Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.178532050_178532065delinsAGACACTGGCCTCATT | CA1310518050 | TTN,TTN-AS1 | c.96846_96861delinsAATGAGGCCAGTGTCT (p.Leu32282=) c.77931_77946delinsAATGAGGCCAGTGTCT (p.Leu25977=) c.77730_77745delinsAATGAGGCCAGTGTCT (p.Leu25910=) c.77355_77370delinsAATGAGGCCAGTGTCT (p.Leu25785=) c.104550_104565delinsAATGAGGCCAGTGTCT (p.Leu34850=) c.99627_99642delinsAATGAGGCCAGTGTCT (p.Leu33209=) n.446+8414_446+8429delinsAGACACTGGCCTCATT n.220-3682_220-3667delinsAGACACTGGCCTCATT c.103647_103662delinsAATGAGGCCAGTGTCT (p.Leu34549=) c.77541_77556delinsAATGAGGCCAGTGTCT (p.Leu25847=) c.77400_77415delinsAATGAGGCCAGTGTCT (p.Leu25800=) c.103443_103458delinsAATGAGGCCAGTGTCT (p.Leu34481=) c.98841_98856delinsAATGAGGCCAGTGTCT (p.Leu32947=) c.98838_98853delinsAATGAGGCCAGTGTCT (p.Leu32946=) c.95880_95895delinsAATGAGGCCAGTGTCT (p.Leu31960=) c.77496_77511delinsAATGAGGCCAGTGTCT (p.Leu25832=) c.98991_99006delinsAATGAGGCCAGTGTCT (p.Leu32997=) c.98988_99003delinsAATGAGGCCAGTGTCT (p.Leu32996=) c.98421_98436delinsAATGAGGCCAGTGTCT (p.Leu32807=) c.95763_95778delinsAATGAGGCCAGTGTCT (p.Leu31921=) c.95682_95697delinsAATGAGGCCAGTGTCT (p.Leu31894=) c.77445_77460delinsAATGAGGCCAGTGTCT (p.Leu25815=) c.67299_67314delinsAATGAGGCCAGTGTCT (p.Leu22433=) | |
2 | g.178532051_178532065del | CA1039708635 | TTN,TTN-AS1 | c.96846_96860del (p.Leu32282_Ser32287delinsPhe) c.77931_77945del (p.Leu25977_Ser25982delinsPhe) c.77730_77744del (p.Leu25910_Ser25915delinsPhe) c.77355_77369del (p.Leu25785_Ser25790delinsPhe) c.104550_104564del (p.Leu34850_Ser34855delinsPhe) c.99627_99641del (p.Leu33209_Ser33214delinsPhe) n.446+8415_446+8429del n.220-3681_220-3667del c.103647_103661del (p.Leu34549_Ser34554delinsPhe) c.77541_77555del (p.Leu25847_Ser25852delinsPhe) c.77400_77414del (p.Leu25800_Ser25805delinsPhe) c.103443_103457del (p.Leu34481_Ser34486delinsPhe) c.98841_98855del (p.Leu32947_Ser32952delinsPhe) c.98838_98852del (p.Leu32946_Ser32951delinsPhe) c.95880_95894del (p.Leu31960_Ser31965delinsPhe) c.77496_77510del (p.Leu25832_Ser25837delinsPhe) c.98991_99005del (p.Leu32997_Ser33002delinsPhe) c.98988_99002del (p.Leu32996_Ser33001delinsPhe) c.98421_98435del (p.Leu32807_Ser32812delinsPhe) c.95763_95777del (p.Leu31921_Ser31926delinsPhe) c.95682_95696del (p.Leu31894_Ser31899delinsPhe) c.77445_77459del (p.Leu25815_Ser25820delinsPhe) c.67299_67313del (p.Leu22433_Ser22438delinsPhe) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178532058G>A | CA349411405 | TTN,TTN-AS1 | c.96853C>T (p.Pro32285Ser) c.77938C>T (p.Pro25980Ser) c.77737C>T (p.Pro25913Ser) c.77362C>T (p.Pro25788Ser) c.104557C>T (p.Pro34853Ser) c.99634C>T (p.Pro33212Ser) n.446+8422G>A n.220-3674G>A c.103654C>T (p.Pro34552Ser) c.77548C>T (p.Pro25850Ser) c.77407C>T (p.Pro25803Ser) c.103450C>T (p.Pro34484Ser) c.98848C>T (p.Pro32950Ser) c.98845C>T (p.Pro32949Ser) c.95887C>T (p.Pro31963Ser) c.77503C>T (p.Pro25835Ser) c.98998C>T (p.Pro33000Ser) c.98995C>T (p.Pro32999Ser) c.98428C>T (p.Pro32810Ser) c.95770C>T (p.Pro31924Ser) c.95689C>T (p.Pro31897Ser) c.77452C>T (p.Pro25818Ser) c.67306C>T (p.Pro22436Ser) | |
2 | g.178532058G>C | CA349411406 | TTN,TTN-AS1 | c.96853C>G (p.Pro32285Ala) c.77938C>G (p.Pro25980Ala) c.77737C>G (p.Pro25913Ala) c.77362C>G (p.Pro25788Ala) c.104557C>G (p.Pro34853Ala) c.99634C>G (p.Pro33212Ala) n.446+8422G>C n.220-3674G>C c.103654C>G (p.Pro34552Ala) c.77548C>G (p.Pro25850Ala) c.77407C>G (p.Pro25803Ala) c.103450C>G (p.Pro34484Ala) c.98848C>G (p.Pro32950Ala) c.98845C>G (p.Pro32949Ala) c.95887C>G (p.Pro31963Ala) c.77503C>G (p.Pro25835Ala) c.98998C>G (p.Pro33000Ala) c.98995C>G (p.Pro32999Ala) c.98428C>G (p.Pro32810Ala) c.95770C>G (p.Pro31924Ala) c.95689C>G (p.Pro31897Ala) c.77452C>G (p.Pro25818Ala) c.67306C>G (p.Pro22436Ala) | |
2 | g.178532058G>T | CA349411407 | TTN,TTN-AS1 | c.96853C>A (p.Pro32285Thr) c.77938C>A (p.Pro25980Thr) c.77737C>A (p.Pro25913Thr) c.77362C>A (p.Pro25788Thr) c.104557C>A (p.Pro34853Thr) c.99634C>A (p.Pro33212Thr) n.446+8422G>T n.220-3674G>T c.103654C>A (p.Pro34552Thr) c.77548C>A (p.Pro25850Thr) c.77407C>A (p.Pro25803Thr) c.103450C>A (p.Pro34484Thr) c.98848C>A (p.Pro32950Thr) c.98845C>A (p.Pro32949Thr) c.95887C>A (p.Pro31963Thr) c.77503C>A (p.Pro25835Thr) c.98998C>A (p.Pro33000Thr) c.98995C>A (p.Pro32999Thr) c.98428C>A (p.Pro32810Thr) c.95770C>A (p.Pro31924Thr) c.95689C>A (p.Pro31897Thr) c.77452C>A (p.Pro25818Thr) c.67306C>A (p.Pro22436Thr) | |
2 | g.178532059C>A | CA349411408 | TTN,TTN-AS1 | c.96852G>T (p.Arg32284Ser) c.77937G>T (p.Arg25979Ser) c.77736G>T (p.Arg25912Ser) c.77361G>T (p.Arg25787Ser) c.104556G>T (p.Arg34852Ser) c.99633G>T (p.Arg33211Ser) n.446+8423C>A n.220-3673C>A c.103653G>T (p.Arg34551Ser) c.77547G>T (p.Arg25849Ser) c.77406G>T (p.Arg25802Ser) c.103449G>T (p.Arg34483Ser) c.98847G>T (p.Arg32949Ser) c.98844G>T (p.Arg32948Ser) c.95886G>T (p.Arg31962Ser) c.77502G>T (p.Arg25834Ser) c.98997G>T (p.Arg32999Ser) c.98994G>T (p.Arg32998Ser) c.98427G>T (p.Arg32809Ser) c.95769G>T (p.Arg31923Ser) c.95688G>T (p.Arg31896Ser) c.77451G>T (p.Arg25817Ser) c.67305G>T (p.Arg22435Ser) | |
2 | g.178532059C>G | CA349411409 | TTN,TTN-AS1 | c.96852G>C (p.Arg32284Ser) c.77937G>C (p.Arg25979Ser) c.77736G>C (p.Arg25912Ser) c.77361G>C (p.Arg25787Ser) c.104556G>C (p.Arg34852Ser) c.99633G>C (p.Arg33211Ser) n.446+8423C>G n.220-3673C>G c.103653G>C (p.Arg34551Ser) c.77547G>C (p.Arg25849Ser) c.77406G>C (p.Arg25802Ser) c.103449G>C (p.Arg34483Ser) c.98847G>C (p.Arg32949Ser) c.98844G>C (p.Arg32948Ser) c.95886G>C (p.Arg31962Ser) c.77502G>C (p.Arg25834Ser) c.98997G>C (p.Arg32999Ser) c.98994G>C (p.Arg32998Ser) c.98427G>C (p.Arg32809Ser) c.95769G>C (p.Arg31923Ser) c.95688G>C (p.Arg31896Ser) c.77451G>C (p.Arg25817Ser) c.67305G>C (p.Arg22435Ser) | |
2 | g.178532059C>T | CA430235808 | TTN,TTN-AS1 | c.96852G>A (p.Arg32284=) c.77937G>A (p.Arg25979=) c.77736G>A (p.Arg25912=) c.77361G>A (p.Arg25787=) c.104556G>A (p.Arg34852=) c.99633G>A (p.Arg33211=) n.446+8423C>T n.220-3673C>T c.103653G>A (p.Arg34551=) c.77547G>A (p.Arg25849=) c.77406G>A (p.Arg25802=) c.103449G>A (p.Arg34483=) c.98847G>A (p.Arg32949=) c.98844G>A (p.Arg32948=) c.95886G>A (p.Arg31962=) c.77502G>A (p.Arg25834=) c.98997G>A (p.Arg32999=) c.98994G>A (p.Arg32998=) c.98427G>A (p.Arg32809=) c.95769G>A (p.Arg31923=) c.95688G>A (p.Arg31896=) c.77451G>A (p.Arg25817=) c.67305G>A (p.Arg22435=) | |
2 | g.178532060C>A | CA349411410 | TTN,TTN-AS1 | c.96851G>T (p.Arg32284Met) c.77936G>T (p.Arg25979Met) c.77735G>T (p.Arg25912Met) c.77360G>T (p.Arg25787Met) c.104555G>T (p.Arg34852Met) c.99632G>T (p.Arg33211Met) n.446+8424C>A n.220-3672C>A c.103652G>T (p.Arg34551Met) c.77546G>T (p.Arg25849Met) c.77405G>T (p.Arg25802Met) c.103448G>T (p.Arg34483Met) c.98846G>T (p.Arg32949Met) c.98843G>T (p.Arg32948Met) c.95885G>T (p.Arg31962Met) c.77501G>T (p.Arg25834Met) c.98996G>T (p.Arg32999Met) c.98993G>T (p.Arg32998Met) c.98426G>T (p.Arg32809Met) c.95768G>T (p.Arg31923Met) c.95687G>T (p.Arg31896Met) c.77450G>T (p.Arg25817Met) c.67304G>T (p.Arg22435Met) | |
2 | g.178532060C= | CA1310518057 | TTN,TTN-AS1 | c.96851G= (p.Arg32284=) c.77936G= (p.Arg25979=) c.77735G= (p.Arg25912=) c.77360G= (p.Arg25787=) c.104555G= (p.Arg34852=) c.99632G= (p.Arg33211=) n.446+8424C= n.220-3672C= c.103652G= (p.Arg34551=) c.77546G= (p.Arg25849=) c.77405G= (p.Arg25802=) c.103448G= (p.Arg34483=) c.98846G= (p.Arg32949=) c.98843G= (p.Arg32948=) c.95885G= (p.Arg31962=) c.77501G= (p.Arg25834=) c.98996G= (p.Arg32999=) c.98993G= (p.Arg32998=) c.98426G= (p.Arg32809=) c.95768G= (p.Arg31923=) c.95687G= (p.Arg31896=) c.77450G= (p.Arg25817=) c.67304G= (p.Arg22435=) | |
2 | g.178532060C>G | CA349411411 | TTN,TTN-AS1 | c.96851G>C (p.Arg32284Thr) c.77936G>C (p.Arg25979Thr) c.77735G>C (p.Arg25912Thr) c.77360G>C (p.Arg25787Thr) c.104555G>C (p.Arg34852Thr) c.99632G>C (p.Arg33211Thr) n.446+8424C>G n.220-3672C>G c.103652G>C (p.Arg34551Thr) c.77546G>C (p.Arg25849Thr) c.77405G>C (p.Arg25802Thr) c.103448G>C (p.Arg34483Thr) c.98846G>C (p.Arg32949Thr) c.98843G>C (p.Arg32948Thr) c.95885G>C (p.Arg31962Thr) c.77501G>C (p.Arg25834Thr) c.98996G>C (p.Arg32999Thr) c.98993G>C (p.Arg32998Thr) c.98426G>C (p.Arg32809Thr) c.95768G>C (p.Arg31923Thr) c.95687G>C (p.Arg31896Thr) c.77450G>C (p.Arg25817Thr) c.67304G>C (p.Arg22435Thr) | |
2 | g.178532060C>T | CA349411412 | TTN,TTN-AS1 | c.96851G>A (p.Arg32284Lys) c.77936G>A (p.Arg25979Lys) c.77735G>A (p.Arg25912Lys) c.77360G>A (p.Arg25787Lys) c.104555G>A (p.Arg34852Lys) c.99632G>A (p.Arg33211Lys) n.446+8424C>T n.220-3672C>T c.103652G>A (p.Arg34551Lys) c.77546G>A (p.Arg25849Lys) c.77405G>A (p.Arg25802Lys) c.103448G>A (p.Arg34483Lys) c.98846G>A (p.Arg32949Lys) c.98843G>A (p.Arg32948Lys) c.95885G>A (p.Arg31962Lys) c.77501G>A (p.Arg25834Lys) c.98996G>A (p.Arg32999Lys) c.98993G>A (p.Arg32998Lys) c.98426G>A (p.Arg32809Lys) c.95768G>A (p.Arg31923Lys) c.95687G>A (p.Arg31896Lys) c.77450G>A (p.Arg25817Lys) c.67304G>A (p.Arg22435Lys) | dbSNP gnomAD v4 |
2 | g.178532061T>A | CA349411413 | TTN,TTN-AS1 | c.96850A>T (p.Arg32284Trp) c.77935A>T (p.Arg25979Trp) c.77734A>T (p.Arg25912Trp) c.77359A>T (p.Arg25787Trp) c.104554A>T (p.Arg34852Trp) c.99631A>T (p.Arg33211Trp) n.446+8425T>A n.220-3671T>A c.103651A>T (p.Arg34551Trp) c.77545A>T (p.Arg25849Trp) c.77404A>T (p.Arg25802Trp) c.103447A>T (p.Arg34483Trp) c.98845A>T (p.Arg32949Trp) c.98842A>T (p.Arg32948Trp) c.95884A>T (p.Arg31962Trp) c.77500A>T (p.Arg25834Trp) c.98995A>T (p.Arg32999Trp) c.98992A>T (p.Arg32998Trp) c.98425A>T (p.Arg32809Trp) c.95767A>T (p.Arg31923Trp) c.95686A>T (p.Arg31896Trp) c.77449A>T (p.Arg25817Trp) c.67303A>T (p.Arg22435Trp) | |
2 | g.178532061T>C | CA349411414 | TTN,TTN-AS1 | c.96850A>G (p.Arg32284Gly) c.77935A>G (p.Arg25979Gly) c.77734A>G (p.Arg25912Gly) c.77359A>G (p.Arg25787Gly) c.104554A>G (p.Arg34852Gly) c.99631A>G (p.Arg33211Gly) n.446+8425T>C n.220-3671T>C c.103651A>G (p.Arg34551Gly) c.77545A>G (p.Arg25849Gly) c.77404A>G (p.Arg25802Gly) c.103447A>G (p.Arg34483Gly) c.98845A>G (p.Arg32949Gly) c.98842A>G (p.Arg32948Gly) c.95884A>G (p.Arg31962Gly) c.77500A>G (p.Arg25834Gly) c.98995A>G (p.Arg32999Gly) c.98992A>G (p.Arg32998Gly) c.98425A>G (p.Arg32809Gly) c.95767A>G (p.Arg31923Gly) c.95686A>G (p.Arg31896Gly) c.77449A>G (p.Arg25817Gly) c.67303A>G (p.Arg22435Gly) | dbSNP |
2 | g.178532061T>G | CA430235813 | TTN,TTN-AS1 | c.96850A>C (p.Arg32284=) c.77935A>C (p.Arg25979=) c.77734A>C (p.Arg25912=) c.77359A>C (p.Arg25787=) c.104554A>C (p.Arg34852=) c.99631A>C (p.Arg33211=) n.446+8425T>G n.220-3671T>G c.103651A>C (p.Arg34551=) c.77545A>C (p.Arg25849=) c.77404A>C (p.Arg25802=) c.103447A>C (p.Arg34483=) c.98845A>C (p.Arg32949=) c.98842A>C (p.Arg32948=) c.95884A>C (p.Arg31962=) c.77500A>C (p.Arg25834=) c.98995A>C (p.Arg32999=) c.98992A>C (p.Arg32998=) c.98425A>C (p.Arg32809=) c.95767A>C (p.Arg31923=) c.95686A>C (p.Arg31896=) c.77449A>C (p.Arg25817=) c.67303A>C (p.Arg22435=) | |
2 | g.178532061T= | CA1310518058 | TTN,TTN-AS1 | c.96850A= (p.Arg32284=) c.77935A= (p.Arg25979=) c.77734A= (p.Arg25912=) c.77359A= (p.Arg25787=) c.104554A= (p.Arg34852=) c.99631A= (p.Arg33211=) n.446+8425T= n.220-3671T= c.103651A= (p.Arg34551=) c.77545A= (p.Arg25849=) c.77404A= (p.Arg25802=) c.103447A= (p.Arg34483=) c.98845A= (p.Arg32949=) c.98842A= (p.Arg32948=) c.95884A= (p.Arg31962=) c.77500A= (p.Arg25834=) c.98995A= (p.Arg32999=) c.98992A= (p.Arg32998=) c.98425A= (p.Arg32809=) c.95767A= (p.Arg31923=) c.95686A= (p.Arg31896=) c.77449A= (p.Arg25817=) c.67303A= (p.Arg22435=) | |
2 | g.178532062C>A | CA349411415 | TTN,TTN-AS1 | c.96849G>T (p.Met32283Ile) c.77934G>T (p.Met25978Ile) c.77733G>T (p.Met25911Ile) c.77358G>T (p.Met25786Ile) c.104553G>T (p.Met34851Ile) c.99630G>T (p.Met33210Ile) n.446+8426C>A n.220-3670C>A c.103650G>T (p.Met34550Ile) c.77544G>T (p.Met25848Ile) c.77403G>T (p.Met25801Ile) c.103446G>T (p.Met34482Ile) c.98844G>T (p.Met32948Ile) c.98841G>T (p.Met32947Ile) c.95883G>T (p.Met31961Ile) c.77499G>T (p.Met25833Ile) c.98994G>T (p.Met32998Ile) c.98991G>T (p.Met32997Ile) c.98424G>T (p.Met32808Ile) c.95766G>T (p.Met31922Ile) c.95685G>T (p.Met31895Ile) c.77448G>T (p.Met25816Ile) c.67302G>T (p.Met22434Ile) | |
2 | g.178532062C>G | CA349411416 | TTN,TTN-AS1 | c.96849G>C (p.Met32283Ile) c.77934G>C (p.Met25978Ile) c.77733G>C (p.Met25911Ile) c.77358G>C (p.Met25786Ile) c.104553G>C (p.Met34851Ile) c.99630G>C (p.Met33210Ile) n.446+8426C>G n.220-3670C>G c.103650G>C (p.Met34550Ile) c.77544G>C (p.Met25848Ile) c.77403G>C (p.Met25801Ile) c.103446G>C (p.Met34482Ile) c.98844G>C (p.Met32948Ile) c.98841G>C (p.Met32947Ile) c.95883G>C (p.Met31961Ile) c.77499G>C (p.Met25833Ile) c.98994G>C (p.Met32998Ile) c.98991G>C (p.Met32997Ile) c.98424G>C (p.Met32808Ile) c.95766G>C (p.Met31922Ile) c.95685G>C (p.Met31895Ile) c.77448G>C (p.Met25816Ile) c.67302G>C (p.Met22434Ile) | |
2 | g.178532062C>T | CA349411417 | TTN,TTN-AS1 | c.96849G>A (p.Met32283Ile) c.77934G>A (p.Met25978Ile) c.77733G>A (p.Met25911Ile) c.77358G>A (p.Met25786Ile) c.104553G>A (p.Met34851Ile) c.99630G>A (p.Met33210Ile) n.446+8426C>T n.220-3670C>T c.103650G>A (p.Met34550Ile) c.77544G>A (p.Met25848Ile) c.77403G>A (p.Met25801Ile) c.103446G>A (p.Met34482Ile) c.98844G>A (p.Met32948Ile) c.98841G>A (p.Met32947Ile) c.95883G>A (p.Met31961Ile) c.77499G>A (p.Met25833Ile) c.98994G>A (p.Met32998Ile) c.98991G>A (p.Met32997Ile) c.98424G>A (p.Met32808Ile) c.95766G>A (p.Met31922Ile) c.95685G>A (p.Met31895Ile) c.77448G>A (p.Met25816Ile) c.67302G>A (p.Met22434Ile) | COSMIC COSMIC COSMIC |
2 | g.178532063A>C | CA349411418 | TTN,TTN-AS1 | c.96848T>G (p.Met32283Arg) c.77933T>G (p.Met25978Arg) c.77732T>G (p.Met25911Arg) c.77357T>G (p.Met25786Arg) c.104552T>G (p.Met34851Arg) c.99629T>G (p.Met33210Arg) n.446+8427A>C n.220-3669A>C c.103649T>G (p.Met34550Arg) c.77543T>G (p.Met25848Arg) c.77402T>G (p.Met25801Arg) c.103445T>G (p.Met34482Arg) c.98843T>G (p.Met32948Arg) c.98840T>G (p.Met32947Arg) c.95882T>G (p.Met31961Arg) c.77498T>G (p.Met25833Arg) c.98993T>G (p.Met32998Arg) c.98990T>G (p.Met32997Arg) c.98423T>G (p.Met32808Arg) c.95765T>G (p.Met31922Arg) c.95684T>G (p.Met31895Arg) c.77447T>G (p.Met25816Arg) c.67301T>G (p.Met22434Arg) | |
2 | g.178532063A>G | CA349411419 | TTN,TTN-AS1 | c.96848T>C (p.Met32283Thr) c.77933T>C (p.Met25978Thr) c.77732T>C (p.Met25911Thr) c.77357T>C (p.Met25786Thr) c.104552T>C (p.Met34851Thr) c.99629T>C (p.Met33210Thr) n.446+8427A>G n.220-3669A>G c.103649T>C (p.Met34550Thr) c.77543T>C (p.Met25848Thr) c.77402T>C (p.Met25801Thr) c.103445T>C (p.Met34482Thr) c.98843T>C (p.Met32948Thr) c.98840T>C (p.Met32947Thr) c.95882T>C (p.Met31961Thr) c.77498T>C (p.Met25833Thr) c.98993T>C (p.Met32998Thr) c.98990T>C (p.Met32997Thr) c.98423T>C (p.Met32808Thr) c.95765T>C (p.Met31922Thr) c.95684T>C (p.Met31895Thr) c.77447T>C (p.Met25816Thr) c.67301T>C (p.Met22434Thr) | gnomAD v4 |
2 | g.178532063A>T | CA349411420 | TTN,TTN-AS1 | c.96848T>A (p.Met32283Lys) c.77933T>A (p.Met25978Lys) c.77732T>A (p.Met25911Lys) c.77357T>A (p.Met25786Lys) c.104552T>A (p.Met34851Lys) c.99629T>A (p.Met33210Lys) n.446+8427A>T n.220-3669A>T c.103649T>A (p.Met34550Lys) c.77543T>A (p.Met25848Lys) c.77402T>A (p.Met25801Lys) c.103445T>A (p.Met34482Lys) c.98843T>A (p.Met32948Lys) c.98840T>A (p.Met32947Lys) c.95882T>A (p.Met31961Lys) c.77498T>A (p.Met25833Lys) c.98993T>A (p.Met32998Lys) c.98990T>A (p.Met32997Lys) c.98423T>A (p.Met32808Lys) c.95765T>A (p.Met31922Lys) c.95684T>A (p.Met31895Lys) c.77447T>A (p.Met25816Lys) c.67301T>A (p.Met22434Lys) | |
2 | g.178532064T>A | CA349411421 | TTN,TTN-AS1 | c.96847A>T (p.Met32283Leu) c.77932A>T (p.Met25978Leu) c.77731A>T (p.Met25911Leu) c.77356A>T (p.Met25786Leu) c.104551A>T (p.Met34851Leu) c.99628A>T (p.Met33210Leu) n.446+8428T>A n.220-3668T>A c.103648A>T (p.Met34550Leu) c.77542A>T (p.Met25848Leu) c.77401A>T (p.Met25801Leu) c.103444A>T (p.Met34482Leu) c.98842A>T (p.Met32948Leu) c.98839A>T (p.Met32947Leu) c.95881A>T (p.Met31961Leu) c.77497A>T (p.Met25833Leu) c.98992A>T (p.Met32998Leu) c.98989A>T (p.Met32997Leu) c.98422A>T (p.Met32808Leu) c.95764A>T (p.Met31922Leu) c.95683A>T (p.Met31895Leu) c.77446A>T (p.Met25816Leu) c.67300A>T (p.Met22434Leu) | |
2 | g.178532064T>C | CA349411423 | TTN,TTN-AS1 | c.96847A>G (p.Met32283Val) c.77932A>G (p.Met25978Val) c.77731A>G (p.Met25911Val) c.77356A>G (p.Met25786Val) c.104551A>G (p.Met34851Val) c.99628A>G (p.Met33210Val) n.446+8428T>C n.220-3668T>C c.103648A>G (p.Met34550Val) c.77542A>G (p.Met25848Val) c.77401A>G (p.Met25801Val) c.103444A>G (p.Met34482Val) c.98842A>G (p.Met32948Val) c.98839A>G (p.Met32947Val) c.95881A>G (p.Met31961Val) c.77497A>G (p.Met25833Val) c.98992A>G (p.Met32998Val) c.98989A>G (p.Met32997Val) c.98422A>G (p.Met32808Val) c.95764A>G (p.Met31922Val) c.95683A>G (p.Met31895Val) c.77446A>G (p.Met25816Val) c.67300A>G (p.Met22434Val) | |
2 | g.178532064T>G | CA349411422 | TTN,TTN-AS1 | c.96847A>C (p.Met32283Leu) c.77932A>C (p.Met25978Leu) c.77731A>C (p.Met25911Leu) c.77356A>C (p.Met25786Leu) c.104551A>C (p.Met34851Leu) c.99628A>C (p.Met33210Leu) n.446+8428T>G n.220-3668T>G c.103648A>C (p.Met34550Leu) c.77542A>C (p.Met25848Leu) c.77401A>C (p.Met25801Leu) c.103444A>C (p.Met34482Leu) c.98842A>C (p.Met32948Leu) c.98839A>C (p.Met32947Leu) c.95881A>C (p.Met31961Leu) c.77497A>C (p.Met25833Leu) c.98992A>C (p.Met32998Leu) c.98989A>C (p.Met32997Leu) c.98422A>C (p.Met32808Leu) c.95764A>C (p.Met31922Leu) c.95683A>C (p.Met31895Leu) c.77446A>C (p.Met25816Leu) c.67300A>C (p.Met22434Leu) | |
2 | g.178532065T>A | CA349411424 | TTN,TTN-AS1 | c.96846A>T (p.Leu32282Phe) c.77931A>T (p.Leu25977Phe) c.77730A>T (p.Leu25910Phe) c.77355A>T (p.Leu25785Phe) c.104550A>T (p.Leu34850Phe) c.99627A>T (p.Leu33209Phe) n.446+8429T>A n.220-3667T>A c.103647A>T (p.Leu34549Phe) c.77541A>T (p.Leu25847Phe) c.77400A>T (p.Leu25800Phe) c.103443A>T (p.Leu34481Phe) c.98841A>T (p.Leu32947Phe) c.98838A>T (p.Leu32946Phe) c.95880A>T (p.Leu31960Phe) c.77496A>T (p.Leu25832Phe) c.98991A>T (p.Leu32997Phe) c.98988A>T (p.Leu32996Phe) c.98421A>T (p.Leu32807Phe) c.95763A>T (p.Leu31921Phe) c.95682A>T (p.Leu31894Phe) c.77445A>T (p.Leu25815Phe) c.67299A>T (p.Leu22433Phe) | |
2 | g.178532065T>C | CA430235819 | TTN,TTN-AS1 | c.96846A>G (p.Leu32282=) c.77931A>G (p.Leu25977=) c.77730A>G (p.Leu25910=) c.77355A>G (p.Leu25785=) c.104550A>G (p.Leu34850=) c.99627A>G (p.Leu33209=) n.446+8429T>C n.220-3667T>C c.103647A>G (p.Leu34549=) c.77541A>G (p.Leu25847=) c.77400A>G (p.Leu25800=) c.103443A>G (p.Leu34481=) c.98841A>G (p.Leu32947=) c.98838A>G (p.Leu32946=) c.95880A>G (p.Leu31960=) c.77496A>G (p.Leu25832=) c.98991A>G (p.Leu32997=) c.98988A>G (p.Leu32996=) c.98421A>G (p.Leu32807=) c.95763A>G (p.Leu31921=) c.95682A>G (p.Leu31894=) c.77445A>G (p.Leu25815=) c.67299A>G (p.Leu22433=) | ClinVar dbSNP |
2 | g.178532065T>G | CA349411425 | TTN,TTN-AS1 | c.96846A>C (p.Leu32282Phe) c.77931A>C (p.Leu25977Phe) c.77730A>C (p.Leu25910Phe) c.77355A>C (p.Leu25785Phe) c.104550A>C (p.Leu34850Phe) c.99627A>C (p.Leu33209Phe) n.446+8429T>G n.220-3667T>G c.103647A>C (p.Leu34549Phe) c.77541A>C (p.Leu25847Phe) c.77400A>C (p.Leu25800Phe) c.103443A>C (p.Leu34481Phe) c.98841A>C (p.Leu32947Phe) c.98838A>C (p.Leu32946Phe) c.95880A>C (p.Leu31960Phe) c.77496A>C (p.Leu25832Phe) c.98991A>C (p.Leu32997Phe) c.98988A>C (p.Leu32996Phe) c.98421A>C (p.Leu32807Phe) c.95763A>C (p.Leu31921Phe) c.95682A>C (p.Leu31894Phe) c.77445A>C (p.Leu25815Phe) c.67299A>C (p.Leu22433Phe) | |
2 | g.178532066A>C | CA349411426 | TTN,TTN-AS1 | c.96845T>G (p.Leu32282Ter) c.77930T>G (p.Leu25977Ter) c.77729T>G (p.Leu25910Ter) c.77354T>G (p.Leu25785Ter) c.104549T>G (p.Leu34850Ter) c.99626T>G (p.Leu33209Ter) n.446+8430A>C n.220-3666A>C c.103646T>G (p.Leu34549Ter) c.77540T>G (p.Leu25847Ter) c.77399T>G (p.Leu25800Ter) c.103442T>G (p.Leu34481Ter) c.98840T>G (p.Leu32947Ter) c.98837T>G (p.Leu32946Ter) c.95879T>G (p.Leu31960Ter) c.77495T>G (p.Leu25832Ter) c.98990T>G (p.Leu32997Ter) c.98987T>G (p.Leu32996Ter) c.98420T>G (p.Leu32807Ter) c.95762T>G (p.Leu31921Ter) c.95681T>G (p.Leu31894Ter) c.77444T>G (p.Leu25815Ter) c.67298T>G (p.Leu22433Ter) | |
2 | g.178532066A>G | CA349411427 | TTN,TTN-AS1 | c.96845T>C (p.Leu32282Ser) c.77930T>C (p.Leu25977Ser) c.77729T>C (p.Leu25910Ser) c.77354T>C (p.Leu25785Ser) c.104549T>C (p.Leu34850Ser) c.99626T>C (p.Leu33209Ser) n.446+8430A>G n.220-3666A>G c.103646T>C (p.Leu34549Ser) c.77540T>C (p.Leu25847Ser) c.77399T>C (p.Leu25800Ser) c.103442T>C (p.Leu34481Ser) c.98840T>C (p.Leu32947Ser) c.98837T>C (p.Leu32946Ser) c.95879T>C (p.Leu31960Ser) c.77495T>C (p.Leu25832Ser) c.98990T>C (p.Leu32997Ser) c.98987T>C (p.Leu32996Ser) c.98420T>C (p.Leu32807Ser) c.95762T>C (p.Leu31921Ser) c.95681T>C (p.Leu31894Ser) c.77444T>C (p.Leu25815Ser) c.67298T>C (p.Leu22433Ser) | |
2 | g.178532066A>T | CA349411428 | TTN,TTN-AS1 | c.96845T>A (p.Leu32282Ter) c.77930T>A (p.Leu25977Ter) c.77729T>A (p.Leu25910Ter) c.77354T>A (p.Leu25785Ter) c.104549T>A (p.Leu34850Ter) c.99626T>A (p.Leu33209Ter) n.446+8430A>T n.220-3666A>T c.103646T>A (p.Leu34549Ter) c.77540T>A (p.Leu25847Ter) c.77399T>A (p.Leu25800Ter) c.103442T>A (p.Leu34481Ter) c.98840T>A (p.Leu32947Ter) c.98837T>A (p.Leu32946Ter) c.95879T>A (p.Leu31960Ter) c.77495T>A (p.Leu25832Ter) c.98990T>A (p.Leu32997Ter) c.98987T>A (p.Leu32996Ter) c.98420T>A (p.Leu32807Ter) c.95762T>A (p.Leu31921Ter) c.95681T>A (p.Leu31894Ter) c.77444T>A (p.Leu25815Ter) c.67298T>A (p.Leu22433Ter) | |
2 | g.178532067A= | CA1310518059 | TTN,TTN-AS1 | c.96844T= (p.Leu32282=) c.77929T= (p.Leu25977=) c.77728T= (p.Leu25910=) c.77353T= (p.Leu25785=) c.104548T= (p.Leu34850=) c.99625T= (p.Leu33209=) n.446+8431A= n.220-3665A= c.103645T= (p.Leu34549=) c.77539T= (p.Leu25847=) c.77398T= (p.Leu25800=) c.103441T= (p.Leu34481=) c.98839T= (p.Leu32947=) c.98836T= (p.Leu32946=) c.95878T= (p.Leu31960=) c.77494T= (p.Leu25832=) c.98989T= (p.Leu32997=) c.98986T= (p.Leu32996=) c.98419T= (p.Leu32807=) c.95761T= (p.Leu31921=) c.95680T= (p.Leu31894=) c.77443T= (p.Leu25815=) c.67297T= (p.Leu22433=) | |
2 | g.178532067A>C | CA349411429 | TTN,TTN-AS1 | c.96844T>G (p.Leu32282Val) c.77929T>G (p.Leu25977Val) c.77728T>G (p.Leu25910Val) c.77353T>G (p.Leu25785Val) c.104548T>G (p.Leu34850Val) c.99625T>G (p.Leu33209Val) n.446+8431A>C n.220-3665A>C c.103645T>G (p.Leu34549Val) c.77539T>G (p.Leu25847Val) c.77398T>G (p.Leu25800Val) c.103441T>G (p.Leu34481Val) c.98839T>G (p.Leu32947Val) c.98836T>G (p.Leu32946Val) c.95878T>G (p.Leu31960Val) c.77494T>G (p.Leu25832Val) c.98989T>G (p.Leu32997Val) c.98986T>G (p.Leu32996Val) c.98419T>G (p.Leu32807Val) c.95761T>G (p.Leu31921Val) c.95680T>G (p.Leu31894Val) c.77443T>G (p.Leu25815Val) c.67297T>G (p.Leu22433Val) | |
2 | g.178532067A>G | CA430235822 | TTN,TTN-AS1 | c.96844T>C (p.Leu32282=) c.77929T>C (p.Leu25977=) c.77728T>C (p.Leu25910=) c.77353T>C (p.Leu25785=) c.104548T>C (p.Leu34850=) c.99625T>C (p.Leu33209=) n.446+8431A>G n.220-3665A>G c.103645T>C (p.Leu34549=) c.77539T>C (p.Leu25847=) c.77398T>C (p.Leu25800=) c.103441T>C (p.Leu34481=) c.98839T>C (p.Leu32947=) c.98836T>C (p.Leu32946=) c.95878T>C (p.Leu31960=) c.77494T>C (p.Leu25832=) c.98989T>C (p.Leu32997=) c.98986T>C (p.Leu32996=) c.98419T>C (p.Leu32807=) c.95761T>C (p.Leu31921=) c.95680T>C (p.Leu31894=) c.77443T>C (p.Leu25815=) c.67297T>C (p.Leu22433=) | |
2 | g.178532067A>T | CA349411430 | TTN,TTN-AS1 | c.96844T>A (p.Leu32282Ile) c.77929T>A (p.Leu25977Ile) c.77728T>A (p.Leu25910Ile) c.77353T>A (p.Leu25785Ile) c.104548T>A (p.Leu34850Ile) c.99625T>A (p.Leu33209Ile) n.446+8431A>T n.220-3665A>T c.103645T>A (p.Leu34549Ile) c.77539T>A (p.Leu25847Ile) c.77398T>A (p.Leu25800Ile) c.103441T>A (p.Leu34481Ile) c.98839T>A (p.Leu32947Ile) c.98836T>A (p.Leu32946Ile) c.95878T>A (p.Leu31960Ile) c.77494T>A (p.Leu25832Ile) c.98989T>A (p.Leu32997Ile) c.98986T>A (p.Leu32996Ile) c.98419T>A (p.Leu32807Ile) c.95761T>A (p.Leu31921Ile) c.95680T>A (p.Leu31894Ile) c.77443T>A (p.Leu25815Ile) c.67297T>A (p.Leu22433Ile) | dbSNP |
2 | g.178532068C>A | CA349411431 | TTN,TTN-AS1 | c.96843G>T (p.Glu32281Asp) c.77928G>T (p.Glu25976Asp) c.77727G>T (p.Glu25909Asp) c.77352G>T (p.Glu25784Asp) c.104547G>T (p.Glu34849Asp) c.99624G>T (p.Glu33208Asp) n.446+8432C>A n.220-3664C>A c.103644G>T (p.Glu34548Asp) c.77538G>T (p.Glu25846Asp) c.77397G>T (p.Glu25799Asp) c.103440G>T (p.Glu34480Asp) c.98838G>T (p.Glu32946Asp) c.98835G>T (p.Glu32945Asp) c.95877G>T (p.Glu31959Asp) c.77493G>T (p.Glu25831Asp) c.98988G>T (p.Glu32996Asp) c.98985G>T (p.Glu32995Asp) c.98418G>T (p.Glu32806Asp) c.95760G>T (p.Glu31920Asp) c.95679G>T (p.Glu31893Asp) c.77442G>T (p.Glu25814Asp) c.67296G>T (p.Glu22432Asp) | |
2 | g.178532068C= | CA1310518060 | TTN,TTN-AS1 | c.96843G= (p.Glu32281=) c.77928G= (p.Glu25976=) c.77727G= (p.Glu25909=) c.77352G= (p.Glu25784=) c.104547G= (p.Glu34849=) c.99624G= (p.Glu33208=) n.446+8432C= n.220-3664C= c.103644G= (p.Glu34548=) c.77538G= (p.Glu25846=) c.77397G= (p.Glu25799=) c.103440G= (p.Glu34480=) c.98838G= (p.Glu32946=) c.98835G= (p.Glu32945=) c.95877G= (p.Glu31959=) c.77493G= (p.Glu25831=) c.98988G= (p.Glu32996=) c.98985G= (p.Glu32995=) c.98418G= (p.Glu32806=) c.95760G= (p.Glu31920=) c.95679G= (p.Glu31893=) c.77442G= (p.Glu25814=) c.67296G= (p.Glu22432=) | |
