| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.178537626G>A | CA209318 | TTN,TTN-AS1 | c.91877C>T (p.Pro30626Leu) c.72962C>T (p.Pro24321Leu) c.72761C>T (p.Pro24254Leu) c.72386C>T (p.Pro24129Leu) c.99581C>T (p.Pro33194Leu) c.94658C>T (p.Pro31553Leu) n.446+13990G>A n.582G>A c.98678C>T (p.Pro32893Leu) c.72572C>T (p.Pro24191Leu) c.72431C>T (p.Pro24144Leu) c.98474C>T (p.Pro32825Leu) c.93872C>T (p.Pro31291Leu) c.93869C>T (p.Pro31290Leu) c.90911C>T (p.Pro30304Leu) c.72527C>T (p.Pro24176Leu) c.94022C>T (p.Pro31341Leu) c.94019C>T (p.Pro31340Leu) c.93452C>T (p.Pro31151Leu) c.90794C>T (p.Pro30265Leu) c.90713C>T (p.Pro30238Leu) c.72476C>T (p.Pro24159Leu) c.62330C>T (p.Pro20777Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 2 | g.178537626G>C | CA349427911 | TTN,TTN-AS1 | c.91877C>G (p.Pro30626Arg) c.72962C>G (p.Pro24321Arg) c.72761C>G (p.Pro24254Arg) c.72386C>G (p.Pro24129Arg) c.99581C>G (p.Pro33194Arg) c.94658C>G (p.Pro31553Arg) n.446+13990G>C n.582G>C c.98678C>G (p.Pro32893Arg) c.72572C>G (p.Pro24191Arg) c.72431C>G (p.Pro24144Arg) c.98474C>G (p.Pro32825Arg) c.93872C>G (p.Pro31291Arg) c.93869C>G (p.Pro31290Arg) c.90911C>G (p.Pro30304Arg) c.72527C>G (p.Pro24176Arg) c.94022C>G (p.Pro31341Arg) c.94019C>G (p.Pro31340Arg) c.93452C>G (p.Pro31151Arg) c.90794C>G (p.Pro30265Arg) c.90713C>G (p.Pro30238Arg) c.72476C>G (p.Pro24159Arg) c.62330C>G (p.Pro20777Arg) | |
| 2 | g.178537626G= | CA1310515562 | TTN,TTN-AS1 | c.91877C= (p.Pro30626=) c.72962C= (p.Pro24321=) c.72761C= (p.Pro24254=) c.72386C= (p.Pro24129=) c.99581C= (p.Pro33194=) c.94658C= (p.Pro31553=) n.446+13990G= n.582G= c.98678C= (p.Pro32893=) c.72572C= (p.Pro24191=) c.72431C= (p.Pro24144=) c.98474C= (p.Pro32825=) c.93872C= (p.Pro31291=) c.93869C= (p.Pro31290=) c.90911C= (p.Pro30304=) c.72527C= (p.Pro24176=) c.94022C= (p.Pro31341=) c.94019C= (p.Pro31340=) c.93452C= (p.Pro31151=) c.90794C= (p.Pro30265=) c.90713C= (p.Pro30238=) c.72476C= (p.Pro24159=) c.62330C= (p.Pro20777=) | |
| 2 | g.178537626G>T | CA349427912 | TTN,TTN-AS1 | c.91877C>A (p.Pro30626Gln) c.72962C>A (p.Pro24321Gln) c.72761C>A (p.Pro24254Gln) c.72386C>A (p.Pro24129Gln) c.99581C>A (p.Pro33194Gln) c.94658C>A (p.Pro31553Gln) n.446+13990G>T n.582G>T c.98678C>A (p.Pro32893Gln) c.72572C>A (p.Pro24191Gln) c.72431C>A (p.Pro24144Gln) c.98474C>A (p.Pro32825Gln) c.93872C>A (p.Pro31291Gln) c.93869C>A (p.Pro31290Gln) c.90911C>A (p.Pro30304Gln) c.72527C>A (p.Pro24176Gln) c.94022C>A (p.Pro31341Gln) c.94019C>A (p.Pro31340Gln) c.93452C>A (p.Pro31151Gln) c.90794C>A (p.Pro30265Gln) c.90713C>A (p.Pro30238Gln) c.72476C>A (p.Pro24159Gln) c.62330C>A (p.Pro20777Gln) | |
| 2 | g.178537627_178537629del | CA2662121293 | TTN,TTN-AS1 | c.91875_91877del (p.Pro30626del) c.72960_72962del (p.Pro24321del) c.72759_72761del (p.Pro24254del) c.72384_72386del (p.Pro24129del) c.99579_99581del (p.Pro33194del) c.94656_94658del (p.Pro31553del) n.446+13991_446+13993del n.583_585del c.98676_98678del (p.Pro32893del) c.72570_72572del (p.Pro24191del) c.72429_72431del (p.Pro24144del) c.98472_98474del (p.Pro32825del) c.93870_93872del (p.Pro31291del) c.93867_93869del (p.Pro31290del) c.90909_90911del (p.Pro30304del) c.72525_72527del (p.Pro24176del) c.94020_94022del (p.Pro31341del) c.94017_94019del (p.Pro31340del) c.93450_93452del (p.Pro31151del) c.90792_90794del (p.Pro30265del) c.90711_90713del (p.Pro30238del) c.72474_72476del (p.Pro24159del) c.62328_62330del (p.Pro20777del) | gnomAD v4 |
| 2 | g.178537627G>A | CA1986168 | TTN,TTN-AS1 | c.91876C>T (p.Pro30626Ser) c.72961C>T (p.Pro24321Ser) c.72760C>T (p.Pro24254Ser) c.72385C>T (p.Pro24129Ser) c.99580C>T (p.Pro33194Ser) c.94657C>T (p.Pro31553Ser) n.446+13991G>A n.583G>A c.98677C>T (p.Pro32893Ser) c.72571C>T (p.Pro24191Ser) c.72430C>T (p.Pro24144Ser) c.98473C>T (p.Pro32825Ser) c.93871C>T (p.Pro31291Ser) c.93868C>T (p.Pro31290Ser) c.90910C>T (p.Pro30304Ser) c.72526C>T (p.Pro24176Ser) c.94021C>T (p.Pro31341Ser) c.94018C>T (p.Pro31340Ser) c.93451C>T (p.Pro31151Ser) c.90793C>T (p.Pro30265Ser) c.90712C>T (p.Pro30238Ser) c.72475C>T (p.Pro24159Ser) c.62329C>T (p.Pro20777Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.178537627G>C | CA349427913 | TTN,TTN-AS1 | c.91876C>G (p.Pro30626Ala) c.72961C>G (p.Pro24321Ala) c.72760C>G (p.Pro24254Ala) c.72385C>G (p.Pro24129Ala) c.99580C>G (p.Pro33194Ala) c.94657C>G (p.Pro31553Ala) n.446+13991G>C n.583G>C c.98677C>G (p.Pro32893Ala) c.72571C>G (p.Pro24191Ala) c.72430C>G (p.Pro24144Ala) c.98473C>G (p.Pro32825Ala) c.93871C>G (p.Pro31291Ala) c.93868C>G (p.Pro31290Ala) c.90910C>G (p.Pro30304Ala) c.72526C>G (p.Pro24176Ala) c.94021C>G (p.Pro31341Ala) c.94018C>G (p.Pro31340Ala) c.93451C>G (p.Pro31151Ala) c.90793C>G (p.Pro30265Ala) c.90712C>G (p.Pro30238Ala) c.72475C>G (p.Pro24159Ala) c.62329C>G (p.Pro20777Ala) | |
| 2 | g.178537627G= | CA1310515565 | TTN,TTN-AS1 | c.91876C= (p.Pro30626=) c.72961C= (p.Pro24321=) c.72760C= (p.Pro24254=) c.72385C= (p.Pro24129=) c.99580C= (p.Pro33194=) c.94657C= (p.Pro31553=) n.446+13991G= n.583G= c.98677C= (p.Pro32893=) c.72571C= (p.Pro24191=) c.72430C= (p.Pro24144=) c.98473C= (p.Pro32825=) c.93871C= (p.Pro31291=) c.93868C= (p.Pro31290=) c.90910C= (p.Pro30304=) c.72526C= (p.Pro24176=) c.94021C= (p.Pro31341=) c.94018C= (p.Pro31340=) c.93451C= (p.Pro31151=) c.90793C= (p.Pro30265=) c.90712C= (p.Pro30238=) c.72475C= (p.Pro24159=) c.62329C= (p.Pro20777=) | |
| 2 | g.178537627G>T | CA349427914 | TTN,TTN-AS1 | c.91876C>A (p.Pro30626Thr) c.72961C>A (p.Pro24321Thr) c.72760C>A (p.Pro24254Thr) c.72385C>A (p.Pro24129Thr) c.99580C>A (p.Pro33194Thr) c.94657C>A (p.Pro31553Thr) n.446+13991G>T n.583G>T c.98677C>A (p.Pro32893Thr) c.72571C>A (p.Pro24191Thr) c.72430C>A (p.Pro24144Thr) c.98473C>A (p.Pro32825Thr) c.93871C>A (p.Pro31291Thr) c.93868C>A (p.Pro31290Thr) c.90910C>A (p.Pro30304Thr) c.72526C>A (p.Pro24176Thr) c.94021C>A (p.Pro31341Thr) c.94018C>A (p.Pro31340Thr) c.93451C>A (p.Pro31151Thr) c.90793C>A (p.Pro30265Thr) c.90712C>A (p.Pro30238Thr) c.72475C>A (p.Pro24159Thr) c.62329C>A (p.Pro20777Thr) | |
| 2 | g.178537628T>A | CA430238974 | TTN,TTN-AS1 | c.91875A>T (p.Thr30625=) c.72960A>T (p.Thr24320=) c.72759A>T (p.Thr24253=) c.72384A>T (p.Thr24128=) c.99579A>T (p.Thr33193=) c.94656A>T (p.Thr31552=) n.446+13992T>A n.584T>A c.98676A>T (p.Thr32892=) c.72570A>T (p.Thr24190=) c.72429A>T (p.Thr24143=) c.98472A>T (p.Thr32824=) c.93870A>T (p.Thr31290=) c.93867A>T (p.Thr31289=) c.90909A>T (p.Thr30303=) c.72525A>T (p.Thr24175=) c.94020A>T (p.Thr31340=) c.94017A>T (p.Thr31339=) c.93450A>T (p.Thr31150=) c.90792A>T (p.Thr30264=) c.90711A>T (p.Thr30237=) c.72474A>T (p.Thr24158=) c.62328A>T (p.Thr20776=) | |
| 2 | g.178537628T>C | CA430238975 | TTN,TTN-AS1 | c.91875A>G (p.Thr30625=) c.72960A>G (p.Thr24320=) c.72759A>G (p.Thr24253=) c.72384A>G (p.Thr24128=) c.99579A>G (p.Thr33193=) c.94656A>G (p.Thr31552=) n.446+13992T>C n.584T>C c.98676A>G (p.Thr32892=) c.72570A>G (p.Thr24190=) c.72429A>G (p.Thr24143=) c.98472A>G (p.Thr32824=) c.93870A>G (p.Thr31290=) c.93867A>G (p.Thr31289=) c.90909A>G (p.Thr30303=) c.72525A>G (p.Thr24175=) c.94020A>G (p.Thr31340=) c.94017A>G (p.Thr31339=) c.93450A>G (p.Thr31150=) c.90792A>G (p.Thr30264=) c.90711A>G (p.Thr30237=) c.72474A>G (p.Thr24158=) c.62328A>G (p.Thr20776=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.178537628T>G | CA430238976 | TTN,TTN-AS1 | c.91875A>C (p.Thr30625=) c.72960A>C (p.Thr24320=) c.72759A>C (p.Thr24253=) c.72384A>C (p.Thr24128=) c.99579A>C (p.Thr33193=) c.94656A>C (p.Thr31552=) n.446+13992T>G n.584T>G c.98676A>C (p.Thr32892=) c.72570A>C (p.Thr24190=) c.72429A>C (p.Thr24143=) c.98472A>C (p.Thr32824=) c.93870A>C (p.Thr31290=) c.93867A>C (p.Thr31289=) c.90909A>C (p.Thr30303=) c.72525A>C (p.Thr24175=) c.94020A>C (p.Thr31340=) c.94017A>C (p.Thr31339=) c.93450A>C (p.Thr31150=) c.90792A>C (p.Thr30264=) c.90711A>C (p.Thr30237=) c.72474A>C (p.Thr24158=) c.62328A>C (p.Thr20776=) | |
| 2 | g.178537628T= | CA1310515566 | TTN,TTN-AS1 | c.91875A= (p.Thr30625=) c.72960A= (p.Thr24320=) c.72759A= (p.Thr24253=) c.72384A= (p.Thr24128=) c.99579A= (p.Thr33193=) c.94656A= (p.Thr31552=) n.446+13992T= n.584T= c.98676A= (p.Thr32892=) c.72570A= (p.Thr24190=) c.72429A= (p.Thr24143=) c.98472A= (p.Thr32824=) c.93870A= (p.Thr31290=) c.93867A= (p.Thr31289=) c.90909A= (p.Thr30303=) c.72525A= (p.Thr24175=) c.94020A= (p.Thr31340=) c.94017A= (p.Thr31339=) c.93450A= (p.Thr31150=) c.90792A= (p.Thr30264=) c.90711A= (p.Thr30237=) c.72474A= (p.Thr24158=) c.62328A= (p.Thr20776=) | |
| 2 | g.178537629G>A | CA349427915 | TTN,TTN-AS1 | c.91874C>T (p.Thr30625Ile) c.72959C>T (p.Thr24320Ile) c.72758C>T (p.Thr24253Ile) c.72383C>T (p.Thr24128Ile) c.99578C>T (p.Thr33193Ile) c.94655C>T (p.Thr31552Ile) n.446+13993G>A n.585G>A c.98675C>T (p.Thr32892Ile) c.72569C>T (p.Thr24190Ile) c.72428C>T (p.Thr24143Ile) c.98471C>T (p.Thr32824Ile) c.93869C>T (p.Thr31290Ile) c.93866C>T (p.Thr31289Ile) c.90908C>T (p.Thr30303Ile) c.72524C>T (p.Thr24175Ile) c.94019C>T (p.Thr31340Ile) c.94016C>T (p.Thr31339Ile) c.93449C>T (p.Thr31150Ile) c.90791C>T (p.Thr30264Ile) c.90710C>T (p.Thr30237Ile) c.72473C>T (p.Thr24158Ile) c.62327C>T (p.Thr20776Ile) | gnomAD v4 |
| 2 | g.178537629G>C | CA349427916 | TTN,TTN-AS1 | c.91874C>G (p.Thr30625Arg) c.72959C>G (p.Thr24320Arg) c.72758C>G (p.Thr24253Arg) c.72383C>G (p.Thr24128Arg) c.99578C>G (p.Thr33193Arg) c.94655C>G (p.Thr31552Arg) n.446+13993G>C n.585G>C c.98675C>G (p.Thr32892Arg) c.72569C>G (p.Thr24190Arg) c.72428C>G (p.Thr24143Arg) c.98471C>G (p.Thr32824Arg) c.93869C>G (p.Thr31290Arg) c.93866C>G (p.Thr31289Arg) c.90908C>G (p.Thr30303Arg) c.72524C>G (p.Thr24175Arg) c.94019C>G (p.Thr31340Arg) c.94016C>G (p.Thr31339Arg) c.93449C>G (p.Thr31150Arg) c.90791C>G (p.Thr30264Arg) c.90710C>G (p.Thr30237Arg) c.72473C>G (p.Thr24158Arg) c.62327C>G (p.Thr20776Arg) | |
| 2 | g.178537629G>T | CA349427917 | TTN,TTN-AS1 | c.91874C>A (p.Thr30625Lys) c.72959C>A (p.Thr24320Lys) c.72758C>A (p.Thr24253Lys) c.72383C>A (p.Thr24128Lys) c.99578C>A (p.Thr33193Lys) c.94655C>A (p.Thr31552Lys) n.446+13993G>T n.585G>T c.98675C>A (p.Thr32892Lys) c.72569C>A (p.Thr24190Lys) c.72428C>A (p.Thr24143Lys) c.98471C>A (p.Thr32824Lys) c.93869C>A (p.Thr31290Lys) c.93866C>A (p.Thr31289Lys) c.90908C>A (p.Thr30303Lys) c.72524C>A (p.Thr24175Lys) c.94019C>A (p.Thr31340Lys) c.94016C>A (p.Thr31339Lys) c.93449C>A (p.Thr31150Lys) c.90791C>A (p.Thr30264Lys) c.90710C>A (p.Thr30237Lys) c.72473C>A (p.Thr24158Lys) c.62327C>A (p.Thr20776Lys) | gnomAD v4 |
| 2 | g.178537630T>A | CA349427918 | TTN,TTN-AS1 | c.91873A>T (p.Thr30625Ser) c.72958A>T (p.Thr24320Ser) c.72757A>T (p.Thr24253Ser) c.72382A>T (p.Thr24128Ser) c.99577A>T (p.Thr33193Ser) c.94654A>T (p.Thr31552Ser) n.446+13994T>A n.586T>A c.98674A>T (p.Thr32892Ser) c.72568A>T (p.Thr24190Ser) c.72427A>T (p.Thr24143Ser) c.98470A>T (p.Thr32824Ser) c.93868A>T (p.Thr31290Ser) c.93865A>T (p.Thr31289Ser) c.90907A>T (p.Thr30303Ser) c.72523A>T (p.Thr24175Ser) c.94018A>T (p.Thr31340Ser) c.94015A>T (p.Thr31339Ser) c.93448A>T (p.Thr31150Ser) c.90790A>T (p.Thr30264Ser) c.90709A>T (p.Thr30237Ser) c.72472A>T (p.Thr24158Ser) c.62326A>T (p.Thr20776Ser) | |
| 2 | g.178537630T>C | CA349427919 | TTN,TTN-AS1 | c.91873A>G (p.Thr30625Ala) c.72958A>G (p.Thr24320Ala) c.72757A>G (p.Thr24253Ala) c.72382A>G (p.Thr24128Ala) c.99577A>G (p.Thr33193Ala) c.94654A>G (p.Thr31552Ala) n.446+13994T>C n.586T>C c.98674A>G (p.Thr32892Ala) c.72568A>G (p.Thr24190Ala) c.72427A>G (p.Thr24143Ala) c.98470A>G (p.Thr32824Ala) c.93868A>G (p.Thr31290Ala) c.93865A>G (p.Thr31289Ala) c.90907A>G (p.Thr30303Ala) c.72523A>G (p.Thr24175Ala) c.94018A>G (p.Thr31340Ala) c.94015A>G (p.Thr31339Ala) c.93448A>G (p.Thr31150Ala) c.90790A>G (p.Thr30264Ala) c.90709A>G (p.Thr30237Ala) c.72472A>G (p.Thr24158Ala) c.62326A>G (p.Thr20776Ala) | |
| 2 | g.178537630T>G | CA349427920 | TTN,TTN-AS1 | c.91873A>C (p.Thr30625Pro) c.72958A>C (p.Thr24320Pro) c.72757A>C (p.Thr24253Pro) c.72382A>C (p.Thr24128Pro) c.99577A>C (p.Thr33193Pro) c.94654A>C (p.Thr31552Pro) n.446+13994T>G n.586T>G c.98674A>C (p.Thr32892Pro) c.72568A>C (p.Thr24190Pro) c.72427A>C (p.Thr24143Pro) c.98470A>C (p.Thr32824Pro) c.93868A>C (p.Thr31290Pro) c.93865A>C (p.Thr31289Pro) c.90907A>C (p.Thr30303Pro) c.72523A>C (p.Thr24175Pro) c.94018A>C (p.Thr31340Pro) c.94015A>C (p.Thr31339Pro) c.93448A>C (p.Thr31150Pro) c.90790A>C (p.Thr30264Pro) c.90709A>C (p.Thr30237Pro) c.72472A>C (p.Thr24158Pro) c.62326A>C (p.Thr20776Pro) | |
| 2 | g.178537631T>A | CA430238986 | TTN,TTN-AS1 | c.91872A>T (p.Ala30624=) c.72957A>T (p.Ala24319=) c.72756A>T (p.Ala24252=) c.72381A>T (p.Ala24127=) c.99576A>T (p.Ala33192=) c.94653A>T (p.Ala31551=) n.446+13995T>A n.587T>A c.98673A>T (p.Ala32891=) c.72567A>T (p.Ala24189=) c.72426A>T (p.Ala24142=) c.98469A>T (p.Ala32823=) c.93867A>T (p.Ala31289=) c.93864A>T (p.Ala31288=) c.90906A>T (p.Ala30302=) c.72522A>T (p.Ala24174=) c.94017A>T (p.Ala31339=) c.94014A>T (p.Ala31338=) c.93447A>T (p.Ala31149=) c.90789A>T (p.Ala30263=) c.90708A>T (p.Ala30236=) c.72471A>T (p.Ala24157=) c.62325A>T (p.Ala20775=) | |
| 2 | g.178537631T>C | CA430238984 | TTN,TTN-AS1 | c.91872A>G (p.Ala30624=) c.72957A>G (p.Ala24319=) c.72756A>G (p.Ala24252=) c.72381A>G (p.Ala24127=) c.99576A>G (p.Ala33192=) c.94653A>G (p.Ala31551=) n.446+13995T>C n.587T>C c.98673A>G (p.Ala32891=) c.72567A>G (p.Ala24189=) c.72426A>G (p.Ala24142=) c.98469A>G (p.Ala32823=) c.93867A>G (p.Ala31289=) c.93864A>G (p.Ala31288=) c.90906A>G (p.Ala30302=) c.72522A>G (p.Ala24174=) c.94017A>G (p.Ala31339=) c.94014A>G (p.Ala31338=) c.93447A>G (p.Ala31149=) c.90789A>G (p.Ala30263=) c.90708A>G (p.Ala30236=) c.72471A>G (p.Ala24157=) c.62325A>G (p.Ala20775=) | |
| 2 | g.178537631T>G | CA430238983 | TTN,TTN-AS1 | c.91872A>C (p.Ala30624=) c.72957A>C (p.Ala24319=) c.72756A>C (p.Ala24252=) c.72381A>C (p.Ala24127=) c.99576A>C (p.Ala33192=) c.94653A>C (p.Ala31551=) n.446+13995T>G n.587T>G c.98673A>C (p.Ala32891=) c.72567A>C (p.Ala24189=) c.72426A>C (p.Ala24142=) c.98469A>C (p.Ala32823=) c.93867A>C (p.Ala31289=) c.93864A>C (p.Ala31288=) c.90906A>C (p.Ala30302=) c.72522A>C (p.Ala24174=) c.94017A>C (p.Ala31339=) c.94014A>C (p.Ala31338=) c.93447A>C (p.Ala31149=) c.90789A>C (p.Ala30263=) c.90708A>C (p.Ala30236=) c.72471A>C (p.Ala24157=) c.62325A>C (p.Ala20775=) | |
| 2 | g.178537632G>A | CA349427921 | TTN,TTN-AS1 | c.91871C>T (p.Ala30624Val) c.72956C>T (p.Ala24319Val) c.72755C>T (p.Ala24252Val) c.72380C>T (p.Ala24127Val) c.99575C>T (p.Ala33192Val) c.94652C>T (p.Ala31551Val) n.446+13996G>A n.588G>A c.98672C>T (p.Ala32891Val) c.72566C>T (p.Ala24189Val) c.72425C>T (p.Ala24142Val) c.98468C>T (p.Ala32823Val) c.93866C>T (p.Ala31289Val) c.93863C>T (p.Ala31288Val) c.90905C>T (p.Ala30302Val) c.72521C>T (p.Ala24174Val) c.94016C>T (p.Ala31339Val) c.94013C>T (p.Ala31338Val) c.93446C>T (p.Ala31149Val) c.90788C>T (p.Ala30263Val) c.90707C>T (p.Ala30236Val) c.72470C>T (p.Ala24157Val) c.62324C>T (p.Ala20775Val) | |
| 2 | g.178537632G>C | CA349427923 | TTN,TTN-AS1 | c.91871C>G (p.Ala30624Gly) c.72956C>G (p.Ala24319Gly) c.72755C>G (p.Ala24252Gly) c.72380C>G (p.Ala24127Gly) c.99575C>G (p.Ala33192Gly) c.94652C>G (p.Ala31551Gly) n.446+13996G>C n.588G>C c.98672C>G (p.Ala32891Gly) c.72566C>G (p.Ala24189Gly) c.72425C>G (p.Ala24142Gly) c.98468C>G (p.Ala32823Gly) c.93866C>G (p.Ala31289Gly) c.93863C>G (p.Ala31288Gly) c.90905C>G (p.Ala30302Gly) c.72521C>G (p.Ala24174Gly) c.94016C>G (p.Ala31339Gly) c.94013C>G (p.Ala31338Gly) c.93446C>G (p.Ala31149Gly) c.90788C>G (p.Ala30263Gly) c.90707C>G (p.Ala30236Gly) c.72470C>G (p.Ala24157Gly) c.62324C>G (p.Ala20775Gly) | |
| 2 | g.178537632G>T | CA349427922 | TTN,TTN-AS1 | c.91871C>A (p.Ala30624Glu) c.72956C>A (p.Ala24319Glu) c.72755C>A (p.Ala24252Glu) c.72380C>A (p.Ala24127Glu) c.99575C>A (p.Ala33192Glu) c.94652C>A (p.Ala31551Glu) n.446+13996G>T n.588G>T c.98672C>A (p.Ala32891Glu) c.72566C>A (p.Ala24189Glu) c.72425C>A (p.Ala24142Glu) c.98468C>A (p.Ala32823Glu) c.93866C>A (p.Ala31289Glu) c.93863C>A (p.Ala31288Glu) c.90905C>A (p.Ala30302Glu) c.72521C>A (p.Ala24174Glu) c.94016C>A (p.Ala31339Glu) c.94013C>A (p.Ala31338Glu) c.93446C>A (p.Ala31149Glu) c.90788C>A (p.Ala30263Glu) c.90707C>A (p.Ala30236Glu) c.72470C>A (p.Ala24157Glu) c.62324C>A (p.Ala20775Glu) | |
| 2 | g.178537633C>A | CA349427924 | TTN,TTN-AS1 | c.91870G>T (p.Ala30624Ser) c.72955G>T (p.Ala24319Ser) c.72754G>T (p.Ala24252Ser) c.72379G>T (p.Ala24127Ser) c.99574G>T (p.Ala33192Ser) c.94651G>T (p.Ala31551Ser) n.446+13997C>A n.589C>A c.98671G>T (p.Ala32891Ser) c.72565G>T (p.Ala24189Ser) c.72424G>T (p.Ala24142Ser) c.98467G>T (p.Ala32823Ser) c.93865G>T (p.Ala31289Ser) c.93862G>T (p.Ala31288Ser) c.90904G>T (p.Ala30302Ser) c.72520G>T (p.Ala24174Ser) c.94015G>T (p.Ala31339Ser) c.94012G>T (p.Ala31338Ser) c.93445G>T (p.Ala31149Ser) c.90787G>T (p.Ala30263Ser) c.90706G>T (p.Ala30236Ser) c.72469G>T (p.Ala24157Ser) c.62323G>T (p.Ala20775Ser) | |
| 2 | g.178537633C= | CA1310515567 | TTN,TTN-AS1 | c.91870G= (p.Ala30624=) c.72955G= (p.Ala24319=) c.72754G= (p.Ala24252=) c.72379G= (p.Ala24127=) c.99574G= (p.Ala33192=) c.94651G= (p.Ala31551=) n.446+13997C= n.589C= c.98671G= (p.Ala32891=) c.72565G= (p.Ala24189=) c.72424G= (p.Ala24142=) c.98467G= (p.Ala32823=) c.93865G= (p.Ala31289=) c.93862G= (p.Ala31288=) c.90904G= (p.Ala30302=) c.72520G= (p.Ala24174=) c.94015G= (p.Ala31339=) c.94012G= (p.Ala31338=) c.93445G= (p.Ala31149=) c.90787G= (p.Ala30263=) c.90706G= (p.Ala30236=) c.72469G= (p.Ala24157=) c.62323G= (p.Ala20775=) | |
| 2 | g.178537633C>G | CA349427925 | TTN,TTN-AS1 | c.91870G>C (p.Ala30624Pro) c.72955G>C (p.Ala24319Pro) c.72754G>C (p.Ala24252Pro) c.72379G>C (p.Ala24127Pro) c.99574G>C (p.Ala33192Pro) c.94651G>C (p.Ala31551Pro) n.446+13997C>G n.589C>G c.98671G>C (p.Ala32891Pro) c.72565G>C (p.Ala24189Pro) c.72424G>C (p.Ala24142Pro) c.98467G>C (p.Ala32823Pro) c.93865G>C (p.Ala31289Pro) c.93862G>C (p.Ala31288Pro) c.90904G>C (p.Ala30302Pro) c.72520G>C (p.Ala24174Pro) c.94015G>C (p.Ala31339Pro) c.94012G>C (p.Ala31338Pro) c.93445G>C (p.Ala31149Pro) c.90787G>C (p.Ala30263Pro) c.90706G>C (p.Ala30236Pro) c.72469G>C (p.Ala24157Pro) c.62323G>C (p.Ala20775Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.178537633C>T | CA349427926 | TTN,TTN-AS1 | c.91870G>A (p.Ala30624Thr) c.72955G>A (p.Ala24319Thr) c.72754G>A (p.Ala24252Thr) c.72379G>A (p.Ala24127Thr) c.99574G>A (p.Ala33192Thr) c.94651G>A (p.Ala31551Thr) n.446+13997C>T n.589C>T c.98671G>A (p.Ala32891Thr) c.72565G>A (p.Ala24189Thr) c.72424G>A (p.Ala24142Thr) c.98467G>A (p.Ala32823Thr) c.93865G>A (p.Ala31289Thr) c.93862G>A (p.Ala31288Thr) c.90904G>A (p.Ala30302Thr) c.72520G>A (p.Ala24174Thr) c.94015G>A (p.Ala31339Thr) c.94012G>A (p.Ala31338Thr) c.93445G>A (p.Ala31149Thr) c.90787G>A (p.Ala30263Thr) c.90706G>A (p.Ala30236Thr) c.72469G>A (p.Ala24157Thr) c.62323G>A (p.Ala20775Thr) | gnomAD v4 |
| 2 | g.178537634T>A | CA349427927 | TTN,TTN-AS1 | c.91869A>T (p.Gln30623His) c.72954A>T (p.Gln24318His) c.72753A>T (p.Gln24251His) c.72378A>T (p.Gln24126His) c.99573A>T (p.Gln33191His) c.94650A>T (p.Gln31550His) n.446+13998T>A n.590T>A c.98670A>T (p.Gln32890His) c.72564A>T (p.Gln24188His) c.72423A>T (p.Gln24141His) c.98466A>T (p.Gln32822His) c.93864A>T (p.Gln31288His) c.93861A>T (p.Gln31287His) c.90903A>T (p.Gln30301His) c.72519A>T (p.Gln24173His) c.94014A>T (p.Gln31338His) c.94011A>T (p.Gln31337His) c.93444A>T (p.Gln31148His) c.90786A>T (p.Gln30262His) c.90705A>T (p.Gln30235His) c.72468A>T (p.Gln24156His) c.62322A>T (p.Gln20774His) | |
| 2 | g.178537634T>C | CA430238992 | TTN,TTN-AS1 | c.91869A>G (p.Gln30623=) c.72954A>G (p.Gln24318=) c.72753A>G (p.Gln24251=) c.72378A>G (p.Gln24126=) c.99573A>G (p.Gln33191=) c.94650A>G (p.Gln31550=) n.446+13998T>C n.590T>C c.98670A>G (p.Gln32890=) c.72564A>G (p.Gln24188=) c.72423A>G (p.Gln24141=) c.98466A>G (p.Gln32822=) c.93864A>G (p.Gln31288=) c.93861A>G (p.Gln31287=) c.90903A>G (p.Gln30301=) c.72519A>G (p.Gln24173=) c.94014A>G (p.Gln31338=) c.94011A>G (p.Gln31337=) c.93444A>G (p.Gln31148=) c.90786A>G (p.Gln30262=) c.90705A>G (p.Gln30235=) c.72468A>G (p.Gln24156=) c.62322A>G (p.Gln20774=) | |
| 2 | g.178537634T>G | CA349427928 | TTN,TTN-AS1 | c.91869A>C (p.Gln30623His) c.72954A>C (p.Gln24318His) c.72753A>C (p.Gln24251His) c.72378A>C (p.Gln24126His) c.99573A>C (p.Gln33191His) c.94650A>C (p.Gln31550His) n.446+13998T>G n.590T>G c.98670A>C (p.Gln32890His) c.72564A>C (p.Gln24188His) c.72423A>C (p.Gln24141His) c.98466A>C (p.Gln32822His) c.93864A>C (p.Gln31288His) c.93861A>C (p.Gln31287His) c.90903A>C (p.Gln30301His) c.72519A>C (p.Gln24173His) c.94014A>C (p.Gln31338His) c.94011A>C (p.Gln31337His) c.93444A>C (p.Gln31148His) c.90786A>C (p.Gln30262His) c.90705A>C (p.Gln30235His) c.72468A>C (p.Gln24156His) c.62322A>C (p.Gln20774His) | |
| 2 | g.178537635T>A | CA349427929 | TTN,TTN-AS1 | c.91868A>T (p.Gln30623Leu) c.72953A>T (p.Gln24318Leu) c.72752A>T (p.Gln24251Leu) c.72377A>T (p.Gln24126Leu) c.99572A>T (p.Gln33191Leu) c.94649A>T (p.Gln31550Leu) n.446+13999T>A n.591T>A c.98669A>T (p.Gln32890Leu) c.72563A>T (p.Gln24188Leu) c.72422A>T (p.Gln24141Leu) c.98465A>T (p.Gln32822Leu) c.93863A>T (p.Gln31288Leu) c.93860A>T (p.Gln31287Leu) c.90902A>T (p.Gln30301Leu) c.72518A>T (p.Gln24173Leu) c.94013A>T (p.Gln31338Leu) c.94010A>T (p.Gln31337Leu) c.93443A>T (p.Gln31148Leu) c.90785A>T (p.Gln30262Leu) c.90704A>T (p.Gln30235Leu) c.72467A>T (p.Gln24156Leu) c.62321A>T (p.Gln20774Leu) | |
| 2 | g.178537635T>C | CA349427930 | TTN,TTN-AS1 | c.91868A>G (p.Gln30623Arg) c.72953A>G (p.Gln24318Arg) c.72752A>G (p.Gln24251Arg) c.72377A>G (p.Gln24126Arg) c.99572A>G (p.Gln33191Arg) c.94649A>G (p.Gln31550Arg) n.446+13999T>C n.591T>C c.98669A>G (p.Gln32890Arg) c.72563A>G (p.Gln24188Arg) c.72422A>G (p.Gln24141Arg) c.98465A>G (p.Gln32822Arg) c.93863A>G (p.Gln31288Arg) c.93860A>G (p.Gln31287Arg) c.90902A>G (p.Gln30301Arg) c.72518A>G (p.Gln24173Arg) c.94013A>G (p.Gln31338Arg) c.94010A>G (p.Gln31337Arg) c.93443A>G (p.Gln31148Arg) c.90785A>G (p.Gln30262Arg) c.90704A>G (p.Gln30235Arg) c.72467A>G (p.Gln24156Arg) c.62321A>G (p.Gln20774Arg) | |
| 2 | g.178537635T>G | CA349427931 | TTN,TTN-AS1 | c.91868A>C (p.Gln30623Pro) c.72953A>C (p.Gln24318Pro) c.72752A>C (p.Gln24251Pro) c.72377A>C (p.Gln24126Pro) c.99572A>C (p.Gln33191Pro) c.94649A>C (p.Gln31550Pro) n.446+13999T>G n.591T>G c.98669A>C (p.Gln32890Pro) c.72563A>C (p.Gln24188Pro) c.72422A>C (p.Gln24141Pro) c.98465A>C (p.Gln32822Pro) c.93863A>C (p.Gln31288Pro) c.93860A>C (p.Gln31287Pro) c.90902A>C (p.Gln30301Pro) c.72518A>C (p.Gln24173Pro) c.94013A>C (p.Gln31338Pro) c.94010A>C (p.Gln31337Pro) c.93443A>C (p.Gln31148Pro) c.90785A>C (p.Gln30262Pro) c.90704A>C (p.Gln30235Pro) c.72467A>C (p.Gln24156Pro) c.62321A>C (p.Gln20774Pro) | |
| 2 | g.178537636G>A | CA349427932 | TTN,TTN-AS1 | c.91867C>T (p.Gln30623Ter) c.72952C>T (p.Gln24318Ter) c.72751C>T (p.Gln24251Ter) c.72376C>T (p.Gln24126Ter) c.99571C>T (p.Gln33191Ter) c.94648C>T (p.Gln31550Ter) n.446+14000G>A n.592G>A c.98668C>T (p.Gln32890Ter) c.72562C>T (p.Gln24188Ter) c.72421C>T (p.Gln24141Ter) c.98464C>T (p.Gln32822Ter) c.93862C>T (p.Gln31288Ter) c.93859C>T (p.Gln31287Ter) c.90901C>T (p.Gln30301Ter) c.72517C>T (p.Gln24173Ter) c.94012C>T (p.Gln31338Ter) c.94009C>T (p.Gln31337Ter) c.93442C>T (p.Gln31148Ter) c.90784C>T (p.Gln30262Ter) c.90703C>T (p.Gln30235Ter) c.72466C>T (p.Gln24156Ter) c.62320C>T (p.Gln20774Ter) | ClinVar |
| 2 | g.178537636G>C | CA349427933 | TTN,TTN-AS1 | c.91867C>G (p.Gln30623Glu) c.72952C>G (p.Gln24318Glu) c.72751C>G (p.Gln24251Glu) c.72376C>G (p.Gln24126Glu) c.99571C>G (p.Gln33191Glu) c.94648C>G (p.Gln31550Glu) n.446+14000G>C n.592G>C c.98668C>G (p.Gln32890Glu) c.72562C>G (p.Gln24188Glu) c.72421C>G (p.Gln24141Glu) c.98464C>G (p.Gln32822Glu) c.93862C>G (p.Gln31288Glu) c.93859C>G (p.Gln31287Glu) c.90901C>G (p.Gln30301Glu) c.72517C>G (p.Gln24173Glu) c.94012C>G (p.Gln31338Glu) c.94009C>G (p.Gln31337Glu) c.93442C>G (p.Gln31148Glu) c.90784C>G (p.Gln30262Glu) c.90703C>G (p.Gln30235Glu) c.72466C>G (p.Gln24156Glu) c.62320C>G (p.Gln20774Glu) | |
| 2 | g.178537636G>T | CA349427934 | TTN,TTN-AS1 | c.91867C>A (p.Gln30623Lys) c.72952C>A (p.Gln24318Lys) c.72751C>A (p.Gln24251Lys) c.72376C>A (p.Gln24126Lys) c.99571C>A (p.Gln33191Lys) c.94648C>A (p.Gln31550Lys) n.446+14000G>T n.592G>T c.98668C>A (p.Gln32890Lys) c.72562C>A (p.Gln24188Lys) c.72421C>A (p.Gln24141Lys) c.98464C>A (p.Gln32822Lys) c.93862C>A (p.Gln31288Lys) c.93859C>A (p.Gln31287Lys) c.90901C>A (p.Gln30301Lys) c.72517C>A (p.Gln24173Lys) c.94012C>A (p.Gln31338Lys) c.94009C>A (p.Gln31337Lys) c.93442C>A (p.Gln31148Lys) c.90784C>A (p.Gln30262Lys) c.90703C>A (p.Gln30235Lys) c.72466C>A (p.Gln24156Lys) c.62320C>A (p.Gln20774Lys) | |
| 2 | g.178537637C>A | CA430239006 | TTN,TTN-AS1 | c.91866G>T (p.Leu30622=) c.72951G>T (p.Leu24317=) c.72750G>T (p.Leu24250=) c.72375G>T (p.Leu24125=) c.99570G>T (p.Leu33190=) c.94647G>T (p.Leu31549=) n.446+14001C>A n.593C>A c.98667G>T (p.Leu32889=) c.72561G>T (p.Leu24187=) c.72420G>T (p.Leu24140=) c.98463G>T (p.Leu32821=) c.93861G>T (p.Leu31287=) c.93858G>T (p.Leu31286=) c.90900G>T (p.Leu30300=) c.72516G>T (p.Leu24172=) c.94011G>T (p.Leu31337=) c.94008G>T (p.Leu31336=) c.93441G>T (p.Leu31147=) c.90783G>T (p.Leu30261=) c.90702G>T (p.Leu30234=) c.72465G>T (p.Leu24155=) c.62319G>T (p.Leu20773=) | |
| 2 | g.178537637C>G | CA430239007 | TTN,TTN-AS1 | c.91866G>C (p.Leu30622=) c.72951G>C (p.Leu24317=) c.72750G>C (p.Leu24250=) c.72375G>C (p.Leu24125=) c.99570G>C (p.Leu33190=) c.94647G>C (p.Leu31549=) n.446+14001C>G n.593C>G c.98667G>C (p.Leu32889=) c.72561G>C (p.Leu24187=) c.72420G>C (p.Leu24140=) c.98463G>C (p.Leu32821=) c.93861G>C (p.Leu31287=) c.93858G>C (p.Leu31286=) c.90900G>C (p.Leu30300=) c.72516G>C (p.Leu24172=) c.94011G>C (p.Leu31337=) c.94008G>C (p.Leu31336=) c.93441G>C (p.Leu31147=) c.90783G>C (p.Leu30261=) c.90702G>C (p.Leu30234=) c.72465G>C (p.Leu24155=) c.62319G>C (p.Leu20773=) | |
| 2 | g.178537637C>T | CA430239008 | TTN,TTN-AS1 | c.91866G>A (p.Leu30622=) c.72951G>A (p.Leu24317=) c.72750G>A (p.Leu24250=) c.72375G>A (p.Leu24125=) c.99570G>A (p.Leu33190=) c.94647G>A (p.Leu31549=) n.446+14001C>T n.593C>T c.98667G>A (p.Leu32889=) c.72561G>A (p.Leu24187=) c.72420G>A (p.Leu24140=) c.98463G>A (p.Leu32821=) c.93861G>A (p.Leu31287=) c.93858G>A (p.Leu31286=) c.90900G>A (p.Leu30300=) c.72516G>A (p.Leu24172=) c.94011G>A (p.Leu31337=) c.94008G>A (p.Leu31336=) c.93441G>A (p.Leu31147=) c.90783G>A (p.Leu30261=) c.90702G>A (p.Leu30234=) c.72465G>A (p.Leu24155=) c.62319G>A (p.Leu20773=) | |
| 2 | g.178537638A= | CA1310515569 | TTN,TTN-AS1 | c.91865T= (p.Leu30622=) c.72950T= (p.Leu24317=) c.72749T= (p.Leu24250=) c.72374T= (p.Leu24125=) c.99569T= (p.Leu33190=) c.94646T= (p.Leu31549=) n.446+14002A= n.594A= c.98666T= (p.Leu32889=) c.72560T= (p.Leu24187=) c.72419T= (p.Leu24140=) c.98462T= (p.Leu32821=) c.93860T= (p.Leu31287=) c.93857T= (p.Leu31286=) c.90899T= (p.Leu30300=) c.72515T= (p.Leu24172=) c.94010T= (p.Leu31337=) c.94007T= (p.Leu31336=) c.93440T= (p.Leu31147=) c.90782T= (p.Leu30261=) c.90701T= (p.Leu30234=) c.72464T= (p.Leu24155=) c.62318T= (p.Leu20773=) | |
| 2 | g.178537638A>C | CA349427936 | TTN,TTN-AS1 | c.91865T>G (p.Leu30622Arg) c.72950T>G (p.Leu24317Arg) c.72749T>G (p.Leu24250Arg) c.72374T>G (p.Leu24125Arg) c.99569T>G (p.Leu33190Arg) c.94646T>G (p.Leu31549Arg) n.446+14002A>C n.594A>C c.98666T>G (p.Leu32889Arg) c.72560T>G (p.Leu24187Arg) c.72419T>G (p.Leu24140Arg) c.98462T>G (p.Leu32821Arg) c.93860T>G (p.Leu31287Arg) c.93857T>G (p.Leu31286Arg) c.90899T>G (p.Leu30300Arg) c.72515T>G (p.Leu24172Arg) c.94010T>G (p.Leu31337Arg) c.94007T>G (p.Leu31336Arg) c.93440T>G (p.Leu31147Arg) c.90782T>G (p.Leu30261Arg) c.90701T>G (p.Leu30234Arg) c.72464T>G (p.Leu24155Arg) c.62318T>G (p.Leu20773Arg) | ClinVar dbSNP |
| 2 | g.178537638A>G | CA349427937 | TTN,TTN-AS1 | c.91865T>C (p.Leu30622Pro) c.72950T>C (p.Leu24317Pro) c.72749T>C (p.Leu24250Pro) c.72374T>C (p.Leu24125Pro) c.99569T>C (p.Leu33190Pro) c.94646T>C (p.Leu31549Pro) n.446+14002A>G n.594A>G c.98666T>C (p.Leu32889Pro) c.72560T>C (p.Leu24187Pro) c.72419T>C (p.Leu24140Pro) c.98462T>C (p.Leu32821Pro) c.93860T>C (p.Leu31287Pro) c.93857T>C (p.Leu31286Pro) c.90899T>C (p.Leu30300Pro) c.72515T>C (p.Leu24172Pro) c.94010T>C (p.Leu31337Pro) c.94007T>C (p.Leu31336Pro) c.93440T>C (p.Leu31147Pro) c.90782T>C (p.Leu30261Pro) c.90701T>C (p.Leu30234Pro) c.72464T>C (p.Leu24155Pro) c.62318T>C (p.Leu20773Pro) | |
| 2 | g.178537638A>T | CA349427935 | TTN,TTN-AS1 | c.91865T>A (p.Leu30622Gln) c.72950T>A (p.Leu24317Gln) c.72749T>A (p.Leu24250Gln) c.72374T>A (p.Leu24125Gln) c.99569T>A (p.Leu33190Gln) c.94646T>A (p.Leu31549Gln) n.446+14002A>T n.594A>T c.98666T>A (p.Leu32889Gln) c.72560T>A (p.Leu24187Gln) c.72419T>A (p.Leu24140Gln) c.98462T>A (p.Leu32821Gln) c.93860T>A (p.Leu31287Gln) c.93857T>A (p.Leu31286Gln) c.90899T>A (p.Leu30300Gln) c.72515T>A (p.Leu24172Gln) c.94010T>A (p.Leu31337Gln) c.94007T>A (p.Leu31336Gln) c.93440T>A (p.Leu31147Gln) c.90782T>A (p.Leu30261Gln) c.90701T>A (p.Leu30234Gln) c.72464T>A (p.Leu24155Gln) c.62318T>A (p.Leu20773Gln) | |
| 2 | g.178537639G>A | CA1986169 | TTN,TTN-AS1 | c.91864C>T (p.Leu30622=) c.72949C>T (p.Leu24317=) c.72748C>T (p.Leu24250=) c.72373C>T (p.Leu24125=) c.99568C>T (p.Leu33190=) c.94645C>T (p.Leu31549=) n.446+14003G>A n.595G>A c.98665C>T (p.Leu32889=) c.72559C>T (p.Leu24187=) c.72418C>T (p.Leu24140=) c.98461C>T (p.Leu32821=) c.93859C>T (p.Leu31287=) c.93856C>T (p.Leu31286=) c.90898C>T (p.Leu30300=) c.72514C>T (p.Leu24172=) c.94009C>T (p.Leu31337=) c.94006C>T (p.Leu31336=) c.93439C>T (p.Leu31147=) c.90781C>T (p.Leu30261=) c.90700C>T (p.Leu30234=) c.72463C>T (p.Leu24155=) c.62317C>T (p.Leu20773=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.178537639G>C | CA349427938 | TTN,TTN-AS1 | c.91864C>G (p.Leu30622Val) c.72949C>G (p.Leu24317Val) c.72748C>G (p.Leu24250Val) c.72373C>G (p.Leu24125Val) c.99568C>G (p.Leu33190Val) c.94645C>G (p.Leu31549Val) n.446+14003G>C n.595G>C c.98665C>G (p.Leu32889Val) c.72559C>G (p.Leu24187Val) c.72418C>G (p.Leu24140Val) c.98461C>G (p.Leu32821Val) c.93859C>G (p.Leu31287Val) c.93856C>G (p.Leu31286Val) c.90898C>G (p.Leu30300Val) c.72514C>G (p.Leu24172Val) c.94009C>G (p.Leu31337Val) c.94006C>G (p.Leu31336Val) c.93439C>G (p.Leu31147Val) c.90781C>G (p.Leu30261Val) c.90700C>G (p.Leu30234Val) c.72463C>G (p.Leu24155Val) c.62317C>G (p.Leu20773Val) | |
| 2 | g.178537639G= | CA1310515570 | TTN,TTN-AS1 | c.91864C= (p.Leu30622=) c.72949C= (p.Leu24317=) c.72748C= (p.Leu24250=) c.72373C= (p.Leu24125=) c.99568C= (p.Leu33190=) c.94645C= (p.Leu31549=) n.446+14003G= n.595G= c.98665C= (p.Leu32889=) c.72559C= (p.Leu24187=) c.72418C= (p.Leu24140=) c.98461C= (p.Leu32821=) c.93859C= (p.Leu31287=) c.93856C= (p.Leu31286=) c.90898C= (p.Leu30300=) c.72514C= (p.Leu24172=) c.94009C= (p.Leu31337=) c.94006C= (p.Leu31336=) c.93439C= (p.Leu31147=) c.90781C= (p.Leu30261=) c.90700C= (p.Leu30234=) c.72463C= (p.Leu24155=) c.62317C= (p.Leu20773=) | |
| 2 | g.178537639G>T | CA349427939 | TTN,TTN-AS1 | c.91864C>A (p.Leu30622Met) c.72949C>A (p.Leu24317Met) c.72748C>A (p.Leu24250Met) c.72373C>A (p.Leu24125Met) c.99568C>A (p.Leu33190Met) c.94645C>A (p.Leu31549Met) n.446+14003G>T n.595G>T c.98665C>A (p.Leu32889Met) c.72559C>A (p.Leu24187Met) c.72418C>A (p.Leu24140Met) c.98461C>A (p.Leu32821Met) c.93859C>A (p.Leu31287Met) c.93856C>A (p.Leu31286Met) c.90898C>A (p.Leu30300Met) c.72514C>A (p.Leu24172Met) c.94009C>A (p.Leu31337Met) c.94006C>A (p.Leu31336Met) c.93439C>A (p.Leu31147Met) c.90781C>A (p.Leu30261Met) c.90700C>A (p.Leu30234Met) c.72463C>A (p.Leu24155Met) c.62317C>A (p.Leu20773Met) | |
| 2 | g.178537640G>A | CA1986170 | TTN,TTN-AS1 | c.91863C>T (p.Leu30621=) c.72948C>T (p.Leu24316=) c.72747C>T (p.Leu24249=) c.72372C>T (p.Leu24124=) c.99567C>T (p.Leu33189=) c.94644C>T (p.Leu31548=) n.446+14004G>A n.596G>A c.98664C>T (p.Leu32888=) c.72558C>T (p.Leu24186=) c.72417C>T (p.Leu24139=) c.98460C>T (p.Leu32820=) c.93858C>T (p.Leu31286=) c.93855C>T (p.Leu31285=) c.90897C>T (p.Leu30299=) c.72513C>T (p.Leu24171=) c.94008C>T (p.Leu31336=) c.94005C>T (p.Leu31335=) c.93438C>T (p.Leu31146=) c.90780C>T (p.Leu30260=) c.90699C>T (p.Leu30233=) c.72462C>T (p.Leu24154=) c.62316C>T (p.Leu20772=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |