 2 | g.178630248T>A | CA430113384 | TTN | c.36570A>T (p.Arg12190=) c.17655A>T (p.Arg5885=) c.17454A>T (p.Arg5818=) c.17079A>T (p.Arg5693=) c.44274A>T (p.Arg14758=) c.39351A>T (p.Arg13117=) c.43371A>T (p.Arg14457=) c.17265A>T (p.Arg5755=) c.17124A>T (p.Arg5708=) c.43167A>T (p.Arg14389=) c.38565A>T (p.Arg12855=) c.38562A>T (p.Arg12854=) c.35604A>T (p.Arg11868=) c.17220A>T (p.Arg5740=) c.38715A>T (p.Arg12905=) c.38712A>T (p.Arg12904=) c.38145A>T (p.Arg12715=) c.35487A>T (p.Arg11829=) c.35406A>T (p.Arg11802=) c.17169A>T (p.Arg5723=) c.7023A>T (p.Arg2341=) | |
| 2 | g.178630248T>C | CA430113386 | TTN | c.36570A>G (p.Arg12190=) c.17655A>G (p.Arg5885=) c.17454A>G (p.Arg5818=) c.17079A>G (p.Arg5693=) c.44274A>G (p.Arg14758=) c.39351A>G (p.Arg13117=) c.43371A>G (p.Arg14457=) c.17265A>G (p.Arg5755=) c.17124A>G (p.Arg5708=) c.43167A>G (p.Arg14389=) c.38565A>G (p.Arg12855=) c.38562A>G (p.Arg12854=) c.35604A>G (p.Arg11868=) c.17220A>G (p.Arg5740=) c.38715A>G (p.Arg12905=) c.38712A>G (p.Arg12904=) c.38145A>G (p.Arg12715=) c.35487A>G (p.Arg11829=) c.35406A>G (p.Arg11802=) c.17169A>G (p.Arg5723=) c.7023A>G (p.Arg2341=) | ClinVar |
| 2 | g.178630248T>G | CA430113389 | TTN | c.36570A>C (p.Arg12190=) c.17655A>C (p.Arg5885=) c.17454A>C (p.Arg5818=) c.17079A>C (p.Arg5693=) c.44274A>C (p.Arg14758=) c.39351A>C (p.Arg13117=) c.43371A>C (p.Arg14457=) c.17265A>C (p.Arg5755=) c.17124A>C (p.Arg5708=) c.43167A>C (p.Arg14389=) c.38565A>C (p.Arg12855=) c.38562A>C (p.Arg12854=) c.35604A>C (p.Arg11868=) c.17220A>C (p.Arg5740=) c.38715A>C (p.Arg12905=) c.38712A>C (p.Arg12904=) c.38145A>C (p.Arg12715=) c.35487A>C (p.Arg11829=) c.35406A>C (p.Arg11802=) c.17169A>C (p.Arg5723=) c.7023A>C (p.Arg2341=) | |
| 2 | g.178630249C>A | CA349645151 | TTN | c.36569G>T (p.Arg12190Leu) c.17654G>T (p.Arg5885Leu) c.17453G>T (p.Arg5818Leu) c.17078G>T (p.Arg5693Leu) c.44273G>T (p.Arg14758Leu) c.39350G>T (p.Arg13117Leu) c.43370G>T (p.Arg14457Leu) c.17264G>T (p.Arg5755Leu) c.17123G>T (p.Arg5708Leu) c.43166G>T (p.Arg14389Leu) c.38564G>T (p.Arg12855Leu) c.38561G>T (p.Arg12854Leu) c.35603G>T (p.Arg11868Leu) c.17219G>T (p.Arg5740Leu) c.38714G>T (p.Arg12905Leu) c.38711G>T (p.Arg12904Leu) c.38144G>T (p.Arg12715Leu) c.35486G>T (p.Arg11829Leu) c.35405G>T (p.Arg11802Leu) c.17168G>T (p.Arg5723Leu) c.7022G>T (p.Arg2341Leu) | |