2 | g.178532068C>G | CA349411432 | TTN,TTN-AS1 | c.96843G>C (p.Glu32281Asp) c.77928G>C (p.Glu25976Asp) c.77727G>C (p.Glu25909Asp) c.77352G>C (p.Glu25784Asp) c.104547G>C (p.Glu34849Asp) c.99624G>C (p.Glu33208Asp) n.446+8432C>G n.220-3664C>G c.103644G>C (p.Glu34548Asp) c.77538G>C (p.Glu25846Asp) c.77397G>C (p.Glu25799Asp) c.103440G>C (p.Glu34480Asp) c.98838G>C (p.Glu32946Asp) c.98835G>C (p.Glu32945Asp) c.95877G>C (p.Glu31959Asp) c.77493G>C (p.Glu25831Asp) c.98988G>C (p.Glu32996Asp) c.98985G>C (p.Glu32995Asp) c.98418G>C (p.Glu32806Asp) c.95760G>C (p.Glu31920Asp) c.95679G>C (p.Glu31893Asp) c.77442G>C (p.Glu25814Asp) c.67296G>C (p.Glu22432Asp) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178532068C>T | CA430235823 | TTN,TTN-AS1 | c.96843G>A (p.Glu32281=) c.77928G>A (p.Glu25976=) c.77727G>A (p.Glu25909=) c.77352G>A (p.Glu25784=) c.104547G>A (p.Glu34849=) c.99624G>A (p.Glu33208=) n.446+8432C>T n.220-3664C>T c.103644G>A (p.Glu34548=) c.77538G>A (p.Glu25846=) c.77397G>A (p.Glu25799=) c.103440G>A (p.Glu34480=) c.98838G>A (p.Glu32946=) c.98835G>A (p.Glu32945=) c.95877G>A (p.Glu31959=) c.77493G>A (p.Glu25831=) c.98988G>A (p.Glu32996=) c.98985G>A (p.Glu32995=) c.98418G>A (p.Glu32806=) c.95760G>A (p.Glu31920=) c.95679G>A (p.Glu31893=) c.77442G>A (p.Glu25814=) c.67296G>A (p.Glu22432=) | |
2 | g.178532069T>A | CA349411433 | TTN,TTN-AS1 | c.96842A>T (p.Glu32281Val) c.77927A>T (p.Glu25976Val) c.77726A>T (p.Glu25909Val) c.77351A>T (p.Glu25784Val) c.104546A>T (p.Glu34849Val) c.99623A>T (p.Glu33208Val) n.446+8433T>A n.220-3663T>A c.103643A>T (p.Glu34548Val) c.77537A>T (p.Glu25846Val) c.77396A>T (p.Glu25799Val) c.103439A>T (p.Glu34480Val) c.98837A>T (p.Glu32946Val) c.98834A>T (p.Glu32945Val) c.95876A>T (p.Glu31959Val) c.77492A>T (p.Glu25831Val) c.98987A>T (p.Glu32996Val) c.98984A>T (p.Glu32995Val) c.98417A>T (p.Glu32806Val) c.95759A>T (p.Glu31920Val) c.95678A>T (p.Glu31893Val) c.77441A>T (p.Glu25814Val) c.67295A>T (p.Glu22432Val) | |
2 | g.178532069T>C | CA349411434 | TTN,TTN-AS1 | c.96842A>G (p.Glu32281Gly) c.77927A>G (p.Glu25976Gly) c.77726A>G (p.Glu25909Gly) c.77351A>G (p.Glu25784Gly) c.104546A>G (p.Glu34849Gly) c.99623A>G (p.Glu33208Gly) n.446+8433T>C n.220-3663T>C c.103643A>G (p.Glu34548Gly) c.77537A>G (p.Glu25846Gly) c.77396A>G (p.Glu25799Gly) c.103439A>G (p.Glu34480Gly) c.98837A>G (p.Glu32946Gly) c.98834A>G (p.Glu32945Gly) c.95876A>G (p.Glu31959Gly) c.77492A>G (p.Glu25831Gly) c.98987A>G (p.Glu32996Gly) c.98984A>G (p.Glu32995Gly) c.98417A>G (p.Glu32806Gly) c.95759A>G (p.Glu31920Gly) c.95678A>G (p.Glu31893Gly) c.77441A>G (p.Glu25814Gly) c.67295A>G (p.Glu22432Gly) | |
2 | g.178532069T>G | CA349411435 | TTN,TTN-AS1 | c.96842A>C (p.Glu32281Ala) c.77927A>C (p.Glu25976Ala) c.77726A>C (p.Glu25909Ala) c.77351A>C (p.Glu25784Ala) c.104546A>C (p.Glu34849Ala) c.99623A>C (p.Glu33208Ala) n.446+8433T>G n.220-3663T>G c.103643A>C (p.Glu34548Ala) c.77537A>C (p.Glu25846Ala) c.77396A>C (p.Glu25799Ala) c.103439A>C (p.Glu34480Ala) c.98837A>C (p.Glu32946Ala) c.98834A>C (p.Glu32945Ala) c.95876A>C (p.Glu31959Ala) c.77492A>C (p.Glu25831Ala) c.98987A>C (p.Glu32996Ala) c.98984A>C (p.Glu32995Ala) c.98417A>C (p.Glu32806Ala) c.95759A>C (p.Glu31920Ala) c.95678A>C (p.Glu31893Ala) c.77441A>C (p.Glu25814Ala) c.67295A>C (p.Glu22432Ala) | ClinVar dbSNP |
2 | g.178532069T= | CA1310518061 | TTN,TTN-AS1 | c.96842A= (p.Glu32281=) c.77927A= (p.Glu25976=) c.77726A= (p.Glu25909=) c.77351A= (p.Glu25784=) c.104546A= (p.Glu34849=) c.99623A= (p.Glu33208=) n.446+8433T= n.220-3663T= c.103643A= (p.Glu34548=) c.77537A= (p.Glu25846=) c.77396A= (p.Glu25799=) c.103439A= (p.Glu34480=) c.98837A= (p.Glu32946=) c.98834A= (p.Glu32945=) c.95876A= (p.Glu31959=) c.77492A= (p.Glu25831=) c.98987A= (p.Glu32996=) c.98984A= (p.Glu32995=) c.98417A= (p.Glu32806=) c.95759A= (p.Glu31920=) c.95678A= (p.Glu31893=) c.77441A= (p.Glu25814=) c.67295A= (p.Glu22432=) | |
2 | g.178532070C>A | CA349411436 | TTN,TTN-AS1 | c.96841G>T (p.Glu32281Ter) c.77926G>T (p.Glu25976Ter) c.77725G>T (p.Glu25909Ter) c.77350G>T (p.Glu25784Ter) c.104545G>T (p.Glu34849Ter) c.99622G>T (p.Glu33208Ter) n.446+8434C>A n.220-3662C>A c.103642G>T (p.Glu34548Ter) c.77536G>T (p.Glu25846Ter) c.77395G>T (p.Glu25799Ter) c.103438G>T (p.Glu34480Ter) c.98836G>T (p.Glu32946Ter) c.98833G>T (p.Glu32945Ter) c.95875G>T (p.Glu31959Ter) c.77491G>T (p.Glu25831Ter) c.98986G>T (p.Glu32996Ter) c.98983G>T (p.Glu32995Ter) c.98416G>T (p.Glu32806Ter) c.95758G>T (p.Glu31920Ter) c.95677G>T (p.Glu31893Ter) c.77440G>T (p.Glu25814Ter) c.67294G>T (p.Glu22432Ter) | |
2 | g.178532070C= | CA1310518062 | TTN,TTN-AS1 | c.96841G= (p.Glu32281=) c.77926G= (p.Glu25976=) c.77725G= (p.Glu25909=) c.77350G= (p.Glu25784=) c.104545G= (p.Glu34849=) c.99622G= (p.Glu33208=) n.446+8434C= n.220-3662C= c.103642G= (p.Glu34548=) c.77536G= (p.Glu25846=) c.77395G= (p.Glu25799=) c.103438G= (p.Glu34480=) c.98836G= (p.Glu32946=) c.98833G= (p.Glu32945=) c.95875G= (p.Glu31959=) c.77491G= (p.Glu25831=) c.98986G= (p.Glu32996=) c.98983G= (p.Glu32995=) c.98416G= (p.Glu32806=) c.95758G= (p.Glu31920=) c.95677G= (p.Glu31893=) c.77440G= (p.Glu25814=) c.67294G= (p.Glu22432=) | |
2 | g.178532070C>G | CA349411437 | TTN,TTN-AS1 | c.96841G>C (p.Glu32281Gln) c.77926G>C (p.Glu25976Gln) c.77725G>C (p.Glu25909Gln) c.77350G>C (p.Glu25784Gln) c.104545G>C (p.Glu34849Gln) c.99622G>C (p.Glu33208Gln) n.446+8434C>G n.220-3662C>G c.103642G>C (p.Glu34548Gln) c.77536G>C (p.Glu25846Gln) c.77395G>C (p.Glu25799Gln) c.103438G>C (p.Glu34480Gln) c.98836G>C (p.Glu32946Gln) c.98833G>C (p.Glu32945Gln) c.95875G>C (p.Glu31959Gln) c.77491G>C (p.Glu25831Gln) c.98986G>C (p.Glu32996Gln) c.98983G>C (p.Glu32995Gln) c.98416G>C (p.Glu32806Gln) c.95758G>C (p.Glu31920Gln) c.95677G>C (p.Glu31893Gln) c.77440G>C (p.Glu25814Gln) c.67294G>C (p.Glu22432Gln) | |
2 | g.178532070C>T | CA1985404 | TTN,TTN-AS1 | c.96841G>A (p.Glu32281Lys) c.77926G>A (p.Glu25976Lys) c.77725G>A (p.Glu25909Lys) c.77350G>A (p.Glu25784Lys) c.104545G>A (p.Glu34849Lys) c.99622G>A (p.Glu33208Lys) n.446+8434C>T n.220-3662C>T c.103642G>A (p.Glu34548Lys) c.77536G>A (p.Glu25846Lys) c.77395G>A (p.Glu25799Lys) c.103438G>A (p.Glu34480Lys) c.98836G>A (p.Glu32946Lys) c.98833G>A (p.Glu32945Lys) c.95875G>A (p.Glu31959Lys) c.77491G>A (p.Glu25831Lys) c.98986G>A (p.Glu32996Lys) c.98983G>A (p.Glu32995Lys) c.98416G>A (p.Glu32806Lys) c.95758G>A (p.Glu31920Lys) c.95677G>A (p.Glu31893Lys) c.77440G>A (p.Glu25814Lys) c.67294G>A (p.Glu22432Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178532071A>C | CA349411438 | TTN,TTN-AS1 | c.96840T>G (p.Ile32280Met) c.77925T>G (p.Ile25975Met) c.77724T>G (p.Ile25908Met) c.77349T>G (p.Ile25783Met) c.104544T>G (p.Ile34848Met) c.99621T>G (p.Ile33207Met) n.446+8435A>C n.220-3661A>C c.103641T>G (p.Ile34547Met) c.77535T>G (p.Ile25845Met) c.77394T>G (p.Ile25798Met) c.103437T>G (p.Ile34479Met) c.98835T>G (p.Ile32945Met) c.98832T>G (p.Ile32944Met) c.95874T>G (p.Ile31958Met) c.77490T>G (p.Ile25830Met) c.98985T>G (p.Ile32995Met) c.98982T>G (p.Ile32994Met) c.98415T>G (p.Ile32805Met) c.95757T>G (p.Ile31919Met) c.95676T>G (p.Ile31892Met) c.77439T>G (p.Ile25813Met) c.67293T>G (p.Ile22431Met) | gnomAD v4 |
2 | g.178532071A>G | CA430235828 | TTN,TTN-AS1 | c.96840T>C (p.Ile32280=) c.77925T>C (p.Ile25975=) c.77724T>C (p.Ile25908=) c.77349T>C (p.Ile25783=) c.104544T>C (p.Ile34848=) c.99621T>C (p.Ile33207=) n.446+8435A>G n.220-3661A>G c.103641T>C (p.Ile34547=) c.77535T>C (p.Ile25845=) c.77394T>C (p.Ile25798=) c.103437T>C (p.Ile34479=) c.98835T>C (p.Ile32945=) c.98832T>C (p.Ile32944=) c.95874T>C (p.Ile31958=) c.77490T>C (p.Ile25830=) c.98985T>C (p.Ile32995=) c.98982T>C (p.Ile32994=) c.98415T>C (p.Ile32805=) c.95757T>C (p.Ile31919=) c.95676T>C (p.Ile31892=) c.77439T>C (p.Ile25813=) c.67293T>C (p.Ile22431=) | gnomAD v4 |
2 | g.178532071A>T | CA430235829 | TTN,TTN-AS1 | c.96840T>A (p.Ile32280=) c.77925T>A (p.Ile25975=) c.77724T>A (p.Ile25908=) c.77349T>A (p.Ile25783=) c.104544T>A (p.Ile34848=) c.99621T>A (p.Ile33207=) n.446+8435A>T n.220-3661A>T c.103641T>A (p.Ile34547=) c.77535T>A (p.Ile25845=) c.77394T>A (p.Ile25798=) c.103437T>A (p.Ile34479=) c.98835T>A (p.Ile32945=) c.98832T>A (p.Ile32944=) c.95874T>A (p.Ile31958=) c.77490T>A (p.Ile25830=) c.98985T>A (p.Ile32995=) c.98982T>A (p.Ile32994=) c.98415T>A (p.Ile32805=) c.95757T>A (p.Ile31919=) c.95676T>A (p.Ile31892=) c.77439T>A (p.Ile25813=) c.67293T>A (p.Ile22431=) | |
2 | g.178532072A>C | CA349411439 | TTN,TTN-AS1 | c.96839T>G (p.Ile32280Ser) c.77924T>G (p.Ile25975Ser) c.77723T>G (p.Ile25908Ser) c.77348T>G (p.Ile25783Ser) c.104543T>G (p.Ile34848Ser) c.99620T>G (p.Ile33207Ser) n.446+8436A>C n.220-3660A>C c.103640T>G (p.Ile34547Ser) c.77534T>G (p.Ile25845Ser) c.77393T>G (p.Ile25798Ser) c.103436T>G (p.Ile34479Ser) c.98834T>G (p.Ile32945Ser) c.98831T>G (p.Ile32944Ser) c.95873T>G (p.Ile31958Ser) c.77489T>G (p.Ile25830Ser) c.98984T>G (p.Ile32995Ser) c.98981T>G (p.Ile32994Ser) c.98414T>G (p.Ile32805Ser) c.95756T>G (p.Ile31919Ser) c.95675T>G (p.Ile31892Ser) c.77438T>G (p.Ile25813Ser) c.67292T>G (p.Ile22431Ser) | |
2 | g.178532072A>G | CA349411440 | TTN,TTN-AS1 | c.96839T>C (p.Ile32280Thr) c.77924T>C (p.Ile25975Thr) c.77723T>C (p.Ile25908Thr) c.77348T>C (p.Ile25783Thr) c.104543T>C (p.Ile34848Thr) c.99620T>C (p.Ile33207Thr) n.446+8436A>G n.220-3660A>G c.103640T>C (p.Ile34547Thr) c.77534T>C (p.Ile25845Thr) c.77393T>C (p.Ile25798Thr) c.103436T>C (p.Ile34479Thr) c.98834T>C (p.Ile32945Thr) c.98831T>C (p.Ile32944Thr) c.95873T>C (p.Ile31958Thr) c.77489T>C (p.Ile25830Thr) c.98984T>C (p.Ile32995Thr) c.98981T>C (p.Ile32994Thr) c.98414T>C (p.Ile32805Thr) c.95756T>C (p.Ile31919Thr) c.95675T>C (p.Ile31892Thr) c.77438T>C (p.Ile25813Thr) c.67292T>C (p.Ile22431Thr) | gnomAD v4 |
2 | g.178532072A>T | CA349411441 | TTN,TTN-AS1 | c.96839T>A (p.Ile32280Asn) c.77924T>A (p.Ile25975Asn) c.77723T>A (p.Ile25908Asn) c.77348T>A (p.Ile25783Asn) c.104543T>A (p.Ile34848Asn) c.99620T>A (p.Ile33207Asn) n.446+8436A>T n.220-3660A>T c.103640T>A (p.Ile34547Asn) c.77534T>A (p.Ile25845Asn) c.77393T>A (p.Ile25798Asn) c.103436T>A (p.Ile34479Asn) c.98834T>A (p.Ile32945Asn) c.98831T>A (p.Ile32944Asn) c.95873T>A (p.Ile31958Asn) c.77489T>A (p.Ile25830Asn) c.98984T>A (p.Ile32995Asn) c.98981T>A (p.Ile32994Asn) c.98414T>A (p.Ile32805Asn) c.95756T>A (p.Ile31919Asn) c.95675T>A (p.Ile31892Asn) c.77438T>A (p.Ile25813Asn) c.67292T>A (p.Ile22431Asn) | |
2 | g.178532073T>A | CA349411442 | TTN,TTN-AS1 | c.96838A>T (p.Ile32280Phe) c.77923A>T (p.Ile25975Phe) c.77722A>T (p.Ile25908Phe) c.77347A>T (p.Ile25783Phe) c.104542A>T (p.Ile34848Phe) c.99619A>T (p.Ile33207Phe) n.446+8437T>A n.220-3659T>A c.103639A>T (p.Ile34547Phe) c.77533A>T (p.Ile25845Phe) c.77392A>T (p.Ile25798Phe) c.103435A>T (p.Ile34479Phe) c.98833A>T (p.Ile32945Phe) c.98830A>T (p.Ile32944Phe) c.95872A>T (p.Ile31958Phe) c.77488A>T (p.Ile25830Phe) c.98983A>T (p.Ile32995Phe) c.98980A>T (p.Ile32994Phe) c.98413A>T (p.Ile32805Phe) c.95755A>T (p.Ile31919Phe) c.95674A>T (p.Ile31892Phe) c.77437A>T (p.Ile25813Phe) c.67291A>T (p.Ile22431Phe) | |
2 | g.178532073T>C | CA349411443 | TTN,TTN-AS1 | c.96838A>G (p.Ile32280Val) c.77923A>G (p.Ile25975Val) c.77722A>G (p.Ile25908Val) c.77347A>G (p.Ile25783Val) c.104542A>G (p.Ile34848Val) c.99619A>G (p.Ile33207Val) n.446+8437T>C n.220-3659T>C c.103639A>G (p.Ile34547Val) c.77533A>G (p.Ile25845Val) c.77392A>G (p.Ile25798Val) c.103435A>G (p.Ile34479Val) c.98833A>G (p.Ile32945Val) c.98830A>G (p.Ile32944Val) c.95872A>G (p.Ile31958Val) c.77488A>G (p.Ile25830Val) c.98983A>G (p.Ile32995Val) c.98980A>G (p.Ile32994Val) c.98413A>G (p.Ile32805Val) c.95755A>G (p.Ile31919Val) c.95674A>G (p.Ile31892Val) c.77437A>G (p.Ile25813Val) c.67291A>G (p.Ile22431Val) | |
2 | g.178532073T>G | CA349411444 | TTN,TTN-AS1 | c.96838A>C (p.Ile32280Leu) c.77923A>C (p.Ile25975Leu) c.77722A>C (p.Ile25908Leu) c.77347A>C (p.Ile25783Leu) c.104542A>C (p.Ile34848Leu) c.99619A>C (p.Ile33207Leu) n.446+8437T>G n.220-3659T>G c.103639A>C (p.Ile34547Leu) c.77533A>C (p.Ile25845Leu) c.77392A>C (p.Ile25798Leu) c.103435A>C (p.Ile34479Leu) c.98833A>C (p.Ile32945Leu) c.98830A>C (p.Ile32944Leu) c.95872A>C (p.Ile31958Leu) c.77488A>C (p.Ile25830Leu) c.98983A>C (p.Ile32995Leu) c.98980A>C (p.Ile32994Leu) c.98413A>C (p.Ile32805Leu) c.95755A>C (p.Ile31919Leu) c.95674A>C (p.Ile31892Leu) c.77437A>C (p.Ile25813Leu) c.67291A>C (p.Ile22431Leu) | |
2 | g.178532074A= | CA1310518063 | TTN,TTN-AS1 | c.96837T= (p.Tyr32279=) c.77922T= (p.Tyr25974=) c.77721T= (p.Tyr25907=) c.77346T= (p.Tyr25782=) c.104541T= (p.Tyr34847=) c.99618T= (p.Tyr33206=) n.446+8438A= n.220-3658A= c.103638T= (p.Tyr34546=) c.77532T= (p.Tyr25844=) c.77391T= (p.Tyr25797=) c.103434T= (p.Tyr34478=) c.98832T= (p.Tyr32944=) c.98829T= (p.Tyr32943=) c.95871T= (p.Tyr31957=) c.77487T= (p.Tyr25829=) c.98982T= (p.Tyr32994=) c.98979T= (p.Tyr32993=) c.98412T= (p.Tyr32804=) c.95754T= (p.Tyr31918=) c.95673T= (p.Tyr31891=) c.77436T= (p.Tyr25812=) c.67290T= (p.Tyr22430=) | |
2 | g.178532074A>C | CA349411445 | TTN,TTN-AS1 | c.96837T>G (p.Tyr32279Ter) c.77922T>G (p.Tyr25974Ter) c.77721T>G (p.Tyr25907Ter) c.77346T>G (p.Tyr25782Ter) c.104541T>G (p.Tyr34847Ter) c.99618T>G (p.Tyr33206Ter) n.446+8438A>C n.220-3658A>C c.103638T>G (p.Tyr34546Ter) c.77532T>G (p.Tyr25844Ter) c.77391T>G (p.Tyr25797Ter) c.103434T>G (p.Tyr34478Ter) c.98832T>G (p.Tyr32944Ter) c.98829T>G (p.Tyr32943Ter) c.95871T>G (p.Tyr31957Ter) c.77487T>G (p.Tyr25829Ter) c.98982T>G (p.Tyr32994Ter) c.98979T>G (p.Tyr32993Ter) c.98412T>G (p.Tyr32804Ter) c.95754T>G (p.Tyr31918Ter) c.95673T>G (p.Tyr31891Ter) c.77436T>G (p.Tyr25812Ter) c.67290T>G (p.Tyr22430Ter) | |
2 | g.178532074A>G | CA1985405 | TTN,TTN-AS1 | c.96837T>C (p.Tyr32279=) c.77922T>C (p.Tyr25974=) c.77721T>C (p.Tyr25907=) c.77346T>C (p.Tyr25782=) c.104541T>C (p.Tyr34847=) c.99618T>C (p.Tyr33206=) n.446+8438A>G n.220-3658A>G c.103638T>C (p.Tyr34546=) c.77532T>C (p.Tyr25844=) c.77391T>C (p.Tyr25797=) c.103434T>C (p.Tyr34478=) c.98832T>C (p.Tyr32944=) c.98829T>C (p.Tyr32943=) c.95871T>C (p.Tyr31957=) c.77487T>C (p.Tyr25829=) c.98982T>C (p.Tyr32994=) c.98979T>C (p.Tyr32993=) c.98412T>C (p.Tyr32804=) c.95754T>C (p.Tyr31918=) c.95673T>C (p.Tyr31891=) c.77436T>C (p.Tyr25812=) c.67290T>C (p.Tyr22430=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178532074A>T | CA349411446 | TTN,TTN-AS1 | c.96837T>A (p.Tyr32279Ter) c.77922T>A (p.Tyr25974Ter) c.77721T>A (p.Tyr25907Ter) c.77346T>A (p.Tyr25782Ter) c.104541T>A (p.Tyr34847Ter) c.99618T>A (p.Tyr33206Ter) n.446+8438A>T n.220-3658A>T c.103638T>A (p.Tyr34546Ter) c.77532T>A (p.Tyr25844Ter) c.77391T>A (p.Tyr25797Ter) c.103434T>A (p.Tyr34478Ter) c.98832T>A (p.Tyr32944Ter) c.98829T>A (p.Tyr32943Ter) c.95871T>A (p.Tyr31957Ter) c.77487T>A (p.Tyr25829Ter) c.98982T>A (p.Tyr32994Ter) c.98979T>A (p.Tyr32993Ter) c.98412T>A (p.Tyr32804Ter) c.95754T>A (p.Tyr31918Ter) c.95673T>A (p.Tyr31891Ter) c.77436T>A (p.Tyr25812Ter) c.67290T>A (p.Tyr22430Ter) | |
2 | g.178532074_178532075insATAT | CA1985406 | TTN,TTN-AS1 | c.96836_96837insATAT (p.Tyr32279Ter) c.77921_77922insATAT (p.Tyr25974Ter) c.77720_77721insATAT (p.Tyr25907Ter) c.77345_77346insATAT (p.Tyr25782Ter) c.104540_104541insATAT (p.Tyr34847Ter) c.99617_99618insATAT (p.Tyr33206Ter) n.446+8438_446+8439insATAT n.220-3658_220-3657insATAT c.103637_103638insATAT (p.Tyr34546Ter) c.77531_77532insATAT (p.Tyr25844Ter) c.77390_77391insATAT (p.Tyr25797Ter) c.103433_103434insATAT (p.Tyr34478Ter) c.98831_98832insATAT (p.Tyr32944Ter) c.98828_98829insATAT (p.Tyr32943Ter) c.95870_95871insATAT (p.Tyr31957Ter) c.77486_77487insATAT (p.Tyr25829Ter) c.98981_98982insATAT (p.Tyr32994Ter) c.98978_98979insATAT (p.Tyr32993Ter) c.98411_98412insATAT (p.Tyr32804Ter) c.95753_95754insATAT (p.Tyr31918Ter) c.95672_95673insATAT (p.Tyr31891Ter) c.77435_77436insATAT (p.Tyr25812Ter) c.67289_67290insATAT (p.Tyr22430Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178532075T>A | CA349411447 | TTN,TTN-AS1 | c.96836A>T (p.Tyr32279Phe) c.77921A>T (p.Tyr25974Phe) c.77720A>T (p.Tyr25907Phe) c.77345A>T (p.Tyr25782Phe) c.104540A>T (p.Tyr34847Phe) c.99617A>T (p.Tyr33206Phe) n.446+8439T>A n.220-3657T>A c.103637A>T (p.Tyr34546Phe) c.77531A>T (p.Tyr25844Phe) c.77390A>T (p.Tyr25797Phe) c.103433A>T (p.Tyr34478Phe) c.98831A>T (p.Tyr32944Phe) c.98828A>T (p.Tyr32943Phe) c.95870A>T (p.Tyr31957Phe) c.77486A>T (p.Tyr25829Phe) c.98981A>T (p.Tyr32994Phe) c.98978A>T (p.Tyr32993Phe) c.98411A>T (p.Tyr32804Phe) c.95753A>T (p.Tyr31918Phe) c.95672A>T (p.Tyr31891Phe) c.77435A>T (p.Tyr25812Phe) c.67289A>T (p.Tyr22430Phe) | |
2 | g.178532075T>C | CA349411448 | TTN,TTN-AS1 | c.96836A>G (p.Tyr32279Cys) c.77921A>G (p.Tyr25974Cys) c.77720A>G (p.Tyr25907Cys) c.77345A>G (p.Tyr25782Cys) c.104540A>G (p.Tyr34847Cys) c.99617A>G (p.Tyr33206Cys) n.446+8439T>C n.220-3657T>C c.103637A>G (p.Tyr34546Cys) c.77531A>G (p.Tyr25844Cys) c.77390A>G (p.Tyr25797Cys) c.103433A>G (p.Tyr34478Cys) c.98831A>G (p.Tyr32944Cys) c.98828A>G (p.Tyr32943Cys) c.95870A>G (p.Tyr31957Cys) c.77486A>G (p.Tyr25829Cys) c.98981A>G (p.Tyr32994Cys) c.98978A>G (p.Tyr32993Cys) c.98411A>G (p.Tyr32804Cys) c.95753A>G (p.Tyr31918Cys) c.95672A>G (p.Tyr31891Cys) c.77435A>G (p.Tyr25812Cys) c.67289A>G (p.Tyr22430Cys) | |
2 | g.178532075T>G | CA349411449 | TTN,TTN-AS1 | c.96836A>C (p.Tyr32279Ser) c.77921A>C (p.Tyr25974Ser) c.77720A>C (p.Tyr25907Ser) c.77345A>C (p.Tyr25782Ser) c.104540A>C (p.Tyr34847Ser) c.99617A>C (p.Tyr33206Ser) n.446+8439T>G n.220-3657T>G c.103637A>C (p.Tyr34546Ser) c.77531A>C (p.Tyr25844Ser) c.77390A>C (p.Tyr25797Ser) c.103433A>C (p.Tyr34478Ser) c.98831A>C (p.Tyr32944Ser) c.98828A>C (p.Tyr32943Ser) c.95870A>C (p.Tyr31957Ser) c.77486A>C (p.Tyr25829Ser) c.98981A>C (p.Tyr32994Ser) c.98978A>C (p.Tyr32993Ser) c.98411A>C (p.Tyr32804Ser) c.95753A>C (p.Tyr31918Ser) c.95672A>C (p.Tyr31891Ser) c.77435A>C (p.Tyr25812Ser) c.67289A>C (p.Tyr22430Ser) | |
2 | g.178532076A= | CA1310518064 | TTN,TTN-AS1 | c.96835T= (p.Tyr32279=) c.77920T= (p.Tyr25974=) c.77719T= (p.Tyr25907=) c.77344T= (p.Tyr25782=) c.104539T= (p.Tyr34847=) c.99616T= (p.Tyr33206=) n.446+8440A= n.220-3656A= c.103636T= (p.Tyr34546=) c.77530T= (p.Tyr25844=) c.77389T= (p.Tyr25797=) c.103432T= (p.Tyr34478=) c.98830T= (p.Tyr32944=) c.98827T= (p.Tyr32943=) c.95869T= (p.Tyr31957=) c.77485T= (p.Tyr25829=) c.98980T= (p.Tyr32994=) c.98977T= (p.Tyr32993=) c.98410T= (p.Tyr32804=) c.95752T= (p.Tyr31918=) c.95671T= (p.Tyr31891=) c.77434T= (p.Tyr25812=) c.67288T= (p.Tyr22430=) | |
2 | g.178532076A>C | CA349411450 | TTN,TTN-AS1 | c.96835T>G (p.Tyr32279Asp) c.77920T>G (p.Tyr25974Asp) c.77719T>G (p.Tyr25907Asp) c.77344T>G (p.Tyr25782Asp) c.104539T>G (p.Tyr34847Asp) c.99616T>G (p.Tyr33206Asp) n.446+8440A>C n.220-3656A>C c.103636T>G (p.Tyr34546Asp) c.77530T>G (p.Tyr25844Asp) c.77389T>G (p.Tyr25797Asp) c.103432T>G (p.Tyr34478Asp) c.98830T>G (p.Tyr32944Asp) c.98827T>G (p.Tyr32943Asp) c.95869T>G (p.Tyr31957Asp) c.77485T>G (p.Tyr25829Asp) c.98980T>G (p.Tyr32994Asp) c.98977T>G (p.Tyr32993Asp) c.98410T>G (p.Tyr32804Asp) c.95752T>G (p.Tyr31918Asp) c.95671T>G (p.Tyr31891Asp) c.77434T>G (p.Tyr25812Asp) c.67288T>G (p.Tyr22430Asp) | |
2 | g.178532076A>G | CA311190 | TTN,TTN-AS1 | c.96835T>C (p.Tyr32279His) c.77920T>C (p.Tyr25974His) c.77719T>C (p.Tyr25907His) c.77344T>C (p.Tyr25782His) c.104539T>C (p.Tyr34847His) c.99616T>C (p.Tyr33206His) n.446+8440A>G n.220-3656A>G c.103636T>C (p.Tyr34546His) c.77530T>C (p.Tyr25844His) c.77389T>C (p.Tyr25797His) c.103432T>C (p.Tyr34478His) c.98830T>C (p.Tyr32944His) c.98827T>C (p.Tyr32943His) c.95869T>C (p.Tyr31957His) c.77485T>C (p.Tyr25829His) c.98980T>C (p.Tyr32994His) c.98977T>C (p.Tyr32993His) c.98410T>C (p.Tyr32804His) c.95752T>C (p.Tyr31918His) c.95671T>C (p.Tyr31891His) c.77434T>C (p.Tyr25812His) c.67288T>C (p.Tyr22430His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178532076A>T | CA349411451 | TTN,TTN-AS1 | c.96835T>A (p.Tyr32279Asn) c.77920T>A (p.Tyr25974Asn) c.77719T>A (p.Tyr25907Asn) c.77344T>A (p.Tyr25782Asn) c.104539T>A (p.Tyr34847Asn) c.99616T>A (p.Tyr33206Asn) n.446+8440A>T n.220-3656A>T c.103636T>A (p.Tyr34546Asn) c.77530T>A (p.Tyr25844Asn) c.77389T>A (p.Tyr25797Asn) c.103432T>A (p.Tyr34478Asn) c.98830T>A (p.Tyr32944Asn) c.98827T>A (p.Tyr32943Asn) c.95869T>A (p.Tyr31957Asn) c.77485T>A (p.Tyr25829Asn) c.98980T>A (p.Tyr32994Asn) c.98977T>A (p.Tyr32993Asn) c.98410T>A (p.Tyr32804Asn) c.95752T>A (p.Tyr31918Asn) c.95671T>A (p.Tyr31891Asn) c.77434T>A (p.Tyr25812Asn) c.67288T>A (p.Tyr22430Asn) | |
2 | g.178532077A= | CA1310518065 | TTN,TTN-AS1 | c.96834T= (p.Thr32278=) c.77919T= (p.Thr25973=) c.77718T= (p.Thr25906=) c.77343T= (p.Thr25781=) c.104538T= (p.Thr34846=) c.99615T= (p.Thr33205=) n.446+8441A= n.220-3655A= c.103635T= (p.Thr34545=) c.77529T= (p.Thr25843=) c.77388T= (p.Thr25796=) c.103431T= (p.Thr34477=) c.98829T= (p.Thr32943=) c.98826T= (p.Thr32942=) c.95868T= (p.Thr31956=) c.77484T= (p.Thr25828=) c.98979T= (p.Thr32993=) c.98976T= (p.Thr32992=) c.98409T= (p.Thr32803=) c.95751T= (p.Thr31917=) c.95670T= (p.Thr31890=) c.77433T= (p.Thr25811=) c.67287T= (p.Thr22429=) | |
2 | g.178532077A>C | CA430235832 | TTN,TTN-AS1 | c.96834T>G (p.Thr32278=) c.77919T>G (p.Thr25973=) c.77718T>G (p.Thr25906=) c.77343T>G (p.Thr25781=) c.104538T>G (p.Thr34846=) c.99615T>G (p.Thr33205=) n.446+8441A>C n.220-3655A>C c.103635T>G (p.Thr34545=) c.77529T>G (p.Thr25843=) c.77388T>G (p.Thr25796=) c.103431T>G (p.Thr34477=) c.98829T>G (p.Thr32943=) c.98826T>G (p.Thr32942=) c.95868T>G (p.Thr31956=) c.77484T>G (p.Thr25828=) c.98979T>G (p.Thr32993=) c.98976T>G (p.Thr32992=) c.98409T>G (p.Thr32803=) c.95751T>G (p.Thr31917=) c.95670T>G (p.Thr31890=) c.77433T>G (p.Thr25811=) c.67287T>G (p.Thr22429=) | |
2 | g.178532077A>G | CA430235833 | TTN,TTN-AS1 | c.96834T>C (p.Thr32278=) c.77919T>C (p.Thr25973=) c.77718T>C (p.Thr25906=) c.77343T>C (p.Thr25781=) c.104538T>C (p.Thr34846=) c.99615T>C (p.Thr33205=) n.446+8441A>G n.220-3655A>G c.103635T>C (p.Thr34545=) c.77529T>C (p.Thr25843=) c.77388T>C (p.Thr25796=) c.103431T>C (p.Thr34477=) c.98829T>C (p.Thr32943=) c.98826T>C (p.Thr32942=) c.95868T>C (p.Thr31956=) c.77484T>C (p.Thr25828=) c.98979T>C (p.Thr32993=) c.98976T>C (p.Thr32992=) c.98409T>C (p.Thr32803=) c.95751T>C (p.Thr31917=) c.95670T>C (p.Thr31890=) c.77433T>C (p.Thr25811=) c.67287T>C (p.Thr22429=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178532077A>T | CA430235834 | TTN,TTN-AS1 | c.96834T>A (p.Thr32278=) c.77919T>A (p.Thr25973=) c.77718T>A (p.Thr25906=) c.77343T>A (p.Thr25781=) c.104538T>A (p.Thr34846=) c.99615T>A (p.Thr33205=) n.446+8441A>T n.220-3655A>T c.103635T>A (p.Thr34545=) c.77529T>A (p.Thr25843=) c.77388T>A (p.Thr25796=) c.103431T>A (p.Thr34477=) c.98829T>A (p.Thr32943=) c.98826T>A (p.Thr32942=) c.95868T>A (p.Thr31956=) c.77484T>A (p.Thr25828=) c.98979T>A (p.Thr32993=) c.98976T>A (p.Thr32992=) c.98409T>A (p.Thr32803=) c.95751T>A (p.Thr31917=) c.95670T>A (p.Thr31890=) c.77433T>A (p.Thr25811=) c.67287T>A (p.Thr22429=) | |
2 | g.178532078G>A | CA349411452 | TTN,TTN-AS1 | c.96833C>T (p.Thr32278Ile) c.77918C>T (p.Thr25973Ile) c.77717C>T (p.Thr25906Ile) c.77342C>T (p.Thr25781Ile) c.104537C>T (p.Thr34846Ile) c.99614C>T (p.Thr33205Ile) n.446+8442G>A n.220-3654G>A c.103634C>T (p.Thr34545Ile) c.77528C>T (p.Thr25843Ile) c.77387C>T (p.Thr25796Ile) c.103430C>T (p.Thr34477Ile) c.98828C>T (p.Thr32943Ile) c.98825C>T (p.Thr32942Ile) c.95867C>T (p.Thr31956Ile) c.77483C>T (p.Thr25828Ile) c.98978C>T (p.Thr32993Ile) c.98975C>T (p.Thr32992Ile) c.98408C>T (p.Thr32803Ile) c.95750C>T (p.Thr31917Ile) c.95669C>T (p.Thr31890Ile) c.77432C>T (p.Thr25811Ile) c.67286C>T (p.Thr22429Ile) | dbSNP |
2 | g.178532078G>C | CA349411453 | TTN,TTN-AS1 | c.96833C>G (p.Thr32278Ser) c.77918C>G (p.Thr25973Ser) c.77717C>G (p.Thr25906Ser) c.77342C>G (p.Thr25781Ser) c.104537C>G (p.Thr34846Ser) c.99614C>G (p.Thr33205Ser) n.446+8442G>C n.220-3654G>C c.103634C>G (p.Thr34545Ser) c.77528C>G (p.Thr25843Ser) c.77387C>G (p.Thr25796Ser) c.103430C>G (p.Thr34477Ser) c.98828C>G (p.Thr32943Ser) c.98825C>G (p.Thr32942Ser) c.95867C>G (p.Thr31956Ser) c.77483C>G (p.Thr25828Ser) c.98978C>G (p.Thr32993Ser) c.98975C>G (p.Thr32992Ser) c.98408C>G (p.Thr32803Ser) c.95750C>G (p.Thr31917Ser) c.95669C>G (p.Thr31890Ser) c.77432C>G (p.Thr25811Ser) c.67286C>G (p.Thr22429Ser) | |
2 | g.178532078G= | CA1310518066 | TTN,TTN-AS1 | c.96833C= (p.Thr32278=) c.77918C= (p.Thr25973=) c.77717C= (p.Thr25906=) c.77342C= (p.Thr25781=) c.104537C= (p.Thr34846=) c.99614C= (p.Thr33205=) n.446+8442G= n.220-3654G= c.103634C= (p.Thr34545=) c.77528C= (p.Thr25843=) c.77387C= (p.Thr25796=) c.103430C= (p.Thr34477=) c.98828C= (p.Thr32943=) c.98825C= (p.Thr32942=) c.95867C= (p.Thr31956=) c.77483C= (p.Thr25828=) c.98978C= (p.Thr32993=) c.98975C= (p.Thr32992=) c.98408C= (p.Thr32803=) c.95750C= (p.Thr31917=) c.95669C= (p.Thr31890=) c.77432C= (p.Thr25811=) c.67286C= (p.Thr22429=) | |
2 | g.178532078G>T | CA349411454 | TTN,TTN-AS1 | c.96833C>A (p.Thr32278Asn) c.77918C>A (p.Thr25973Asn) c.77717C>A (p.Thr25906Asn) c.77342C>A (p.Thr25781Asn) c.104537C>A (p.Thr34846Asn) c.99614C>A (p.Thr33205Asn) n.446+8442G>T n.220-3654G>T c.103634C>A (p.Thr34545Asn) c.77528C>A (p.Thr25843Asn) c.77387C>A (p.Thr25796Asn) c.103430C>A (p.Thr34477Asn) c.98828C>A (p.Thr32943Asn) c.98825C>A (p.Thr32942Asn) c.95867C>A (p.Thr31956Asn) c.77483C>A (p.Thr25828Asn) c.98978C>A (p.Thr32993Asn) c.98975C>A (p.Thr32992Asn) c.98408C>A (p.Thr32803Asn) c.95750C>A (p.Thr31917Asn) c.95669C>A (p.Thr31890Asn) c.77432C>A (p.Thr25811Asn) c.67286C>A (p.Thr22429Asn) | |
2 | g.178532079T>A | CA349411455 | TTN,TTN-AS1 | c.96832A>T (p.Thr32278Ser) c.77917A>T (p.Thr25973Ser) c.77716A>T (p.Thr25906Ser) c.77341A>T (p.Thr25781Ser) c.104536A>T (p.Thr34846Ser) c.99613A>T (p.Thr33205Ser) n.446+8443T>A n.220-3653T>A c.103633A>T (p.Thr34545Ser) c.77527A>T (p.Thr25843Ser) c.77386A>T (p.Thr25796Ser) c.103429A>T (p.Thr34477Ser) c.98827A>T (p.Thr32943Ser) c.98824A>T (p.Thr32942Ser) c.95866A>T (p.Thr31956Ser) c.77482A>T (p.Thr25828Ser) c.98977A>T (p.Thr32993Ser) c.98974A>T (p.Thr32992Ser) c.98407A>T (p.Thr32803Ser) c.95749A>T (p.Thr31917Ser) c.95668A>T (p.Thr31890Ser) c.77431A>T (p.Thr25811Ser) c.67285A>T (p.Thr22429Ser) | |
2 | g.178532079T>C | CA349411456 | TTN,TTN-AS1 | c.96832A>G (p.Thr32278Ala) c.77917A>G (p.Thr25973Ala) c.77716A>G (p.Thr25906Ala) c.77341A>G (p.Thr25781Ala) c.104536A>G (p.Thr34846Ala) c.99613A>G (p.Thr33205Ala) n.446+8443T>C n.220-3653T>C c.103633A>G (p.Thr34545Ala) c.77527A>G (p.Thr25843Ala) c.77386A>G (p.Thr25796Ala) c.103429A>G (p.Thr34477Ala) c.98827A>G (p.Thr32943Ala) c.98824A>G (p.Thr32942Ala) c.95866A>G (p.Thr31956Ala) c.77482A>G (p.Thr25828Ala) c.98977A>G (p.Thr32993Ala) c.98974A>G (p.Thr32992Ala) c.98407A>G (p.Thr32803Ala) c.95749A>G (p.Thr31917Ala) c.95668A>G (p.Thr31890Ala) c.77431A>G (p.Thr25811Ala) c.67285A>G (p.Thr22429Ala) | gnomAD v4 |
2 | g.178532079T>G | CA349411457 | TTN,TTN-AS1 | c.96832A>C (p.Thr32278Pro) c.77917A>C (p.Thr25973Pro) c.77716A>C (p.Thr25906Pro) c.77341A>C (p.Thr25781Pro) c.104536A>C (p.Thr34846Pro) c.99613A>C (p.Thr33205Pro) n.446+8443T>G n.220-3653T>G c.103633A>C (p.Thr34545Pro) c.77527A>C (p.Thr25843Pro) c.77386A>C (p.Thr25796Pro) c.103429A>C (p.Thr34477Pro) c.98827A>C (p.Thr32943Pro) c.98824A>C (p.Thr32942Pro) c.95866A>C (p.Thr31956Pro) c.77482A>C (p.Thr25828Pro) c.98977A>C (p.Thr32993Pro) c.98974A>C (p.Thr32992Pro) c.98407A>C (p.Thr32803Pro) c.95749A>C (p.Thr31917Pro) c.95668A>C (p.Thr31890Pro) c.77431A>C (p.Thr25811Pro) c.67285A>C (p.Thr22429Pro) | |
2 | g.178532080T>A | CA430235836 | TTN,TTN-AS1 | c.96831A>T (p.Pro32277=) c.77916A>T (p.Pro25972=) c.77715A>T (p.Pro25905=) c.77340A>T (p.Pro25780=) c.104535A>T (p.Pro34845=) c.99612A>T (p.Pro33204=) n.446+8444T>A n.220-3652T>A c.103632A>T (p.Pro34544=) c.77526A>T (p.Pro25842=) c.77385A>T (p.Pro25795=) c.103428A>T (p.Pro34476=) c.98826A>T (p.Pro32942=) c.98823A>T (p.Pro32941=) c.95865A>T (p.Pro31955=) c.77481A>T (p.Pro25827=) c.98976A>T (p.Pro32992=) c.98973A>T (p.Pro32991=) c.98406A>T (p.Pro32802=) c.95748A>T (p.Pro31916=) c.95667A>T (p.Pro31889=) c.77430A>T (p.Pro25810=) c.67284A>T (p.Pro22428=) | |
2 | g.178532080T>C | CA1985407 | TTN,TTN-AS1 | c.96831A>G (p.Pro32277=) c.77916A>G (p.Pro25972=) c.77715A>G (p.Pro25905=) c.77340A>G (p.Pro25780=) c.104535A>G (p.Pro34845=) c.99612A>G (p.Pro33204=) n.446+8444T>C n.220-3652T>C c.103632A>G (p.Pro34544=) c.77526A>G (p.Pro25842=) c.77385A>G (p.Pro25795=) c.103428A>G (p.Pro34476=) c.98826A>G (p.Pro32942=) c.98823A>G (p.Pro32941=) c.95865A>G (p.Pro31955=) c.77481A>G (p.Pro25827=) c.98976A>G (p.Pro32992=) c.98973A>G (p.Pro32991=) c.98406A>G (p.Pro32802=) c.95748A>G (p.Pro31916=) c.95667A>G (p.Pro31889=) c.77430A>G (p.Pro25810=) c.67284A>G (p.Pro22428=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178532080T>G | CA430235837 | TTN,TTN-AS1 | c.96831A>C (p.Pro32277=) c.77916A>C (p.Pro25972=) c.77715A>C (p.Pro25905=) c.77340A>C (p.Pro25780=) c.104535A>C (p.Pro34845=) c.99612A>C (p.Pro33204=) n.446+8444T>G n.220-3652T>G c.103632A>C (p.Pro34544=) c.77526A>C (p.Pro25842=) c.77385A>C (p.Pro25795=) c.103428A>C (p.Pro34476=) c.98826A>C (p.Pro32942=) c.98823A>C (p.Pro32941=) c.95865A>C (p.Pro31955=) c.77481A>C (p.Pro25827=) c.98976A>C (p.Pro32992=) c.98973A>C (p.Pro32991=) c.98406A>C (p.Pro32802=) c.95748A>C (p.Pro31916=) c.95667A>C (p.Pro31889=) c.77430A>C (p.Pro25810=) c.67284A>C (p.Pro22428=) | |
2 | g.178532080T= | CA1310518067 | TTN,TTN-AS1 | c.96831A= (p.Pro32277=) c.77916A= (p.Pro25972=) c.77715A= (p.Pro25905=) c.77340A= (p.Pro25780=) c.104535A= (p.Pro34845=) c.99612A= (p.Pro33204=) n.446+8444T= n.220-3652T= c.103632A= (p.Pro34544=) c.77526A= (p.Pro25842=) c.77385A= (p.Pro25795=) c.103428A= (p.Pro34476=) c.98826A= (p.Pro32942=) c.98823A= (p.Pro32941=) c.95865A= (p.Pro31955=) c.77481A= (p.Pro25827=) c.98976A= (p.Pro32992=) c.98973A= (p.Pro32991=) c.98406A= (p.Pro32802=) c.95748A= (p.Pro31916=) c.95667A= (p.Pro31889=) c.77430A= (p.Pro25810=) c.67284A= (p.Pro22428=) | |
2 | g.178532081G>A | CA1985408 | TTN,TTN-AS1 | c.96830C>T (p.Pro32277Leu) c.77915C>T (p.Pro25972Leu) c.77714C>T (p.Pro25905Leu) c.77339C>T (p.Pro25780Leu) c.104534C>T (p.Pro34845Leu) c.99611C>T (p.Pro33204Leu) n.446+8445G>A n.220-3651G>A c.103631C>T (p.Pro34544Leu) c.77525C>T (p.Pro25842Leu) c.77384C>T (p.Pro25795Leu) c.103427C>T (p.Pro34476Leu) c.98825C>T (p.Pro32942Leu) c.98822C>T (p.Pro32941Leu) c.95864C>T (p.Pro31955Leu) c.77480C>T (p.Pro25827Leu) c.98975C>T (p.Pro32992Leu) c.98972C>T (p.Pro32991Leu) c.98405C>T (p.Pro32802Leu) c.95747C>T (p.Pro31916Leu) c.95666C>T (p.Pro31889Leu) c.77429C>T (p.Pro25810Leu) c.67283C>T (p.Pro22428Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178532081G>C | CA349411458 | TTN,TTN-AS1 | c.96830C>G (p.Pro32277Arg) c.77915C>G (p.Pro25972Arg) c.77714C>G (p.Pro25905Arg) c.77339C>G (p.Pro25780Arg) c.104534C>G (p.Pro34845Arg) c.99611C>G (p.Pro33204Arg) n.446+8445G>C n.220-3651G>C c.103631C>G (p.Pro34544Arg) c.77525C>G (p.Pro25842Arg) c.77384C>G (p.Pro25795Arg) c.103427C>G (p.Pro34476Arg) c.98825C>G (p.Pro32942Arg) c.98822C>G (p.Pro32941Arg) c.95864C>G (p.Pro31955Arg) c.77480C>G (p.Pro25827Arg) c.98975C>G (p.Pro32992Arg) c.98972C>G (p.Pro32991Arg) c.98405C>G (p.Pro32802Arg) c.95747C>G (p.Pro31916Arg) c.95666C>G (p.Pro31889Arg) c.77429C>G (p.Pro25810Arg) c.67283C>G (p.Pro22428Arg) | |
2 | g.178532081G= | CA1310518068 | TTN,TTN-AS1 | c.96830C= (p.Pro32277=) c.77915C= (p.Pro25972=) c.77714C= (p.Pro25905=) c.77339C= (p.Pro25780=) c.104534C= (p.Pro34845=) c.99611C= (p.Pro33204=) n.446+8445G= n.220-3651G= c.103631C= (p.Pro34544=) c.77525C= (p.Pro25842=) c.77384C= (p.Pro25795=) c.103427C= (p.Pro34476=) c.98825C= (p.Pro32942=) c.98822C= (p.Pro32941=) c.95864C= (p.Pro31955=) c.77480C= (p.Pro25827=) c.98975C= (p.Pro32992=) c.98972C= (p.Pro32991=) c.98405C= (p.Pro32802=) c.95747C= (p.Pro31916=) c.95666C= (p.Pro31889=) c.77429C= (p.Pro25810=) c.67283C= (p.Pro22428=) | |
2 | g.178532081G>T | CA349411459 | TTN,TTN-AS1 | c.96830C>A (p.Pro32277Gln) c.77915C>A (p.Pro25972Gln) c.77714C>A (p.Pro25905Gln) c.77339C>A (p.Pro25780Gln) c.104534C>A (p.Pro34845Gln) c.99611C>A (p.Pro33204Gln) n.446+8445G>T n.220-3651G>T c.103631C>A (p.Pro34544Gln) c.77525C>A (p.Pro25842Gln) c.77384C>A (p.Pro25795Gln) c.103427C>A (p.Pro34476Gln) c.98825C>A (p.Pro32942Gln) c.98822C>A (p.Pro32941Gln) c.95864C>A (p.Pro31955Gln) c.77480C>A (p.Pro25827Gln) c.98975C>A (p.Pro32992Gln) c.98972C>A (p.Pro32991Gln) c.98405C>A (p.Pro32802Gln) c.95747C>A (p.Pro31916Gln) c.95666C>A (p.Pro31889Gln) c.77429C>A (p.Pro25810Gln) c.67283C>A (p.Pro22428Gln) | |
2 | g.178532082G>A | CA349411460 | TTN,TTN-AS1 | c.96829C>T (p.Pro32277Ser) c.77914C>T (p.Pro25972Ser) c.77713C>T (p.Pro25905Ser) c.77338C>T (p.Pro25780Ser) c.104533C>T (p.Pro34845Ser) c.99610C>T (p.Pro33204Ser) n.446+8446G>A n.220-3650G>A c.103630C>T (p.Pro34544Ser) c.77524C>T (p.Pro25842Ser) c.77383C>T (p.Pro25795Ser) c.103426C>T (p.Pro34476Ser) c.98824C>T (p.Pro32942Ser) c.98821C>T (p.Pro32941Ser) c.95863C>T (p.Pro31955Ser) c.77479C>T (p.Pro25827Ser) c.98974C>T (p.Pro32992Ser) c.98971C>T (p.Pro32991Ser) c.98404C>T (p.Pro32802Ser) c.95746C>T (p.Pro31916Ser) c.95665C>T (p.Pro31889Ser) c.77428C>T (p.Pro25810Ser) c.67282C>T (p.Pro22428Ser) | |
2 | g.178532082G>C | CA349411462 | TTN,TTN-AS1 | c.96829C>G (p.Pro32277Ala) c.77914C>G (p.Pro25972Ala) c.77713C>G (p.Pro25905Ala) c.77338C>G (p.Pro25780Ala) c.104533C>G (p.Pro34845Ala) c.99610C>G (p.Pro33204Ala) n.446+8446G>C n.220-3650G>C c.103630C>G (p.Pro34544Ala) c.77524C>G (p.Pro25842Ala) c.77383C>G (p.Pro25795Ala) c.103426C>G (p.Pro34476Ala) c.98824C>G (p.Pro32942Ala) c.98821C>G (p.Pro32941Ala) c.95863C>G (p.Pro31955Ala) c.77479C>G (p.Pro25827Ala) c.98974C>G (p.Pro32992Ala) c.98971C>G (p.Pro32991Ala) c.98404C>G (p.Pro32802Ala) c.95746C>G (p.Pro31916Ala) c.95665C>G (p.Pro31889Ala) c.77428C>G (p.Pro25810Ala) c.67282C>G (p.Pro22428Ala) | |
2 | g.178532082G>T | CA349411461 | TTN,TTN-AS1 | c.96829C>A (p.Pro32277Thr) c.77914C>A (p.Pro25972Thr) c.77713C>A (p.Pro25905Thr) c.77338C>A (p.Pro25780Thr) c.104533C>A (p.Pro34845Thr) c.99610C>A (p.Pro33204Thr) n.446+8446G>T n.220-3650G>T c.103630C>A (p.Pro34544Thr) c.77524C>A (p.Pro25842Thr) c.77383C>A (p.Pro25795Thr) c.103426C>A (p.Pro34476Thr) c.98824C>A (p.Pro32942Thr) c.98821C>A (p.Pro32941Thr) c.95863C>A (p.Pro31955Thr) c.77479C>A (p.Pro25827Thr) c.98974C>A (p.Pro32992Thr) c.98971C>A (p.Pro32991Thr) c.98404C>A (p.Pro32802Thr) c.95746C>A (p.Pro31916Thr) c.95665C>A (p.Pro31889Thr) c.77428C>A (p.Pro25810Thr) c.67282C>A (p.Pro22428Thr) | |
2 | g.178532083A>C | CA430235841 | TTN,TTN-AS1 | c.96828T>G (p.Ser32276=) c.77913T>G (p.Ser25971=) c.77712T>G (p.Ser25904=) c.77337T>G (p.Ser25779=) c.104532T>G (p.Ser34844=) c.99609T>G (p.Ser33203=) n.446+8447A>C n.220-3649A>C c.103629T>G (p.Ser34543=) c.77523T>G (p.Ser25841=) c.77382T>G (p.Ser25794=) c.103425T>G (p.Ser34475=) c.98823T>G (p.Ser32941=) c.98820T>G (p.Ser32940=) c.95862T>G (p.Ser31954=) c.77478T>G (p.Ser25826=) c.98973T>G (p.Ser32991=) c.98970T>G (p.Ser32990=) c.98403T>G (p.Ser32801=) c.95745T>G (p.Ser31915=) c.95664T>G (p.Ser31888=) c.77427T>G (p.Ser25809=) c.67281T>G (p.Ser22427=) | |
2 | g.178532083A>G | CA430235842 | TTN,TTN-AS1 | c.96828T>C (p.Ser32276=) c.77913T>C (p.Ser25971=) c.77712T>C (p.Ser25904=) c.77337T>C (p.Ser25779=) c.104532T>C (p.Ser34844=) c.99609T>C (p.Ser33203=) n.446+8447A>G n.220-3649A>G c.103629T>C (p.Ser34543=) c.77523T>C (p.Ser25841=) c.77382T>C (p.Ser25794=) c.103425T>C (p.Ser34475=) c.98823T>C (p.Ser32941=) c.98820T>C (p.Ser32940=) c.95862T>C (p.Ser31954=) c.77478T>C (p.Ser25826=) c.98973T>C (p.Ser32991=) c.98970T>C (p.Ser32990=) c.98403T>C (p.Ser32801=) c.95745T>C (p.Ser31915=) c.95664T>C (p.Ser31888=) c.77427T>C (p.Ser25809=) c.67281T>C (p.Ser22427=) | |
2 | g.178532083A>T | CA430235843 | TTN,TTN-AS1 | c.96828T>A (p.Ser32276=) c.77913T>A (p.Ser25971=) c.77712T>A (p.Ser25904=) c.77337T>A (p.Ser25779=) c.104532T>A (p.Ser34844=) c.99609T>A (p.Ser33203=) n.446+8447A>T n.220-3649A>T c.103629T>A (p.Ser34543=) c.77523T>A (p.Ser25841=) c.77382T>A (p.Ser25794=) c.103425T>A (p.Ser34475=) c.98823T>A (p.Ser32941=) c.98820T>A (p.Ser32940=) c.95862T>A (p.Ser31954=) c.77478T>A (p.Ser25826=) c.98973T>A (p.Ser32991=) c.98970T>A (p.Ser32990=) c.98403T>A (p.Ser32801=) c.95745T>A (p.Ser31915=) c.95664T>A (p.Ser31888=) c.77427T>A (p.Ser25809=) c.67281T>A (p.Ser22427=) | |
2 | g.178532084G>A | CA1985409 | TTN,TTN-AS1 | c.96827C>T (p.Ser32276Phe) c.77912C>T (p.Ser25971Phe) c.77711C>T (p.Ser25904Phe) c.77336C>T (p.Ser25779Phe) c.104531C>T (p.Ser34844Phe) c.99608C>T (p.Ser33203Phe) n.446+8448G>A n.220-3648G>A c.103628C>T (p.Ser34543Phe) c.77522C>T (p.Ser25841Phe) c.77381C>T (p.Ser25794Phe) c.103424C>T (p.Ser34475Phe) c.98822C>T (p.Ser32941Phe) c.98819C>T (p.Ser32940Phe) c.95861C>T (p.Ser31954Phe) c.77477C>T (p.Ser25826Phe) c.98972C>T (p.Ser32991Phe) c.98969C>T (p.Ser32990Phe) c.98402C>T (p.Ser32801Phe) c.95744C>T (p.Ser31915Phe) c.95663C>T (p.Ser31888Phe) c.77426C>T (p.Ser25809Phe) c.67280C>T (p.Ser22427Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178532084G>C | CA349411464 | TTN,TTN-AS1 | c.96827C>G (p.Ser32276Cys) c.77912C>G (p.Ser25971Cys) c.77711C>G (p.Ser25904Cys) c.77336C>G (p.Ser25779Cys) c.104531C>G (p.Ser34844Cys) c.99608C>G (p.Ser33203Cys) n.446+8448G>C n.220-3648G>C c.103628C>G (p.Ser34543Cys) c.77522C>G (p.Ser25841Cys) c.77381C>G (p.Ser25794Cys) c.103424C>G (p.Ser34475Cys) c.98822C>G (p.Ser32941Cys) c.98819C>G (p.Ser32940Cys) c.95861C>G (p.Ser31954Cys) c.77477C>G (p.Ser25826Cys) c.98972C>G (p.Ser32991Cys) c.98969C>G (p.Ser32990Cys) c.98402C>G (p.Ser32801Cys) c.95744C>G (p.Ser31915Cys) c.95663C>G (p.Ser31888Cys) c.77426C>G (p.Ser25809Cys) c.67280C>G (p.Ser22427Cys) | gnomAD v4 |
2 | g.178532084G= | CA1310518069 | TTN,TTN-AS1 | c.96827C= (p.Ser32276=) c.77912C= (p.Ser25971=) c.77711C= (p.Ser25904=) c.77336C= (p.Ser25779=) c.104531C= (p.Ser34844=) c.99608C= (p.Ser33203=) n.446+8448G= n.220-3648G= c.103628C= (p.Ser34543=) c.77522C= (p.Ser25841=) c.77381C= (p.Ser25794=) c.103424C= (p.Ser34475=) c.98822C= (p.Ser32941=) c.98819C= (p.Ser32940=) c.95861C= (p.Ser31954=) c.77477C= (p.Ser25826=) c.98972C= (p.Ser32991=) c.98969C= (p.Ser32990=) c.98402C= (p.Ser32801=) c.95744C= (p.Ser31915=) c.95663C= (p.Ser31888=) c.77426C= (p.Ser25809=) c.67280C= (p.Ser22427=) | |
2 | g.178532084G>T | CA349411463 | TTN,TTN-AS1 | c.96827C>A (p.Ser32276Tyr) c.77912C>A (p.Ser25971Tyr) c.77711C>A (p.Ser25904Tyr) c.77336C>A (p.Ser25779Tyr) c.104531C>A (p.Ser34844Tyr) c.99608C>A (p.Ser33203Tyr) n.446+8448G>T n.220-3648G>T c.103628C>A (p.Ser34543Tyr) c.77522C>A (p.Ser25841Tyr) c.77381C>A (p.Ser25794Tyr) c.103424C>A (p.Ser34475Tyr) c.98822C>A (p.Ser32941Tyr) c.98819C>A (p.Ser32940Tyr) c.95861C>A (p.Ser31954Tyr) c.77477C>A (p.Ser25826Tyr) c.98972C>A (p.Ser32991Tyr) c.98969C>A (p.Ser32990Tyr) c.98402C>A (p.Ser32801Tyr) c.95744C>A (p.Ser31915Tyr) c.95663C>A (p.Ser31888Tyr) c.77426C>A (p.Ser25809Tyr) c.67280C>A (p.Ser22427Tyr) | |
2 | g.178532085A>C | CA349411465 | TTN,TTN-AS1 | c.96826T>G (p.Ser32276Ala) c.77911T>G (p.Ser25971Ala) c.77710T>G (p.Ser25904Ala) c.77335T>G (p.Ser25779Ala) c.104530T>G (p.Ser34844Ala) c.99607T>G (p.Ser33203Ala) n.446+8449A>C n.220-3647A>C c.103627T>G (p.Ser34543Ala) c.77521T>G (p.Ser25841Ala) c.77380T>G (p.Ser25794Ala) c.103423T>G (p.Ser34475Ala) c.98821T>G (p.Ser32941Ala) c.98818T>G (p.Ser32940Ala) c.95860T>G (p.Ser31954Ala) c.77476T>G (p.Ser25826Ala) c.98971T>G (p.Ser32991Ala) c.98968T>G (p.Ser32990Ala) c.98401T>G (p.Ser32801Ala) c.95743T>G (p.Ser31915Ala) c.95662T>G (p.Ser31888Ala) c.77425T>G (p.Ser25809Ala) c.67279T>G (p.Ser22427Ala) | |
2 | g.178532085A>G | CA349411466 | TTN,TTN-AS1 | c.96826T>C (p.Ser32276Pro) c.77911T>C (p.Ser25971Pro) c.77710T>C (p.Ser25904Pro) c.77335T>C (p.Ser25779Pro) c.104530T>C (p.Ser34844Pro) c.99607T>C (p.Ser33203Pro) n.446+8449A>G n.220-3647A>G c.103627T>C (p.Ser34543Pro) c.77521T>C (p.Ser25841Pro) c.77380T>C (p.Ser25794Pro) c.103423T>C (p.Ser34475Pro) c.98821T>C (p.Ser32941Pro) c.98818T>C (p.Ser32940Pro) c.95860T>C (p.Ser31954Pro) c.77476T>C (p.Ser25826Pro) c.98971T>C (p.Ser32991Pro) c.98968T>C (p.Ser32990Pro) c.98401T>C (p.Ser32801Pro) c.95743T>C (p.Ser31915Pro) c.95662T>C (p.Ser31888Pro) c.77425T>C (p.Ser25809Pro) c.67279T>C (p.Ser22427Pro) | |
2 | g.178532085A>T | CA349411467 | TTN,TTN-AS1 | c.96826T>A (p.Ser32276Thr) c.77911T>A (p.Ser25971Thr) c.77710T>A (p.Ser25904Thr) c.77335T>A (p.Ser25779Thr) c.104530T>A (p.Ser34844Thr) c.99607T>A (p.Ser33203Thr) n.446+8449A>T n.220-3647A>T c.103627T>A (p.Ser34543Thr) c.77521T>A (p.Ser25841Thr) c.77380T>A (p.Ser25794Thr) c.103423T>A (p.Ser34475Thr) c.98821T>A (p.Ser32941Thr) c.98818T>A (p.Ser32940Thr) c.95860T>A (p.Ser31954Thr) c.77476T>A (p.Ser25826Thr) c.98971T>A (p.Ser32991Thr) c.98968T>A (p.Ser32990Thr) c.98401T>A (p.Ser32801Thr) c.95743T>A (p.Ser31915Thr) c.95662T>A (p.Ser31888Thr) c.77425T>A (p.Ser25809Thr) c.67279T>A (p.Ser22427Thr) | |
2 | g.178532086C>A | CA430235848 | TTN,TTN-AS1 | c.96825G>T (p.Leu32275=) c.77910G>T (p.Leu25970=) c.77709G>T (p.Leu25903=) c.77334G>T (p.Leu25778=) c.104529G>T (p.Leu34843=) c.99606G>T (p.Leu33202=) n.446+8450C>A n.220-3646C>A c.103626G>T (p.Leu34542=) c.77520G>T (p.Leu25840=) c.77379G>T (p.Leu25793=) c.103422G>T (p.Leu34474=) c.98820G>T (p.Leu32940=) c.98817G>T (p.Leu32939=) c.95859G>T (p.Leu31953=) c.77475G>T (p.Leu25825=) c.98970G>T (p.Leu32990=) c.98967G>T (p.Leu32989=) c.98400G>T (p.Leu32800=) c.95742G>T (p.Leu31914=) c.95661G>T (p.Leu31887=) c.77424G>T (p.Leu25808=) c.67278G>T (p.Leu22426=) | ClinVar dbSNP |
2 | g.178532086C= | CA1310518070 | TTN,TTN-AS1 | c.96825G= (p.Leu32275=) c.77910G= (p.Leu25970=) c.77709G= (p.Leu25903=) c.77334G= (p.Leu25778=) c.104529G= (p.Leu34843=) c.99606G= (p.Leu33202=) n.446+8450C= n.220-3646C= c.103626G= (p.Leu34542=) c.77520G= (p.Leu25840=) c.77379G= (p.Leu25793=) c.103422G= (p.Leu34474=) c.98820G= (p.Leu32940=) c.98817G= (p.Leu32939=) c.95859G= (p.Leu31953=) c.77475G= (p.Leu25825=) c.98970G= (p.Leu32990=) c.98967G= (p.Leu32989=) c.98400G= (p.Leu32800=) c.95742G= (p.Leu31914=) c.95661G= (p.Leu31887=) c.77424G= (p.Leu25808=) c.67278G= (p.Leu22426=) | |
2 | g.178532086C>G | CA430235846 | TTN,TTN-AS1 | c.96825G>C (p.Leu32275=) c.77910G>C (p.Leu25970=) c.77709G>C (p.Leu25903=) c.77334G>C (p.Leu25778=) c.104529G>C (p.Leu34843=) c.99606G>C (p.Leu33202=) n.446+8450C>G n.220-3646C>G c.103626G>C (p.Leu34542=) c.77520G>C (p.Leu25840=) c.77379G>C (p.Leu25793=) c.103422G>C (p.Leu34474=) c.98820G>C (p.Leu32940=) c.98817G>C (p.Leu32939=) c.95859G>C (p.Leu31953=) c.77475G>C (p.Leu25825=) c.98970G>C (p.Leu32990=) c.98967G>C (p.Leu32989=) c.98400G>C (p.Leu32800=) c.95742G>C (p.Leu31914=) c.95661G>C (p.Leu31887=) c.77424G>C (p.Leu25808=) c.67278G>C (p.Leu22426=) | |
2 | g.178532086C>T | CA430235844 | TTN,TTN-AS1 | c.96825G>A (p.Leu32275=) c.77910G>A (p.Leu25970=) c.77709G>A (p.Leu25903=) c.77334G>A (p.Leu25778=) c.104529G>A (p.Leu34843=) c.99606G>A (p.Leu33202=) n.446+8450C>T n.220-3646C>T c.103626G>A (p.Leu34542=) c.77520G>A (p.Leu25840=) c.77379G>A (p.Leu25793=) c.103422G>A (p.Leu34474=) c.98820G>A (p.Leu32940=) c.98817G>A (p.Leu32939=) c.95859G>A (p.Leu31953=) c.77475G>A (p.Leu25825=) c.98970G>A (p.Leu32990=) c.98967G>A (p.Leu32989=) c.98400G>A (p.Leu32800=) c.95742G>A (p.Leu31914=) c.95661G>A (p.Leu31887=) c.77424G>A (p.Leu25808=) c.67278G>A (p.Leu22426=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.178532087A>C | CA349411468 | TTN,TTN-AS1 | c.96824T>G (p.Leu32275Arg) c.77909T>G (p.Leu25970Arg) c.77708T>G (p.Leu25903Arg) c.77333T>G (p.Leu25778Arg) c.104528T>G (p.Leu34843Arg) c.99605T>G (p.Leu33202Arg) n.446+8451A>C n.220-3645A>C c.103625T>G (p.Leu34542Arg) c.77519T>G (p.Leu25840Arg) c.77378T>G (p.Leu25793Arg) c.103421T>G (p.Leu34474Arg) c.98819T>G (p.Leu32940Arg) c.98816T>G (p.Leu32939Arg) c.95858T>G (p.Leu31953Arg) c.77474T>G (p.Leu25825Arg) c.98969T>G (p.Leu32990Arg) c.98966T>G (p.Leu32989Arg) c.98399T>G (p.Leu32800Arg) c.95741T>G (p.Leu31914Arg) c.95660T>G (p.Leu31887Arg) c.77423T>G (p.Leu25808Arg) c.67277T>G (p.Leu22426Arg) | |
2 | g.178532087A>G | CA349411469 | TTN,TTN-AS1 | c.96824T>C (p.Leu32275Pro) c.77909T>C (p.Leu25970Pro) c.77708T>C (p.Leu25903Pro) c.77333T>C (p.Leu25778Pro) c.104528T>C (p.Leu34843Pro) c.99605T>C (p.Leu33202Pro) n.446+8451A>G n.220-3645A>G c.103625T>C (p.Leu34542Pro) c.77519T>C (p.Leu25840Pro) c.77378T>C (p.Leu25793Pro) c.103421T>C (p.Leu34474Pro) c.98819T>C (p.Leu32940Pro) c.98816T>C (p.Leu32939Pro) c.95858T>C (p.Leu31953Pro) c.77474T>C (p.Leu25825Pro) c.98969T>C (p.Leu32990Pro) c.98966T>C (p.Leu32989Pro) c.98399T>C (p.Leu32800Pro) c.95741T>C (p.Leu31914Pro) c.95660T>C (p.Leu31887Pro) c.77423T>C (p.Leu25808Pro) c.67277T>C (p.Leu22426Pro) | |
2 | g.178532087A>T | CA349411470 | TTN,TTN-AS1 | c.96824T>A (p.Leu32275Gln) c.77909T>A (p.Leu25970Gln) c.77708T>A (p.Leu25903Gln) c.77333T>A (p.Leu25778Gln) c.104528T>A (p.Leu34843Gln) c.99605T>A (p.Leu33202Gln) n.446+8451A>T n.220-3645A>T c.103625T>A (p.Leu34542Gln) c.77519T>A (p.Leu25840Gln) c.77378T>A (p.Leu25793Gln) c.103421T>A (p.Leu34474Gln) c.98819T>A (p.Leu32940Gln) c.98816T>A (p.Leu32939Gln) c.95858T>A (p.Leu31953Gln) c.77474T>A (p.Leu25825Gln) c.98969T>A (p.Leu32990Gln) c.98966T>A (p.Leu32989Gln) c.98399T>A (p.Leu32800Gln) c.95741T>A (p.Leu31914Gln) c.95660T>A (p.Leu31887Gln) c.77423T>A (p.Leu25808Gln) c.67277T>A (p.Leu22426Gln) | |
2 | g.178532087_178532088del | CA2662123639 | TTN,TTN-AS1 | c.96823_96824del (p.Leu32275ValfsTer6) c.77908_77909del (p.Leu25970ValfsTer6) c.77707_77708del (p.Leu25903ValfsTer6) c.77332_77333del (p.Leu25778ValfsTer6) c.104527_104528del (p.Leu34843ValfsTer6) c.99604_99605del (p.Leu33202ValfsTer6) n.446+8451_446+8452del n.220-3645_220-3644del c.103624_103625del (p.Leu34542ValfsTer6) c.77518_77519del (p.Leu25840ValfsTer6) c.77377_77378del (p.Leu25793ValfsTer6) c.103420_103421del (p.Leu34474ValfsTer6) c.98818_98819del (p.Leu32940ValfsTer6) c.98815_98816del (p.Leu32939ValfsTer6) c.95857_95858del (p.Leu31953ValfsTer6) c.77473_77474del (p.Leu25825ValfsTer6) c.98968_98969del (p.Leu32990ValfsTer6) c.98965_98966del (p.Leu32989ValfsTer6) c.98398_98399del (p.Leu32800ValfsTer6) c.95740_95741del (p.Leu31914ValfsTer6) c.95659_95660del (p.Leu31887ValfsTer6) c.77422_77423del (p.Leu25808ValfsTer6) c.67276_67277del (p.Leu22426ValfsTer6) | gnomAD v4 |
2 | g.178532088G>A | CA60956148 | TTN,TTN-AS1 | c.96823C>T (p.Leu32275=) c.77908C>T (p.Leu25970=) c.77707C>T (p.Leu25903=) c.77332C>T (p.Leu25778=) c.104527C>T (p.Leu34843=) c.99604C>T (p.Leu33202=) n.446+8452G>A n.220-3644G>A c.103624C>T (p.Leu34542=) c.77518C>T (p.Leu25840=) c.77377C>T (p.Leu25793=) c.103420C>T (p.Leu34474=) c.98818C>T (p.Leu32940=) c.98815C>T (p.Leu32939=) c.95857C>T (p.Leu31953=) c.77473C>T (p.Leu25825=) c.98968C>T (p.Leu32990=) c.98965C>T (p.Leu32989=) c.98398C>T (p.Leu32800=) c.95740C>T (p.Leu31914=) c.95659C>T (p.Leu31887=) c.77422C>T (p.Leu25808=) c.67276C>T (p.Leu22426=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178532088G>C | CA349411471 | TTN,TTN-AS1 | c.96823C>G (p.Leu32275Val) c.77908C>G (p.Leu25970Val) c.77707C>G (p.Leu25903Val) c.77332C>G (p.Leu25778Val) c.104527C>G (p.Leu34843Val) c.99604C>G (p.Leu33202Val) n.446+8452G>C n.220-3644G>C c.103624C>G (p.Leu34542Val) c.77518C>G (p.Leu25840Val) c.77377C>G (p.Leu25793Val) c.103420C>G (p.Leu34474Val) c.98818C>G (p.Leu32940Val) c.98815C>G (p.Leu32939Val) c.95857C>G (p.Leu31953Val) c.77473C>G (p.Leu25825Val) c.98968C>G (p.Leu32990Val) c.98965C>G (p.Leu32989Val) c.98398C>G (p.Leu32800Val) c.95740C>G (p.Leu31914Val) c.95659C>G (p.Leu31887Val) c.77422C>G (p.Leu25808Val) c.67276C>G (p.Leu22426Val) | |
2 | g.178532088G= | CA1310518071 | TTN,TTN-AS1 | c.96823C= (p.Leu32275=) c.77908C= (p.Leu25970=) c.77707C= (p.Leu25903=) c.77332C= (p.Leu25778=) c.104527C= (p.Leu34843=) c.99604C= (p.Leu33202=) n.446+8452G= n.220-3644G= c.103624C= (p.Leu34542=) c.77518C= (p.Leu25840=) c.77377C= (p.Leu25793=) c.103420C= (p.Leu34474=) c.98818C= (p.Leu32940=) c.98815C= (p.Leu32939=) c.95857C= (p.Leu31953=) c.77473C= (p.Leu25825=) c.98968C= (p.Leu32990=) c.98965C= (p.Leu32989=) c.98398C= (p.Leu32800=) c.95740C= (p.Leu31914=) c.95659C= (p.Leu31887=) c.77422C= (p.Leu25808=) c.67276C= (p.Leu22426=) | |
2 | g.178532088G>T | CA349411472 | TTN,TTN-AS1 | c.96823C>A (p.Leu32275Met) c.77908C>A (p.Leu25970Met) c.77707C>A (p.Leu25903Met) c.77332C>A (p.Leu25778Met) c.104527C>A (p.Leu34843Met) c.99604C>A (p.Leu33202Met) n.446+8452G>T n.220-3644G>T c.103624C>A (p.Leu34542Met) c.77518C>A (p.Leu25840Met) c.77377C>A (p.Leu25793Met) c.103420C>A (p.Leu34474Met) c.98818C>A (p.Leu32940Met) c.98815C>A (p.Leu32939Met) c.95857C>A (p.Leu31953Met) c.77473C>A (p.Leu25825Met) c.98968C>A (p.Leu32990Met) c.98965C>A (p.Leu32989Met) c.98398C>A (p.Leu32800Met) c.95740C>A (p.Leu31914Met) c.95659C>A (p.Leu31887Met) c.77422C>A (p.Leu25808Met) c.67276C>A (p.Leu22426Met) | |
2 | g.178532089G>A | CA430235850 | TTN,TTN-AS1 | c.96822C>T (p.Ser32274=) c.77907C>T (p.Ser25969=) c.77706C>T (p.Ser25902=) c.77331C>T (p.Ser25777=) c.104526C>T (p.Ser34842=) c.99603C>T (p.Ser33201=) n.446+8453G>A n.220-3643G>A c.103623C>T (p.Ser34541=) c.77517C>T (p.Ser25839=) c.77376C>T (p.Ser25792=) c.103419C>T (p.Ser34473=) c.98817C>T (p.Ser32939=) c.98814C>T (p.Ser32938=) c.95856C>T (p.Ser31952=) c.77472C>T (p.Ser25824=) c.98967C>T (p.Ser32989=) c.98964C>T (p.Ser32988=) c.98397C>T (p.Ser32799=) c.95739C>T (p.Ser31913=) c.95658C>T (p.Ser31886=) c.77421C>T (p.Ser25807=) c.67275C>T (p.Ser22425=) | |
2 | g.178532089G>C | CA430235851 | TTN,TTN-AS1 | c.96822C>G (p.Ser32274=) c.77907C>G (p.Ser25969=) c.77706C>G (p.Ser25902=) c.77331C>G (p.Ser25777=) c.104526C>G (p.Ser34842=) c.99603C>G (p.Ser33201=) n.446+8453G>C n.220-3643G>C c.103623C>G (p.Ser34541=) c.77517C>G (p.Ser25839=) c.77376C>G (p.Ser25792=) c.103419C>G (p.Ser34473=) c.98817C>G (p.Ser32939=) c.98814C>G (p.Ser32938=) c.95856C>G (p.Ser31952=) c.77472C>G (p.Ser25824=) c.98967C>G (p.Ser32989=) c.98964C>G (p.Ser32988=) c.98397C>G (p.Ser32799=) c.95739C>G (p.Ser31913=) c.95658C>G (p.Ser31886=) c.77421C>G (p.Ser25807=) c.67275C>G (p.Ser22425=) | |
2 | g.178532089G>T | CA430235852 | TTN,TTN-AS1 | c.96822C>A (p.Ser32274=) c.77907C>A (p.Ser25969=) c.77706C>A (p.Ser25902=) c.77331C>A (p.Ser25777=) c.104526C>A (p.Ser34842=) c.99603C>A (p.Ser33201=) n.446+8453G>T n.220-3643G>T c.103623C>A (p.Ser34541=) c.77517C>A (p.Ser25839=) c.77376C>A (p.Ser25792=) c.103419C>A (p.Ser34473=) c.98817C>A (p.Ser32939=) c.98814C>A (p.Ser32938=) c.95856C>A (p.Ser31952=) c.77472C>A (p.Ser25824=) c.98967C>A (p.Ser32989=) c.98964C>A (p.Ser32988=) c.98397C>A (p.Ser32799=) c.95739C>A (p.Ser31913=) c.95658C>A (p.Ser31886=) c.77421C>A (p.Ser25807=) c.67275C>A (p.Ser22425=) | |
2 | g.178532090G>A | CA349411473 | TTN,TTN-AS1 | c.96821C>T (p.Ser32274Phe) c.77906C>T (p.Ser25969Phe) c.77705C>T (p.Ser25902Phe) c.77330C>T (p.Ser25777Phe) c.104525C>T (p.Ser34842Phe) c.99602C>T (p.Ser33201Phe) n.446+8454G>A n.220-3642G>A c.103622C>T (p.Ser34541Phe) c.77516C>T (p.Ser25839Phe) c.77375C>T (p.Ser25792Phe) c.103418C>T (p.Ser34473Phe) c.98816C>T (p.Ser32939Phe) c.98813C>T (p.Ser32938Phe) c.95855C>T (p.Ser31952Phe) c.77471C>T (p.Ser25824Phe) c.98966C>T (p.Ser32989Phe) c.98963C>T (p.Ser32988Phe) c.98396C>T (p.Ser32799Phe) c.95738C>T (p.Ser31913Phe) c.95657C>T (p.Ser31886Phe) c.77420C>T (p.Ser25807Phe) c.67274C>T (p.Ser22425Phe) | |
2 | g.178532090G>C | CA349411474 | TTN,TTN-AS1 | c.96821C>G (p.Ser32274Cys) c.77906C>G (p.Ser25969Cys) c.77705C>G (p.Ser25902Cys) c.77330C>G (p.Ser25777Cys) c.104525C>G (p.Ser34842Cys) c.99602C>G (p.Ser33201Cys) n.446+8454G>C n.220-3642G>C c.103622C>G (p.Ser34541Cys) c.77516C>G (p.Ser25839Cys) c.77375C>G (p.Ser25792Cys) c.103418C>G (p.Ser34473Cys) c.98816C>G (p.Ser32939Cys) c.98813C>G (p.Ser32938Cys) c.95855C>G (p.Ser31952Cys) c.77471C>G (p.Ser25824Cys) c.98966C>G (p.Ser32989Cys) c.98963C>G (p.Ser32988Cys) c.98396C>G (p.Ser32799Cys) c.95738C>G (p.Ser31913Cys) c.95657C>G (p.Ser31886Cys) c.77420C>G (p.Ser25807Cys) c.67274C>G (p.Ser22425Cys) | |
2 | g.178532090G>T | CA349411475 | TTN,TTN-AS1 | c.96821C>A (p.Ser32274Tyr) c.77906C>A (p.Ser25969Tyr) c.77705C>A (p.Ser25902Tyr) c.77330C>A (p.Ser25777Tyr) c.104525C>A (p.Ser34842Tyr) c.99602C>A (p.Ser33201Tyr) n.446+8454G>T n.220-3642G>T c.103622C>A (p.Ser34541Tyr) c.77516C>A (p.Ser25839Tyr) c.77375C>A (p.Ser25792Tyr) c.103418C>A (p.Ser34473Tyr) c.98816C>A (p.Ser32939Tyr) c.98813C>A (p.Ser32938Tyr) c.95855C>A (p.Ser31952Tyr) c.77471C>A (p.Ser25824Tyr) c.98966C>A (p.Ser32989Tyr) c.98963C>A (p.Ser32988Tyr) c.98396C>A (p.Ser32799Tyr) c.95738C>A (p.Ser31913Tyr) c.95657C>A (p.Ser31886Tyr) c.77420C>A (p.Ser25807Tyr) c.67274C>A (p.Ser22425Tyr) | |
2 | g.178532091A>C | CA349411478 | TTN,TTN-AS1 | c.96820T>G (p.Ser32274Ala) c.77905T>G (p.Ser25969Ala) c.77704T>G (p.Ser25902Ala) c.77329T>G (p.Ser25777Ala) c.104524T>G (p.Ser34842Ala) c.99601T>G (p.Ser33201Ala) n.446+8455A>C n.220-3641A>C c.103621T>G (p.Ser34541Ala) c.77515T>G (p.Ser25839Ala) c.77374T>G (p.Ser25792Ala) c.103417T>G (p.Ser34473Ala) c.98815T>G (p.Ser32939Ala) c.98812T>G (p.Ser32938Ala) c.95854T>G (p.Ser31952Ala) c.77470T>G (p.Ser25824Ala) c.98965T>G (p.Ser32989Ala) c.98962T>G (p.Ser32988Ala) c.98395T>G (p.Ser32799Ala) c.95737T>G (p.Ser31913Ala) c.95656T>G (p.Ser31886Ala) c.77419T>G (p.Ser25807Ala) c.67273T>G (p.Ser22425Ala) | |
2 | g.178532091A>G | CA349411476 | TTN,TTN-AS1 | c.96820T>C (p.Ser32274Pro) c.77905T>C (p.Ser25969Pro) c.77704T>C (p.Ser25902Pro) c.77329T>C (p.Ser25777Pro) c.104524T>C (p.Ser34842Pro) c.99601T>C (p.Ser33201Pro) n.446+8455A>G n.220-3641A>G c.103621T>C (p.Ser34541Pro) c.77515T>C (p.Ser25839Pro) c.77374T>C (p.Ser25792Pro) c.103417T>C (p.Ser34473Pro) c.98815T>C (p.Ser32939Pro) c.98812T>C (p.Ser32938Pro) c.95854T>C (p.Ser31952Pro) c.77470T>C (p.Ser25824Pro) c.98965T>C (p.Ser32989Pro) c.98962T>C (p.Ser32988Pro) c.98395T>C (p.Ser32799Pro) c.95737T>C (p.Ser31913Pro) c.95656T>C (p.Ser31886Pro) c.77419T>C (p.Ser25807Pro) c.67273T>C (p.Ser22425Pro) | |
2 | g.178532091A>T | CA349411477 | TTN,TTN-AS1 | c.96820T>A (p.Ser32274Thr) c.77905T>A (p.Ser25969Thr) c.77704T>A (p.Ser25902Thr) c.77329T>A (p.Ser25777Thr) c.104524T>A (p.Ser34842Thr) c.99601T>A (p.Ser33201Thr) n.446+8455A>T n.220-3641A>T c.103621T>A (p.Ser34541Thr) c.77515T>A (p.Ser25839Thr) c.77374T>A (p.Ser25792Thr) c.103417T>A (p.Ser34473Thr) c.98815T>A (p.Ser32939Thr) c.98812T>A (p.Ser32938Thr) c.95854T>A (p.Ser31952Thr) c.77470T>A (p.Ser25824Thr) c.98965T>A (p.Ser32989Thr) c.98962T>A (p.Ser32988Thr) c.98395T>A (p.Ser32799Thr) c.95737T>A (p.Ser31913Thr) c.95656T>A (p.Ser31886Thr) c.77419T>A (p.Ser25807Thr) c.67273T>A (p.Ser22425Thr) | |
2 | g.178532092G>A | CA430235855 | TTN,TTN-AS1 | c.96819C>T (p.Arg32273=) c.77904C>T (p.Arg25968=) c.77703C>T (p.Arg25901=) c.77328C>T (p.Arg25776=) c.104523C>T (p.Arg34841=) c.99600C>T (p.Arg33200=) n.446+8456G>A n.220-3640G>A c.103620C>T (p.Arg34540=) c.77514C>T (p.Arg25838=) c.77373C>T (p.Arg25791=) c.103416C>T (p.Arg34472=) c.98814C>T (p.Arg32938=) c.98811C>T (p.Arg32937=) c.95853C>T (p.Arg31951=) c.77469C>T (p.Arg25823=) c.98964C>T (p.Arg32988=) c.98961C>T (p.Arg32987=) c.98394C>T (p.Arg32798=) c.95736C>T (p.Arg31912=) c.95655C>T (p.Arg31885=) c.77418C>T (p.Arg25806=) c.67272C>T (p.Arg22424=) | ClinVar gnomAD v4 |
2 | g.178532092G>C | CA430235853 | TTN,TTN-AS1 | c.96819C>G (p.Arg32273=) c.77904C>G (p.Arg25968=) c.77703C>G (p.Arg25901=) c.77328C>G (p.Arg25776=) c.104523C>G (p.Arg34841=) c.99600C>G (p.Arg33200=) n.446+8456G>C n.220-3640G>C c.103620C>G (p.Arg34540=) c.77514C>G (p.Arg25838=) c.77373C>G (p.Arg25791=) c.103416C>G (p.Arg34472=) c.98814C>G (p.Arg32938=) c.98811C>G (p.Arg32937=) c.95853C>G (p.Arg31951=) c.77469C>G (p.Arg25823=) c.98964C>G (p.Arg32988=) c.98961C>G (p.Arg32987=) c.98394C>G (p.Arg32798=) c.95736C>G (p.Arg31912=) c.95655C>G (p.Arg31885=) c.77418C>G (p.Arg25806=) c.67272C>G (p.Arg22424=) | gnomAD v4 |
2 | g.178532092G= | CA1310518072 | TTN,TTN-AS1 | c.96819C= (p.Arg32273=) c.77904C= (p.Arg25968=) c.77703C= (p.Arg25901=) c.77328C= (p.Arg25776=) c.104523C= (p.Arg34841=) c.99600C= (p.Arg33200=) n.446+8456G= n.220-3640G= c.103620C= (p.Arg34540=) c.77514C= (p.Arg25838=) c.77373C= (p.Arg25791=) c.103416C= (p.Arg34472=) c.98814C= (p.Arg32938=) c.98811C= (p.Arg32937=) c.95853C= (p.Arg31951=) c.77469C= (p.Arg25823=) c.98964C= (p.Arg32988=) c.98961C= (p.Arg32987=) c.98394C= (p.Arg32798=) c.95736C= (p.Arg31912=) c.95655C= (p.Arg31885=) c.77418C= (p.Arg25806=) c.67272C= (p.Arg22424=) | |
2 | g.178532092G>T | CA430235854 | TTN,TTN-AS1 | c.96819C>A (p.Arg32273=) c.77904C>A (p.Arg25968=) c.77703C>A (p.Arg25901=) c.77328C>A (p.Arg25776=) c.104523C>A (p.Arg34841=) c.99600C>A (p.Arg33200=) n.446+8456G>T n.220-3640G>T c.103620C>A (p.Arg34540=) c.77514C>A (p.Arg25838=) c.77373C>A (p.Arg25791=) c.103416C>A (p.Arg34472=) c.98814C>A (p.Arg32938=) c.98811C>A (p.Arg32937=) c.95853C>A (p.Arg31951=) c.77469C>A (p.Arg25823=) c.98964C>A (p.Arg32988=) c.98961C>A (p.Arg32987=) c.98394C>A (p.Arg32798=) c.95736C>A (p.Arg31912=) c.95655C>A (p.Arg31885=) c.77418C>A (p.Arg25806=) c.67272C>A (p.Arg22424=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.178532093C>A | CA349411479 | TTN,TTN-AS1 | c.96818G>T (p.Arg32273Leu) c.77903G>T (p.Arg25968Leu) c.77702G>T (p.Arg25901Leu) c.77327G>T (p.Arg25776Leu) c.104522G>T (p.Arg34841Leu) c.99599G>T (p.Arg33200Leu) n.446+8457C>A n.220-3639C>A c.103619G>T (p.Arg34540Leu) c.77513G>T (p.Arg25838Leu) c.77372G>T (p.Arg25791Leu) c.103415G>T (p.Arg34472Leu) c.98813G>T (p.Arg32938Leu) c.98810G>T (p.Arg32937Leu) c.95852G>T (p.Arg31951Leu) c.77468G>T (p.Arg25823Leu) c.98963G>T (p.Arg32988Leu) c.98960G>T (p.Arg32987Leu) c.98393G>T (p.Arg32798Leu) c.95735G>T (p.Arg31912Leu) c.95654G>T (p.Arg31885Leu) c.77417G>T (p.Arg25806Leu) c.67271G>T (p.Arg22424Leu) | |
2 | g.178532093C= | CA1310518073 | TTN,TTN-AS1 | c.96818G= (p.Arg32273=) c.77903G= (p.Arg25968=) c.77702G= (p.Arg25901=) c.77327G= (p.Arg25776=) c.104522G= (p.Arg34841=) c.99599G= (p.Arg33200=) n.446+8457C= n.220-3639C= c.103619G= (p.Arg34540=) c.77513G= (p.Arg25838=) c.77372G= (p.Arg25791=) c.103415G= (p.Arg34472=) c.98813G= (p.Arg32938=) c.98810G= (p.Arg32937=) c.95852G= (p.Arg31951=) c.77468G= (p.Arg25823=) c.98963G= (p.Arg32988=) c.98960G= (p.Arg32987=) c.98393G= (p.Arg32798=) c.95735G= (p.Arg31912=) c.95654G= (p.Arg31885=) c.77417G= (p.Arg25806=) c.67271G= (p.Arg22424=) | |
2 | g.178532093C>G | CA349411480 | TTN,TTN-AS1 | c.96818G>C (p.Arg32273Pro) c.77903G>C (p.Arg25968Pro) c.77702G>C (p.Arg25901Pro) c.77327G>C (p.Arg25776Pro) c.104522G>C (p.Arg34841Pro) c.99599G>C (p.Arg33200Pro) n.446+8457C>G n.220-3639C>G c.103619G>C (p.Arg34540Pro) c.77513G>C (p.Arg25838Pro) c.77372G>C (p.Arg25791Pro) c.103415G>C (p.Arg34472Pro) c.98813G>C (p.Arg32938Pro) c.98810G>C (p.Arg32937Pro) c.95852G>C (p.Arg31951Pro) c.77468G>C (p.Arg25823Pro) c.98963G>C (p.Arg32988Pro) c.98960G>C (p.Arg32987Pro) c.98393G>C (p.Arg32798Pro) c.95735G>C (p.Arg31912Pro) c.95654G>C (p.Arg31885Pro) c.77417G>C (p.Arg25806Pro) c.67271G>C (p.Arg22424Pro) | |
2 | g.178532093C>T | CA357992 | TTN,TTN-AS1 | c.96818G>A (p.Arg32273His) c.77903G>A (p.Arg25968His) c.77702G>A (p.Arg25901His) c.77327G>A (p.Arg25776His) c.104522G>A (p.Arg34841His) c.99599G>A (p.Arg33200His) n.446+8457C>T n.220-3639C>T c.103619G>A (p.Arg34540His) c.77513G>A (p.Arg25838His) c.77372G>A (p.Arg25791His) c.103415G>A (p.Arg34472His) c.98813G>A (p.Arg32938His) c.98810G>A (p.Arg32937His) c.95852G>A (p.Arg31951His) c.77468G>A (p.Arg25823His) c.98963G>A (p.Arg32988His) c.98960G>A (p.Arg32987His) c.98393G>A (p.Arg32798His) c.95735G>A (p.Arg31912His) c.95654G>A (p.Arg31885His) c.77417G>A (p.Arg25806His) c.67271G>A (p.Arg22424His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
2 | g.178532094G>A | CA311187 | TTN,TTN-AS1 | c.96817C>T (p.Arg32273Cys) c.77902C>T (p.Arg25968Cys) c.77701C>T (p.Arg25901Cys) c.77326C>T (p.Arg25776Cys) c.104521C>T (p.Arg34841Cys) c.99598C>T (p.Arg33200Cys) n.446+8458G>A n.220-3638G>A c.103618C>T (p.Arg34540Cys) c.77512C>T (p.Arg25838Cys) c.77371C>T (p.Arg25791Cys) c.103414C>T (p.Arg34472Cys) c.98812C>T (p.Arg32938Cys) c.98809C>T (p.Arg32937Cys) c.95851C>T (p.Arg31951Cys) c.77467C>T (p.Arg25823Cys) c.98962C>T (p.Arg32988Cys) c.98959C>T (p.Arg32987Cys) c.98392C>T (p.Arg32798Cys) c.95734C>T (p.Arg31912Cys) c.95653C>T (p.Arg31885Cys) c.77416C>T (p.Arg25806Cys) c.67270C>T (p.Arg22424Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178532094G>C | CA349411481 | TTN,TTN-AS1 | c.96817C>G (p.Arg32273Gly) c.77902C>G (p.Arg25968Gly) c.77701C>G (p.Arg25901Gly) c.77326C>G (p.Arg25776Gly) c.104521C>G (p.Arg34841Gly) c.99598C>G (p.Arg33200Gly) n.446+8458G>C n.220-3638G>C c.103618C>G (p.Arg34540Gly) c.77512C>G (p.Arg25838Gly) c.77371C>G (p.Arg25791Gly) c.103414C>G (p.Arg34472Gly) c.98812C>G (p.Arg32938Gly) c.98809C>G (p.Arg32937Gly) c.95851C>G (p.Arg31951Gly) c.77467C>G (p.Arg25823Gly) c.98962C>G (p.Arg32988Gly) c.98959C>G (p.Arg32987Gly) c.98392C>G (p.Arg32798Gly) c.95734C>G (p.Arg31912Gly) c.95653C>G (p.Arg31885Gly) c.77416C>G (p.Arg25806Gly) c.67270C>G (p.Arg22424Gly) | |
2 | g.178532094G= | CA1310518074 | TTN,TTN-AS1 | c.96817C= (p.Arg32273=) c.77902C= (p.Arg25968=) c.77701C= (p.Arg25901=) c.77326C= (p.Arg25776=) c.104521C= (p.Arg34841=) c.99598C= (p.Arg33200=) n.446+8458G= n.220-3638G= c.103618C= (p.Arg34540=) c.77512C= (p.Arg25838=) c.77371C= (p.Arg25791=) c.103414C= (p.Arg34472=) c.98812C= (p.Arg32938=) c.98809C= (p.Arg32937=) c.95851C= (p.Arg31951=) c.77467C= (p.Arg25823=) c.98962C= (p.Arg32988=) c.98959C= (p.Arg32987=) c.98392C= (p.Arg32798=) c.95734C= (p.Arg31912=) c.95653C= (p.Arg31885=) c.77416C= (p.Arg25806=) c.67270C= (p.Arg22424=) | |
2 | g.178532094G>T | CA349411482 | TTN,TTN-AS1 | c.96817C>A (p.Arg32273Ser) c.77902C>A (p.Arg25968Ser) c.77701C>A (p.Arg25901Ser) c.77326C>A (p.Arg25776Ser) c.104521C>A (p.Arg34841Ser) c.99598C>A (p.Arg33200Ser) n.446+8458G>T n.220-3638G>T c.103618C>A (p.Arg34540Ser) c.77512C>A (p.Arg25838Ser) c.77371C>A (p.Arg25791Ser) c.103414C>A (p.Arg34472Ser) c.98812C>A (p.Arg32938Ser) c.98809C>A (p.Arg32937Ser) c.95851C>A (p.Arg31951Ser) c.77467C>A (p.Arg25823Ser) c.98962C>A (p.Arg32988Ser) c.98959C>A (p.Arg32987Ser) c.98392C>A (p.Arg32798Ser) c.95734C>A (p.Arg31912Ser) c.95653C>A (p.Arg31885Ser) c.77416C>A (p.Arg25806Ser) c.67270C>A (p.Arg22424Ser) | |
2 | g.178532095C>A | CA430235856 | TTN,TTN-AS1 | c.96816G>T (p.Arg32272=) c.77901G>T (p.Arg25967=) c.77700G>T (p.Arg25900=) c.77325G>T (p.Arg25775=) c.104520G>T (p.Arg34840=) c.99597G>T (p.Arg33199=) n.446+8459C>A n.220-3637C>A c.103617G>T (p.Arg34539=) c.77511G>T (p.Arg25837=) c.77370G>T (p.Arg25790=) c.103413G>T (p.Arg34471=) c.98811G>T (p.Arg32937=) c.98808G>T (p.Arg32936=) c.95850G>T (p.Arg31950=) c.77466G>T (p.Arg25822=) c.98961G>T (p.Arg32987=) c.98958G>T (p.Arg32986=) c.98391G>T (p.Arg32797=) c.95733G>T (p.Arg31911=) c.95652G>T (p.Arg31884=) c.77415G>T (p.Arg25805=) c.67269G>T (p.Arg22423=) | |
2 | g.178532095C= | CA1310518075 | TTN,TTN-AS1 | c.96816G= (p.Arg32272=) c.77901G= (p.Arg25967=) c.77700G= (p.Arg25900=) c.77325G= (p.Arg25775=) c.104520G= (p.Arg34840=) c.99597G= (p.Arg33199=) n.446+8459C= n.220-3637C= c.103617G= (p.Arg34539=) c.77511G= (p.Arg25837=) c.77370G= (p.Arg25790=) c.103413G= (p.Arg34471=) c.98811G= (p.Arg32937=) c.98808G= (p.Arg32936=) c.95850G= (p.Arg31950=) c.77466G= (p.Arg25822=) c.98961G= (p.Arg32987=) c.98958G= (p.Arg32986=) c.98391G= (p.Arg32797=) c.95733G= (p.Arg31911=) c.95652G= (p.Arg31884=) c.77415G= (p.Arg25805=) c.67269G= (p.Arg22423=) | |
2 | g.178532095C>G | CA1985410 | TTN,TTN-AS1 | c.96816G>C (p.Arg32272=) c.77901G>C (p.Arg25967=) c.77700G>C (p.Arg25900=) c.77325G>C (p.Arg25775=) c.104520G>C (p.Arg34840=) c.99597G>C (p.Arg33199=) n.446+8459C>G n.220-3637C>G c.103617G>C (p.Arg34539=) c.77511G>C (p.Arg25837=) c.77370G>C (p.Arg25790=) c.103413G>C (p.Arg34471=) c.98811G>C (p.Arg32937=) c.98808G>C (p.Arg32936=) c.95850G>C (p.Arg31950=) c.77466G>C (p.Arg25822=) c.98961G>C (p.Arg32987=) c.98958G>C (p.Arg32986=) c.98391G>C (p.Arg32797=) c.95733G>C (p.Arg31911=) c.95652G>C (p.Arg31884=) c.77415G>C (p.Arg25805=) c.67269G>C (p.Arg22423=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178532095C>T | CA1985411 | TTN,TTN-AS1 | c.96816G>A (p.Arg32272=) c.77901G>A (p.Arg25967=) c.77700G>A (p.Arg25900=) c.77325G>A (p.Arg25775=) c.104520G>A (p.Arg34840=) c.99597G>A (p.Arg33199=) n.446+8459C>T n.220-3637C>T c.103617G>A (p.Arg34539=) c.77511G>A (p.Arg25837=) c.77370G>A (p.Arg25790=) c.103413G>A (p.Arg34471=) c.98811G>A (p.Arg32937=) c.98808G>A (p.Arg32936=) c.95850G>A (p.Arg31950=) c.77466G>A (p.Arg25822=) c.98961G>A (p.Arg32987=) c.98958G>A (p.Arg32986=) c.98391G>A (p.Arg32797=) c.95733G>A (p.Arg31911=) c.95652G>A (p.Arg31884=) c.77415G>A (p.Arg25805=) c.67269G>A (p.Arg22423=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.178532096C>A | CA349411483 | TTN,TTN-AS1 | c.96815G>T (p.Arg32272Leu) c.77900G>T (p.Arg25967Leu) c.77699G>T (p.Arg25900Leu) c.77324G>T (p.Arg25775Leu) c.104519G>T (p.Arg34840Leu) c.99596G>T (p.Arg33199Leu) n.446+8460C>A n.220-3636C>A c.103616G>T (p.Arg34539Leu) c.77510G>T (p.Arg25837Leu) c.77369G>T (p.Arg25790Leu) c.103412G>T (p.Arg34471Leu) c.98810G>T (p.Arg32937Leu) c.98807G>T (p.Arg32936Leu) c.95849G>T (p.Arg31950Leu) c.77465G>T (p.Arg25822Leu) c.98960G>T (p.Arg32987Leu) c.98957G>T (p.Arg32986Leu) c.98390G>T (p.Arg32797Leu) c.95732G>T (p.Arg31911Leu) c.95651G>T (p.Arg31884Leu) c.77414G>T (p.Arg25805Leu) c.67268G>T (p.Arg22423Leu) | |
2 | g.178532096C= | CA1310518076 | TTN,TTN-AS1 | c.96815G= (p.Arg32272=) c.77900G= (p.Arg25967=) c.77699G= (p.Arg25900=) c.77324G= (p.Arg25775=) c.104519G= (p.Arg34840=) c.99596G= (p.Arg33199=) n.446+8460C= n.220-3636C= c.103616G= (p.Arg34539=) c.77510G= (p.Arg25837=) c.77369G= (p.Arg25790=) c.103412G= (p.Arg34471=) c.98810G= (p.Arg32937=) c.98807G= (p.Arg32936=) c.95849G= (p.Arg31950=) c.77465G= (p.Arg25822=) c.98960G= (p.Arg32987=) c.98957G= (p.Arg32986=) c.98390G= (p.Arg32797=) c.95732G= (p.Arg31911=) c.95651G= (p.Arg31884=) c.77414G= (p.Arg25805=) c.67268G= (p.Arg22423=) | |
2 | g.178532096C>G | CA349411484 | TTN,TTN-AS1 | c.96815G>C (p.Arg32272Pro) c.77900G>C (p.Arg25967Pro) c.77699G>C (p.Arg25900Pro) c.77324G>C (p.Arg25775Pro) c.104519G>C (p.Arg34840Pro) c.99596G>C (p.Arg33199Pro) n.446+8460C>G n.220-3636C>G c.103616G>C (p.Arg34539Pro) c.77510G>C (p.Arg25837Pro) c.77369G>C (p.Arg25790Pro) c.103412G>C (p.Arg34471Pro) c.98810G>C (p.Arg32937Pro) c.98807G>C (p.Arg32936Pro) c.95849G>C (p.Arg31950Pro) c.77465G>C (p.Arg25822Pro) c.98960G>C (p.Arg32987Pro) c.98957G>C (p.Arg32986Pro) c.98390G>C (p.Arg32797Pro) c.95732G>C (p.Arg31911Pro) c.95651G>C (p.Arg31884Pro) c.77414G>C (p.Arg25805Pro) c.67268G>C (p.Arg22423Pro) | |
2 | g.178532096C>T | CA311184 | TTN,TTN-AS1 | c.96815G>A (p.Arg32272Gln) c.77900G>A (p.Arg25967Gln) c.77699G>A (p.Arg25900Gln) c.77324G>A (p.Arg25775Gln) c.104519G>A (p.Arg34840Gln) c.99596G>A (p.Arg33199Gln) n.446+8460C>T n.220-3636C>T c.103616G>A (p.Arg34539Gln) c.77510G>A (p.Arg25837Gln) c.77369G>A (p.Arg25790Gln) c.103412G>A (p.Arg34471Gln) c.98810G>A (p.Arg32937Gln) c.98807G>A (p.Arg32936Gln) c.95849G>A (p.Arg31950Gln) c.77465G>A (p.Arg25822Gln) c.98960G>A (p.Arg32987Gln) c.98957G>A (p.Arg32986Gln) c.98390G>A (p.Arg32797Gln) c.95732G>A (p.Arg31911Gln) c.95651G>A (p.Arg31884Gln) c.77414G>A (p.Arg25805Gln) c.67268G>A (p.Arg22423Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178532097G>A | CA1985412 | TTN,TTN-AS1 | c.96814C>T (p.Arg32272Trp) c.77899C>T (p.Arg25967Trp) c.77698C>T (p.Arg25900Trp) c.77323C>T (p.Arg25775Trp) c.104518C>T (p.Arg34840Trp) c.99595C>T (p.Arg33199Trp) n.446+8461G>A n.220-3635G>A c.103615C>T (p.Arg34539Trp) c.77509C>T (p.Arg25837Trp) c.77368C>T (p.Arg25790Trp) c.103411C>T (p.Arg34471Trp) c.98809C>T (p.Arg32937Trp) c.98806C>T (p.Arg32936Trp) c.95848C>T (p.Arg31950Trp) c.77464C>T (p.Arg25822Trp) c.98959C>T (p.Arg32987Trp) c.98956C>T (p.Arg32986Trp) c.98389C>T (p.Arg32797Trp) c.95731C>T (p.Arg31911Trp) c.95650C>T (p.Arg31884Trp) c.77413C>T (p.Arg25805Trp) c.67267C>T (p.Arg22423Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
2 | g.178532097G>C | CA349411485 | TTN,TTN-AS1 | c.96814C>G (p.Arg32272Gly) c.77899C>G (p.Arg25967Gly) c.77698C>G (p.Arg25900Gly) c.77323C>G (p.Arg25775Gly) c.104518C>G (p.Arg34840Gly) c.99595C>G (p.Arg33199Gly) n.446+8461G>C n.220-3635G>C c.103615C>G (p.Arg34539Gly) c.77509C>G (p.Arg25837Gly) c.77368C>G (p.Arg25790Gly) c.103411C>G (p.Arg34471Gly) c.98809C>G (p.Arg32937Gly) c.98806C>G (p.Arg32936Gly) c.95848C>G (p.Arg31950Gly) c.77464C>G (p.Arg25822Gly) c.98959C>G (p.Arg32987Gly) c.98956C>G (p.Arg32986Gly) c.98389C>G (p.Arg32797Gly) c.95731C>G (p.Arg31911Gly) c.95650C>G (p.Arg31884Gly) c.77413C>G (p.Arg25805Gly) c.67267C>G (p.Arg22423Gly) | |
2 | g.178532097G= | CA1310518077 | TTN,TTN-AS1 | c.96814C= (p.Arg32272=) c.77899C= (p.Arg25967=) c.77698C= (p.Arg25900=) c.77323C= (p.Arg25775=) c.104518C= (p.Arg34840=) c.99595C= (p.Arg33199=) n.446+8461G= n.220-3635G= c.103615C= (p.Arg34539=) c.77509C= (p.Arg25837=) c.77368C= (p.Arg25790=) c.103411C= (p.Arg34471=) c.98809C= (p.Arg32937=) c.98806C= (p.Arg32936=) c.95848C= (p.Arg31950=) c.77464C= (p.Arg25822=) c.98959C= (p.Arg32987=) c.98956C= (p.Arg32986=) c.98389C= (p.Arg32797=) c.95731C= (p.Arg31911=) c.95650C= (p.Arg31884=) c.77413C= (p.Arg25805=) c.67267C= (p.Arg22423=) | |
2 | g.178532097G>T | CA430235857 | TTN,TTN-AS1 | c.96814C>A (p.Arg32272=) c.77899C>A (p.Arg25967=) c.77698C>A (p.Arg25900=) c.77323C>A (p.Arg25775=) c.104518C>A (p.Arg34840=) c.99595C>A (p.Arg33199=) n.446+8461G>T n.220-3635G>T c.103615C>A (p.Arg34539=) c.77509C>A (p.Arg25837=) c.77368C>A (p.Arg25790=) c.103411C>A (p.Arg34471=) c.98809C>A (p.Arg32937=) c.98806C>A (p.Arg32936=) c.95848C>A (p.Arg31950=) c.77464C>A (p.Arg25822=) c.98959C>A (p.Arg32987=) c.98956C>A (p.Arg32986=) c.98389C>A (p.Arg32797=) c.95731C>A (p.Arg31911=) c.95650C>A (p.Arg31884=) c.77413C>A (p.Arg25805=) c.67267C>A (p.Arg22423=) | |
2 | g.178532098T>A | CA430235859 | TTN,TTN-AS1 | c.96813A>T (p.Arg32271=) c.77898A>T (p.Arg25966=) c.77697A>T (p.Arg25899=) c.77322A>T (p.Arg25774=) c.104517A>T (p.Arg34839=) c.99594A>T (p.Arg33198=) n.446+8462T>A n.220-3634T>A c.103614A>T (p.Arg34538=) c.77508A>T (p.Arg25836=) c.77367A>T (p.Arg25789=) c.103410A>T (p.Arg34470=) c.98808A>T (p.Arg32936=) c.98805A>T (p.Arg32935=) c.95847A>T (p.Arg31949=) c.77463A>T (p.Arg25821=) c.98958A>T (p.Arg32986=) c.98955A>T (p.Arg32985=) c.98388A>T (p.Arg32796=) c.95730A>T (p.Arg31910=) c.95649A>T (p.Arg31883=) c.77412A>T (p.Arg25804=) c.67266A>T (p.Arg22422=) | |
2 | g.178532098T>C | CA430235858 | TTN,TTN-AS1 | c.96813A>G (p.Arg32271=) c.77898A>G (p.Arg25966=) c.77697A>G (p.Arg25899=) c.77322A>G (p.Arg25774=) c.104517A>G (p.Arg34839=) c.99594A>G (p.Arg33198=) n.446+8462T>C n.220-3634T>C c.103614A>G (p.Arg34538=) c.77508A>G (p.Arg25836=) c.77367A>G (p.Arg25789=) c.103410A>G (p.Arg34470=) c.98808A>G (p.Arg32936=) c.98805A>G (p.Arg32935=) c.95847A>G (p.Arg31949=) c.77463A>G (p.Arg25821=) c.98958A>G (p.Arg32986=) c.98955A>G (p.Arg32985=) c.98388A>G (p.Arg32796=) c.95730A>G (p.Arg31910=) c.95649A>G (p.Arg31883=) c.77412A>G (p.Arg25804=) c.67266A>G (p.Arg22422=) | |
2 | g.178532098T>G | CA430235860 | TTN,TTN-AS1 | c.96813A>C (p.Arg32271=) c.77898A>C (p.Arg25966=) c.77697A>C (p.Arg25899=) c.77322A>C (p.Arg25774=) c.104517A>C (p.Arg34839=) c.99594A>C (p.Arg33198=) n.446+8462T>G n.220-3634T>G c.103614A>C (p.Arg34538=) c.77508A>C (p.Arg25836=) c.77367A>C (p.Arg25789=) c.103410A>C (p.Arg34470=) c.98808A>C (p.Arg32936=) c.98805A>C (p.Arg32935=) c.95847A>C (p.Arg31949=) c.77463A>C (p.Arg25821=) c.98958A>C (p.Arg32986=) c.98955A>C (p.Arg32985=) c.98388A>C (p.Arg32796=) c.95730A>C (p.Arg31910=) c.95649A>C (p.Arg31883=) c.77412A>C (p.Arg25804=) c.67266A>C (p.Arg22422=) | |
2 | g.178532099C>A | CA349411486 | TTN,TTN-AS1 | c.96812G>T (p.Arg32271Leu) c.77897G>T (p.Arg25966Leu) c.77696G>T (p.Arg25899Leu) c.77321G>T (p.Arg25774Leu) c.104516G>T (p.Arg34839Leu) c.99593G>T (p.Arg33198Leu) n.446+8463C>A n.220-3633C>A c.103613G>T (p.Arg34538Leu) c.77507G>T (p.Arg25836Leu) c.77366G>T (p.Arg25789Leu) c.103409G>T (p.Arg34470Leu) c.98807G>T (p.Arg32936Leu) c.98804G>T (p.Arg32935Leu) c.95846G>T (p.Arg31949Leu) c.77462G>T (p.Arg25821Leu) c.98957G>T (p.Arg32986Leu) c.98954G>T (p.Arg32985Leu) c.98387G>T (p.Arg32796Leu) c.95729G>T (p.Arg31910Leu) c.95648G>T (p.Arg31883Leu) c.77411G>T (p.Arg25804Leu) c.67265G>T (p.Arg22422Leu) | |
2 | g.178532099C= | CA1310518078 | TTN,TTN-AS1 | c.96812G= (p.Arg32271=) c.77897G= (p.Arg25966=) c.77696G= (p.Arg25899=) c.77321G= (p.Arg25774=) c.104516G= (p.Arg34839=) c.99593G= (p.Arg33198=) n.446+8463C= n.220-3633C= c.103613G= (p.Arg34538=) c.77507G= (p.Arg25836=) c.77366G= (p.Arg25789=) c.103409G= (p.Arg34470=) c.98807G= (p.Arg32936=) c.98804G= (p.Arg32935=) c.95846G= (p.Arg31949=) c.77462G= (p.Arg25821=) c.98957G= (p.Arg32986=) c.98954G= (p.Arg32985=) c.98387G= (p.Arg32796=) c.95729G= (p.Arg31910=) c.95648G= (p.Arg31883=) c.77411G= (p.Arg25804=) c.67265G= (p.Arg22422=) | |
2 | g.178532099C>G | CA349411487 | TTN,TTN-AS1 | c.96812G>C (p.Arg32271Pro) c.77897G>C (p.Arg25966Pro) c.77696G>C (p.Arg25899Pro) c.77321G>C (p.Arg25774Pro) c.104516G>C (p.Arg34839Pro) c.99593G>C (p.Arg33198Pro) n.446+8463C>G n.220-3633C>G c.103613G>C (p.Arg34538Pro) c.77507G>C (p.Arg25836Pro) c.77366G>C (p.Arg25789Pro) c.103409G>C (p.Arg34470Pro) c.98807G>C (p.Arg32936Pro) c.98804G>C (p.Arg32935Pro) c.95846G>C (p.Arg31949Pro) c.77462G>C (p.Arg25821Pro) c.98957G>C (p.Arg32986Pro) c.98954G>C (p.Arg32985Pro) c.98387G>C (p.Arg32796Pro) c.95729G>C (p.Arg31910Pro) c.95648G>C (p.Arg31883Pro) c.77411G>C (p.Arg25804Pro) c.67265G>C (p.Arg22422Pro) | |
2 | g.178532099C>T | CA1985413 | TTN,TTN-AS1 | c.96812G>A (p.Arg32271Gln) c.77897G>A (p.Arg25966Gln) c.77696G>A (p.Arg25899Gln) c.77321G>A (p.Arg25774Gln) c.104516G>A (p.Arg34839Gln) c.99593G>A (p.Arg33198Gln) n.446+8463C>T n.220-3633C>T c.103613G>A (p.Arg34538Gln) c.77507G>A (p.Arg25836Gln) c.77366G>A (p.Arg25789Gln) c.103409G>A (p.Arg34470Gln) c.98807G>A (p.Arg32936Gln) c.98804G>A (p.Arg32935Gln) c.95846G>A (p.Arg31949Gln) c.77462G>A (p.Arg25821Gln) c.98957G>A (p.Arg32986Gln) c.98954G>A (p.Arg32985Gln) c.98387G>A (p.Arg32796Gln) c.95729G>A (p.Arg31910Gln) c.95648G>A (p.Arg31883Gln) c.77411G>A (p.Arg25804Gln) c.67265G>A (p.Arg22422Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
2 | g.178532100G>A | CA349411489 | TTN,TTN-AS1 | c.96811C>T (p.Arg32271Ter) c.77896C>T (p.Arg25966Ter) c.77695C>T (p.Arg25899Ter) c.77320C>T (p.Arg25774Ter) c.104515C>T (p.Arg34839Ter) c.99592C>T (p.Arg33198Ter) n.446+8464G>A n.220-3632G>A c.103612C>T (p.Arg34538Ter) c.77506C>T (p.Arg25836Ter) c.77365C>T (p.Arg25789Ter) c.103408C>T (p.Arg34470Ter) c.98806C>T (p.Arg32936Ter) c.98803C>T (p.Arg32935Ter) c.95845C>T (p.Arg31949Ter) c.77461C>T (p.Arg25821Ter) c.98956C>T (p.Arg32986Ter) c.98953C>T (p.Arg32985Ter) c.98386C>T (p.Arg32796Ter) c.95728C>T (p.Arg31910Ter) c.95647C>T (p.Arg31883Ter) c.77410C>T (p.Arg25804Ter) c.67264C>T (p.Arg22422Ter) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
2 | g.178532100G>C | CA349411490 | TTN,TTN-AS1 | c.96811C>G (p.Arg32271Gly) c.77896C>G (p.Arg25966Gly) c.77695C>G (p.Arg25899Gly) c.77320C>G (p.Arg25774Gly) c.104515C>G (p.Arg34839Gly) c.99592C>G (p.Arg33198Gly) n.446+8464G>C n.220-3632G>C c.103612C>G (p.Arg34538Gly) c.77506C>G (p.Arg25836Gly) c.77365C>G (p.Arg25789Gly) c.103408C>G (p.Arg34470Gly) c.98806C>G (p.Arg32936Gly) c.98803C>G (p.Arg32935Gly) c.95845C>G (p.Arg31949Gly) c.77461C>G (p.Arg25821Gly) c.98956C>G (p.Arg32986Gly) c.98953C>G (p.Arg32985Gly) c.98386C>G (p.Arg32796Gly) c.95728C>G (p.Arg31910Gly) c.95647C>G (p.Arg31883Gly) c.77410C>G (p.Arg25804Gly) c.67264C>G (p.Arg22422Gly) | |
2 | g.178532100G= | CA1310518079 | TTN,TTN-AS1 | c.96811C= (p.Arg32271=) c.77896C= (p.Arg25966=) c.77695C= (p.Arg25899=) c.77320C= (p.Arg25774=) c.104515C= (p.Arg34839=) c.99592C= (p.Arg33198=) n.446+8464G= n.220-3632G= c.103612C= (p.Arg34538=) c.77506C= (p.Arg25836=) c.77365C= (p.Arg25789=) c.103408C= (p.Arg34470=) c.98806C= (p.Arg32936=) c.98803C= (p.Arg32935=) c.95845C= (p.Arg31949=) c.77461C= (p.Arg25821=) c.98956C= (p.Arg32986=) c.98953C= (p.Arg32985=) c.98386C= (p.Arg32796=) c.95728C= (p.Arg31910=) c.95647C= (p.Arg31883=) c.77410C= (p.Arg25804=) c.67264C= (p.Arg22422=) | |
2 | g.178532100G>T | CA430235861 | TTN,TTN-AS1 | c.96811C>A (p.Arg32271=) c.77896C>A (p.Arg25966=) c.77695C>A (p.Arg25899=) c.77320C>A (p.Arg25774=) c.104515C>A (p.Arg34839=) c.99592C>A (p.Arg33198=) n.446+8464G>T n.220-3632G>T c.103612C>A (p.Arg34538=) c.77506C>A (p.Arg25836=) c.77365C>A (p.Arg25789=) c.103408C>A (p.Arg34470=) c.98806C>A (p.Arg32936=) c.98803C>A (p.Arg32935=) c.95845C>A (p.Arg31949=) c.77461C>A (p.Arg25821=) c.98956C>A (p.Arg32986=) c.98953C>A (p.Arg32985=) c.98386C>A (p.Arg32796=) c.95728C>A (p.Arg31910=) c.95647C>A (p.Arg31883=) c.77410C>A (p.Arg25804=) c.67264C>A (p.Arg22422=) | dbSNP gnomAD v4 |
2 | g.178532101T>A | CA349411491 | TTN,TTN-AS1 | c.96810A>T (p.Arg32270Ser) c.77895A>T (p.Arg25965Ser) c.77694A>T (p.Arg25898Ser) c.77319A>T (p.Arg25773Ser) c.104514A>T (p.Arg34838Ser) c.99591A>T (p.Arg33197Ser) n.446+8465T>A n.220-3631T>A c.103611A>T (p.Arg34537Ser) c.77505A>T (p.Arg25835Ser) c.77364A>T (p.Arg25788Ser) c.103407A>T (p.Arg34469Ser) c.98805A>T (p.Arg32935Ser) c.98802A>T (p.Arg32934Ser) c.95844A>T (p.Arg31948Ser) c.77460A>T (p.Arg25820Ser) c.98955A>T (p.Arg32985Ser) c.98952A>T (p.Arg32984Ser) c.98385A>T (p.Arg32795Ser) c.95727A>T (p.Arg31909Ser) c.95646A>T (p.Arg31882Ser) c.77409A>T (p.Arg25803Ser) c.67263A>T (p.Arg22421Ser) | |
2 | g.178532101T>C | CA430235862 | TTN,TTN-AS1 | c.96810A>G (p.Arg32270=) c.77895A>G (p.Arg25965=) c.77694A>G (p.Arg25898=) c.77319A>G (p.Arg25773=) c.104514A>G (p.Arg34838=) c.99591A>G (p.Arg33197=) n.446+8465T>C n.220-3631T>C c.103611A>G (p.Arg34537=) c.77505A>G (p.Arg25835=) c.77364A>G (p.Arg25788=) c.103407A>G (p.Arg34469=) c.98805A>G (p.Arg32935=) c.98802A>G (p.Arg32934=) c.95844A>G (p.Arg31948=) c.77460A>G (p.Arg25820=) c.98955A>G (p.Arg32985=) c.98952A>G (p.Arg32984=) c.98385A>G (p.Arg32795=) c.95727A>G (p.Arg31909=) c.95646A>G (p.Arg31882=) c.77409A>G (p.Arg25803=) c.67263A>G (p.Arg22421=) | |
2 | g.178532101T>G | CA349411492 | TTN,TTN-AS1 | c.96810A>C (p.Arg32270Ser) c.77895A>C (p.Arg25965Ser) c.77694A>C (p.Arg25898Ser) c.77319A>C (p.Arg25773Ser) c.104514A>C (p.Arg34838Ser) c.99591A>C (p.Arg33197Ser) n.446+8465T>G n.220-3631T>G c.103611A>C (p.Arg34537Ser) c.77505A>C (p.Arg25835Ser) c.77364A>C (p.Arg25788Ser) c.103407A>C (p.Arg34469Ser) c.98805A>C (p.Arg32935Ser) c.98802A>C (p.Arg32934Ser) c.95844A>C (p.Arg31948Ser) c.77460A>C (p.Arg25820Ser) c.98955A>C (p.Arg32985Ser) c.98952A>C (p.Arg32984Ser) c.98385A>C (p.Arg32795Ser) c.95727A>C (p.Arg31909Ser) c.95646A>C (p.Arg31882Ser) c.77409A>C (p.Arg25803Ser) c.67263A>C (p.Arg22421Ser) | |
2 | g.178532102C>A | CA349411494 | TTN,TTN-AS1 | c.96809G>T (p.Arg32270Ile) c.77894G>T (p.Arg25965Ile) c.77693G>T (p.Arg25898Ile) c.77318G>T (p.Arg25773Ile) c.104513G>T (p.Arg34838Ile) c.99590G>T (p.Arg33197Ile) n.446+8466C>A n.220-3630C>A c.103610G>T (p.Arg34537Ile) c.77504G>T (p.Arg25835Ile) c.77363G>T (p.Arg25788Ile) c.103406G>T (p.Arg34469Ile) c.98804G>T (p.Arg32935Ile) c.98801G>T (p.Arg32934Ile) c.95843G>T (p.Arg31948Ile) c.77459G>T (p.Arg25820Ile) c.98954G>T (p.Arg32985Ile) c.98951G>T (p.Arg32984Ile) c.98384G>T (p.Arg32795Ile) c.95726G>T (p.Arg31909Ile) c.95645G>T (p.Arg31882Ile) c.77408G>T (p.Arg25803Ile) c.67262G>T (p.Arg22421Ile) | |
2 | g.178532102C>G | CA349411496 | TTN,TTN-AS1 | c.96809G>C (p.Arg32270Thr) c.77894G>C (p.Arg25965Thr) c.77693G>C (p.Arg25898Thr) c.77318G>C (p.Arg25773Thr) c.104513G>C (p.Arg34838Thr) c.99590G>C (p.Arg33197Thr) n.446+8466C>G n.220-3630C>G c.103610G>C (p.Arg34537Thr) c.77504G>C (p.Arg25835Thr) c.77363G>C (p.Arg25788Thr) c.103406G>C (p.Arg34469Thr) c.98804G>C (p.Arg32935Thr) c.98801G>C (p.Arg32934Thr) c.95843G>C (p.Arg31948Thr) c.77459G>C (p.Arg25820Thr) c.98954G>C (p.Arg32985Thr) c.98951G>C (p.Arg32984Thr) c.98384G>C (p.Arg32795Thr) c.95726G>C (p.Arg31909Thr) c.95645G>C (p.Arg31882Thr) c.77408G>C (p.Arg25803Thr) c.67262G>C (p.Arg22421Thr) | |
2 | g.178532102C>T | CA349411497 | TTN,TTN-AS1 | c.96809G>A (p.Arg32270Lys) c.77894G>A (p.Arg25965Lys) c.77693G>A (p.Arg25898Lys) c.77318G>A (p.Arg25773Lys) c.104513G>A (p.Arg34838Lys) c.99590G>A (p.Arg33197Lys) n.446+8466C>T n.220-3630C>T c.103610G>A (p.Arg34537Lys) c.77504G>A (p.Arg25835Lys) c.77363G>A (p.Arg25788Lys) c.103406G>A (p.Arg34469Lys) c.98804G>A (p.Arg32935Lys) c.98801G>A (p.Arg32934Lys) c.95843G>A (p.Arg31948Lys) c.77459G>A (p.Arg25820Lys) c.98954G>A (p.Arg32985Lys) c.98951G>A (p.Arg32984Lys) c.98384G>A (p.Arg32795Lys) c.95726G>A (p.Arg31909Lys) c.95645G>A (p.Arg31882Lys) c.77408G>A (p.Arg25803Lys) c.67262G>A (p.Arg22421Lys) | ClinVar |
2 | g.178532103T>A | CA349411499 | TTN,TTN-AS1 | c.96808A>T (p.Arg32270Ter) c.77893A>T (p.Arg25965Ter) c.77692A>T (p.Arg25898Ter) c.77317A>T (p.Arg25773Ter) c.104512A>T (p.Arg34838Ter) c.99589A>T (p.Arg33197Ter) n.446+8467T>A n.220-3629T>A c.103609A>T (p.Arg34537Ter) c.77503A>T (p.Arg25835Ter) c.77362A>T (p.Arg25788Ter) c.103405A>T (p.Arg34469Ter) c.98803A>T (p.Arg32935Ter) c.98800A>T (p.Arg32934Ter) c.95842A>T (p.Arg31948Ter) c.77458A>T (p.Arg25820Ter) c.98953A>T (p.Arg32985Ter) c.98950A>T (p.Arg32984Ter) c.98383A>T (p.Arg32795Ter) c.95725A>T (p.Arg31909Ter) c.95644A>T (p.Arg31882Ter) c.77407A>T (p.Arg25803Ter) c.67261A>T (p.Arg22421Ter) | |
2 | g.178532103T>C | CA349411500 | TTN,TTN-AS1 | c.96808A>G (p.Arg32270Gly) c.77893A>G (p.Arg25965Gly) c.77692A>G (p.Arg25898Gly) c.77317A>G (p.Arg25773Gly) c.104512A>G (p.Arg34838Gly) c.99589A>G (p.Arg33197Gly) n.446+8467T>C n.220-3629T>C c.103609A>G (p.Arg34537Gly) c.77503A>G (p.Arg25835Gly) c.77362A>G (p.Arg25788Gly) c.103405A>G (p.Arg34469Gly) c.98803A>G (p.Arg32935Gly) c.98800A>G (p.Arg32934Gly) c.95842A>G (p.Arg31948Gly) c.77458A>G (p.Arg25820Gly) c.98953A>G (p.Arg32985Gly) c.98950A>G (p.Arg32984Gly) c.98383A>G (p.Arg32795Gly) c.95725A>G (p.Arg31909Gly) c.95644A>G (p.Arg31882Gly) c.77407A>G (p.Arg25803Gly) c.67261A>G (p.Arg22421Gly) | |
2 | g.178532103T>G | CA430235863 | TTN,TTN-AS1 | c.96808A>C (p.Arg32270=) c.77893A>C (p.Arg25965=) c.77692A>C (p.Arg25898=) c.77317A>C (p.Arg25773=) c.104512A>C (p.Arg34838=) c.99589A>C (p.Arg33197=) n.446+8467T>G n.220-3629T>G c.103609A>C (p.Arg34537=) c.77503A>C (p.Arg25835=) c.77362A>C (p.Arg25788=) c.103405A>C (p.Arg34469=) c.98803A>C (p.Arg32935=) c.98800A>C (p.Arg32934=) c.95842A>C (p.Arg31948=) c.77458A>C (p.Arg25820=) c.98953A>C (p.Arg32985=) c.98950A>C (p.Arg32984=) c.98383A>C (p.Arg32795=) c.95725A>C (p.Arg31909=) c.95644A>C (p.Arg31882=) c.77407A>C (p.Arg25803=) c.67261A>C (p.Arg22421=) | ClinVar gnomAD v4 |
2 | g.178532104C>A | CA430235864 | TTN,TTN-AS1 | c.96807G>T (p.Leu32269=) c.77892G>T (p.Leu25964=) c.77691G>T (p.Leu25897=) c.77316G>T (p.Leu25772=) c.104511G>T (p.Leu34837=) c.99588G>T (p.Leu33196=) n.446+8468C>A n.220-3628C>A c.103608G>T (p.Leu34536=) c.77502G>T (p.Leu25834=) c.77361G>T (p.Leu25787=) c.103404G>T (p.Leu34468=) c.98802G>T (p.Leu32934=) c.98799G>T (p.Leu32933=) c.95841G>T (p.Leu31947=) c.77457G>T (p.Leu25819=) c.98952G>T (p.Leu32984=) c.98949G>T (p.Leu32983=) c.98382G>T (p.Leu32794=) c.95724G>T (p.Leu31908=) c.95643G>T (p.Leu31881=) c.77406G>T (p.Leu25802=) c.67260G>T (p.Leu22420=) | |
2 | g.178532104C= | CA1310518080 | TTN,TTN-AS1 | c.96807G= (p.Leu32269=) c.77892G= (p.Leu25964=) c.77691G= (p.Leu25897=) c.77316G= (p.Leu25772=) c.104511G= (p.Leu34837=) c.99588G= (p.Leu33196=) n.446+8468C= n.220-3628C= c.103608G= (p.Leu34536=) c.77502G= (p.Leu25834=) c.77361G= (p.Leu25787=) c.103404G= (p.Leu34468=) c.98802G= (p.Leu32934=) c.98799G= (p.Leu32933=) c.95841G= (p.Leu31947=) c.77457G= (p.Leu25819=) c.98952G= (p.Leu32984=) c.98949G= (p.Leu32983=) c.98382G= (p.Leu32794=) c.95724G= (p.Leu31908=) c.95643G= (p.Leu31881=) c.77406G= (p.Leu25802=) c.67260G= (p.Leu22420=) | |
2 | g.178532104C>G | CA430235865 | TTN,TTN-AS1 | c.96807G>C (p.Leu32269=) c.77892G>C (p.Leu25964=) c.77691G>C (p.Leu25897=) c.77316G>C (p.Leu25772=) c.104511G>C (p.Leu34837=) c.99588G>C (p.Leu33196=) n.446+8468C>G n.220-3628C>G c.103608G>C (p.Leu34536=) c.77502G>C (p.Leu25834=) c.77361G>C (p.Leu25787=) c.103404G>C (p.Leu34468=) c.98802G>C (p.Leu32934=) c.98799G>C (p.Leu32933=) c.95841G>C (p.Leu31947=) c.77457G>C (p.Leu25819=) c.98952G>C (p.Leu32984=) c.98949G>C (p.Leu32983=) c.98382G>C (p.Leu32794=) c.95724G>C (p.Leu31908=) c.95643G>C (p.Leu31881=) c.77406G>C (p.Leu25802=) c.67260G>C (p.Leu22420=) | |
2 | g.178532104C>T | CA430235866 | TTN,TTN-AS1 | c.96807G>A (p.Leu32269=) c.77892G>A (p.Leu25964=) c.77691G>A (p.Leu25897=) c.77316G>A (p.Leu25772=) c.104511G>A (p.Leu34837=) c.99588G>A (p.Leu33196=) n.446+8468C>T n.220-3628C>T c.103608G>A (p.Leu34536=) c.77502G>A (p.Leu25834=) c.77361G>A (p.Leu25787=) c.103404G>A (p.Leu34468=) c.98802G>A (p.Leu32934=) c.98799G>A (p.Leu32933=) c.95841G>A (p.Leu31947=) c.77457G>A (p.Leu25819=) c.98952G>A (p.Leu32984=) c.98949G>A (p.Leu32983=) c.98382G>A (p.Leu32794=) c.95724G>A (p.Leu31908=) c.95643G>A (p.Leu31881=) c.77406G>A (p.Leu25802=) c.67260G>A (p.Leu22420=) | dbSNP gnomAD v4 |
2 | g.178532104_178532107delinsCAGT | CA1310518081 | TTN,TTN-AS1 | c.96804_96807delinsACTG (p.Leu32268=) c.77889_77892delinsACTG (p.Leu25963=) c.77688_77691delinsACTG (p.Leu25896=) c.77313_77316delinsACTG (p.Leu25771=) c.104508_104511delinsACTG (p.Leu34836=) c.99585_99588delinsACTG (p.Leu33195=) n.446+8468_446+8471delinsCAGT n.220-3628_220-3625delinsCAGT c.103605_103608delinsACTG (p.Leu34535=) c.77499_77502delinsACTG (p.Leu25833=) c.77358_77361delinsACTG (p.Leu25786=) c.103401_103404delinsACTG (p.Leu34467=) c.98799_98802delinsACTG (p.Leu32933=) c.98796_98799delinsACTG (p.Leu32932=) c.95838_95841delinsACTG (p.Leu31946=) c.77454_77457delinsACTG (p.Leu25818=) c.98949_98952delinsACTG (p.Leu32983=) c.98946_98949delinsACTG (p.Leu32982=) c.98379_98382delinsACTG (p.Leu32793=) c.95721_95724delinsACTG (p.Leu31907=) c.95640_95643delinsACTG (p.Leu31880=) c.77403_77406delinsACTG (p.Leu25801=) c.67257_67260delinsACTG (p.Leu22419=) | |
2 | g.178532105A>C | CA349411508 | TTN,TTN-AS1 | c.96806T>G (p.Leu32269Arg) c.77891T>G (p.Leu25964Arg) c.77690T>G (p.Leu25897Arg) c.77315T>G (p.Leu25772Arg) c.104510T>G (p.Leu34837Arg) c.99587T>G (p.Leu33196Arg) n.446+8469A>C n.220-3627A>C c.103607T>G (p.Leu34536Arg) c.77501T>G (p.Leu25834Arg) c.77360T>G (p.Leu25787Arg) c.103403T>G (p.Leu34468Arg) c.98801T>G (p.Leu32934Arg) c.98798T>G (p.Leu32933Arg) c.95840T>G (p.Leu31947Arg) c.77456T>G (p.Leu25819Arg) c.98951T>G (p.Leu32984Arg) c.98948T>G (p.Leu32983Arg) c.98381T>G (p.Leu32794Arg) c.95723T>G (p.Leu31908Arg) c.95642T>G (p.Leu31881Arg) c.77405T>G (p.Leu25802Arg) c.67259T>G (p.Leu22420Arg) | gnomAD v4 |
2 | g.178532105A>G | CA349411506 | TTN,TTN-AS1 | c.96806T>C (p.Leu32269Pro) c.77891T>C (p.Leu25964Pro) c.77690T>C (p.Leu25897Pro) c.77315T>C (p.Leu25772Pro) c.104510T>C (p.Leu34837Pro) c.99587T>C (p.Leu33196Pro) n.446+8469A>G n.220-3627A>G c.103607T>C (p.Leu34536Pro) c.77501T>C (p.Leu25834Pro) c.77360T>C (p.Leu25787Pro) c.103403T>C (p.Leu34468Pro) c.98801T>C (p.Leu32934Pro) c.98798T>C (p.Leu32933Pro) c.95840T>C (p.Leu31947Pro) c.77456T>C (p.Leu25819Pro) c.98951T>C (p.Leu32984Pro) c.98948T>C (p.Leu32983Pro) c.98381T>C (p.Leu32794Pro) c.95723T>C (p.Leu31908Pro) c.95642T>C (p.Leu31881Pro) c.77405T>C (p.Leu25802Pro) c.67259T>C (p.Leu22420Pro) | |
2 | g.178532105A>T | CA349411503 | TTN,TTN-AS1 | c.96806T>A (p.Leu32269Gln) c.77891T>A (p.Leu25964Gln) c.77690T>A (p.Leu25897Gln) c.77315T>A (p.Leu25772Gln) c.104510T>A (p.Leu34837Gln) c.99587T>A (p.Leu33196Gln) n.446+8469A>T n.220-3627A>T c.103607T>A (p.Leu34536Gln) c.77501T>A (p.Leu25834Gln) c.77360T>A (p.Leu25787Gln) c.103403T>A (p.Leu34468Gln) c.98801T>A (p.Leu32934Gln) c.98798T>A (p.Leu32933Gln) c.95840T>A (p.Leu31947Gln) c.77456T>A (p.Leu25819Gln) c.98951T>A (p.Leu32984Gln) c.98948T>A (p.Leu32983Gln) c.98381T>A (p.Leu32794Gln) c.95723T>A (p.Leu31908Gln) c.95642T>A (p.Leu31881Gln) c.77405T>A (p.Leu25802Gln) c.67259T>A (p.Leu22420Gln) | |
2 | g.178532105_178532106del | CA2580064585 | TTN,TTN-AS1 | c.96805_96806del (p.Leu32269GlufsTer12) c.77890_77891del (p.Leu25964GlufsTer12) c.77689_77690del (p.Leu25897GlufsTer12) c.77314_77315del (p.Leu25772GlufsTer12) c.104509_104510del (p.Leu34837GlufsTer12) c.99586_99587del (p.Leu33196GlufsTer12) n.446+8469_446+8470del n.220-3627_220-3626del c.103606_103607del (p.Leu34536GlufsTer12) c.77500_77501del (p.Leu25834GlufsTer12) c.77359_77360del (p.Leu25787GlufsTer12) c.103402_103403del (p.Leu34468GlufsTer12) c.98800_98801del (p.Leu32934GlufsTer12) c.98797_98798del (p.Leu32933GlufsTer12) c.95839_95840del (p.Leu31947GlufsTer12) c.77455_77456del (p.Leu25819GlufsTer12) c.98950_98951del (p.Leu32984GlufsTer12) c.98947_98948del (p.Leu32983GlufsTer12) c.98380_98381del (p.Leu32794GlufsTer12) c.95722_95723del (p.Leu31908GlufsTer12) c.95641_95642del (p.Leu31881GlufsTer12) c.77404_77405del (p.Leu25802GlufsTer12) c.67258_67259del (p.Leu22420GlufsTer12) | ClinVar |
2 | g.178532108_178532110del | CA1985414 | TTN,TTN-AS1 | c.96804_96806del (p.Leu32269del) c.77889_77891del (p.Leu25964del) c.77688_77690del (p.Leu25897del) c.77313_77315del (p.Leu25772del) c.104508_104510del (p.Leu34837del) c.99585_99587del (p.Leu33196del) n.446+8472_446+8474del n.220-3624_220-3622del c.103605_103607del (p.Leu34536del) c.77499_77501del (p.Leu25834del) c.77358_77360del (p.Leu25787del) c.103401_103403del (p.Leu34468del) c.98799_98801del (p.Leu32934del) c.98796_98798del (p.Leu32933del) c.95838_95840del (p.Leu31947del) c.77454_77456del (p.Leu25819del) c.98949_98951del (p.Leu32984del) c.98946_98948del (p.Leu32983del) c.98379_98381del (p.Leu32794del) c.95721_95723del (p.Leu31908del) c.95640_95642del (p.Leu31881del) c.77403_77405del (p.Leu25802del) c.67257_67259del (p.Leu22420del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178532106G>A | CA430235867 | TTN,TTN-AS1 | c.96805C>T (p.Leu32269=) c.77890C>T (p.Leu25964=) c.77689C>T (p.Leu25897=) c.77314C>T (p.Leu25772=) c.104509C>T (p.Leu34837=) c.99586C>T (p.Leu33196=) n.446+8470G>A n.220-3626G>A c.103606C>T (p.Leu34536=) c.77500C>T (p.Leu25834=) c.77359C>T (p.Leu25787=) c.103402C>T (p.Leu34468=) c.98800C>T (p.Leu32934=) c.98797C>T (p.Leu32933=) c.95839C>T (p.Leu31947=) c.77455C>T (p.Leu25819=) c.98950C>T (p.Leu32984=) c.98947C>T (p.Leu32983=) c.98380C>T (p.Leu32794=) c.95722C>T (p.Leu31908=) c.95641C>T (p.Leu31881=) c.77404C>T (p.Leu25802=) c.67258C>T (p.Leu22420=) | gnomAD v4 |
2 | g.178532106G>C | CA349411509 | TTN,TTN-AS1 | c.96805C>G (p.Leu32269Val) c.77890C>G (p.Leu25964Val) c.77689C>G (p.Leu25897Val) c.77314C>G (p.Leu25772Val) c.104509C>G (p.Leu34837Val) c.99586C>G (p.Leu33196Val) n.446+8470G>C n.220-3626G>C c.103606C>G (p.Leu34536Val) c.77500C>G (p.Leu25834Val) c.77359C>G (p.Leu25787Val) c.103402C>G (p.Leu34468Val) c.98800C>G (p.Leu32934Val) c.98797C>G (p.Leu32933Val) c.95839C>G (p.Leu31947Val) c.77455C>G (p.Leu25819Val) c.98950C>G (p.Leu32984Val) c.98947C>G (p.Leu32983Val) c.98380C>G (p.Leu32794Val) c.95722C>G (p.Leu31908Val) c.95641C>G (p.Leu31881Val) c.77404C>G (p.Leu25802Val) c.67258C>G (p.Leu22420Val) | ClinVar gnomAD v4 |
2 | g.178532106G>T | CA349411511 | TTN,TTN-AS1 | c.96805C>A (p.Leu32269Met) c.77890C>A (p.Leu25964Met) c.77689C>A (p.Leu25897Met) c.77314C>A (p.Leu25772Met) c.104509C>A (p.Leu34837Met) c.99586C>A (p.Leu33196Met) n.446+8470G>T n.220-3626G>T c.103606C>A (p.Leu34536Met) c.77500C>A (p.Leu25834Met) c.77359C>A (p.Leu25787Met) c.103402C>A (p.Leu34468Met) c.98800C>A (p.Leu32934Met) c.98797C>A (p.Leu32933Met) c.95839C>A (p.Leu31947Met) c.77455C>A (p.Leu25819Met) c.98950C>A (p.Leu32984Met) c.98947C>A (p.Leu32983Met) c.98380C>A (p.Leu32794Met) c.95722C>A (p.Leu31908Met) c.95641C>A (p.Leu31881Met) c.77404C>A (p.Leu25802Met) c.67258C>A (p.Leu22420Met) | |
2 | g.178532107T>A | CA430235868 | TTN,TTN-AS1 | c.96804A>T (p.Leu32268=) c.77889A>T (p.Leu25963=) c.77688A>T (p.Leu25896=) c.77313A>T (p.Leu25771=) c.104508A>T (p.Leu34836=) c.99585A>T (p.Leu33195=) n.446+8471T>A n.220-3625T>A c.103605A>T (p.Leu34535=) c.77499A>T (p.Leu25833=) c.77358A>T (p.Leu25786=) c.103401A>T (p.Leu34467=) c.98799A>T (p.Leu32933=) c.98796A>T (p.Leu32932=) c.95838A>T (p.Leu31946=) c.77454A>T (p.Leu25818=) c.98949A>T (p.Leu32983=) c.98946A>T (p.Leu32982=) c.98379A>T (p.Leu32793=) c.95721A>T (p.Leu31907=) c.95640A>T (p.Leu31880=) c.77403A>T (p.Leu25801=) c.67257A>T (p.Leu22419=) | |
2 | g.178532107T>C | CA430235869 | TTN,TTN-AS1 | c.96804A>G (p.Leu32268=) c.77889A>G (p.Leu25963=) c.77688A>G (p.Leu25896=) c.77313A>G (p.Leu25771=) c.104508A>G (p.Leu34836=) c.99585A>G (p.Leu33195=) n.446+8471T>C n.220-3625T>C c.103605A>G (p.Leu34535=) c.77499A>G (p.Leu25833=) c.77358A>G (p.Leu25786=) c.103401A>G (p.Leu34467=) c.98799A>G (p.Leu32933=) c.98796A>G (p.Leu32932=) c.95838A>G (p.Leu31946=) c.77454A>G (p.Leu25818=) c.98949A>G (p.Leu32983=) c.98946A>G (p.Leu32982=) c.98379A>G (p.Leu32793=) c.95721A>G (p.Leu31907=) c.95640A>G (p.Leu31880=) c.77403A>G (p.Leu25801=) c.67257A>G (p.Leu22419=) | |
2 | g.178532107T>G | CA430235870 | TTN,TTN-AS1 | c.96804A>C (p.Leu32268=) c.77889A>C (p.Leu25963=) c.77688A>C (p.Leu25896=) c.77313A>C (p.Leu25771=) c.104508A>C (p.Leu34836=) c.99585A>C (p.Leu33195=) n.446+8471T>G n.220-3625T>G c.103605A>C (p.Leu34535=) c.77499A>C (p.Leu25833=) c.77358A>C (p.Leu25786=) c.103401A>C (p.Leu34467=) c.98799A>C (p.Leu32933=) c.98796A>C (p.Leu32932=) c.95838A>C (p.Leu31946=) c.77454A>C (p.Leu25818=) c.98949A>C (p.Leu32983=) c.98946A>C (p.Leu32982=) c.98379A>C (p.Leu32793=) c.95721A>C (p.Leu31907=) c.95640A>C (p.Leu31880=) c.77403A>C (p.Leu25801=) c.67257A>C (p.Leu22419=) | |
2 | g.178532108A>C | CA349411513 | TTN,TTN-AS1 | c.96803T>G (p.Leu32268Arg) c.77888T>G (p.Leu25963Arg) c.77687T>G (p.Leu25896Arg) c.77312T>G (p.Leu25771Arg) c.104507T>G (p.Leu34836Arg) c.99584T>G (p.Leu33195Arg) n.446+8472A>C n.220-3624A>C c.103604T>G (p.Leu34535Arg) c.77498T>G (p.Leu25833Arg) c.77357T>G (p.Leu25786Arg) c.103400T>G (p.Leu34467Arg) c.98798T>G (p.Leu32933Arg) c.98795T>G (p.Leu32932Arg) c.95837T>G (p.Leu31946Arg) c.77453T>G (p.Leu25818Arg) c.98948T>G (p.Leu32983Arg) c.98945T>G (p.Leu32982Arg) c.98378T>G (p.Leu32793Arg) c.95720T>G (p.Leu31907Arg) c.95639T>G (p.Leu31880Arg) c.77402T>G (p.Leu25801Arg) c.67256T>G (p.Leu22419Arg) | |
2 | g.178532108A>G | CA349411514 | TTN,TTN-AS1 | c.96803T>C (p.Leu32268Pro) c.77888T>C (p.Leu25963Pro) c.77687T>C (p.Leu25896Pro) c.77312T>C (p.Leu25771Pro) c.104507T>C (p.Leu34836Pro) c.99584T>C (p.Leu33195Pro) n.446+8472A>G n.220-3624A>G c.103604T>C (p.Leu34535Pro) c.77498T>C (p.Leu25833Pro) c.77357T>C (p.Leu25786Pro) c.103400T>C (p.Leu34467Pro) c.98798T>C (p.Leu32933Pro) c.98795T>C (p.Leu32932Pro) c.95837T>C (p.Leu31946Pro) c.77453T>C (p.Leu25818Pro) c.98948T>C (p.Leu32983Pro) c.98945T>C (p.Leu32982Pro) c.98378T>C (p.Leu32793Pro) c.95720T>C (p.Leu31907Pro) c.95639T>C (p.Leu31880Pro) c.77402T>C (p.Leu25801Pro) c.67256T>C (p.Leu22419Pro) | |
2 | g.178532108A>T | CA349411516 | TTN,TTN-AS1 | c.96803T>A (p.Leu32268Gln) c.77888T>A (p.Leu25963Gln) c.77687T>A (p.Leu25896Gln) c.77312T>A (p.Leu25771Gln) c.104507T>A (p.Leu34836Gln) c.99584T>A (p.Leu33195Gln) n.446+8472A>T n.220-3624A>T c.103604T>A (p.Leu34535Gln) c.77498T>A (p.Leu25833Gln) c.77357T>A (p.Leu25786Gln) c.103400T>A (p.Leu34467Gln) c.98798T>A (p.Leu32933Gln) c.98795T>A (p.Leu32932Gln) c.95837T>A (p.Leu31946Gln) c.77453T>A (p.Leu25818Gln) c.98948T>A (p.Leu32983Gln) c.98945T>A (p.Leu32982Gln) c.98378T>A (p.Leu32793Gln) c.95720T>A (p.Leu31907Gln) c.95639T>A (p.Leu31880Gln) c.77402T>A (p.Leu25801Gln) c.67256T>A (p.Leu22419Gln) | |
2 | g.178532109G>A | CA430235871 | TTN,TTN-AS1 | c.96802C>T (p.Leu32268=) c.77887C>T (p.Leu25963=) c.77686C>T (p.Leu25896=) c.77311C>T (p.Leu25771=) c.104506C>T (p.Leu34836=) c.99583C>T (p.Leu33195=) n.446+8473G>A n.220-3623G>A c.103603C>T (p.Leu34535=) c.77497C>T (p.Leu25833=) c.77356C>T (p.Leu25786=) c.103399C>T (p.Leu34467=) c.98797C>T (p.Leu32933=) c.98794C>T (p.Leu32932=) c.95836C>T (p.Leu31946=) c.77452C>T (p.Leu25818=) c.98947C>T (p.Leu32983=) c.98944C>T (p.Leu32982=) c.98377C>T (p.Leu32793=) c.95719C>T (p.Leu31907=) c.95638C>T (p.Leu31880=) c.77401C>T (p.Leu25801=) c.67255C>T (p.Leu22419=) | gnomAD v4 |
2 | g.178532109G>C | CA349411517 | TTN,TTN-AS1 | c.96802C>G (p.Leu32268Val) c.77887C>G (p.Leu25963Val) c.77686C>G (p.Leu25896Val) c.77311C>G (p.Leu25771Val) c.104506C>G (p.Leu34836Val) c.99583C>G (p.Leu33195Val) n.446+8473G>C n.220-3623G>C c.103603C>G (p.Leu34535Val) c.77497C>G (p.Leu25833Val) c.77356C>G (p.Leu25786Val) c.103399C>G (p.Leu34467Val) c.98797C>G (p.Leu32933Val) c.98794C>G (p.Leu32932Val) c.95836C>G (p.Leu31946Val) c.77452C>G (p.Leu25818Val) c.98947C>G (p.Leu32983Val) c.98944C>G (p.Leu32982Val) c.98377C>G (p.Leu32793Val) c.95719C>G (p.Leu31907Val) c.95638C>G (p.Leu31880Val) c.77401C>G (p.Leu25801Val) c.67255C>G (p.Leu22419Val) | |
2 | g.178532109G= | CA1310518082 | TTN,TTN-AS1 | c.96802C= (p.Leu32268=) c.77887C= (p.Leu25963=) c.77686C= (p.Leu25896=) c.77311C= (p.Leu25771=) c.104506C= (p.Leu34836=) c.99583C= (p.Leu33195=) n.446+8473G= n.220-3623G= c.103603C= (p.Leu34535=) c.77497C= (p.Leu25833=) c.77356C= (p.Leu25786=) c.103399C= (p.Leu34467=) c.98797C= (p.Leu32933=) c.98794C= (p.Leu32932=) c.95836C= (p.Leu31946=) c.77452C= (p.Leu25818=) c.98947C= (p.Leu32983=) c.98944C= (p.Leu32982=) c.98377C= (p.Leu32793=) c.95719C= (p.Leu31907=) c.95638C= (p.Leu31880=) c.77401C= (p.Leu25801=) c.67255C= (p.Leu22419=) | |
2 | g.178532109G>T | CA349411519 | TTN,TTN-AS1 | c.96802C>A (p.Leu32268Ile) c.77887C>A (p.Leu25963Ile) c.77686C>A (p.Leu25896Ile) c.77311C>A (p.Leu25771Ile) c.104506C>A (p.Leu34836Ile) c.99583C>A (p.Leu33195Ile) n.446+8473G>T n.220-3623G>T c.103603C>A (p.Leu34535Ile) c.77497C>A (p.Leu25833Ile) c.77356C>A (p.Leu25786Ile) c.103399C>A (p.Leu34467Ile) c.98797C>A (p.Leu32933Ile) c.98794C>A (p.Leu32932Ile) c.95836C>A (p.Leu31946Ile) c.77452C>A (p.Leu25818Ile) c.98947C>A (p.Leu32983Ile) c.98944C>A (p.Leu32982Ile) c.98377C>A (p.Leu32793Ile) c.95719C>A (p.Leu31907Ile) c.95638C>A (p.Leu31880Ile) c.77401C>A (p.Leu25801Ile) c.67255C>A (p.Leu22419Ile) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178532110T>A | CA349411521 | TTN,TTN-AS1 | c.96801A>T (p.Arg32267Ser) c.77886A>T (p.Arg25962Ser) c.77685A>T (p.Arg25895Ser) c.77310A>T (p.Arg25770Ser) c.104505A>T (p.Arg34835Ser) c.99582A>T (p.Arg33194Ser) n.446+8474T>A n.220-3622T>A c.103602A>T (p.Arg34534Ser) c.77496A>T (p.Arg25832Ser) c.77355A>T (p.Arg25785Ser) c.103398A>T (p.Arg34466Ser) c.98796A>T (p.Arg32932Ser) c.98793A>T (p.Arg32931Ser) c.95835A>T (p.Arg31945Ser) c.77451A>T (p.Arg25817Ser) c.98946A>T (p.Arg32982Ser) c.98943A>T (p.Arg32981Ser) c.98376A>T (p.Arg32792Ser) c.95718A>T (p.Arg31906Ser) c.95637A>T (p.Arg31879Ser) c.77400A>T (p.Arg25800Ser) c.67254A>T (p.Arg22418Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.178532110T>C | CA430235872 | TTN,TTN-AS1 | c.96801A>G (p.Arg32267=) c.77886A>G (p.Arg25962=) c.77685A>G (p.Arg25895=) c.77310A>G (p.Arg25770=) c.104505A>G (p.Arg34835=) c.99582A>G (p.Arg33194=) n.446+8474T>C n.220-3622T>C c.103602A>G (p.Arg34534=) c.77496A>G (p.Arg25832=) c.77355A>G (p.Arg25785=) c.103398A>G (p.Arg34466=) c.98796A>G (p.Arg32932=) c.98793A>G (p.Arg32931=) c.95835A>G (p.Arg31945=) c.77451A>G (p.Arg25817=) c.98946A>G (p.Arg32982=) c.98943A>G (p.Arg32981=) c.98376A>G (p.Arg32792=) c.95718A>G (p.Arg31906=) c.95637A>G (p.Arg31879=) c.77400A>G (p.Arg25800=) c.67254A>G (p.Arg22418=) | |
2 | g.178532110T>G | CA349411522 | TTN,TTN-AS1 | c.96801A>C (p.Arg32267Ser) c.77886A>C (p.Arg25962Ser) c.77685A>C (p.Arg25895Ser) c.77310A>C (p.Arg25770Ser) c.104505A>C (p.Arg34835Ser) c.99582A>C (p.Arg33194Ser) n.446+8474T>G n.220-3622T>G c.103602A>C (p.Arg34534Ser) c.77496A>C (p.Arg25832Ser) c.77355A>C (p.Arg25785Ser) c.103398A>C (p.Arg34466Ser) c.98796A>C (p.Arg32932Ser) c.98793A>C (p.Arg32931Ser) c.95835A>C (p.Arg31945Ser) c.77451A>C (p.Arg25817Ser) c.98946A>C (p.Arg32982Ser) c.98943A>C (p.Arg32981Ser) c.98376A>C (p.Arg32792Ser) c.95718A>C (p.Arg31906Ser) c.95637A>C (p.Arg31879Ser) c.77400A>C (p.Arg25800Ser) c.67254A>C (p.Arg22418Ser) | |
2 | g.178532110T= | CA1310518083 | TTN,TTN-AS1 | c.96801A= (p.Arg32267=) c.77886A= (p.Arg25962=) c.77685A= (p.Arg25895=) c.77310A= (p.Arg25770=) c.104505A= (p.Arg34835=) c.99582A= (p.Arg33194=) n.446+8474T= n.220-3622T= c.103602A= (p.Arg34534=) c.77496A= (p.Arg25832=) c.77355A= (p.Arg25785=) c.103398A= (p.Arg34466=) c.98796A= (p.Arg32932=) c.98793A= (p.Arg32931=) c.95835A= (p.Arg31945=) c.77451A= (p.Arg25817=) c.98946A= (p.Arg32982=) c.98943A= (p.Arg32981=) c.98376A= (p.Arg32792=) c.95718A= (p.Arg31906=) c.95637A= (p.Arg31879=) c.77400A= (p.Arg25800=) c.67254A= (p.Arg22418=) | |
2 | g.178532111C>A | CA349411525 | TTN,TTN-AS1 | c.96800G>T (p.Arg32267Ile) c.77885G>T (p.Arg25962Ile) c.77684G>T (p.Arg25895Ile) c.77309G>T (p.Arg25770Ile) c.104504G>T (p.Arg34835Ile) c.99581G>T (p.Arg33194Ile) n.446+8475C>A n.220-3621C>A c.103601G>T (p.Arg34534Ile) c.77495G>T (p.Arg25832Ile) c.77354G>T (p.Arg25785Ile) c.103397G>T (p.Arg34466Ile) c.98795G>T (p.Arg32932Ile) c.98792G>T (p.Arg32931Ile) c.95834G>T (p.Arg31945Ile) c.77450G>T (p.Arg25817Ile) c.98945G>T (p.Arg32982Ile) c.98942G>T (p.Arg32981Ile) c.98375G>T (p.Arg32792Ile) c.95717G>T (p.Arg31906Ile) c.95636G>T (p.Arg31879Ile) c.77399G>T (p.Arg25800Ile) c.67253G>T (p.Arg22418Ile) | |
2 | g.178532111C>G | CA349411526 | TTN,TTN-AS1 | c.96800G>C (p.Arg32267Thr) c.77885G>C (p.Arg25962Thr) c.77684G>C (p.Arg25895Thr) c.77309G>C (p.Arg25770Thr) c.104504G>C (p.Arg34835Thr) c.99581G>C (p.Arg33194Thr) n.446+8475C>G n.220-3621C>G c.103601G>C (p.Arg34534Thr) c.77495G>C (p.Arg25832Thr) c.77354G>C (p.Arg25785Thr) c.103397G>C (p.Arg34466Thr) c.98795G>C (p.Arg32932Thr) c.98792G>C (p.Arg32931Thr) c.95834G>C (p.Arg31945Thr) c.77450G>C (p.Arg25817Thr) c.98945G>C (p.Arg32982Thr) c.98942G>C (p.Arg32981Thr) c.98375G>C (p.Arg32792Thr) c.95717G>C (p.Arg31906Thr) c.95636G>C (p.Arg31879Thr) c.77399G>C (p.Arg25800Thr) c.67253G>C (p.Arg22418Thr) | ClinVar dbSNP |
2 | g.178532111C>T | CA349411528 | TTN,TTN-AS1 | c.96800G>A (p.Arg32267Lys) c.77885G>A (p.Arg25962Lys) c.77684G>A (p.Arg25895Lys) c.77309G>A (p.Arg25770Lys) c.104504G>A (p.Arg34835Lys) c.99581G>A (p.Arg33194Lys) n.446+8475C>T n.220-3621C>T c.103601G>A (p.Arg34534Lys) c.77495G>A (p.Arg25832Lys) c.77354G>A (p.Arg25785Lys) c.103397G>A (p.Arg34466Lys) c.98795G>A (p.Arg32932Lys) c.98792G>A (p.Arg32931Lys) c.95834G>A (p.Arg31945Lys) c.77450G>A (p.Arg25817Lys) c.98945G>A (p.Arg32982Lys) c.98942G>A (p.Arg32981Lys) c.98375G>A (p.Arg32792Lys) c.95717G>A (p.Arg31906Lys) c.95636G>A (p.Arg31879Lys) c.77399G>A (p.Arg25800Lys) c.67253G>A (p.Arg22418Lys) | |
2 | g.178532112T>A | CA349411531 | TTN,TTN-AS1 | c.96799A>T (p.Arg32267Ter) c.77884A>T (p.Arg25962Ter) c.77683A>T (p.Arg25895Ter) c.77308A>T (p.Arg25770Ter) c.104503A>T (p.Arg34835Ter) c.99580A>T (p.Arg33194Ter) n.446+8476T>A n.220-3620T>A c.103600A>T (p.Arg34534Ter) c.77494A>T (p.Arg25832Ter) c.77353A>T (p.Arg25785Ter) c.103396A>T (p.Arg34466Ter) c.98794A>T (p.Arg32932Ter) c.98791A>T (p.Arg32931Ter) c.95833A>T (p.Arg31945Ter) c.77449A>T (p.Arg25817Ter) c.98944A>T (p.Arg32982Ter) c.98941A>T (p.Arg32981Ter) c.98374A>T (p.Arg32792Ter) c.95716A>T (p.Arg31906Ter) c.95635A>T (p.Arg31879Ter) c.77398A>T (p.Arg25800Ter) c.67252A>T (p.Arg22418Ter) | |
2 | g.178532112T>C | CA60956164 | TTN,TTN-AS1 | c.96799A>G (p.Arg32267Gly) c.77884A>G (p.Arg25962Gly) c.77683A>G (p.Arg25895Gly) c.77308A>G (p.Arg25770Gly) c.104503A>G (p.Arg34835Gly) c.99580A>G (p.Arg33194Gly) n.446+8476T>C n.220-3620T>C c.103600A>G (p.Arg34534Gly) c.77494A>G (p.Arg25832Gly) c.77353A>G (p.Arg25785Gly) c.103396A>G (p.Arg34466Gly) c.98794A>G (p.Arg32932Gly) c.98791A>G (p.Arg32931Gly) c.95833A>G (p.Arg31945Gly) c.77449A>G (p.Arg25817Gly) c.98944A>G (p.Arg32982Gly) c.98941A>G (p.Arg32981Gly) c.98374A>G (p.Arg32792Gly) c.95716A>G (p.Arg31906Gly) c.95635A>G (p.Arg31879Gly) c.77398A>G (p.Arg25800Gly) c.67252A>G (p.Arg22418Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.178532112T>G | CA430235873 | TTN,TTN-AS1 | c.96799A>C (p.Arg32267=) c.77884A>C (p.Arg25962=) c.77683A>C (p.Arg25895=) c.77308A>C (p.Arg25770=) c.104503A>C (p.Arg34835=) c.99580A>C (p.Arg33194=) n.446+8476T>G n.220-3620T>G c.103600A>C (p.Arg34534=) c.77494A>C (p.Arg25832=) c.77353A>C (p.Arg25785=) c.103396A>C (p.Arg34466=) c.98794A>C (p.Arg32932=) c.98791A>C (p.Arg32931=) c.95833A>C (p.Arg31945=) c.77449A>C (p.Arg25817=) c.98944A>C (p.Arg32982=) c.98941A>C (p.Arg32981=) c.98374A>C (p.Arg32792=) c.95716A>C (p.Arg31906=) c.95635A>C (p.Arg31879=) c.77398A>C (p.Arg25800=) c.67252A>C (p.Arg22418=) | |
2 | g.178532112T= | CA1310518084 | TTN,TTN-AS1 | c.96799A= (p.Arg32267=) c.77884A= (p.Arg25962=) c.77683A= (p.Arg25895=) c.77308A= (p.Arg25770=) c.104503A= (p.Arg34835=) c.99580A= (p.Arg33194=) n.446+8476T= n.220-3620T= c.103600A= (p.Arg34534=) c.77494A= (p.Arg25832=) c.77353A= (p.Arg25785=) c.103396A= (p.Arg34466=) c.98794A= (p.Arg32932=) c.98791A= (p.Arg32931=) c.95833A= (p.Arg31945=) c.77449A= (p.Arg25817=) c.98944A= (p.Arg32982=) c.98941A= (p.Arg32981=) c.98374A= (p.Arg32792=) c.95716A= (p.Arg31906=) c.95635A= (p.Arg31879=) c.77398A= (p.Arg25800=) c.67252A= (p.Arg22418=) | |
2 | g.178532113A>C | CA430235874 | TTN,TTN-AS1 | c.96798T>G (p.Ser32266=) c.77883T>G (p.Ser25961=) c.77682T>G (p.Ser25894=) c.77307T>G (p.Ser25769=) c.104502T>G (p.Ser34834=) c.99579T>G (p.Ser33193=) n.446+8477A>C n.220-3619A>C c.103599T>G (p.Ser34533=) c.77493T>G (p.Ser25831=) c.77352T>G (p.Ser25784=) c.103395T>G (p.Ser34465=) c.98793T>G (p.Ser32931=) c.98790T>G (p.Ser32930=) c.95832T>G (p.Ser31944=) c.77448T>G (p.Ser25816=) c.98943T>G (p.Ser32981=) c.98940T>G (p.Ser32980=) c.98373T>G (p.Ser32791=) c.95715T>G (p.Ser31905=) c.95634T>G (p.Ser31878=) c.77397T>G (p.Ser25799=) c.67251T>G (p.Ser22417=) | |
2 | g.178532113A>G | CA430235875 | TTN,TTN-AS1 | c.96798T>C (p.Ser32266=) c.77883T>C (p.Ser25961=) c.77682T>C (p.Ser25894=) c.77307T>C (p.Ser25769=) c.104502T>C (p.Ser34834=) c.99579T>C (p.Ser33193=) n.446+8477A>G n.220-3619A>G c.103599T>C (p.Ser34533=) c.77493T>C (p.Ser25831=) c.77352T>C (p.Ser25784=) c.103395T>C (p.Ser34465=) c.98793T>C (p.Ser32931=) c.98790T>C (p.Ser32930=) c.95832T>C (p.Ser31944=) c.77448T>C (p.Ser25816=) c.98943T>C (p.Ser32981=) c.98940T>C (p.Ser32980=) c.98373T>C (p.Ser32791=) c.95715T>C (p.Ser31905=) c.95634T>C (p.Ser31878=) c.77397T>C (p.Ser25799=) c.67251T>C (p.Ser22417=) | dbSNP gnomAD v4 |
2 | g.178532113A>T | CA430235876 | TTN,TTN-AS1 | c.96798T>A (p.Ser32266=) c.77883T>A (p.Ser25961=) c.77682T>A (p.Ser25894=) c.77307T>A (p.Ser25769=) c.104502T>A (p.Ser34834=) c.99579T>A (p.Ser33193=) n.446+8477A>T n.220-3619A>T c.103599T>A (p.Ser34533=) c.77493T>A (p.Ser25831=) c.77352T>A (p.Ser25784=) c.103395T>A (p.Ser34465=) c.98793T>A (p.Ser32931=) c.98790T>A (p.Ser32930=) c.95832T>A (p.Ser31944=) c.77448T>A (p.Ser25816=) c.98943T>A (p.Ser32981=) c.98940T>A (p.Ser32980=) c.98373T>A (p.Ser32791=) c.95715T>A (p.Ser31905=) c.95634T>A (p.Ser31878=) c.77397T>A (p.Ser25799=) c.67251T>A (p.Ser22417=) | |
2 | g.178532114G>A | CA349411533 | TTN,TTN-AS1 | c.96797C>T (p.Ser32266Phe) c.77882C>T (p.Ser25961Phe) c.77681C>T (p.Ser25894Phe) c.77306C>T (p.Ser25769Phe) c.104501C>T (p.Ser34834Phe) c.99578C>T (p.Ser33193Phe) n.446+8478G>A n.220-3618G>A c.103598C>T (p.Ser34533Phe) c.77492C>T (p.Ser25831Phe) c.77351C>T (p.Ser25784Phe) c.103394C>T (p.Ser34465Phe) c.98792C>T (p.Ser32931Phe) c.98789C>T (p.Ser32930Phe) c.95831C>T (p.Ser31944Phe) c.77447C>T (p.Ser25816Phe) c.98942C>T (p.Ser32981Phe) c.98939C>T (p.Ser32980Phe) c.98372C>T (p.Ser32791Phe) c.95714C>T (p.Ser31905Phe) c.95633C>T (p.Ser31878Phe) c.77396C>T (p.Ser25799Phe) c.67250C>T (p.Ser22417Phe) | |
2 | g.178532114G>C | CA1985415 | TTN,TTN-AS1 | c.96797C>G (p.Ser32266Cys) c.77882C>G (p.Ser25961Cys) c.77681C>G (p.Ser25894Cys) c.77306C>G (p.Ser25769Cys) c.104501C>G (p.Ser34834Cys) c.99578C>G (p.Ser33193Cys) n.446+8478G>C n.220-3618G>C c.103598C>G (p.Ser34533Cys) c.77492C>G (p.Ser25831Cys) c.77351C>G (p.Ser25784Cys) c.103394C>G (p.Ser34465Cys) c.98792C>G (p.Ser32931Cys) c.98789C>G (p.Ser32930Cys) c.95831C>G (p.Ser31944Cys) c.77447C>G (p.Ser25816Cys) c.98942C>G (p.Ser32981Cys) c.98939C>G (p.Ser32980Cys) c.98372C>G (p.Ser32791Cys) c.95714C>G (p.Ser31905Cys) c.95633C>G (p.Ser31878Cys) c.77396C>G (p.Ser25799Cys) c.67250C>G (p.Ser22417Cys) | ClinVar dbSNP ExAC gnomAD v2 |
2 | g.178532114G= | CA1310518085 | TTN,TTN-AS1 | c.96797C= (p.Ser32266=) c.77882C= (p.Ser25961=) c.77681C= (p.Ser25894=) c.77306C= (p.Ser25769=) c.104501C= (p.Ser34834=) c.99578C= (p.Ser33193=) n.446+8478G= n.220-3618G= c.103598C= (p.Ser34533=) c.77492C= (p.Ser25831=) c.77351C= (p.Ser25784=) c.103394C= (p.Ser34465=) c.98792C= (p.Ser32931=) c.98789C= (p.Ser32930=) c.95831C= (p.Ser31944=) c.77447C= (p.Ser25816=) c.98942C= (p.Ser32981=) c.98939C= (p.Ser32980=) c.98372C= (p.Ser32791=) c.95714C= (p.Ser31905=) c.95633C= (p.Ser31878=) c.77396C= (p.Ser25799=) c.67250C= (p.Ser22417=) | |
2 | g.178532114G>T | CA349411534 | TTN,TTN-AS1 | c.96797C>A (p.Ser32266Tyr) c.77882C>A (p.Ser25961Tyr) c.77681C>A (p.Ser25894Tyr) c.77306C>A (p.Ser25769Tyr) c.104501C>A (p.Ser34834Tyr) c.99578C>A (p.Ser33193Tyr) n.446+8478G>T n.220-3618G>T c.103598C>A (p.Ser34533Tyr) c.77492C>A (p.Ser25831Tyr) c.77351C>A (p.Ser25784Tyr) c.103394C>A (p.Ser34465Tyr) c.98792C>A (p.Ser32931Tyr) c.98789C>A (p.Ser32930Tyr) c.95831C>A (p.Ser31944Tyr) c.77447C>A (p.Ser25816Tyr) c.98942C>A (p.Ser32981Tyr) c.98939C>A (p.Ser32980Tyr) c.98372C>A (p.Ser32791Tyr) c.95714C>A (p.Ser31905Tyr) c.95633C>A (p.Ser31878Tyr) c.77396C>A (p.Ser25799Tyr) c.67250C>A (p.Ser22417Tyr) | |
2 | g.178532115A>C | CA349411536 | TTN,TTN-AS1 | c.96796T>G (p.Ser32266Ala) c.77881T>G (p.Ser25961Ala) c.77680T>G (p.Ser25894Ala) c.77305T>G (p.Ser25769Ala) c.104500T>G (p.Ser34834Ala) c.99577T>G (p.Ser33193Ala) n.446+8479A>C n.220-3617A>C c.103597T>G (p.Ser34533Ala) c.77491T>G (p.Ser25831Ala) c.77350T>G (p.Ser25784Ala) c.103393T>G (p.Ser34465Ala) c.98791T>G (p.Ser32931Ala) c.98788T>G (p.Ser32930Ala) c.95830T>G (p.Ser31944Ala) c.77446T>G (p.Ser25816Ala) c.98941T>G (p.Ser32981Ala) c.98938T>G (p.Ser32980Ala) c.98371T>G (p.Ser32791Ala) c.95713T>G (p.Ser31905Ala) c.95632T>G (p.Ser31878Ala) c.77395T>G (p.Ser25799Ala) c.67249T>G (p.Ser22417Ala) | |
2 | g.178532115A>G | CA349411538 | TTN,TTN-AS1 | c.96796T>C (p.Ser32266Pro) c.77881T>C (p.Ser25961Pro) c.77680T>C (p.Ser25894Pro) c.77305T>C (p.Ser25769Pro) c.104500T>C (p.Ser34834Pro) c.99577T>C (p.Ser33193Pro) n.446+8479A>G n.220-3617A>G c.103597T>C (p.Ser34533Pro) c.77491T>C (p.Ser25831Pro) c.77350T>C (p.Ser25784Pro) c.103393T>C (p.Ser34465Pro) c.98791T>C (p.Ser32931Pro) c.98788T>C (p.Ser32930Pro) c.95830T>C (p.Ser31944Pro) c.77446T>C (p.Ser25816Pro) c.98941T>C (p.Ser32981Pro) c.98938T>C (p.Ser32980Pro) c.98371T>C (p.Ser32791Pro) c.95713T>C (p.Ser31905Pro) c.95632T>C (p.Ser31878Pro) c.77395T>C (p.Ser25799Pro) c.67249T>C (p.Ser22417Pro) | |
2 | g.178532115A>T | CA349411540 | TTN,TTN-AS1 | c.96796T>A (p.Ser32266Thr) c.77881T>A (p.Ser25961Thr) c.77680T>A (p.Ser25894Thr) c.77305T>A (p.Ser25769Thr) c.104500T>A (p.Ser34834Thr) c.99577T>A (p.Ser33193Thr) n.446+8479A>T n.220-3617A>T c.103597T>A (p.Ser34533Thr) c.77491T>A (p.Ser25831Thr) c.77350T>A (p.Ser25784Thr) c.103393T>A (p.Ser34465Thr) c.98791T>A (p.Ser32931Thr) c.98788T>A (p.Ser32930Thr) c.95830T>A (p.Ser31944Thr) c.77446T>A (p.Ser25816Thr) c.98941T>A (p.Ser32981Thr) c.98938T>A (p.Ser32980Thr) c.98371T>A (p.Ser32791Thr) c.95713T>A (p.Ser31905Thr) c.95632T>A (p.Ser31878Thr) c.77395T>A (p.Ser25799Thr) c.67249T>A (p.Ser22417Thr) | |
2 | g.178532116C>A | CA430235877 | TTN,TTN-AS1 | c.96795G>T (p.Ala32265=) c.77880G>T (p.Ala25960=) c.77679G>T (p.Ala25893=) c.77304G>T (p.Ala25768=) c.104499G>T (p.Ala34833=) c.99576G>T (p.Ala33192=) n.446+8480C>A n.220-3616C>A c.103596G>T (p.Ala34532=) c.77490G>T (p.Ala25830=) c.77349G>T (p.Ala25783=) c.103392G>T (p.Ala34464=) c.98790G>T (p.Ala32930=) c.98787G>T (p.Ala32929=) c.95829G>T (p.Ala31943=) c.77445G>T (p.Ala25815=) c.98940G>T (p.Ala32980=) c.98937G>T (p.Ala32979=) c.98370G>T (p.Ala32790=) c.95712G>T (p.Ala31904=) c.95631G>T (p.Ala31877=) c.77394G>T (p.Ala25798=) c.67248G>T (p.Ala22416=) | |
2 | g.178532116C= | CA1310518086 | TTN,TTN-AS1 | c.96795G= (p.Ala32265=) c.77880G= (p.Ala25960=) c.77679G= (p.Ala25893=) c.77304G= (p.Ala25768=) c.104499G= (p.Ala34833=) c.99576G= (p.Ala33192=) n.446+8480C= n.220-3616C= c.103596G= (p.Ala34532=) c.77490G= (p.Ala25830=) c.77349G= (p.Ala25783=) c.103392G= (p.Ala34464=) c.98790G= (p.Ala32930=) c.98787G= (p.Ala32929=) c.95829G= (p.Ala31943=) c.77445G= (p.Ala25815=) c.98940G= (p.Ala32980=) c.98937G= (p.Ala32979=) c.98370G= (p.Ala32790=) c.95712G= (p.Ala31904=) c.95631G= (p.Ala31877=) c.77394G= (p.Ala25798=) c.67248G= (p.Ala22416=) | |
2 | g.178532116C>G | CA430235878 | TTN,TTN-AS1 | c.96795G>C (p.Ala32265=) c.77880G>C (p.Ala25960=) c.77679G>C (p.Ala25893=) c.77304G>C (p.Ala25768=) c.104499G>C (p.Ala34833=) c.99576G>C (p.Ala33192=) n.446+8480C>G n.220-3616C>G c.103596G>C (p.Ala34532=) c.77490G>C (p.Ala25830=) c.77349G>C (p.Ala25783=) c.103392G>C (p.Ala34464=) c.98790G>C (p.Ala32930=) c.98787G>C (p.Ala32929=) c.95829G>C (p.Ala31943=) c.77445G>C (p.Ala25815=) c.98940G>C (p.Ala32980=) c.98937G>C (p.Ala32979=) c.98370G>C (p.Ala32790=) c.95712G>C (p.Ala31904=) c.95631G>C (p.Ala31877=) c.77394G>C (p.Ala25798=) c.67248G>C (p.Ala22416=) | |
2 | g.178532116C>T | CA1985416 | TTN,TTN-AS1 | c.96795G>A (p.Ala32265=) c.77880G>A (p.Ala25960=) c.77679G>A (p.Ala25893=) c.77304G>A (p.Ala25768=) c.104499G>A (p.Ala34833=) c.99576G>A (p.Ala33192=) n.446+8480C>T n.220-3616C>T c.103596G>A (p.Ala34532=) c.77490G>A (p.Ala25830=) c.77349G>A (p.Ala25783=) c.103392G>A (p.Ala34464=) c.98790G>A (p.Ala32930=) c.98787G>A (p.Ala32929=) c.95829G>A (p.Ala31943=) c.77445G>A (p.Ala25815=) c.98940G>A (p.Ala32980=) c.98937G>A (p.Ala32979=) c.98370G>A (p.Ala32790=) c.95712G>A (p.Ala31904=) c.95631G>A (p.Ala31877=) c.77394G>A (p.Ala25798=) c.67248G>A (p.Ala22416=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178532117G>A | CA349411541 | TTN,TTN-AS1 | c.96794C>T (p.Ala32265Val) c.77879C>T (p.Ala25960Val) c.77678C>T (p.Ala25893Val) c.77303C>T (p.Ala25768Val) c.104498C>T (p.Ala34833Val) c.99575C>T (p.Ala33192Val) n.446+8481G>A n.220-3615G>A c.103595C>T (p.Ala34532Val) c.77489C>T (p.Ala25830Val) c.77348C>T (p.Ala25783Val) c.103391C>T (p.Ala34464Val) c.98789C>T (p.Ala32930Val) c.98786C>T (p.Ala32929Val) c.95828C>T (p.Ala31943Val) c.77444C>T (p.Ala25815Val) c.98939C>T (p.Ala32980Val) c.98936C>T (p.Ala32979Val) c.98369C>T (p.Ala32790Val) c.95711C>T (p.Ala31904Val) c.95630C>T (p.Ala31877Val) c.77393C>T (p.Ala25798Val) c.67247C>T (p.Ala22416Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.178532117G>C | CA349411542 | TTN,TTN-AS1 | c.96794C>G (p.Ala32265Gly) c.77879C>G (p.Ala25960Gly) c.77678C>G (p.Ala25893Gly) c.77303C>G (p.Ala25768Gly) c.104498C>G (p.Ala34833Gly) c.99575C>G (p.Ala33192Gly) n.446+8481G>C n.220-3615G>C c.103595C>G (p.Ala34532Gly) c.77489C>G (p.Ala25830Gly) c.77348C>G (p.Ala25783Gly) c.103391C>G (p.Ala34464Gly) c.98789C>G (p.Ala32930Gly) c.98786C>G (p.Ala32929Gly) c.95828C>G (p.Ala31943Gly) c.77444C>G (p.Ala25815Gly) c.98939C>G (p.Ala32980Gly) c.98936C>G (p.Ala32979Gly) c.98369C>G (p.Ala32790Gly) c.95711C>G (p.Ala31904Gly) c.95630C>G (p.Ala31877Gly) c.77393C>G (p.Ala25798Gly) c.67247C>G (p.Ala22416Gly) | ClinVar |
2 | g.178532117G= | CA1310518087 | TTN,TTN-AS1 | c.96794C= (p.Ala32265=) c.77879C= (p.Ala25960=) c.77678C= (p.Ala25893=) c.77303C= (p.Ala25768=) c.104498C= (p.Ala34833=) c.99575C= (p.Ala33192=) n.446+8481G= n.220-3615G= c.103595C= (p.Ala34532=) c.77489C= (p.Ala25830=) c.77348C= (p.Ala25783=) c.103391C= (p.Ala34464=) c.98789C= (p.Ala32930=) c.98786C= (p.Ala32929=) c.95828C= (p.Ala31943=) c.77444C= (p.Ala25815=) c.98939C= (p.Ala32980=) c.98936C= (p.Ala32979=) c.98369C= (p.Ala32790=) c.95711C= (p.Ala31904=) c.95630C= (p.Ala31877=) c.77393C= (p.Ala25798=) c.67247C= (p.Ala22416=) | |
2 | g.178532117G>T | CA349411543 | TTN,TTN-AS1 | c.96794C>A (p.Ala32265Glu) c.77879C>A (p.Ala25960Glu) c.77678C>A (p.Ala25893Glu) c.77303C>A (p.Ala25768Glu) c.104498C>A (p.Ala34833Glu) c.99575C>A (p.Ala33192Glu) n.446+8481G>T n.220-3615G>T c.103595C>A (p.Ala34532Glu) c.77489C>A (p.Ala25830Glu) c.77348C>A (p.Ala25783Glu) c.103391C>A (p.Ala34464Glu) c.98789C>A (p.Ala32930Glu) c.98786C>A (p.Ala32929Glu) c.95828C>A (p.Ala31943Glu) c.77444C>A (p.Ala25815Glu) c.98939C>A (p.Ala32980Glu) c.98936C>A (p.Ala32979Glu) c.98369C>A (p.Ala32790Glu) c.95711C>A (p.Ala31904Glu) c.95630C>A (p.Ala31877Glu) c.77393C>A (p.Ala25798Glu) c.67247C>A (p.Ala22416Glu) | |
2 | g.178532118C>A | CA349411546 | TTN,TTN-AS1 | c.96793G>T (p.Ala32265Ser) c.77878G>T (p.Ala25960Ser) c.77677G>T (p.Ala25893Ser) c.77302G>T (p.Ala25768Ser) c.104497G>T (p.Ala34833Ser) c.99574G>T (p.Ala33192Ser) n.446+8482C>A n.220-3614C>A c.103594G>T (p.Ala34532Ser) c.77488G>T (p.Ala25830Ser) c.77347G>T (p.Ala25783Ser) c.103390G>T (p.Ala34464Ser) c.98788G>T (p.Ala32930Ser) c.98785G>T (p.Ala32929Ser) c.95827G>T (p.Ala31943Ser) c.77443G>T (p.Ala25815Ser) c.98938G>T (p.Ala32980Ser) c.98935G>T (p.Ala32979Ser) c.98368G>T (p.Ala32790Ser) c.95710G>T (p.Ala31904Ser) c.95629G>T (p.Ala31877Ser) c.77392G>T (p.Ala25798Ser) c.67246G>T (p.Ala22416Ser) | |
2 | g.178532118C>G | CA349411547 | TTN,TTN-AS1 | c.96793G>C (p.Ala32265Pro) c.77878G>C (p.Ala25960Pro) c.77677G>C (p.Ala25893Pro) c.77302G>C (p.Ala25768Pro) c.104497G>C (p.Ala34833Pro) c.99574G>C (p.Ala33192Pro) n.446+8482C>G n.220-3614C>G c.103594G>C (p.Ala34532Pro) c.77488G>C (p.Ala25830Pro) c.77347G>C (p.Ala25783Pro) c.103390G>C (p.Ala34464Pro) c.98788G>C (p.Ala32930Pro) c.98785G>C (p.Ala32929Pro) c.95827G>C (p.Ala31943Pro) c.77443G>C (p.Ala25815Pro) c.98938G>C (p.Ala32980Pro) c.98935G>C (p.Ala32979Pro) c.98368G>C (p.Ala32790Pro) c.95710G>C (p.Ala31904Pro) c.95629G>C (p.Ala31877Pro) c.77392G>C (p.Ala25798Pro) c.67246G>C (p.Ala22416Pro) | gnomAD v4 |
2 | g.178532118C>T | CA349411549 | TTN,TTN-AS1 | c.96793G>A (p.Ala32265Thr) c.77878G>A (p.Ala25960Thr) c.77677G>A (p.Ala25893Thr) c.77302G>A (p.Ala25768Thr) c.104497G>A (p.Ala34833Thr) c.99574G>A (p.Ala33192Thr) n.446+8482C>T n.220-3614C>T c.103594G>A (p.Ala34532Thr) c.77488G>A (p.Ala25830Thr) c.77347G>A (p.Ala25783Thr) c.103390G>A (p.Ala34464Thr) c.98788G>A (p.Ala32930Thr) c.98785G>A (p.Ala32929Thr) c.95827G>A (p.Ala31943Thr) c.77443G>A (p.Ala25815Thr) c.98938G>A (p.Ala32980Thr) c.98935G>A (p.Ala32979Thr) c.98368G>A (p.Ala32790Thr) c.95710G>A (p.Ala31904Thr) c.95629G>A (p.Ala31877Thr) c.77392G>A (p.Ala25798Thr) c.67246G>A (p.Ala22416Thr) | gnomAD v4 |
2 | g.178532119A>C | CA430235879 | TTN,TTN-AS1 | c.96792T>G (p.Ser32264=) c.77877T>G (p.Ser25959=) c.77676T>G (p.Ser25892=) c.77301T>G (p.Ser25767=) c.104496T>G (p.Ser34832=) c.99573T>G (p.Ser33191=) n.446+8483A>C n.220-3613A>C c.103593T>G (p.Ser34531=) c.77487T>G (p.Ser25829=) c.77346T>G (p.Ser25782=) c.103389T>G (p.Ser34463=) c.98787T>G (p.Ser32929=) c.98784T>G (p.Ser32928=) c.95826T>G (p.Ser31942=) c.77442T>G (p.Ser25814=) c.98937T>G (p.Ser32979=) c.98934T>G (p.Ser32978=) c.98367T>G (p.Ser32789=) c.95709T>G (p.Ser31903=) c.95628T>G (p.Ser31876=) c.77391T>G (p.Ser25797=) c.67245T>G (p.Ser22415=) | |
2 | g.178532119A>G | CA430235881 | TTN,TTN-AS1 | c.96792T>C (p.Ser32264=) c.77877T>C (p.Ser25959=) c.77676T>C (p.Ser25892=) c.77301T>C (p.Ser25767=) c.104496T>C (p.Ser34832=) c.99573T>C (p.Ser33191=) n.446+8483A>G n.220-3613A>G c.103593T>C (p.Ser34531=) c.77487T>C (p.Ser25829=) c.77346T>C (p.Ser25782=) c.103389T>C (p.Ser34463=) c.98787T>C (p.Ser32929=) c.98784T>C (p.Ser32928=) c.95826T>C (p.Ser31942=) c.77442T>C (p.Ser25814=) c.98937T>C (p.Ser32979=) c.98934T>C (p.Ser32978=) c.98367T>C (p.Ser32789=) c.95709T>C (p.Ser31903=) c.95628T>C (p.Ser31876=) c.77391T>C (p.Ser25797=) c.67245T>C (p.Ser22415=) | gnomAD v4 |
2 | g.178532119A>T | CA430235880 | TTN,TTN-AS1 | c.96792T>A (p.Ser32264=) c.77877T>A (p.Ser25959=) c.77676T>A (p.Ser25892=) c.77301T>A (p.Ser25767=) c.104496T>A (p.Ser34832=) c.99573T>A (p.Ser33191=) n.446+8483A>T n.220-3613A>T c.103593T>A (p.Ser34531=) c.77487T>A (p.Ser25829=) c.77346T>A (p.Ser25782=) c.103389T>A (p.Ser34463=) c.98787T>A (p.Ser32929=) c.98784T>A (p.Ser32928=) c.95826T>A (p.Ser31942=) c.77442T>A (p.Ser25814=) c.98937T>A (p.Ser32979=) c.98934T>A (p.Ser32978=) c.98367T>A (p.Ser32789=) c.95709T>A (p.Ser31903=) c.95628T>A (p.Ser31876=) c.77391T>A (p.Ser25797=) c.67245T>A (p.Ser22415=) | |
2 | g.178532120G>A | CA349411551 | TTN,TTN-AS1 | c.96791C>T (p.Ser32264Phe) c.77876C>T (p.Ser25959Phe) c.77675C>T (p.Ser25892Phe) c.77300C>T (p.Ser25767Phe) c.104495C>T (p.Ser34832Phe) c.99572C>T (p.Ser33191Phe) n.446+8484G>A n.220-3612G>A c.103592C>T (p.Ser34531Phe) c.77486C>T (p.Ser25829Phe) c.77345C>T (p.Ser25782Phe) c.103388C>T (p.Ser34463Phe) c.98786C>T (p.Ser32929Phe) c.98783C>T (p.Ser32928Phe) c.95825C>T (p.Ser31942Phe) c.77441C>T (p.Ser25814Phe) c.98936C>T (p.Ser32979Phe) c.98933C>T (p.Ser32978Phe) c.98366C>T (p.Ser32789Phe) c.95708C>T (p.Ser31903Phe) c.95627C>T (p.Ser31876Phe) c.77390C>T (p.Ser25797Phe) c.67244C>T (p.Ser22415Phe) | |
2 | g.178532120G>C | CA349411553 | TTN,TTN-AS1 | c.96791C>G (p.Ser32264Cys) c.77876C>G (p.Ser25959Cys) c.77675C>G (p.Ser25892Cys) c.77300C>G (p.Ser25767Cys) c.104495C>G (p.Ser34832Cys) c.99572C>G (p.Ser33191Cys) n.446+8484G>C n.220-3612G>C c.103592C>G (p.Ser34531Cys) c.77486C>G (p.Ser25829Cys) c.77345C>G (p.Ser25782Cys) c.103388C>G (p.Ser34463Cys) c.98786C>G (p.Ser32929Cys) c.98783C>G (p.Ser32928Cys) c.95825C>G (p.Ser31942Cys) c.77441C>G (p.Ser25814Cys) c.98936C>G (p.Ser32979Cys) c.98933C>G (p.Ser32978Cys) c.98366C>G (p.Ser32789Cys) c.95708C>G (p.Ser31903Cys) c.95627C>G (p.Ser31876Cys) c.77390C>G (p.Ser25797Cys) c.67244C>G (p.Ser22415Cys) | dbSNP gnomAD v4 |
2 | g.178532120G= | CA1310518088 | TTN,TTN-AS1 | c.96791C= (p.Ser32264=) c.77876C= (p.Ser25959=) c.77675C= (p.Ser25892=) c.77300C= (p.Ser25767=) c.104495C= (p.Ser34832=) c.99572C= (p.Ser33191=) n.446+8484G= n.220-3612G= c.103592C= (p.Ser34531=) c.77486C= (p.Ser25829=) c.77345C= (p.Ser25782=) c.103388C= (p.Ser34463=) c.98786C= (p.Ser32929=) c.98783C= (p.Ser32928=) c.95825C= (p.Ser31942=) c.77441C= (p.Ser25814=) c.98936C= (p.Ser32979=) c.98933C= (p.Ser32978=) c.98366C= (p.Ser32789=) c.95708C= (p.Ser31903=) c.95627C= (p.Ser31876=) c.77390C= (p.Ser25797=) c.67244C= (p.Ser22415=) | |
2 | g.178532120G>T | CA349411554 | TTN,TTN-AS1 | c.96791C>A (p.Ser32264Tyr) c.77876C>A (p.Ser25959Tyr) c.77675C>A (p.Ser25892Tyr) c.77300C>A (p.Ser25767Tyr) c.104495C>A (p.Ser34832Tyr) c.99572C>A (p.Ser33191Tyr) n.446+8484G>T n.220-3612G>T c.103592C>A (p.Ser34531Tyr) c.77486C>A (p.Ser25829Tyr) c.77345C>A (p.Ser25782Tyr) c.103388C>A (p.Ser34463Tyr) c.98786C>A (p.Ser32929Tyr) c.98783C>A (p.Ser32928Tyr) c.95825C>A (p.Ser31942Tyr) c.77441C>A (p.Ser25814Tyr) c.98936C>A (p.Ser32979Tyr) c.98933C>A (p.Ser32978Tyr) c.98366C>A (p.Ser32789Tyr) c.95708C>A (p.Ser31903Tyr) c.95627C>A (p.Ser31876Tyr) c.77390C>A (p.Ser25797Tyr) c.67244C>A (p.Ser22415Tyr) | |
2 | g.178532121A>C | CA349411557 | TTN,TTN-AS1 | c.96790T>G (p.Ser32264Ala) c.77875T>G (p.Ser25959Ala) c.77674T>G (p.Ser25892Ala) c.77299T>G (p.Ser25767Ala) c.104494T>G (p.Ser34832Ala) c.99571T>G (p.Ser33191Ala) n.446+8485A>C n.220-3611A>C c.103591T>G (p.Ser34531Ala) c.77485T>G (p.Ser25829Ala) c.77344T>G (p.Ser25782Ala) c.103387T>G (p.Ser34463Ala) c.98785T>G (p.Ser32929Ala) c.98782T>G (p.Ser32928Ala) c.95824T>G (p.Ser31942Ala) c.77440T>G (p.Ser25814Ala) c.98935T>G (p.Ser32979Ala) c.98932T>G (p.Ser32978Ala) c.98365T>G (p.Ser32789Ala) c.95707T>G (p.Ser31903Ala) c.95626T>G (p.Ser31876Ala) c.77389T>G (p.Ser25797Ala) c.67243T>G (p.Ser22415Ala) | |
2 | g.178532121A>G | CA349411559 | TTN,TTN-AS1 | c.96790T>C (p.Ser32264Pro) c.77875T>C (p.Ser25959Pro) c.77674T>C (p.Ser25892Pro) c.77299T>C (p.Ser25767Pro) c.104494T>C (p.Ser34832Pro) c.99571T>C (p.Ser33191Pro) n.446+8485A>G n.220-3611A>G c.103591T>C (p.Ser34531Pro) c.77485T>C (p.Ser25829Pro) c.77344T>C (p.Ser25782Pro) c.103387T>C (p.Ser34463Pro) c.98785T>C (p.Ser32929Pro) c.98782T>C (p.Ser32928Pro) c.95824T>C (p.Ser31942Pro) c.77440T>C (p.Ser25814Pro) c.98935T>C (p.Ser32979Pro) c.98932T>C (p.Ser32978Pro) c.98365T>C (p.Ser32789Pro) c.95707T>C (p.Ser31903Pro) c.95626T>C (p.Ser31876Pro) c.77389T>C (p.Ser25797Pro) c.67243T>C (p.Ser22415Pro) | |
2 | g.178532121A>T | CA349411558 | TTN,TTN-AS1 | c.96790T>A (p.Ser32264Thr) c.77875T>A (p.Ser25959Thr) c.77674T>A (p.Ser25892Thr) c.77299T>A (p.Ser25767Thr) c.104494T>A (p.Ser34832Thr) c.99571T>A (p.Ser33191Thr) n.446+8485A>T n.220-3611A>T c.103591T>A (p.Ser34531Thr) c.77485T>A (p.Ser25829Thr) c.77344T>A (p.Ser25782Thr) c.103387T>A (p.Ser34463Thr) c.98785T>A (p.Ser32929Thr) c.98782T>A (p.Ser32928Thr) c.95824T>A (p.Ser31942Thr) c.77440T>A (p.Ser25814Thr) c.98935T>A (p.Ser32979Thr) c.98932T>A (p.Ser32978Thr) c.98365T>A (p.Ser32789Thr) c.95707T>A (p.Ser31903Thr) c.95626T>A (p.Ser31876Thr) c.77389T>A (p.Ser25797Thr) c.67243T>A (p.Ser22415Thr) | |
2 | g.178532122T>A | CA430235882 | TTN,TTN-AS1 | c.96789A>T (p.Ser32263=) c.77874A>T (p.Ser25958=) c.77673A>T (p.Ser25891=) c.77298A>T (p.Ser25766=) c.104493A>T (p.Ser34831=) c.99570A>T (p.Ser33190=) n.446+8486T>A n.220-3610T>A c.103590A>T (p.Ser34530=) c.77484A>T (p.Ser25828=) c.77343A>T (p.Ser25781=) c.103386A>T (p.Ser34462=) c.98784A>T (p.Ser32928=) c.98781A>T (p.Ser32927=) c.95823A>T (p.Ser31941=) c.77439A>T (p.Ser25813=) c.98934A>T (p.Ser32978=) c.98931A>T (p.Ser32977=) c.98364A>T (p.Ser32788=) c.95706A>T (p.Ser31902=) c.95625A>T (p.Ser31875=) c.77388A>T (p.Ser25796=) c.67242A>T (p.Ser22414=) | gnomAD v4 |
2 | g.178532122T>C | CA430235883 | TTN,TTN-AS1 | c.96789A>G (p.Ser32263=) c.77874A>G (p.Ser25958=) c.77673A>G (p.Ser25891=) c.77298A>G (p.Ser25766=) c.104493A>G (p.Ser34831=) c.99570A>G (p.Ser33190=) n.446+8486T>C n.220-3610T>C c.103590A>G (p.Ser34530=) c.77484A>G (p.Ser25828=) c.77343A>G (p.Ser25781=) c.103386A>G (p.Ser34462=) c.98784A>G (p.Ser32928=) c.98781A>G (p.Ser32927=) c.95823A>G (p.Ser31941=) c.77439A>G (p.Ser25813=) c.98934A>G (p.Ser32978=) c.98931A>G (p.Ser32977=) c.98364A>G (p.Ser32788=) c.95706A>G (p.Ser31902=) c.95625A>G (p.Ser31875=) c.77388A>G (p.Ser25796=) c.67242A>G (p.Ser22414=) | ClinVar |
2 | g.178532122T>G | CA430235884 | TTN,TTN-AS1 | c.96789A>C (p.Ser32263=) c.77874A>C (p.Ser25958=) c.77673A>C (p.Ser25891=) c.77298A>C (p.Ser25766=) c.104493A>C (p.Ser34831=) c.99570A>C (p.Ser33190=) n.446+8486T>G n.220-3610T>G c.103590A>C (p.Ser34530=) c.77484A>C (p.Ser25828=) c.77343A>C (p.Ser25781=) c.103386A>C (p.Ser34462=) c.98784A>C (p.Ser32928=) c.98781A>C (p.Ser32927=) c.95823A>C (p.Ser31941=) c.77439A>C (p.Ser25813=) c.98934A>C (p.Ser32978=) c.98931A>C (p.Ser32977=) c.98364A>C (p.Ser32788=) c.95706A>C (p.Ser31902=) c.95625A>C (p.Ser31875=) c.77388A>C (p.Ser25796=) c.67242A>C (p.Ser22414=) | |
2 | g.178532123G>A | CA349411561 | TTN,TTN-AS1 | c.96788C>T (p.Ser32263Leu) c.77873C>T (p.Ser25958Leu) c.77672C>T (p.Ser25891Leu) c.77297C>T (p.Ser25766Leu) c.104492C>T (p.Ser34831Leu) c.99569C>T (p.Ser33190Leu) n.446+8487G>A n.220-3609G>A c.103589C>T (p.Ser34530Leu) c.77483C>T (p.Ser25828Leu) c.77342C>T (p.Ser25781Leu) c.103385C>T (p.Ser34462Leu) c.98783C>T (p.Ser32928Leu) c.98780C>T (p.Ser32927Leu) c.95822C>T (p.Ser31941Leu) c.77438C>T (p.Ser25813Leu) c.98933C>T (p.Ser32978Leu) c.98930C>T (p.Ser32977Leu) c.98363C>T (p.Ser32788Leu) c.95705C>T (p.Ser31902Leu) c.95624C>T (p.Ser31875Leu) c.77387C>T (p.Ser25796Leu) c.67241C>T (p.Ser22414Leu) | gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
2 | g.178532123G>C | CA349411563 | TTN,TTN-AS1 | c.96788C>G (p.Ser32263Ter) c.77873C>G (p.Ser25958Ter) c.77672C>G (p.Ser25891Ter) c.77297C>G (p.Ser25766Ter) c.104492C>G (p.Ser34831Ter) c.99569C>G (p.Ser33190Ter) n.446+8487G>C n.220-3609G>C c.103589C>G (p.Ser34530Ter) c.77483C>G (p.Ser25828Ter) c.77342C>G (p.Ser25781Ter) c.103385C>G (p.Ser34462Ter) c.98783C>G (p.Ser32928Ter) c.98780C>G (p.Ser32927Ter) c.95822C>G (p.Ser31941Ter) c.77438C>G (p.Ser25813Ter) c.98933C>G (p.Ser32978Ter) c.98930C>G (p.Ser32977Ter) c.98363C>G (p.Ser32788Ter) c.95705C>G (p.Ser31902Ter) c.95624C>G (p.Ser31875Ter) c.77387C>G (p.Ser25796Ter) c.67241C>G (p.Ser22414Ter) | |
2 | g.178532123G>T | CA349411564 | TTN,TTN-AS1 | c.96788C>A (p.Ser32263Ter) c.77873C>A (p.Ser25958Ter) c.77672C>A (p.Ser25891Ter) c.77297C>A (p.Ser25766Ter) c.104492C>A (p.Ser34831Ter) c.99569C>A (p.Ser33190Ter) n.446+8487G>T n.220-3609G>T c.103589C>A (p.Ser34530Ter) c.77483C>A (p.Ser25828Ter) c.77342C>A (p.Ser25781Ter) c.103385C>A (p.Ser34462Ter) c.98783C>A (p.Ser32928Ter) c.98780C>A (p.Ser32927Ter) c.95822C>A (p.Ser31941Ter) c.77438C>A (p.Ser25813Ter) c.98933C>A (p.Ser32978Ter) c.98930C>A (p.Ser32977Ter) c.98363C>A (p.Ser32788Ter) c.95705C>A (p.Ser31902Ter) c.95624C>A (p.Ser31875Ter) c.77387C>A (p.Ser25796Ter) c.67241C>A (p.Ser22414Ter) | |
2 | g.178532124A>C | CA349411566 | TTN,TTN-AS1 | c.96787T>G (p.Ser32263Ala) c.77872T>G (p.Ser25958Ala) c.77671T>G (p.Ser25891Ala) c.77296T>G (p.Ser25766Ala) c.104491T>G (p.Ser34831Ala) c.99568T>G (p.Ser33190Ala) n.446+8488A>C n.220-3608A>C c.103588T>G (p.Ser34530Ala) c.77482T>G (p.Ser25828Ala) c.77341T>G (p.Ser25781Ala) c.103384T>G (p.Ser34462Ala) c.98782T>G (p.Ser32928Ala) c.98779T>G (p.Ser32927Ala) c.95821T>G (p.Ser31941Ala) c.77437T>G (p.Ser25813Ala) c.98932T>G (p.Ser32978Ala) c.98929T>G (p.Ser32977Ala) c.98362T>G (p.Ser32788Ala) c.95704T>G (p.Ser31902Ala) c.95623T>G (p.Ser31875Ala) c.77386T>G (p.Ser25796Ala) c.67240T>G (p.Ser22414Ala) | |
2 | g.178532124A>G | CA349411567 | TTN,TTN-AS1 | c.96787T>C (p.Ser32263Pro) c.77872T>C (p.Ser25958Pro) c.77671T>C (p.Ser25891Pro) c.77296T>C (p.Ser25766Pro) c.104491T>C (p.Ser34831Pro) c.99568T>C (p.Ser33190Pro) n.446+8488A>G n.220-3608A>G c.103588T>C (p.Ser34530Pro) c.77482T>C (p.Ser25828Pro) c.77341T>C (p.Ser25781Pro) c.103384T>C (p.Ser34462Pro) c.98782T>C (p.Ser32928Pro) c.98779T>C (p.Ser32927Pro) c.95821T>C (p.Ser31941Pro) c.77437T>C (p.Ser25813Pro) c.98932T>C (p.Ser32978Pro) c.98929T>C (p.Ser32977Pro) c.98362T>C (p.Ser32788Pro) c.95704T>C (p.Ser31902Pro) c.95623T>C (p.Ser31875Pro) c.77386T>C (p.Ser25796Pro) c.67240T>C (p.Ser22414Pro) | |
2 | g.178532124A>T | CA349411568 | TTN,TTN-AS1 | c.96787T>A (p.Ser32263Thr) c.77872T>A (p.Ser25958Thr) c.77671T>A (p.Ser25891Thr) c.77296T>A (p.Ser25766Thr) c.104491T>A (p.Ser34831Thr) c.99568T>A (p.Ser33190Thr) n.446+8488A>T n.220-3608A>T c.103588T>A (p.Ser34530Thr) c.77482T>A (p.Ser25828Thr) c.77341T>A (p.Ser25781Thr) c.103384T>A (p.Ser34462Thr) c.98782T>A (p.Ser32928Thr) c.98779T>A (p.Ser32927Thr) c.95821T>A (p.Ser31941Thr) c.77437T>A (p.Ser25813Thr) c.98932T>A (p.Ser32978Thr) c.98929T>A (p.Ser32977Thr) c.98362T>A (p.Ser32788Thr) c.95704T>A (p.Ser31902Thr) c.95623T>A (p.Ser31875Thr) c.77386T>A (p.Ser25796Thr) c.67240T>A (p.Ser22414Thr) | |
2 | g.178532125G>A | CA60956182 | TTN,TTN-AS1 | c.96786C>T (p.Ser32262=) c.77871C>T (p.Ser25957=) c.77670C>T (p.Ser25890=) c.77295C>T (p.Ser25765=) c.104490C>T (p.Ser34830=) c.99567C>T (p.Ser33189=) n.446+8489G>A n.220-3607G>A c.103587C>T (p.Ser34529=) c.77481C>T (p.Ser25827=) c.77340C>T (p.Ser25780=) c.103383C>T (p.Ser34461=) c.98781C>T (p.Ser32927=) c.98778C>T (p.Ser32926=) c.95820C>T (p.Ser31940=) c.77436C>T (p.Ser25812=) c.98931C>T (p.Ser32977=) c.98928C>T (p.Ser32976=) c.98361C>T (p.Ser32787=) c.95703C>T (p.Ser31901=) c.95622C>T (p.Ser31874=) c.77385C>T (p.Ser25795=) c.67239C>T (p.Ser22413=) | dbSNP |
2 | g.178532125G>C | CA430235885 | TTN,TTN-AS1 | c.96786C>G (p.Ser32262=) c.77871C>G (p.Ser25957=) c.77670C>G (p.Ser25890=) c.77295C>G (p.Ser25765=) c.104490C>G (p.Ser34830=) c.99567C>G (p.Ser33189=) n.446+8489G>C n.220-3607G>C c.103587C>G (p.Ser34529=) c.77481C>G (p.Ser25827=) c.77340C>G (p.Ser25780=) c.103383C>G (p.Ser34461=) c.98781C>G (p.Ser32927=) c.98778C>G (p.Ser32926=) c.95820C>G (p.Ser31940=) c.77436C>G (p.Ser25812=) c.98931C>G (p.Ser32977=) c.98928C>G (p.Ser32976=) c.98361C>G (p.Ser32787=) c.95703C>G (p.Ser31901=) c.95622C>G (p.Ser31874=) c.77385C>G (p.Ser25795=) c.67239C>G (p.Ser22413=) | |
2 | g.178532125G= | CA1310518089 | TTN,TTN-AS1 | c.96786C= (p.Ser32262=) c.77871C= (p.Ser25957=) c.77670C= (p.Ser25890=) c.77295C= (p.Ser25765=) c.104490C= (p.Ser34830=) c.99567C= (p.Ser33189=) n.446+8489G= n.220-3607G= c.103587C= (p.Ser34529=) c.77481C= (p.Ser25827=) c.77340C= (p.Ser25780=) c.103383C= (p.Ser34461=) c.98781C= (p.Ser32927=) c.98778C= (p.Ser32926=) c.95820C= (p.Ser31940=) c.77436C= (p.Ser25812=) c.98931C= (p.Ser32977=) c.98928C= (p.Ser32976=) c.98361C= (p.Ser32787=) c.95703C= (p.Ser31901=) c.95622C= (p.Ser31874=) c.77385C= (p.Ser25795=) c.67239C= (p.Ser22413=) | |
2 | g.178532125G>T | CA430235886 | TTN,TTN-AS1 | c.96786C>A (p.Ser32262=) c.77871C>A (p.Ser25957=) c.77670C>A (p.Ser25890=) c.77295C>A (p.Ser25765=) c.104490C>A (p.Ser34830=) c.99567C>A (p.Ser33189=) n.446+8489G>T n.220-3607G>T c.103587C>A (p.Ser34529=) c.77481C>A (p.Ser25827=) c.77340C>A (p.Ser25780=) c.103383C>A (p.Ser34461=) c.98781C>A (p.Ser32927=) c.98778C>A (p.Ser32926=) c.95820C>A (p.Ser31940=) c.77436C>A (p.Ser25812=) c.98931C>A (p.Ser32977=) c.98928C>A (p.Ser32976=) c.98361C>A (p.Ser32787=) c.95703C>A (p.Ser31901=) c.95622C>A (p.Ser31874=) c.77385C>A (p.Ser25795=) c.67239C>A (p.Ser22413=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178532126G>A | CA349411572 | TTN,TTN-AS1 | c.96785C>T (p.Ser32262Phe) c.77870C>T (p.Ser25957Phe) c.77669C>T (p.Ser25890Phe) c.77294C>T (p.Ser25765Phe) c.104489C>T (p.Ser34830Phe) c.99566C>T (p.Ser33189Phe) n.446+8490G>A n.220-3606G>A c.103586C>T (p.Ser34529Phe) c.77480C>T (p.Ser25827Phe) c.77339C>T (p.Ser25780Phe) c.103382C>T (p.Ser34461Phe) c.98780C>T (p.Ser32927Phe) c.98777C>T (p.Ser32926Phe) c.95819C>T (p.Ser31940Phe) c.77435C>T (p.Ser25812Phe) c.98930C>T (p.Ser32977Phe) c.98927C>T (p.Ser32976Phe) c.98360C>T (p.Ser32787Phe) c.95702C>T (p.Ser31901Phe) c.95621C>T (p.Ser31874Phe) c.77384C>T (p.Ser25795Phe) c.67238C>T (p.Ser22413Phe) | |
2 | g.178532126G>C | CA349411574 | TTN,TTN-AS1 | c.96785C>G (p.Ser32262Cys) c.77870C>G (p.Ser25957Cys) c.77669C>G (p.Ser25890Cys) c.77294C>G (p.Ser25765Cys) c.104489C>G (p.Ser34830Cys) c.99566C>G (p.Ser33189Cys) n.446+8490G>C n.220-3606G>C c.103586C>G (p.Ser34529Cys) c.77480C>G (p.Ser25827Cys) c.77339C>G (p.Ser25780Cys) c.103382C>G (p.Ser34461Cys) c.98780C>G (p.Ser32927Cys) c.98777C>G (p.Ser32926Cys) c.95819C>G (p.Ser31940Cys) c.77435C>G (p.Ser25812Cys) c.98930C>G (p.Ser32977Cys) c.98927C>G (p.Ser32976Cys) c.98360C>G (p.Ser32787Cys) c.95702C>G (p.Ser31901Cys) c.95621C>G (p.Ser31874Cys) c.77384C>G (p.Ser25795Cys) c.67238C>G (p.Ser22413Cys) | dbSNP |
2 | g.178532126G= | CA1310518090 | TTN,TTN-AS1 | c.96785C= (p.Ser32262=) c.77870C= (p.Ser25957=) c.77669C= (p.Ser25890=) c.77294C= (p.Ser25765=) c.104489C= (p.Ser34830=) c.99566C= (p.Ser33189=) n.446+8490G= n.220-3606G= c.103586C= (p.Ser34529=) c.77480C= (p.Ser25827=) c.77339C= (p.Ser25780=) c.103382C= (p.Ser34461=) c.98780C= (p.Ser32927=) c.98777C= (p.Ser32926=) c.95819C= (p.Ser31940=) c.77435C= (p.Ser25812=) c.98930C= (p.Ser32977=) c.98927C= (p.Ser32976=) c.98360C= (p.Ser32787=) c.95702C= (p.Ser31901=) c.95621C= (p.Ser31874=) c.77384C= (p.Ser25795=) c.67238C= (p.Ser22413=) | |
2 | g.178532126G>T | CA349411576 | TTN,TTN-AS1 | c.96785C>A (p.Ser32262Tyr) c.77870C>A (p.Ser25957Tyr) c.77669C>A (p.Ser25890Tyr) c.77294C>A (p.Ser25765Tyr) c.104489C>A (p.Ser34830Tyr) c.99566C>A (p.Ser33189Tyr) n.446+8490G>T n.220-3606G>T c.103586C>A (p.Ser34529Tyr) c.77480C>A (p.Ser25827Tyr) c.77339C>A (p.Ser25780Tyr) c.103382C>A (p.Ser34461Tyr) c.98780C>A (p.Ser32927Tyr) c.98777C>A (p.Ser32926Tyr) c.95819C>A (p.Ser31940Tyr) c.77435C>A (p.Ser25812Tyr) c.98930C>A (p.Ser32977Tyr) c.98927C>A (p.Ser32976Tyr) c.98360C>A (p.Ser32787Tyr) c.95702C>A (p.Ser31901Tyr) c.95621C>A (p.Ser31874Tyr) c.77384C>A (p.Ser25795Tyr) c.67238C>A (p.Ser22413Tyr) | |
2 | g.178532127A= | CA1310518091 | TTN,TTN-AS1 | c.96784T= (p.Ser32262=) c.77869T= (p.Ser25957=) c.77668T= (p.Ser25890=) c.77293T= (p.Ser25765=) c.104488T= (p.Ser34830=) c.99565T= (p.Ser33189=) n.446+8491A= n.220-3605A= c.103585T= (p.Ser34529=) c.77479T= (p.Ser25827=) c.77338T= (p.Ser25780=) c.103381T= (p.Ser34461=) c.98779T= (p.Ser32927=) c.98776T= (p.Ser32926=) c.95818T= (p.Ser31940=) c.77434T= (p.Ser25812=) c.98929T= (p.Ser32977=) c.98926T= (p.Ser32976=) c.98359T= (p.Ser32787=) c.95701T= (p.Ser31901=) c.95620T= (p.Ser31874=) c.77383T= (p.Ser25795=) c.67237T= (p.Ser22413=) | |
2 | g.178532127A>C | CA349411581 | TTN,TTN-AS1 | c.96784T>G (p.Ser32262Ala) c.77869T>G (p.Ser25957Ala) c.77668T>G (p.Ser25890Ala) c.77293T>G (p.Ser25765Ala) c.104488T>G (p.Ser34830Ala) c.99565T>G (p.Ser33189Ala) n.446+8491A>C n.220-3605A>C c.103585T>G (p.Ser34529Ala) c.77479T>G (p.Ser25827Ala) c.77338T>G (p.Ser25780Ala) c.103381T>G (p.Ser34461Ala) c.98779T>G (p.Ser32927Ala) c.98776T>G (p.Ser32926Ala) c.95818T>G (p.Ser31940Ala) c.77434T>G (p.Ser25812Ala) c.98929T>G (p.Ser32977Ala) c.98926T>G (p.Ser32976Ala) c.98359T>G (p.Ser32787Ala) c.95701T>G (p.Ser31901Ala) c.95620T>G (p.Ser31874Ala) c.77383T>G (p.Ser25795Ala) c.67237T>G (p.Ser22413Ala) | |
2 | g.178532127A>G | CA349411579 | TTN,TTN-AS1 | c.96784T>C (p.Ser32262Pro) c.77869T>C (p.Ser25957Pro) c.77668T>C (p.Ser25890Pro) c.77293T>C (p.Ser25765Pro) c.104488T>C (p.Ser34830Pro) c.99565T>C (p.Ser33189Pro) n.446+8491A>G n.220-3605A>G c.103585T>C (p.Ser34529Pro) c.77479T>C (p.Ser25827Pro) c.77338T>C (p.Ser25780Pro) c.103381T>C (p.Ser34461Pro) c.98779T>C (p.Ser32927Pro) c.98776T>C (p.Ser32926Pro) c.95818T>C (p.Ser31940Pro) c.77434T>C (p.Ser25812Pro) c.98929T>C (p.Ser32977Pro) c.98926T>C (p.Ser32976Pro) c.98359T>C (p.Ser32787Pro) c.95701T>C (p.Ser31901Pro) c.95620T>C (p.Ser31874Pro) c.77383T>C (p.Ser25795Pro) c.67237T>C (p.Ser22413Pro) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.178532127A>T | CA349411577 | TTN,TTN-AS1 | c.96784T>A (p.Ser32262Thr) c.77869T>A (p.Ser25957Thr) c.77668T>A (p.Ser25890Thr) c.77293T>A (p.Ser25765Thr) c.104488T>A (p.Ser34830Thr) c.99565T>A (p.Ser33189Thr) n.446+8491A>T n.220-3605A>T c.103585T>A (p.Ser34529Thr) c.77479T>A (p.Ser25827Thr) c.77338T>A (p.Ser25780Thr) c.103381T>A (p.Ser34461Thr) c.98779T>A (p.Ser32927Thr) c.98776T>A (p.Ser32926Thr) c.95818T>A (p.Ser31940Thr) c.77434T>A (p.Ser25812Thr) c.98929T>A (p.Ser32977Thr) c.98926T>A (p.Ser32976Thr) c.98359T>A (p.Ser32787Thr) c.95701T>A (p.Ser31901Thr) c.95620T>A (p.Ser31874Thr) c.77383T>A (p.Ser25795Thr) c.67237T>A (p.Ser22413Thr) | gnomAD v4 |
2 | g.178532128T>A | CA430235887 | TTN,TTN-AS1 | c.96783A>T (p.Ser32261=) c.77868A>T (p.Ser25956=) c.77667A>T (p.Ser25889=) c.77292A>T (p.Ser25764=) c.104487A>T (p.Ser34829=) c.99564A>T (p.Ser33188=) n.446+8492T>A n.220-3604T>A c.103584A>T (p.Ser34528=) c.77478A>T (p.Ser25826=) c.77337A>T (p.Ser25779=) c.103380A>T (p.Ser34460=) c.98778A>T (p.Ser32926=) c.98775A>T (p.Ser32925=) c.95817A>T (p.Ser31939=) c.77433A>T (p.Ser25811=) c.98928A>T (p.Ser32976=) c.98925A>T (p.Ser32975=) c.98358A>T (p.Ser32786=) c.95700A>T (p.Ser31900=) c.95619A>T (p.Ser31873=) c.77382A>T (p.Ser25794=) c.67236A>T (p.Ser22412=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178532128T>C | CA430235888 | TTN,TTN-AS1 | c.96783A>G (p.Ser32261=) c.77868A>G (p.Ser25956=) c.77667A>G (p.Ser25889=) c.77292A>G (p.Ser25764=) c.104487A>G (p.Ser34829=) c.99564A>G (p.Ser33188=) n.446+8492T>C n.220-3604T>C c.103584A>G (p.Ser34528=) c.77478A>G (p.Ser25826=) c.77337A>G (p.Ser25779=) c.103380A>G (p.Ser34460=) c.98778A>G (p.Ser32926=) c.98775A>G (p.Ser32925=) c.95817A>G (p.Ser31939=) c.77433A>G (p.Ser25811=) c.98928A>G (p.Ser32976=) c.98925A>G (p.Ser32975=) c.98358A>G (p.Ser32786=) c.95700A>G (p.Ser31900=) c.95619A>G (p.Ser31873=) c.77382A>G (p.Ser25794=) c.67236A>G (p.Ser22412=) | |
2 | g.178532128T>G | CA1985417 | TTN,TTN-AS1 | c.96783A>C (p.Ser32261=) c.77868A>C (p.Ser25956=) c.77667A>C (p.Ser25889=) c.77292A>C (p.Ser25764=) c.104487A>C (p.Ser34829=) c.99564A>C (p.Ser33188=) n.446+8492T>G n.220-3604T>G c.103584A>C (p.Ser34528=) c.77478A>C (p.Ser25826=) c.77337A>C (p.Ser25779=) c.103380A>C (p.Ser34460=) c.98778A>C (p.Ser32926=) c.98775A>C (p.Ser32925=) c.95817A>C (p.Ser31939=) c.77433A>C (p.Ser25811=) c.98928A>C (p.Ser32976=) c.98925A>C (p.Ser32975=) c.98358A>C (p.Ser32786=) c.95700A>C (p.Ser31900=) c.95619A>C (p.Ser31873=) c.77382A>C (p.Ser25794=) c.67236A>C (p.Ser22412=) | dbSNP ExAC gnomAD v4 |
2 | g.178532128T= | CA1310518092 | TTN,TTN-AS1 | c.96783A= (p.Ser32261=) c.77868A= (p.Ser25956=) c.77667A= (p.Ser25889=) c.77292A= (p.Ser25764=) c.104487A= (p.Ser34829=) c.99564A= (p.Ser33188=) n.446+8492T= n.220-3604T= c.103584A= (p.Ser34528=) c.77478A= (p.Ser25826=) c.77337A= (p.Ser25779=) c.103380A= (p.Ser34460=) c.98778A= (p.Ser32926=) c.98775A= (p.Ser32925=) c.95817A= (p.Ser31939=) c.77433A= (p.Ser25811=) c.98928A= (p.Ser32976=) c.98925A= (p.Ser32975=) c.98358A= (p.Ser32786=) c.95700A= (p.Ser31900=) c.95619A= (p.Ser31873=) c.77382A= (p.Ser25794=) c.67236A= (p.Ser22412=) | |
2 | g.178532129_178532132dup | CA2740095955 | TTN,TTN-AS1 | c.96780_96783dup (p.Ser32262IlefsTer7) c.77865_77868dup (p.Ser25957IlefsTer7) c.77664_77667dup (p.Ser25890IlefsTer7) c.77289_77292dup (p.Ser25765IlefsTer7) c.104484_104487dup (p.Ser34830IlefsTer7) c.99561_99564dup (p.Ser33189IlefsTer7) n.446+8493_446+8496dup n.220-3603_220-3600dup c.103581_103584dup (p.Ser34529IlefsTer7) c.77475_77478dup (p.Ser25827IlefsTer7) c.77334_77337dup (p.Ser25780IlefsTer7) c.103377_103380dup (p.Ser34461IlefsTer7) c.98775_98778dup (p.Ser32927IlefsTer7) c.98772_98775dup (p.Ser32926IlefsTer7) c.95814_95817dup (p.Ser31940IlefsTer7) c.77430_77433dup (p.Ser25812IlefsTer7) c.98925_98928dup (p.Ser32977IlefsTer7) c.98922_98925dup (p.Ser32976IlefsTer7) c.98355_98358dup (p.Ser32787IlefsTer7) c.95697_95700dup (p.Ser31901IlefsTer7) c.95616_95619dup (p.Ser31874IlefsTer7) c.77379_77382dup (p.Ser25795IlefsTer7) c.67233_67236dup (p.Ser22413IlefsTer7) | ClinVar |
2 | g.178532129G>A | CA349411583 | TTN,TTN-AS1 | c.96782C>T (p.Ser32261Leu) c.77867C>T (p.Ser25956Leu) c.77666C>T (p.Ser25889Leu) c.77291C>T (p.Ser25764Leu) c.104486C>T (p.Ser34829Leu) c.99563C>T (p.Ser33188Leu) n.446+8493G>A n.220-3603G>A c.103583C>T (p.Ser34528Leu) c.77477C>T (p.Ser25826Leu) c.77336C>T (p.Ser25779Leu) c.103379C>T (p.Ser34460Leu) c.98777C>T (p.Ser32926Leu) c.98774C>T (p.Ser32925Leu) c.95816C>T (p.Ser31939Leu) c.77432C>T (p.Ser25811Leu) c.98927C>T (p.Ser32976Leu) c.98924C>T (p.Ser32975Leu) c.98357C>T (p.Ser32786Leu) c.95699C>T (p.Ser31900Leu) c.95618C>T (p.Ser31873Leu) c.77381C>T (p.Ser25794Leu) c.67235C>T (p.Ser22412Leu) | |
2 | g.178532129G>C | CA349411584 | TTN,TTN-AS1 | c.96782C>G (p.Ser32261Ter) c.77867C>G (p.Ser25956Ter) c.77666C>G (p.Ser25889Ter) c.77291C>G (p.Ser25764Ter) c.104486C>G (p.Ser34829Ter) c.99563C>G (p.Ser33188Ter) n.446+8493G>C n.220-3603G>C c.103583C>G (p.Ser34528Ter) c.77477C>G (p.Ser25826Ter) c.77336C>G (p.Ser25779Ter) c.103379C>G (p.Ser34460Ter) c.98777C>G (p.Ser32926Ter) c.98774C>G (p.Ser32925Ter) c.95816C>G (p.Ser31939Ter) c.77432C>G (p.Ser25811Ter) c.98927C>G (p.Ser32976Ter) c.98924C>G (p.Ser32975Ter) c.98357C>G (p.Ser32786Ter) c.95699C>G (p.Ser31900Ter) c.95618C>G (p.Ser31873Ter) c.77381C>G (p.Ser25794Ter) c.67235C>G (p.Ser22412Ter) | dbSNP gnomAD v4 |
2 | g.178532129G= | CA1310518093 | TTN,TTN-AS1 | c.96782C= (p.Ser32261=) c.77867C= (p.Ser25956=) c.77666C= (p.Ser25889=) c.77291C= (p.Ser25764=) c.104486C= (p.Ser34829=) c.99563C= (p.Ser33188=) n.446+8493G= n.220-3603G= c.103583C= (p.Ser34528=) c.77477C= (p.Ser25826=) c.77336C= (p.Ser25779=) c.103379C= (p.Ser34460=) c.98777C= (p.Ser32926=) c.98774C= (p.Ser32925=) c.95816C= (p.Ser31939=) c.77432C= (p.Ser25811=) c.98927C= (p.Ser32976=) c.98924C= (p.Ser32975=) c.98357C= (p.Ser32786=) c.95699C= (p.Ser31900=) c.95618C= (p.Ser31873=) c.77381C= (p.Ser25794=) c.67235C= (p.Ser22412=) | |
2 | g.178532129G>T | CA349411585 | TTN,TTN-AS1 | c.96782C>A (p.Ser32261Ter) c.77867C>A (p.Ser25956Ter) c.77666C>A (p.Ser25889Ter) c.77291C>A (p.Ser25764Ter) c.104486C>A (p.Ser34829Ter) c.99563C>A (p.Ser33188Ter) n.446+8493G>T n.220-3603G>T c.103583C>A (p.Ser34528Ter) c.77477C>A (p.Ser25826Ter) c.77336C>A (p.Ser25779Ter) c.103379C>A (p.Ser34460Ter) c.98777C>A (p.Ser32926Ter) c.98774C>A (p.Ser32925Ter) c.95816C>A (p.Ser31939Ter) c.77432C>A (p.Ser25811Ter) c.98927C>A (p.Ser32976Ter) c.98924C>A (p.Ser32975Ter) c.98357C>A (p.Ser32786Ter) c.95699C>A (p.Ser31900Ter) c.95618C>A (p.Ser31873Ter) c.77381C>A (p.Ser25794Ter) c.67235C>A (p.Ser22412Ter) | gnomAD v4 |
2 | g.178532130A>C | CA349411587 | TTN,TTN-AS1 | c.96781T>G (p.Ser32261Ala) c.77866T>G (p.Ser25956Ala) c.77665T>G (p.Ser25889Ala) c.77290T>G (p.Ser25764Ala) c.104485T>G (p.Ser34829Ala) c.99562T>G (p.Ser33188Ala) n.446+8494A>C n.220-3602A>C c.103582T>G (p.Ser34528Ala) c.77476T>G (p.Ser25826Ala) c.77335T>G (p.Ser25779Ala) c.103378T>G (p.Ser34460Ala) c.98776T>G (p.Ser32926Ala) c.98773T>G (p.Ser32925Ala) c.95815T>G (p.Ser31939Ala) c.77431T>G (p.Ser25811Ala) c.98926T>G (p.Ser32976Ala) c.98923T>G (p.Ser32975Ala) c.98356T>G (p.Ser32786Ala) c.95698T>G (p.Ser31900Ala) c.95617T>G (p.Ser31873Ala) c.77380T>G (p.Ser25794Ala) c.67234T>G (p.Ser22412Ala) | |
2 | g.178532130A>G | CA349411589 | TTN,TTN-AS1 | c.96781T>C (p.Ser32261Pro) c.77866T>C (p.Ser25956Pro) c.77665T>C (p.Ser25889Pro) c.77290T>C (p.Ser25764Pro) c.104485T>C (p.Ser34829Pro) c.99562T>C (p.Ser33188Pro) n.446+8494A>G n.220-3602A>G c.103582T>C (p.Ser34528Pro) c.77476T>C (p.Ser25826Pro) c.77335T>C (p.Ser25779Pro) c.103378T>C (p.Ser34460Pro) c.98776T>C (p.Ser32926Pro) c.98773T>C (p.Ser32925Pro) c.95815T>C (p.Ser31939Pro) c.77431T>C (p.Ser25811Pro) c.98926T>C (p.Ser32976Pro) c.98923T>C (p.Ser32975Pro) c.98356T>C (p.Ser32786Pro) c.95698T>C (p.Ser31900Pro) c.95617T>C (p.Ser31873Pro) c.77380T>C (p.Ser25794Pro) c.67234T>C (p.Ser22412Pro) | |
2 | g.178532130A>T | CA349411591 | TTN,TTN-AS1 | c.96781T>A (p.Ser32261Thr) c.77866T>A (p.Ser25956Thr) c.77665T>A (p.Ser25889Thr) c.77290T>A (p.Ser25764Thr) c.104485T>A (p.Ser34829Thr) c.99562T>A (p.Ser33188Thr) n.446+8494A>T n.220-3602A>T c.103582T>A (p.Ser34528Thr) c.77476T>A (p.Ser25826Thr) c.77335T>A (p.Ser25779Thr) c.103378T>A (p.Ser34460Thr) c.98776T>A (p.Ser32926Thr) c.98773T>A (p.Ser32925Thr) c.95815T>A (p.Ser31939Thr) c.77431T>A (p.Ser25811Thr) c.98926T>A (p.Ser32976Thr) c.98923T>A (p.Ser32975Thr) c.98356T>A (p.Ser32786Thr) c.95698T>A (p.Ser31900Thr) c.95617T>A (p.Ser31873Thr) c.77380T>A (p.Ser25794Thr) c.67234T>A (p.Ser22412Thr) | |
2 | g.178532131T>A | CA1985418 | TTN,TTN-AS1 | c.96780A>T (p.Glu32260Asp) c.77865A>T (p.Glu25955Asp) c.77664A>T (p.Glu25888Asp) c.77289A>T (p.Glu25763Asp) c.104484A>T (p.Glu34828Asp) c.99561A>T (p.Glu33187Asp) n.446+8495T>A n.220-3601T>A c.103581A>T (p.Glu34527Asp) c.77475A>T (p.Glu25825Asp) c.77334A>T (p.Glu25778Asp) c.103377A>T (p.Glu34459Asp) c.98775A>T (p.Glu32925Asp) c.98772A>T (p.Glu32924Asp) c.95814A>T (p.Glu31938Asp) c.77430A>T (p.Glu25810Asp) c.98925A>T (p.Glu32975Asp) c.98922A>T (p.Glu32974Asp) c.98355A>T (p.Glu32785Asp) c.95697A>T (p.Glu31899Asp) c.95616A>T (p.Glu31872Asp) c.77379A>T (p.Glu25793Asp) c.67233A>T (p.Glu22411Asp) | dbSNP ExAC gnomAD v2 |
2 | g.178532131T>C | CA430235889 | TTN,TTN-AS1 | c.96780A>G (p.Glu32260=) c.77865A>G (p.Glu25955=) c.77664A>G (p.Glu25888=) c.77289A>G (p.Glu25763=) c.104484A>G (p.Glu34828=) c.99561A>G (p.Glu33187=) n.446+8495T>C n.220-3601T>C c.103581A>G (p.Glu34527=) c.77475A>G (p.Glu25825=) c.77334A>G (p.Glu25778=) c.103377A>G (p.Glu34459=) c.98775A>G (p.Glu32925=) c.98772A>G (p.Glu32924=) c.95814A>G (p.Glu31938=) c.77430A>G (p.Glu25810=) c.98925A>G (p.Glu32975=) c.98922A>G (p.Glu32974=) c.98355A>G (p.Glu32785=) c.95697A>G (p.Glu31899=) c.95616A>G (p.Glu31872=) c.77379A>G (p.Glu25793=) c.67233A>G (p.Glu22411=) | |
2 | g.178532131T>G | CA349411593 | TTN,TTN-AS1 | c.96780A>C (p.Glu32260Asp) c.77865A>C (p.Glu25955Asp) c.77664A>C (p.Glu25888Asp) c.77289A>C (p.Glu25763Asp) c.104484A>C (p.Glu34828Asp) c.99561A>C (p.Glu33187Asp) n.446+8495T>G n.220-3601T>G c.103581A>C (p.Glu34527Asp) c.77475A>C (p.Glu25825Asp) c.77334A>C (p.Glu25778Asp) c.103377A>C (p.Glu34459Asp) c.98775A>C (p.Glu32925Asp) c.98772A>C (p.Glu32924Asp) c.95814A>C (p.Glu31938Asp) c.77430A>C (p.Glu25810Asp) c.98925A>C (p.Glu32975Asp) c.98922A>C (p.Glu32974Asp) c.98355A>C (p.Glu32785Asp) c.95697A>C (p.Glu31899Asp) c.95616A>C (p.Glu31872Asp) c.77379A>C (p.Glu25793Asp) c.67233A>C (p.Glu22411Asp) | |
2 | g.178532131T= | CA1310518094 | TTN,TTN-AS1 | c.96780A= (p.Glu32260=) c.77865A= (p.Glu25955=) c.77664A= (p.Glu25888=) c.77289A= (p.Glu25763=) c.104484A= (p.Glu34828=) c.99561A= (p.Glu33187=) n.446+8495T= n.220-3601T= c.103581A= (p.Glu34527=) c.77475A= (p.Glu25825=) c.77334A= (p.Glu25778=) c.103377A= (p.Glu34459=) c.98775A= (p.Glu32925=) c.98772A= (p.Glu32924=) c.95814A= (p.Glu31938=) c.77430A= (p.Glu25810=) c.98925A= (p.Glu32975=) c.98922A= (p.Glu32974=) c.98355A= (p.Glu32785=) c.95697A= (p.Glu31899=) c.95616A= (p.Glu31872=) c.77379A= (p.Glu25793=) c.67233A= (p.Glu22411=) | |
2 | g.178532132T>A | CA349411595 | TTN,TTN-AS1 | c.96779A>T (p.Glu32260Val) c.77864A>T (p.Glu25955Val) c.77663A>T (p.Glu25888Val) c.77288A>T (p.Glu25763Val) c.104483A>T (p.Glu34828Val) c.99560A>T (p.Glu33187Val) n.446+8496T>A n.220-3600T>A c.103580A>T (p.Glu34527Val) c.77474A>T (p.Glu25825Val) c.77333A>T (p.Glu25778Val) c.103376A>T (p.Glu34459Val) c.98774A>T (p.Glu32925Val) c.98771A>T (p.Glu32924Val) c.95813A>T (p.Glu31938Val) c.77429A>T (p.Glu25810Val) c.98924A>T (p.Glu32975Val) c.98921A>T (p.Glu32974Val) c.98354A>T (p.Glu32785Val) c.95696A>T (p.Glu31899Val) c.95615A>T (p.Glu31872Val) c.77378A>T (p.Glu25793Val) c.67232A>T (p.Glu22411Val) | |
2 | g.178532132T>C | CA60956191 | TTN,TTN-AS1 | c.96779A>G (p.Glu32260Gly) c.77864A>G (p.Glu25955Gly) c.77663A>G (p.Glu25888Gly) c.77288A>G (p.Glu25763Gly) c.104483A>G (p.Glu34828Gly) c.99560A>G (p.Glu33187Gly) n.446+8496T>C n.220-3600T>C c.103580A>G (p.Glu34527Gly) c.77474A>G (p.Glu25825Gly) c.77333A>G (p.Glu25778Gly) c.103376A>G (p.Glu34459Gly) c.98774A>G (p.Glu32925Gly) c.98771A>G (p.Glu32924Gly) c.95813A>G (p.Glu31938Gly) c.77429A>G (p.Glu25810Gly) c.98924A>G (p.Glu32975Gly) c.98921A>G (p.Glu32974Gly) c.98354A>G (p.Glu32785Gly) c.95696A>G (p.Glu31899Gly) c.95615A>G (p.Glu31872Gly) c.77378A>G (p.Glu25793Gly) c.67232A>G (p.Glu22411Gly) | ClinVar dbSNP gnomAD v4 |
2 | g.178532132T>G | CA349411597 | TTN,TTN-AS1 | c.96779A>C (p.Glu32260Ala) c.77864A>C (p.Glu25955Ala) c.77663A>C (p.Glu25888Ala) c.77288A>C (p.Glu25763Ala) c.104483A>C (p.Glu34828Ala) c.99560A>C (p.Glu33187Ala) n.446+8496T>G n.220-3600T>G c.103580A>C (p.Glu34527Ala) c.77474A>C (p.Glu25825Ala) c.77333A>C (p.Glu25778Ala) c.103376A>C (p.Glu34459Ala) c.98774A>C (p.Glu32925Ala) c.98771A>C (p.Glu32924Ala) c.95813A>C (p.Glu31938Ala) c.77429A>C (p.Glu25810Ala) c.98924A>C (p.Glu32975Ala) c.98921A>C (p.Glu32974Ala) c.98354A>C (p.Glu32785Ala) c.95696A>C (p.Glu31899Ala) c.95615A>C (p.Glu31872Ala) c.77378A>C (p.Glu25793Ala) c.67232A>C (p.Glu22411Ala) | |
2 | g.178532132T= | CA1310518095 | TTN,TTN-AS1 | c.96779A= (p.Glu32260=) c.77864A= (p.Glu25955=) c.77663A= (p.Glu25888=) c.77288A= (p.Glu25763=) c.104483A= (p.Glu34828=) c.99560A= (p.Glu33187=) n.446+8496T= n.220-3600T= c.103580A= (p.Glu34527=) c.77474A= (p.Glu25825=) c.77333A= (p.Glu25778=) c.103376A= (p.Glu34459=) c.98774A= (p.Glu32925=) c.98771A= (p.Glu32924=) c.95813A= (p.Glu31938=) c.77429A= (p.Glu25810=) c.98924A= (p.Glu32975=) c.98921A= (p.Glu32974=) c.98354A= (p.Glu32785=) c.95696A= (p.Glu31899=) c.95615A= (p.Glu31872=) c.77378A= (p.Glu25793=) c.67232A= (p.Glu22411=) | |
2 | g.178532133C>A | CA349411599 | TTN,TTN-AS1 | c.96778G>T (p.Glu32260Ter) c.77863G>T (p.Glu25955Ter) c.77662G>T (p.Glu25888Ter) c.77287G>T (p.Glu25763Ter) c.104482G>T (p.Glu34828Ter) c.99559G>T (p.Glu33187Ter) n.446+8497C>A n.220-3599C>A c.103579G>T (p.Glu34527Ter) c.77473G>T (p.Glu25825Ter) c.77332G>T (p.Glu25778Ter) c.103375G>T (p.Glu34459Ter) c.98773G>T (p.Glu32925Ter) c.98770G>T (p.Glu32924Ter) c.95812G>T (p.Glu31938Ter) c.77428G>T (p.Glu25810Ter) c.98923G>T (p.Glu32975Ter) c.98920G>T (p.Glu32974Ter) c.98353G>T (p.Glu32785Ter) c.95695G>T (p.Glu31899Ter) c.95614G>T (p.Glu31872Ter) c.77377G>T (p.Glu25793Ter) c.67231G>T (p.Glu22411Ter) | gnomAD v4 |
2 | g.178532133C>G | CA349411601 | TTN,TTN-AS1 | c.96778G>C (p.Glu32260Gln) c.77863G>C (p.Glu25955Gln) c.77662G>C (p.Glu25888Gln) c.77287G>C (p.Glu25763Gln) c.104482G>C (p.Glu34828Gln) c.99559G>C (p.Glu33187Gln) n.446+8497C>G n.220-3599C>G c.103579G>C (p.Glu34527Gln) c.77473G>C (p.Glu25825Gln) c.77332G>C (p.Glu25778Gln) c.103375G>C (p.Glu34459Gln) c.98773G>C (p.Glu32925Gln) c.98770G>C (p.Glu32924Gln) c.95812G>C (p.Glu31938Gln) c.77428G>C (p.Glu25810Gln) c.98923G>C (p.Glu32975Gln) c.98920G>C (p.Glu32974Gln) c.98353G>C (p.Glu32785Gln) c.95695G>C (p.Glu31899Gln) c.95614G>C (p.Glu31872Gln) c.77377G>C (p.Glu25793Gln) c.67231G>C (p.Glu22411Gln) | |
2 | g.178532133C>T | CA349411603 | TTN,TTN-AS1 | c.96778G>A (p.Glu32260Lys) c.77863G>A (p.Glu25955Lys) c.77662G>A (p.Glu25888Lys) c.77287G>A (p.Glu25763Lys) c.104482G>A (p.Glu34828Lys) c.99559G>A (p.Glu33187Lys) n.446+8497C>T n.220-3599C>T c.103579G>A (p.Glu34527Lys) c.77473G>A (p.Glu25825Lys) c.77332G>A (p.Glu25778Lys) c.103375G>A (p.Glu34459Lys) c.98773G>A (p.Glu32925Lys) c.98770G>A (p.Glu32924Lys) c.95812G>A (p.Glu31938Lys) c.77428G>A (p.Glu25810Lys) c.98923G>A (p.Glu32975Lys) c.98920G>A (p.Glu32974Lys) c.98353G>A (p.Glu32785Lys) c.95695G>A (p.Glu31899Lys) c.95614G>A (p.Glu31872Lys) c.77377G>A (p.Glu25793Lys) c.67231G>A (p.Glu22411Lys) | |
2 | g.178532134T>A | CA349411604 | TTN,TTN-AS1 | c.96777A>T (p.Arg32259Ser) c.77862A>T (p.Arg25954Ser) c.77661A>T (p.Arg25887Ser) c.77286A>T (p.Arg25762Ser) c.104481A>T (p.Arg34827Ser) c.99558A>T (p.Arg33186Ser) n.446+8498T>A n.220-3598T>A c.103578A>T (p.Arg34526Ser) c.77472A>T (p.Arg25824Ser) c.77331A>T (p.Arg25777Ser) c.103374A>T (p.Arg34458Ser) c.98772A>T (p.Arg32924Ser) c.98769A>T (p.Arg32923Ser) c.95811A>T (p.Arg31937Ser) c.77427A>T (p.Arg25809Ser) c.98922A>T (p.Arg32974Ser) c.98919A>T (p.Arg32973Ser) c.98352A>T (p.Arg32784Ser) c.95694A>T (p.Arg31898Ser) c.95613A>T (p.Arg31871Ser) c.77376A>T (p.Arg25792Ser) c.67230A>T (p.Arg22410Ser) | |
2 | g.178532134T>C | CA430235890 | TTN,TTN-AS1 | c.96777A>G (p.Arg32259=) c.77862A>G (p.Arg25954=) c.77661A>G (p.Arg25887=) c.77286A>G (p.Arg25762=) c.104481A>G (p.Arg34827=) c.99558A>G (p.Arg33186=) n.446+8498T>C n.220-3598T>C c.103578A>G (p.Arg34526=) c.77472A>G (p.Arg25824=) c.77331A>G (p.Arg25777=) c.103374A>G (p.Arg34458=) c.98772A>G (p.Arg32924=) c.98769A>G (p.Arg32923=) c.95811A>G (p.Arg31937=) c.77427A>G (p.Arg25809=) c.98922A>G (p.Arg32974=) c.98919A>G (p.Arg32973=) c.98352A>G (p.Arg32784=) c.95694A>G (p.Arg31898=) c.95613A>G (p.Arg31871=) c.77376A>G (p.Arg25792=) c.67230A>G (p.Arg22410=) | |
2 | g.178532134T>G | CA349411605 | TTN,TTN-AS1 | c.96777A>C (p.Arg32259Ser) c.77862A>C (p.Arg25954Ser) c.77661A>C (p.Arg25887Ser) c.77286A>C (p.Arg25762Ser) c.104481A>C (p.Arg34827Ser) c.99558A>C (p.Arg33186Ser) n.446+8498T>G n.220-3598T>G c.103578A>C (p.Arg34526Ser) c.77472A>C (p.Arg25824Ser) c.77331A>C (p.Arg25777Ser) c.103374A>C (p.Arg34458Ser) c.98772A>C (p.Arg32924Ser) c.98769A>C (p.Arg32923Ser) c.95811A>C (p.Arg31937Ser) c.77427A>C (p.Arg25809Ser) c.98922A>C (p.Arg32974Ser) c.98919A>C (p.Arg32973Ser) c.98352A>C (p.Arg32784Ser) c.95694A>C (p.Arg31898Ser) c.95613A>C (p.Arg31871Ser) c.77376A>C (p.Arg25792Ser) c.67230A>C (p.Arg22410Ser) | |
2 | g.178532135C>A | CA349411608 | TTN,TTN-AS1 | c.96776G>T (p.Arg32259Ile) c.77861G>T (p.Arg25954Ile) c.77660G>T (p.Arg25887Ile) c.77285G>T (p.Arg25762Ile) c.104480G>T (p.Arg34827Ile) c.99557G>T (p.Arg33186Ile) n.446+8499C>A n.220-3597C>A c.103577G>T (p.Arg34526Ile) c.77471G>T (p.Arg25824Ile) c.77330G>T (p.Arg25777Ile) c.103373G>T (p.Arg34458Ile) c.98771G>T (p.Arg32924Ile) c.98768G>T (p.Arg32923Ile) c.95810G>T (p.Arg31937Ile) c.77426G>T (p.Arg25809Ile) c.98921G>T (p.Arg32974Ile) c.98918G>T (p.Arg32973Ile) c.98351G>T (p.Arg32784Ile) c.95693G>T (p.Arg31898Ile) c.95612G>T (p.Arg31871Ile) c.77375G>T (p.Arg25792Ile) c.67229G>T (p.Arg22410Ile) | |
2 | g.178532135C>G | CA349411609 | TTN,TTN-AS1 | c.96776G>C (p.Arg32259Thr) c.77861G>C (p.Arg25954Thr) c.77660G>C (p.Arg25887Thr) c.77285G>C (p.Arg25762Thr) c.104480G>C (p.Arg34827Thr) c.99557G>C (p.Arg33186Thr) n.446+8499C>G n.220-3597C>G c.103577G>C (p.Arg34526Thr) c.77471G>C (p.Arg25824Thr) c.77330G>C (p.Arg25777Thr) c.103373G>C (p.Arg34458Thr) c.98771G>C (p.Arg32924Thr) c.98768G>C (p.Arg32923Thr) c.95810G>C (p.Arg31937Thr) c.77426G>C (p.Arg25809Thr) c.98921G>C (p.Arg32974Thr) c.98918G>C (p.Arg32973Thr) c.98351G>C (p.Arg32784Thr) c.95693G>C (p.Arg31898Thr) c.95612G>C (p.Arg31871Thr) c.77375G>C (p.Arg25792Thr) c.67229G>C (p.Arg22410Thr) | |
2 | g.178532135C>T | CA349411610 | TTN,TTN-AS1 | c.96776G>A (p.Arg32259Lys) c.77861G>A (p.Arg25954Lys) c.77660G>A (p.Arg25887Lys) c.77285G>A (p.Arg25762Lys) c.104480G>A (p.Arg34827Lys) c.99557G>A (p.Arg33186Lys) n.446+8499C>T n.220-3597C>T c.103577G>A (p.Arg34526Lys) c.77471G>A (p.Arg25824Lys) c.77330G>A (p.Arg25777Lys) c.103373G>A (p.Arg34458Lys) c.98771G>A (p.Arg32924Lys) c.98768G>A (p.Arg32923Lys) c.95810G>A (p.Arg31937Lys) c.77426G>A (p.Arg25809Lys) c.98921G>A (p.Arg32974Lys) c.98918G>A (p.Arg32973Lys) c.98351G>A (p.Arg32784Lys) c.95693G>A (p.Arg31898Lys) c.95612G>A (p.Arg31871Lys) c.77375G>A (p.Arg25792Lys) c.67229G>A (p.Arg22410Lys) | |
2 | g.178532136T>A | CA349411612 | TTN,TTN-AS1 | c.96775A>T (p.Arg32259Ter) c.77860A>T (p.Arg25954Ter) c.77659A>T (p.Arg25887Ter) c.77284A>T (p.Arg25762Ter) c.104479A>T (p.Arg34827Ter) c.99556A>T (p.Arg33186Ter) n.446+8500T>A n.220-3596T>A c.103576A>T (p.Arg34526Ter) c.77470A>T (p.Arg25824Ter) c.77329A>T (p.Arg25777Ter) c.103372A>T (p.Arg34458Ter) c.98770A>T (p.Arg32924Ter) c.98767A>T (p.Arg32923Ter) c.95809A>T (p.Arg31937Ter) c.77425A>T (p.Arg25809Ter) c.98920A>T (p.Arg32974Ter) c.98917A>T (p.Arg32973Ter) c.98350A>T (p.Arg32784Ter) c.95692A>T (p.Arg31898Ter) c.95611A>T (p.Arg31871Ter) c.77374A>T (p.Arg25792Ter) c.67228A>T (p.Arg22410Ter) | |
2 | g.178532136T>C | CA349411613 | TTN,TTN-AS1 | c.96775A>G (p.Arg32259Gly) c.77860A>G (p.Arg25954Gly) c.77659A>G (p.Arg25887Gly) c.77284A>G (p.Arg25762Gly) c.104479A>G (p.Arg34827Gly) c.99556A>G (p.Arg33186Gly) n.446+8500T>C n.220-3596T>C c.103576A>G (p.Arg34526Gly) c.77470A>G (p.Arg25824Gly) c.77329A>G (p.Arg25777Gly) c.103372A>G (p.Arg34458Gly) c.98770A>G (p.Arg32924Gly) c.98767A>G (p.Arg32923Gly) c.95809A>G (p.Arg31937Gly) c.77425A>G (p.Arg25809Gly) c.98920A>G (p.Arg32974Gly) c.98917A>G (p.Arg32973Gly) c.98350A>G (p.Arg32784Gly) c.95692A>G (p.Arg31898Gly) c.95611A>G (p.Arg31871Gly) c.77374A>G (p.Arg25792Gly) c.67228A>G (p.Arg22410Gly) | |
2 | g.178532136T>G | CA430235891 | TTN,TTN-AS1 | c.96775A>C (p.Arg32259=) c.77860A>C (p.Arg25954=) c.77659A>C (p.Arg25887=) c.77284A>C (p.Arg25762=) c.104479A>C (p.Arg34827=) c.99556A>C (p.Arg33186=) n.446+8500T>G n.220-3596T>G c.103576A>C (p.Arg34526=) c.77470A>C (p.Arg25824=) c.77329A>C (p.Arg25777=) c.103372A>C (p.Arg34458=) c.98770A>C (p.Arg32924=) c.98767A>C (p.Arg32923=) c.95809A>C (p.Arg31937=) c.77425A>C (p.Arg25809=) c.98920A>C (p.Arg32974=) c.98917A>C (p.Arg32973=) c.98350A>C (p.Arg32784=) c.95692A>C (p.Arg31898=) c.95611A>C (p.Arg31871=) c.77374A>C (p.Arg25792=) c.67228A>C (p.Arg22410=) | |
2 | g.178532137T>A | CA349411615 | TTN,TTN-AS1 | c.96774A>T (p.Gln32258His) c.77859A>T (p.Gln25953His) c.77658A>T (p.Gln25886His) c.77283A>T (p.Gln25761His) c.104478A>T (p.Gln34826His) c.99555A>T (p.Gln33185His) n.446+8501T>A n.220-3595T>A c.103575A>T (p.Gln34525His) c.77469A>T (p.Gln25823His) c.77328A>T (p.Gln25776His) c.103371A>T (p.Gln34457His) c.98769A>T (p.Gln32923His) c.98766A>T (p.Gln32922His) c.95808A>T (p.Gln31936His) c.77424A>T (p.Gln25808His) c.98919A>T (p.Gln32973His) c.98916A>T (p.Gln32972His) c.98349A>T (p.Gln32783His) c.95691A>T (p.Gln31897His) c.95610A>T (p.Gln31870His) c.77373A>T (p.Gln25791His) c.67227A>T (p.Gln22409His) | |
2 | g.178532137T>C | CA430235892 | TTN,TTN-AS1 | c.96774A>G (p.Gln32258=) c.77859A>G (p.Gln25953=) c.77658A>G (p.Gln25886=) c.77283A>G (p.Gln25761=) c.104478A>G (p.Gln34826=) c.99555A>G (p.Gln33185=) n.446+8501T>C n.220-3595T>C c.103575A>G (p.Gln34525=) c.77469A>G (p.Gln25823=) c.77328A>G (p.Gln25776=) c.103371A>G (p.Gln34457=) c.98769A>G (p.Gln32923=) c.98766A>G (p.Gln32922=) c.95808A>G (p.Gln31936=) c.77424A>G (p.Gln25808=) c.98919A>G (p.Gln32973=) c.98916A>G (p.Gln32972=) c.98349A>G (p.Gln32783=) c.95691A>G (p.Gln31897=) c.95610A>G (p.Gln31870=) c.77373A>G (p.Gln25791=) c.67227A>G (p.Gln22409=) | |
2 | g.178532137T>G | CA349411617 | TTN,TTN-AS1 | c.96774A>C (p.Gln32258His) c.77859A>C (p.Gln25953His) c.77658A>C (p.Gln25886His) c.77283A>C (p.Gln25761His) c.104478A>C (p.Gln34826His) c.99555A>C (p.Gln33185His) n.446+8501T>G n.220-3595T>G c.103575A>C (p.Gln34525His) c.77469A>C (p.Gln25823His) c.77328A>C (p.Gln25776His) c.103371A>C (p.Gln34457His) c.98769A>C (p.Gln32923His) c.98766A>C (p.Gln32922His) c.95808A>C (p.Gln31936His) c.77424A>C (p.Gln25808His) c.98919A>C (p.Gln32973His) c.98916A>C (p.Gln32972His) c.98349A>C (p.Gln32783His) c.95691A>C (p.Gln31897His) c.95610A>C (p.Gln31870His) c.77373A>C (p.Gln25791His) c.67227A>C (p.Gln22409His) | |
2 | g.178532138T>A | CA349411619 | TTN,TTN-AS1 | c.96773A>T (p.Gln32258Leu) c.77858A>T (p.Gln25953Leu) c.77657A>T (p.Gln25886Leu) c.77282A>T (p.Gln25761Leu) c.104477A>T (p.Gln34826Leu) c.99554A>T (p.Gln33185Leu) n.446+8502T>A n.220-3594T>A c.103574A>T (p.Gln34525Leu) c.77468A>T (p.Gln25823Leu) c.77327A>T (p.Gln25776Leu) c.103370A>T (p.Gln34457Leu) c.98768A>T (p.Gln32923Leu) c.98765A>T (p.Gln32922Leu) c.95807A>T (p.Gln31936Leu) c.77423A>T (p.Gln25808Leu) c.98918A>T (p.Gln32973Leu) c.98915A>T (p.Gln32972Leu) c.98348A>T (p.Gln32783Leu) c.95690A>T (p.Gln31897Leu) c.95609A>T (p.Gln31870Leu) c.77372A>T (p.Gln25791Leu) c.67226A>T (p.Gln22409Leu) | |
2 | g.178532138T>C | CA349411620 | TTN,TTN-AS1 | c.96773A>G (p.Gln32258Arg) c.77858A>G (p.Gln25953Arg) c.77657A>G (p.Gln25886Arg) c.77282A>G (p.Gln25761Arg) c.104477A>G (p.Gln34826Arg) c.99554A>G (p.Gln33185Arg) n.446+8502T>C n.220-3594T>C c.103574A>G (p.Gln34525Arg) c.77468A>G (p.Gln25823Arg) c.77327A>G (p.Gln25776Arg) c.103370A>G (p.Gln34457Arg) c.98768A>G (p.Gln32923Arg) c.98765A>G (p.Gln32922Arg) c.95807A>G (p.Gln31936Arg) c.77423A>G (p.Gln25808Arg) c.98918A>G (p.Gln32973Arg) c.98915A>G (p.Gln32972Arg) c.98348A>G (p.Gln32783Arg) c.95690A>G (p.Gln31897Arg) c.95609A>G (p.Gln31870Arg) c.77372A>G (p.Gln25791Arg) c.67226A>G (p.Gln22409Arg) | ClinVar dbSNP |
2 | g.178532138T>G | CA349411621 | TTN,TTN-AS1 | c.96773A>C (p.Gln32258Pro) c.77858A>C (p.Gln25953Pro) c.77657A>C (p.Gln25886Pro) c.77282A>C (p.Gln25761Pro) c.104477A>C (p.Gln34826Pro) c.99554A>C (p.Gln33185Pro) n.446+8502T>G n.220-3594T>G c.103574A>C (p.Gln34525Pro) c.77468A>C (p.Gln25823Pro) c.77327A>C (p.Gln25776Pro) c.103370A>C (p.Gln34457Pro) c.98768A>C (p.Gln32923Pro) c.98765A>C (p.Gln32922Pro) c.95807A>C (p.Gln31936Pro) c.77423A>C (p.Gln25808Pro) c.98918A>C (p.Gln32973Pro) c.98915A>C (p.Gln32972Pro) c.98348A>C (p.Gln32783Pro) c.95690A>C (p.Gln31897Pro) c.95609A>C (p.Gln31870Pro) c.77372A>C (p.Gln25791Pro) c.67226A>C (p.Gln22409Pro) | |
2 | g.178532139G>A | CA349411623 | TTN,TTN-AS1 | c.96772C>T (p.Gln32258Ter) c.77857C>T (p.Gln25953Ter) c.77656C>T (p.Gln25886Ter) c.77281C>T (p.Gln25761Ter) c.104476C>T (p.Gln34826Ter) c.99553C>T (p.Gln33185Ter) n.446+8503G>A n.220-3593G>A c.103573C>T (p.Gln34525Ter) c.77467C>T (p.Gln25823Ter) c.77326C>T (p.Gln25776Ter) c.103369C>T (p.Gln34457Ter) c.98767C>T (p.Gln32923Ter) c.98764C>T (p.Gln32922Ter) c.95806C>T (p.Gln31936Ter) c.77422C>T (p.Gln25808Ter) c.98917C>T (p.Gln32973Ter) c.98914C>T (p.Gln32972Ter) c.98347C>T (p.Gln32783Ter) c.95689C>T (p.Gln31897Ter) c.95608C>T (p.Gln31870Ter) c.77371C>T (p.Gln25791Ter) c.67225C>T (p.Gln22409Ter) | |
2 | g.178532139G>C | CA349411625 | TTN,TTN-AS1 | c.96772C>G (p.Gln32258Glu) c.77857C>G (p.Gln25953Glu) c.77656C>G (p.Gln25886Glu) c.77281C>G (p.Gln25761Glu) c.104476C>G (p.Gln34826Glu) c.99553C>G (p.Gln33185Glu) n.446+8503G>C n.220-3593G>C c.103573C>G (p.Gln34525Glu) c.77467C>G (p.Gln25823Glu) c.77326C>G (p.Gln25776Glu) c.103369C>G (p.Gln34457Glu) c.98767C>G (p.Gln32923Glu) c.98764C>G (p.Gln32922Glu) c.95806C>G (p.Gln31936Glu) c.77422C>G (p.Gln25808Glu) c.98917C>G (p.Gln32973Glu) c.98914C>G (p.Gln32972Glu) c.98347C>G (p.Gln32783Glu) c.95689C>G (p.Gln31897Glu) c.95608C>G (p.Gln31870Glu) c.77371C>G (p.Gln25791Glu) c.67225C>G (p.Gln22409Glu) | |
2 | g.178532139G= | CA1310518096 | TTN,TTN-AS1 | c.96772C= (p.Gln32258=) c.77857C= (p.Gln25953=) c.77656C= (p.Gln25886=) c.77281C= (p.Gln25761=) c.104476C= (p.Gln34826=) c.99553C= (p.Gln33185=) n.446+8503G= n.220-3593G= c.103573C= (p.Gln34525=) c.77467C= (p.Gln25823=) c.77326C= (p.Gln25776=) c.103369C= (p.Gln34457=) c.98767C= (p.Gln32923=) c.98764C= (p.Gln32922=) c.95806C= (p.Gln31936=) c.77422C= (p.Gln25808=) c.98917C= (p.Gln32973=) c.98914C= (p.Gln32972=) c.98347C= (p.Gln32783=) c.95689C= (p.Gln31897=) c.95608C= (p.Gln31870=) c.77371C= (p.Gln25791=) c.67225C= (p.Gln22409=) | |
2 | g.178532139G>T | CA60956200 | TTN,TTN-AS1 | c.96772C>A (p.Gln32258Lys) c.77857C>A (p.Gln25953Lys) c.77656C>A (p.Gln25886Lys) c.77281C>A (p.Gln25761Lys) c.104476C>A (p.Gln34826Lys) c.99553C>A (p.Gln33185Lys) n.446+8503G>T n.220-3593G>T c.103573C>A (p.Gln34525Lys) c.77467C>A (p.Gln25823Lys) c.77326C>A (p.Gln25776Lys) c.103369C>A (p.Gln34457Lys) c.98767C>A (p.Gln32923Lys) c.98764C>A (p.Gln32922Lys) c.95806C>A (p.Gln31936Lys) c.77422C>A (p.Gln25808Lys) c.98917C>A (p.Gln32973Lys) c.98914C>A (p.Gln32972Lys) c.98347C>A (p.Gln32783Lys) c.95689C>A (p.Gln31897Lys) c.95608C>A (p.Gln31870Lys) c.77371C>A (p.Gln25791Lys) c.67225C>A (p.Gln22409Lys) | dbSNP |
2 | g.178532140A= | CA1310518097 | TTN,TTN-AS1 | c.96771T= (p.Ala32257=) c.77856T= (p.Ala25952=) c.77655T= (p.Ala25885=) c.77280T= (p.Ala25760=) c.104475T= (p.Ala34825=) c.99552T= (p.Ala33184=) n.446+8504A= n.220-3592A= c.103572T= (p.Ala34524=) c.77466T= (p.Ala25822=) c.77325T= (p.Ala25775=) c.103368T= (p.Ala34456=) c.98766T= (p.Ala32922=) c.98763T= (p.Ala32921=) c.95805T= (p.Ala31935=) c.77421T= (p.Ala25807=) c.98916T= (p.Ala32972=) c.98913T= (p.Ala32971=) c.98346T= (p.Ala32782=) c.95688T= (p.Ala31896=) c.95607T= (p.Ala31869=) c.77370T= (p.Ala25790=) c.67224T= (p.Ala22408=) | |
2 | g.178532140A>C | CA430235894 | TTN,TTN-AS1 | c.96771T>G (p.Ala32257=) c.77856T>G (p.Ala25952=) c.77655T>G (p.Ala25885=) c.77280T>G (p.Ala25760=) c.104475T>G (p.Ala34825=) c.99552T>G (p.Ala33184=) n.446+8504A>C n.220-3592A>C c.103572T>G (p.Ala34524=) c.77466T>G (p.Ala25822=) c.77325T>G (p.Ala25775=) c.103368T>G (p.Ala34456=) c.98766T>G (p.Ala32922=) c.98763T>G (p.Ala32921=) c.95805T>G (p.Ala31935=) c.77421T>G (p.Ala25807=) c.98916T>G (p.Ala32972=) c.98913T>G (p.Ala32971=) c.98346T>G (p.Ala32782=) c.95688T>G (p.Ala31896=) c.95607T>G (p.Ala31869=) c.77370T>G (p.Ala25790=) c.67224T>G (p.Ala22408=) | |
2 | g.178532140A>G | CA430235893 | TTN,TTN-AS1 | c.96771T>C (p.Ala32257=) c.77856T>C (p.Ala25952=) c.77655T>C (p.Ala25885=) c.77280T>C (p.Ala25760=) c.104475T>C (p.Ala34825=) c.99552T>C (p.Ala33184=) n.446+8504A>G n.220-3592A>G c.103572T>C (p.Ala34524=) c.77466T>C (p.Ala25822=) c.77325T>C (p.Ala25775=) c.103368T>C (p.Ala34456=) c.98766T>C (p.Ala32922=) c.98763T>C (p.Ala32921=) c.95805T>C (p.Ala31935=) c.77421T>C (p.Ala25807=) c.98916T>C (p.Ala32972=) c.98913T>C (p.Ala32971=) c.98346T>C (p.Ala32782=) c.95688T>C (p.Ala31896=) c.95607T>C (p.Ala31869=) c.77370T>C (p.Ala25790=) c.67224T>C (p.Ala22408=) | |
2 | g.178532140A>T | CA60956203 | TTN,TTN-AS1 | c.96771T>A (p.Ala32257=) c.77856T>A (p.Ala25952=) c.77655T>A (p.Ala25885=) c.77280T>A (p.Ala25760=) c.104475T>A (p.Ala34825=) c.99552T>A (p.Ala33184=) n.446+8504A>T n.220-3592A>T c.103572T>A (p.Ala34524=) c.77466T>A (p.Ala25822=) c.77325T>A (p.Ala25775=) c.103368T>A (p.Ala34456=) c.98766T>A (p.Ala32922=) c.98763T>A (p.Ala32921=) c.95805T>A (p.Ala31935=) c.77421T>A (p.Ala25807=) c.98916T>A (p.Ala32972=) c.98913T>A (p.Ala32971=) c.98346T>A (p.Ala32782=) c.95688T>A (p.Ala31896=) c.95607T>A (p.Ala31869=) c.77370T>A (p.Ala25790=) c.67224T>A (p.Ala22408=) | dbSNP |
2 | g.178532141G>A | CA349411629 | TTN,TTN-AS1 | c.96770C>T (p.Ala32257Val) c.77855C>T (p.Ala25952Val) c.77654C>T (p.Ala25885Val) c.77279C>T (p.Ala25760Val) c.104474C>T (p.Ala34825Val) c.99551C>T (p.Ala33184Val) n.446+8505G>A n.220-3591G>A c.103571C>T (p.Ala34524Val) c.77465C>T (p.Ala25822Val) c.77324C>T (p.Ala25775Val) c.103367C>T (p.Ala34456Val) c.98765C>T (p.Ala32922Val) c.98762C>T (p.Ala32921Val) c.95804C>T (p.Ala31935Val) c.77420C>T (p.Ala25807Val) c.98915C>T (p.Ala32972Val) c.98912C>T (p.Ala32971Val) c.98345C>T (p.Ala32782Val) c.95687C>T (p.Ala31896Val) c.95606C>T (p.Ala31869Val) c.77369C>T (p.Ala25790Val) c.67223C>T (p.Ala22408Val) | |
2 | g.178532141G>C | CA349411628 | TTN,TTN-AS1 | c.96770C>G (p.Ala32257Gly) c.77855C>G (p.Ala25952Gly) c.77654C>G (p.Ala25885Gly) c.77279C>G (p.Ala25760Gly) c.104474C>G (p.Ala34825Gly) c.99551C>G (p.Ala33184Gly) n.446+8505G>C n.220-3591G>C c.103571C>G (p.Ala34524Gly) c.77465C>G (p.Ala25822Gly) c.77324C>G (p.Ala25775Gly) c.103367C>G (p.Ala34456Gly) c.98765C>G (p.Ala32922Gly) c.98762C>G (p.Ala32921Gly) c.95804C>G (p.Ala31935Gly) c.77420C>G (p.Ala25807Gly) c.98915C>G (p.Ala32972Gly) c.98912C>G (p.Ala32971Gly) c.98345C>G (p.Ala32782Gly) c.95687C>G (p.Ala31896Gly) c.95606C>G (p.Ala31869Gly) c.77369C>G (p.Ala25790Gly) c.67223C>G (p.Ala22408Gly) | ClinVar dbSNP gnomAD v4 |
2 | g.178532141G= | CA1310518098 | TTN,TTN-AS1 | c.96770C= (p.Ala32257=) c.77855C= (p.Ala25952=) c.77654C= (p.Ala25885=) c.77279C= (p.Ala25760=) c.104474C= (p.Ala34825=) c.99551C= (p.Ala33184=) n.446+8505G= n.220-3591G= c.103571C= (p.Ala34524=) c.77465C= (p.Ala25822=) c.77324C= (p.Ala25775=) c.103367C= (p.Ala34456=) c.98765C= (p.Ala32922=) c.98762C= (p.Ala32921=) c.95804C= (p.Ala31935=) c.77420C= (p.Ala25807=) c.98915C= (p.Ala32972=) c.98912C= (p.Ala32971=) c.98345C= (p.Ala32782=) c.95687C= (p.Ala31896=) c.95606C= (p.Ala31869=) c.77369C= (p.Ala25790=) c.67223C= (p.Ala22408=) | |
2 | g.178532141G>T | CA311181 | TTN,TTN-AS1 | c.96770C>A (p.Ala32257Asp) c.77855C>A (p.Ala25952Asp) c.77654C>A (p.Ala25885Asp) c.77279C>A (p.Ala25760Asp) c.104474C>A (p.Ala34825Asp) c.99551C>A (p.Ala33184Asp) n.446+8505G>T n.220-3591G>T c.103571C>A (p.Ala34524Asp) c.77465C>A (p.Ala25822Asp) c.77324C>A (p.Ala25775Asp) c.103367C>A (p.Ala34456Asp) c.98765C>A (p.Ala32922Asp) c.98762C>A (p.Ala32921Asp) c.95804C>A (p.Ala31935Asp) c.77420C>A (p.Ala25807Asp) c.98915C>A (p.Ala32972Asp) c.98912C>A (p.Ala32971Asp) c.98345C>A (p.Ala32782Asp) c.95687C>A (p.Ala31896Asp) c.95606C>A (p.Ala31869Asp) c.77369C>A (p.Ala25790Asp) c.67223C>A (p.Ala22408Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178532142C>A | CA349411631 | TTN,TTN-AS1 | c.96769G>T (p.Ala32257Ser) c.77854G>T (p.Ala25952Ser) c.77653G>T (p.Ala25885Ser) c.77278G>T (p.Ala25760Ser) c.104473G>T (p.Ala34825Ser) c.99550G>T (p.Ala33184Ser) n.446+8506C>A n.220-3590C>A c.103570G>T (p.Ala34524Ser) c.77464G>T (p.Ala25822Ser) c.77323G>T (p.Ala25775Ser) c.103366G>T (p.Ala34456Ser) c.98764G>T (p.Ala32922Ser) c.98761G>T (p.Ala32921Ser) c.95803G>T (p.Ala31935Ser) c.77419G>T (p.Ala25807Ser) c.98914G>T (p.Ala32972Ser) c.98911G>T (p.Ala32971Ser) c.98344G>T (p.Ala32782Ser) c.95686G>T (p.Ala31896Ser) c.95605G>T (p.Ala31869Ser) c.77368G>T (p.Ala25790Ser) c.67222G>T (p.Ala22408Ser) | |
2 | g.178532142C>G | CA349411633 | TTN,TTN-AS1 | c.96769G>C (p.Ala32257Pro) c.77854G>C (p.Ala25952Pro) c.77653G>C (p.Ala25885Pro) c.77278G>C (p.Ala25760Pro) c.104473G>C (p.Ala34825Pro) c.99550G>C (p.Ala33184Pro) n.446+8506C>G n.220-3590C>G c.103570G>C (p.Ala34524Pro) c.77464G>C (p.Ala25822Pro) c.77323G>C (p.Ala25775Pro) c.103366G>C (p.Ala34456Pro) c.98764G>C (p.Ala32922Pro) c.98761G>C (p.Ala32921Pro) c.95803G>C (p.Ala31935Pro) c.77419G>C (p.Ala25807Pro) c.98914G>C (p.Ala32972Pro) c.98911G>C (p.Ala32971Pro) c.98344G>C (p.Ala32782Pro) c.95686G>C (p.Ala31896Pro) c.95605G>C (p.Ala31869Pro) c.77368G>C (p.Ala25790Pro) c.67222G>C (p.Ala22408Pro) | |
2 | g.178532142C>T | CA349411634 | TTN,TTN-AS1 | c.96769G>A (p.Ala32257Thr) c.77854G>A (p.Ala25952Thr) c.77653G>A (p.Ala25885Thr) c.77278G>A (p.Ala25760Thr) c.104473G>A (p.Ala34825Thr) c.99550G>A (p.Ala33184Thr) n.446+8506C>T n.220-3590C>T c.103570G>A (p.Ala34524Thr) c.77464G>A (p.Ala25822Thr) c.77323G>A (p.Ala25775Thr) c.103366G>A (p.Ala34456Thr) c.98764G>A (p.Ala32922Thr) c.98761G>A (p.Ala32921Thr) c.95803G>A (p.Ala31935Thr) c.77419G>A (p.Ala25807Thr) c.98914G>A (p.Ala32972Thr) c.98911G>A (p.Ala32971Thr) c.98344G>A (p.Ala32782Thr) c.95686G>A (p.Ala31896Thr) c.95605G>A (p.Ala31869Thr) c.77368G>A (p.Ala25790Thr) c.67222G>A (p.Ala22408Thr) | |
2 | g.178532143A= | CA1310518099 | TTN,TTN-AS1 | c.96768T= (p.His32256=) c.77853T= (p.His25951=) c.77652T= (p.His25884=) c.77277T= (p.His25759=) c.104472T= (p.His34824=) c.99549T= (p.His33183=) n.446+8507A= n.220-3589A= c.103569T= (p.His34523=) c.77463T= (p.His25821=) c.77322T= (p.His25774=) c.103365T= (p.His34455=) c.98763T= (p.His32921=) c.98760T= (p.His32920=) c.95802T= (p.His31934=) c.77418T= (p.His25806=) c.98913T= (p.His32971=) c.98910T= (p.His32970=) c.98343T= (p.His32781=) c.95685T= (p.His31895=) c.95604T= (p.His31868=) c.77367T= (p.His25789=) c.67221T= (p.His22407=) | |
2 | g.178532143A>C | CA349411636 | TTN,TTN-AS1 | c.96768T>G (p.His32256Gln) c.77853T>G (p.His25951Gln) c.77652T>G (p.His25884Gln) c.77277T>G (p.His25759Gln) c.104472T>G (p.His34824Gln) c.99549T>G (p.His33183Gln) n.446+8507A>C n.220-3589A>C c.103569T>G (p.His34523Gln) c.77463T>G (p.His25821Gln) c.77322T>G (p.His25774Gln) c.103365T>G (p.His34455Gln) c.98763T>G (p.His32921Gln) c.98760T>G (p.His32920Gln) c.95802T>G (p.His31934Gln) c.77418T>G (p.His25806Gln) c.98913T>G (p.His32971Gln) c.98910T>G (p.His32970Gln) c.98343T>G (p.His32781Gln) c.95685T>G (p.His31895Gln) c.95604T>G (p.His31868Gln) c.77367T>G (p.His25789Gln) c.67221T>G (p.His22407Gln) | |
2 | g.178532143A>G | CA1985419 | TTN,TTN-AS1 | c.96768T>C (p.His32256=) c.77853T>C (p.His25951=) c.77652T>C (p.His25884=) c.77277T>C (p.His25759=) c.104472T>C (p.His34824=) c.99549T>C (p.His33183=) n.446+8507A>G n.220-3589A>G c.103569T>C (p.His34523=) c.77463T>C (p.His25821=) c.77322T>C (p.His25774=) c.103365T>C (p.His34455=) c.98763T>C (p.His32921=) c.98760T>C (p.His32920=) c.95802T>C (p.His31934=) c.77418T>C (p.His25806=) c.98913T>C (p.His32971=) c.98910T>C (p.His32970=) c.98343T>C (p.His32781=) c.95685T>C (p.His31895=) c.95604T>C (p.His31868=) c.77367T>C (p.His25789=) c.67221T>C (p.His22407=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178532143A>T | CA349411638 | TTN,TTN-AS1 | c.96768T>A (p.His32256Gln) c.77853T>A (p.His25951Gln) c.77652T>A (p.His25884Gln) c.77277T>A (p.His25759Gln) c.104472T>A (p.His34824Gln) c.99549T>A (p.His33183Gln) n.446+8507A>T n.220-3589A>T c.103569T>A (p.His34523Gln) c.77463T>A (p.His25821Gln) c.77322T>A (p.His25774Gln) c.103365T>A (p.His34455Gln) c.98763T>A (p.His32921Gln) c.98760T>A (p.His32920Gln) c.95802T>A (p.His31934Gln) c.77418T>A (p.His25806Gln) c.98913T>A (p.His32971Gln) c.98910T>A (p.His32970Gln) c.98343T>A (p.His32781Gln) c.95685T>A (p.His31895Gln) c.95604T>A (p.His31868Gln) c.77367T>A (p.His25789Gln) c.67221T>A (p.His22407Gln) | |
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 |