| 2 | g.178630249C= | CA1310555899 | TTN | c.36569G= (p.Arg12190=) c.17654G= (p.Arg5885=) c.17453G= (p.Arg5818=) c.17078G= (p.Arg5693=) c.44273G= (p.Arg14758=) c.39350G= (p.Arg13117=) c.43370G= (p.Arg14457=) c.17264G= (p.Arg5755=) c.17123G= (p.Arg5708=) c.43166G= (p.Arg14389=) c.38564G= (p.Arg12855=) c.38561G= (p.Arg12854=) c.35603G= (p.Arg11868=) c.17219G= (p.Arg5740=) c.38714G= (p.Arg12905=) c.38711G= (p.Arg12904=) c.38144G= (p.Arg12715=) c.35486G= (p.Arg11829=) c.35405G= (p.Arg11802=) c.17168G= (p.Arg5723=) c.7022G= (p.Arg2341=) | |
| 2 | g.178630249C>G | CA349645153 | TTN | c.36569G>C (p.Arg12190Pro) c.17654G>C (p.Arg5885Pro) c.17453G>C (p.Arg5818Pro) c.17078G>C (p.Arg5693Pro) c.44273G>C (p.Arg14758Pro) c.39350G>C (p.Arg13117Pro) c.43370G>C (p.Arg14457Pro) c.17264G>C (p.Arg5755Pro) c.17123G>C (p.Arg5708Pro) c.43166G>C (p.Arg14389Pro) c.38564G>C (p.Arg12855Pro) c.38561G>C (p.Arg12854Pro) c.35603G>C (p.Arg11868Pro) c.17219G>C (p.Arg5740Pro) c.38714G>C (p.Arg12905Pro) c.38711G>C (p.Arg12904Pro) c.38144G>C (p.Arg12715Pro) c.35486G>C (p.Arg11829Pro) c.35405G>C (p.Arg11802Pro) c.17168G>C (p.Arg5723Pro) c.7022G>C (p.Arg2341Pro) | gnomAD v4 |
| 2 | g.178630249C>T | CA1995705 | TTN | c.36569G>A (p.Arg12190Gln) c.17654G>A (p.Arg5885Gln) c.17453G>A (p.Arg5818Gln) c.17078G>A (p.Arg5693Gln) c.44273G>A (p.Arg14758Gln) c.39350G>A (p.Arg13117Gln) c.43370G>A (p.Arg14457Gln) c.17264G>A (p.Arg5755Gln) c.17123G>A (p.Arg5708Gln) c.43166G>A (p.Arg14389Gln) c.38564G>A (p.Arg12855Gln) c.38561G>A (p.Arg12854Gln) c.35603G>A (p.Arg11868Gln) c.17219G>A (p.Arg5740Gln) c.38714G>A (p.Arg12905Gln) c.38711G>A (p.Arg12904Gln) c.38144G>A (p.Arg12715Gln) c.35486G>A (p.Arg11829Gln) c.35405G>A (p.Arg11802Gln) c.17168G>A (p.Arg5723Gln) c.7022G>A (p.Arg2341Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178630250G>A | CA309212 | TTN | c.36568C>T (p.Arg12190Ter) c.17653C>T (p.Arg5885Ter) c.17452C>T (p.Arg5818Ter) c.17077C>T (p.Arg5693Ter) c.44272C>T (p.Arg14758Ter) c.39349C>T (p.Arg13117Ter) c.43369C>T (p.Arg14457Ter) c.17263C>T (p.Arg5755Ter) c.17122C>T (p.Arg5708Ter) c.43165C>T (p.Arg14389Ter) c.38563C>T (p.Arg12855Ter) c.38560C>T (p.Arg12854Ter) c.35602C>T (p.Arg11868Ter) c.17218C>T (p.Arg5740Ter) c.38713C>T (p.Arg12905Ter) c.38710C>T (p.Arg12904Ter) c.38143C>T (p.Arg12715Ter) c.35485C>T (p.Arg11829Ter) c.35404C>T (p.Arg11802Ter) c.17167C>T (p.Arg5723Ter) c.7021C>T (p.Arg2341Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178630250G>C | CA349645159 | TTN | c.36568C>G (p.Arg12190Gly) c.17653C>G (p.Arg5885Gly) c.17452C>G (p.Arg5818Gly) c.17077C>G (p.Arg5693Gly) c.44272C>G (p.Arg14758Gly) c.39349C>G (p.Arg13117Gly) c.43369C>G (p.Arg14457Gly) c.17263C>G (p.Arg5755Gly) c.17122C>G (p.Arg5708Gly) c.43165C>G (p.Arg14389Gly) c.38563C>G (p.Arg12855Gly) c.38560C>G (p.Arg12854Gly) c.35602C>G (p.Arg11868Gly) c.17218C>G (p.Arg5740Gly) c.38713C>G (p.Arg12905Gly) c.38710C>G (p.Arg12904Gly) c.38143C>G (p.Arg12715Gly) c.35485C>G (p.Arg11829Gly) c.35404C>G (p.Arg11802Gly) c.17167C>G (p.Arg5723Gly) c.7021C>G (p.Arg2341Gly) | gnomAD v4 |
| 2 | g.178630250G= | CA1310555900 | TTN | c.36568C= (p.Arg12190=) c.17653C= (p.Arg5885=) c.17452C= (p.Arg5818=) c.17077C= (p.Arg5693=) c.44272C= (p.Arg14758=) c.39349C= (p.Arg13117=) c.43369C= (p.Arg14457=) c.17263C= (p.Arg5755=) c.17122C= (p.Arg5708=) c.43165C= (p.Arg14389=) c.38563C= (p.Arg12855=) c.38560C= (p.Arg12854=) c.35602C= (p.Arg11868=) c.17218C= (p.Arg5740=) c.38713C= (p.Arg12905=) c.38710C= (p.Arg12904=) c.38143C= (p.Arg12715=) c.35485C= (p.Arg11829=) c.35404C= (p.Arg11802=) c.17167C= (p.Arg5723=) c.7021C= (p.Arg2341=) | |
| 2 | g.178630250G>T | CA430113397 | TTN | c.36568C>A (p.Arg12190=) c.17653C>A (p.Arg5885=) c.17452C>A (p.Arg5818=) c.17077C>A (p.Arg5693=) c.44272C>A (p.Arg14758=) c.39349C>A (p.Arg13117=) c.43369C>A (p.Arg14457=) c.17263C>A (p.Arg5755=) c.17122C>A (p.Arg5708=) c.43165C>A (p.Arg14389=) c.38563C>A (p.Arg12855=) c.38560C>A (p.Arg12854=) c.35602C>A (p.Arg11868=) c.17218C>A (p.Arg5740=) c.38713C>A (p.Arg12905=) c.38710C>A (p.Arg12904=) c.38143C>A (p.Arg12715=) c.35485C>A (p.Arg11829=) c.35404C>A (p.Arg11802=) c.17167C>A (p.Arg5723=) c.7021C>A (p.Arg2341=) | gnomAD v4 |
| 2 | g.178630251G>A | CA430113400 | TTN | c.36567C>T (p.Leu12189=) c.17652C>T (p.Leu5884=) c.17451C>T (p.Leu5817=) c.17076C>T (p.Leu5692=) c.44271C>T (p.Leu14757=) c.39348C>T (p.Leu13116=) c.43368C>T (p.Leu14456=) c.17262C>T (p.Leu5754=) c.17121C>T (p.Leu5707=) c.43164C>T (p.Leu14388=) c.38562C>T (p.Leu12854=) c.38559C>T (p.Leu12853=) c.35601C>T (p.Leu11867=) c.17217C>T (p.Leu5739=) c.38712C>T (p.Leu12904=) c.38709C>T (p.Leu12903=) c.38142C>T (p.Leu12714=) c.35484C>T (p.Leu11828=) c.35403C>T (p.Leu11801=) c.17166C>T (p.Leu5722=) c.7020C>T (p.Leu2340=) | |
| 2 | g.178630251G>C | CA430113402 | TTN | c.36567C>G (p.Leu12189=) c.17652C>G (p.Leu5884=) c.17451C>G (p.Leu5817=) c.17076C>G (p.Leu5692=) c.44271C>G (p.Leu14757=) c.39348C>G (p.Leu13116=) c.43368C>G (p.Leu14456=) c.17262C>G (p.Leu5754=) c.17121C>G (p.Leu5707=) c.43164C>G (p.Leu14388=) c.38562C>G (p.Leu12854=) c.38559C>G (p.Leu12853=) c.35601C>G (p.Leu11867=) c.17217C>G (p.Leu5739=) c.38712C>G (p.Leu12904=) c.38709C>G (p.Leu12903=) c.38142C>G (p.Leu12714=) c.35484C>G (p.Leu11828=) c.35403C>G (p.Leu11801=) c.17166C>G (p.Leu5722=) c.7020C>G (p.Leu2340=) | |
| 2 | g.178630251G>T | CA430113404 | TTN | c.36567C>A (p.Leu12189=) c.17652C>A (p.Leu5884=) c.17451C>A (p.Leu5817=) c.17076C>A (p.Leu5692=) c.44271C>A (p.Leu14757=) c.39348C>A (p.Leu13116=) c.43368C>A (p.Leu14456=) c.17262C>A (p.Leu5754=) c.17121C>A (p.Leu5707=) c.43164C>A (p.Leu14388=) c.38562C>A (p.Leu12854=) c.38559C>A (p.Leu12853=) c.35601C>A (p.Leu11867=) c.17217C>A (p.Leu5739=) c.38712C>A (p.Leu12904=) c.38709C>A (p.Leu12903=) c.38142C>A (p.Leu12714=) c.35484C>A (p.Leu11828=) c.35403C>A (p.Leu11801=) c.17166C>A (p.Leu5722=) c.7020C>A (p.Leu2340=) | |
| 2 | g.178630252A>C | CA349645164 | TTN | c.36566T>G (p.Leu12189Arg) c.17651T>G (p.Leu5884Arg) c.17450T>G (p.Leu5817Arg) c.17075T>G (p.Leu5692Arg) c.44270T>G (p.Leu14757Arg) c.39347T>G (p.Leu13116Arg) c.43367T>G (p.Leu14456Arg) c.17261T>G (p.Leu5754Arg) c.17120T>G (p.Leu5707Arg) c.43163T>G (p.Leu14388Arg) c.38561T>G (p.Leu12854Arg) c.38558T>G (p.Leu12853Arg) c.35600T>G (p.Leu11867Arg) c.17216T>G (p.Leu5739Arg) c.38711T>G (p.Leu12904Arg) c.38708T>G (p.Leu12903Arg) c.38141T>G (p.Leu12714Arg) c.35483T>G (p.Leu11828Arg) c.35402T>G (p.Leu11801Arg) c.17165T>G (p.Leu5722Arg) c.7019T>G (p.Leu2340Arg) | |
| 2 | g.178630252A>G | CA349645161 | TTN | c.36566T>C (p.Leu12189Pro) c.17651T>C (p.Leu5884Pro) c.17450T>C (p.Leu5817Pro) c.17075T>C (p.Leu5692Pro) c.44270T>C (p.Leu14757Pro) c.39347T>C (p.Leu13116Pro) c.43367T>C (p.Leu14456Pro) c.17261T>C (p.Leu5754Pro) c.17120T>C (p.Leu5707Pro) c.43163T>C (p.Leu14388Pro) c.38561T>C (p.Leu12854Pro) c.38558T>C (p.Leu12853Pro) c.35600T>C (p.Leu11867Pro) c.17216T>C (p.Leu5739Pro) c.38711T>C (p.Leu12904Pro) c.38708T>C (p.Leu12903Pro) c.38141T>C (p.Leu12714Pro) c.35483T>C (p.Leu11828Pro) c.35402T>C (p.Leu11801Pro) c.17165T>C (p.Leu5722Pro) c.7019T>C (p.Leu2340Pro) | |
| 2 | g.178630252A>T | CA349645163 | TTN | c.36566T>A (p.Leu12189His) c.17651T>A (p.Leu5884His) c.17450T>A (p.Leu5817His) c.17075T>A (p.Leu5692His) c.44270T>A (p.Leu14757His) c.39347T>A (p.Leu13116His) c.43367T>A (p.Leu14456His) c.17261T>A (p.Leu5754His) c.17120T>A (p.Leu5707His) c.43163T>A (p.Leu14388His) c.38561T>A (p.Leu12854His) c.38558T>A (p.Leu12853His) c.35600T>A (p.Leu11867His) c.17216T>A (p.Leu5739His) c.38711T>A (p.Leu12904His) c.38708T>A (p.Leu12903His) c.38141T>A (p.Leu12714His) c.35483T>A (p.Leu11828His) c.35402T>A (p.Leu11801His) c.17165T>A (p.Leu5722His) c.7019T>A (p.Leu2340His) | |
| 2 | g.178630253G>A | CA349645169 | TTN | c.36565C>T (p.Leu12189Phe) c.17650C>T (p.Leu5884Phe) c.17449C>T (p.Leu5817Phe) c.17074C>T (p.Leu5692Phe) c.44269C>T (p.Leu14757Phe) c.39346C>T (p.Leu13116Phe) c.43366C>T (p.Leu14456Phe) c.17260C>T (p.Leu5754Phe) c.17119C>T (p.Leu5707Phe) c.43162C>T (p.Leu14388Phe) c.38560C>T (p.Leu12854Phe) c.38557C>T (p.Leu12853Phe) c.35599C>T (p.Leu11867Phe) c.17215C>T (p.Leu5739Phe) c.38710C>T (p.Leu12904Phe) c.38707C>T (p.Leu12903Phe) c.38140C>T (p.Leu12714Phe) c.35482C>T (p.Leu11828Phe) c.35401C>T (p.Leu11801Phe) c.17164C>T (p.Leu5722Phe) c.7018C>T (p.Leu2340Phe) | gnomAD v4 |
| 2 | g.178630253G>C | CA236097 | TTN | c.36565C>G (p.Leu12189Val) c.17650C>G (p.Leu5884Val) c.17449C>G (p.Leu5817Val) c.17074C>G (p.Leu5692Val) c.44269C>G (p.Leu14757Val) c.39346C>G (p.Leu13116Val) c.43366C>G (p.Leu14456Val) c.17260C>G (p.Leu5754Val) c.17119C>G (p.Leu5707Val) c.43162C>G (p.Leu14388Val) c.38560C>G (p.Leu12854Val) c.38557C>G (p.Leu12853Val) c.35599C>G (p.Leu11867Val) c.17215C>G (p.Leu5739Val) c.38710C>G (p.Leu12904Val) c.38707C>G (p.Leu12903Val) c.38140C>G (p.Leu12714Val) c.35482C>G (p.Leu11828Val) c.35401C>G (p.Leu11801Val) c.17164C>G (p.Leu5722Val) c.7018C>G (p.Leu2340Val) | ClinVar dbSNP |
| 2 | g.178630253G= | CA1310555901 | TTN | c.36565C= (p.Leu12189=) c.17650C= (p.Leu5884=) c.17449C= (p.Leu5817=) c.17074C= (p.Leu5692=) c.44269C= (p.Leu14757=) c.39346C= (p.Leu13116=) c.43366C= (p.Leu14456=) c.17260C= (p.Leu5754=) c.17119C= (p.Leu5707=) c.43162C= (p.Leu14388=) c.38560C= (p.Leu12854=) c.38557C= (p.Leu12853=) c.35599C= (p.Leu11867=) c.17215C= (p.Leu5739=) c.38710C= (p.Leu12904=) c.38707C= (p.Leu12903=) c.38140C= (p.Leu12714=) c.35482C= (p.Leu11828=) c.35401C= (p.Leu11801=) c.17164C= (p.Leu5722=) c.7018C= (p.Leu2340=) | |
| 2 | g.178630253G>T | CA349645172 | TTN | c.36565C>A (p.Leu12189Ile) c.17650C>A (p.Leu5884Ile) c.17449C>A (p.Leu5817Ile) c.17074C>A (p.Leu5692Ile) c.44269C>A (p.Leu14757Ile) c.39346C>A (p.Leu13116Ile) c.43366C>A (p.Leu14456Ile) c.17260C>A (p.Leu5754Ile) c.17119C>A (p.Leu5707Ile) c.43162C>A (p.Leu14388Ile) c.38560C>A (p.Leu12854Ile) c.38557C>A (p.Leu12853Ile) c.35599C>A (p.Leu11867Ile) c.17215C>A (p.Leu5739Ile) c.38710C>A (p.Leu12904Ile) c.38707C>A (p.Leu12903Ile) c.38140C>A (p.Leu12714Ile) c.35482C>A (p.Leu11828Ile) c.35401C>A (p.Leu11801Ile) c.17164C>A (p.Leu5722Ile) c.7018C>A (p.Leu2340Ile) | |
| 2 | g.178630254G>A | CA1995706 | TTN | c.36564C>T (p.His12188=) c.17649C>T (p.His5883=) c.17448C>T (p.His5816=) c.17073C>T (p.His5691=) c.44268C>T (p.His14756=) c.39345C>T (p.His13115=) c.43365C>T (p.His14455=) c.17259C>T (p.His5753=) c.17118C>T (p.His5706=) c.43161C>T (p.His14387=) c.38559C>T (p.His12853=) c.38556C>T (p.His12852=) c.35598C>T (p.His11866=) c.17214C>T (p.His5738=) c.38709C>T (p.His12903=) c.38706C>T (p.His12902=) c.38139C>T (p.His12713=) c.35481C>T (p.His11827=) c.35400C>T (p.His11800=) c.17163C>T (p.His5721=) c.7017C>T (p.His2339=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.178630254G>C | CA349645175 | TTN | c.36564C>G (p.His12188Gln) c.17649C>G (p.His5883Gln) c.17448C>G (p.His5816Gln) c.17073C>G (p.His5691Gln) c.44268C>G (p.His14756Gln) c.39345C>G (p.His13115Gln) c.43365C>G (p.His14455Gln) c.17259C>G (p.His5753Gln) c.17118C>G (p.His5706Gln) c.43161C>G (p.His14387Gln) c.38559C>G (p.His12853Gln) c.38556C>G (p.His12852Gln) c.35598C>G (p.His11866Gln) c.17214C>G (p.His5738Gln) c.38709C>G (p.His12903Gln) c.38706C>G (p.His12902Gln) c.38139C>G (p.His12713Gln) c.35481C>G (p.His11827Gln) c.35400C>G (p.His11800Gln) c.17163C>G (p.His5721Gln) c.7017C>G (p.His2339Gln) | |
| 2 | g.178630254G= | CA1310555902 | TTN | c.36564C= (p.His12188=) c.17649C= (p.His5883=) c.17448C= (p.His5816=) c.17073C= (p.His5691=) c.44268C= (p.His14756=) c.39345C= (p.His13115=) c.43365C= (p.His14455=) c.17259C= (p.His5753=) c.17118C= (p.His5706=) c.43161C= (p.His14387=) c.38559C= (p.His12853=) c.38556C= (p.His12852=) c.35598C= (p.His11866=) c.17214C= (p.His5738=) c.38709C= (p.His12903=) c.38706C= (p.His12902=) c.38139C= (p.His12713=) c.35481C= (p.His11827=) c.35400C= (p.His11800=) c.17163C= (p.His5721=) c.7017C= (p.His2339=) | |
| 2 | g.178630254G>T | CA349645178 | TTN | c.36564C>A (p.His12188Gln) c.17649C>A (p.His5883Gln) c.17448C>A (p.His5816Gln) c.17073C>A (p.His5691Gln) c.44268C>A (p.His14756Gln) c.39345C>A (p.His13115Gln) c.43365C>A (p.His14455Gln) c.17259C>A (p.His5753Gln) c.17118C>A (p.His5706Gln) c.43161C>A (p.His14387Gln) c.38559C>A (p.His12853Gln) c.38556C>A (p.His12852Gln) c.35598C>A (p.His11866Gln) c.17214C>A (p.His5738Gln) c.38709C>A (p.His12903Gln) c.38706C>A (p.His12902Gln) c.38139C>A (p.His12713Gln) c.35481C>A (p.His11827Gln) c.35400C>A (p.His11800Gln) c.17163C>A (p.His5721Gln) c.7017C>A (p.His2339Gln) | |
| 2 | g.178630255T>A | CA349645181 | TTN | c.36563A>T (p.His12188Leu) c.17648A>T (p.His5883Leu) c.17447A>T (p.His5816Leu) c.17072A>T (p.His5691Leu) c.44267A>T (p.His14756Leu) c.39344A>T (p.His13115Leu) c.43364A>T (p.His14455Leu) c.17258A>T (p.His5753Leu) c.17117A>T (p.His5706Leu) c.43160A>T (p.His14387Leu) c.38558A>T (p.His12853Leu) c.38555A>T (p.His12852Leu) c.35597A>T (p.His11866Leu) c.17213A>T (p.His5738Leu) c.38708A>T (p.His12903Leu) c.38705A>T (p.His12902Leu) c.38138A>T (p.His12713Leu) c.35480A>T (p.His11827Leu) c.35399A>T (p.His11800Leu) c.17162A>T (p.His5721Leu) c.7016A>T (p.His2339Leu) | |
| 2 | g.178630255T>C | CA349645184 | TTN | c.36563A>G (p.His12188Arg) c.17648A>G (p.His5883Arg) c.17447A>G (p.His5816Arg) c.17072A>G (p.His5691Arg) c.44267A>G (p.His14756Arg) c.39344A>G (p.His13115Arg) c.43364A>G (p.His14455Arg) c.17258A>G (p.His5753Arg) c.17117A>G (p.His5706Arg) c.43160A>G (p.His14387Arg) c.38558A>G (p.His12853Arg) c.38555A>G (p.His12852Arg) c.35597A>G (p.His11866Arg) c.17213A>G (p.His5738Arg) c.38708A>G (p.His12903Arg) c.38705A>G (p.His12902Arg) c.38138A>G (p.His12713Arg) c.35480A>G (p.His11827Arg) c.35399A>G (p.His11800Arg) c.17162A>G (p.His5721Arg) c.7016A>G (p.His2339Arg) | |
| 2 | g.178630255T>G | CA349645187 | TTN | c.36563A>C (p.His12188Pro) c.17648A>C (p.His5883Pro) c.17447A>C (p.His5816Pro) c.17072A>C (p.His5691Pro) c.44267A>C (p.His14756Pro) c.39344A>C (p.His13115Pro) c.43364A>C (p.His14455Pro) c.17258A>C (p.His5753Pro) c.17117A>C (p.His5706Pro) c.43160A>C (p.His14387Pro) c.38558A>C (p.His12853Pro) c.38555A>C (p.His12852Pro) c.35597A>C (p.His11866Pro) c.17213A>C (p.His5738Pro) c.38708A>C (p.His12903Pro) c.38705A>C (p.His12902Pro) c.38138A>C (p.His12713Pro) c.35480A>C (p.His11827Pro) c.35399A>C (p.His11800Pro) c.17162A>C (p.His5721Pro) c.7016A>C (p.His2339Pro) | ClinVar dbSNP |
| 2 | g.178630256G>A | CA1995707 | TTN | c.36562C>T (p.His12188Tyr) c.17647C>T (p.His5883Tyr) c.17446C>T (p.His5816Tyr) c.17071C>T (p.His5691Tyr) c.44266C>T (p.His14756Tyr) c.39343C>T (p.His13115Tyr) c.43363C>T (p.His14455Tyr) c.17257C>T (p.His5753Tyr) c.17116C>T (p.His5706Tyr) c.43159C>T (p.His14387Tyr) c.38557C>T (p.His12853Tyr) c.38554C>T (p.His12852Tyr) c.35596C>T (p.His11866Tyr) c.17212C>T (p.His5738Tyr) c.38707C>T (p.His12903Tyr) c.38704C>T (p.His12902Tyr) c.38137C>T (p.His12713Tyr) c.35479C>T (p.His11827Tyr) c.35398C>T (p.His11800Tyr) c.17161C>T (p.His5721Tyr) c.7015C>T (p.His2339Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |