Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.121145687T>A | CA383021690 | TBCEL-TECTA,TECTA | c.3676T>A (p.Ser1226Thr) c.983T>A n.241T>A c.4633T>A (p.Ser1545Thr) | |
11 | g.121145687T>C | CA383021693 | TBCEL-TECTA,TECTA | c.3676T>C (p.Ser1226Pro) c.983T>C n.241T>C c.4633T>C (p.Ser1545Pro) | |
11 | g.121145687T>G | CA383021697 | TBCEL-TECTA,TECTA | c.3676T>G (p.Ser1226Ala) c.983T>G n.241T>G c.4633T>G (p.Ser1545Ala) | |
11 | g.121145688C>A | CA383021700 | TBCEL-TECTA,TECTA | c.3677C>A (p.Ser1226Tyr) c.984C>A n.242C>A c.4634C>A (p.Ser1545Tyr) | |
11 | g.121145688C>G | CA383021703 | TBCEL-TECTA,TECTA | c.3677C>G (p.Ser1226Cys) c.984C>G n.242C>G c.4634C>G (p.Ser1545Cys) | |
11 | g.121145688C>T | CA383021706 | TBCEL-TECTA,TECTA | c.3677C>T (p.Ser1226Phe) c.984C>T n.242C>T c.4634C>T (p.Ser1545Phe) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
11 | g.121145689_121145694dup | CA2616488431 | TBCEL-TECTA,TECTA | c.3678_3683dup (p.Thr1228_Val1229insIleThr) c.985_990dup n.243_248dup c.4635_4640dup (p.Thr1547_Val1548insIleThr) | gnomAD v4 |
11 | g.121145688_121145689insATATA | CA2830555625 | TBCEL-TECTA,TECTA | c.3677_3678insATATA (p.Ile1227TyrfsTer?) c.984_985insATATA n.242_243insATATA c.4634_4635insATATA (p.Ile1546TyrfsTer?) | |
11 | g.121145689C>A | CA477382766 | TBCEL-TECTA,TECTA | c.3678C>A (p.Ser1226=) c.985C>A n.243C>A c.4635C>A (p.Ser1545=) | |
11 | g.121145689C>G | CA477382767 | TBCEL-TECTA,TECTA | c.3678C>G (p.Ser1226=) c.985C>G n.243C>G c.4635C>G (p.Ser1545=) | |
11 | g.121145689C>T | CA477382768 | TBCEL-TECTA,TECTA | c.3678C>T (p.Ser1226=) c.985C>T n.243C>T c.4635C>T (p.Ser1545=) | gnomAD v4 |
11 | g.121145690A>C | CA383021708 | TBCEL-TECTA,TECTA | c.3679A>C (p.Ile1227Leu) c.986A>C n.244A>C c.4636A>C (p.Ile1546Leu) | |
11 | g.121145690A>G | CA383021711 | TBCEL-TECTA,TECTA | c.3679A>G (p.Ile1227Val) c.986A>G n.244A>G c.4636A>G (p.Ile1546Val) | |
11 | g.121145690A>T | CA383021714 | TBCEL-TECTA,TECTA | c.3679A>T (p.Ile1227Phe) c.986A>T n.244A>T c.4636A>T (p.Ile1546Phe) | |
11 | g.121145691T>A | CA383021724 | TBCEL-TECTA,TECTA | c.3680T>A (p.Ile1227Asn) c.987T>A n.245T>A c.4637T>A (p.Ile1546Asn) | |
11 | g.121145691T>C | CA383021721 | TBCEL-TECTA,TECTA | c.3680T>C (p.Ile1227Thr) c.987T>C n.245T>C c.4637T>C (p.Ile1546Thr) | |
11 | g.121145691T>G | CA383021718 | TBCEL-TECTA,TECTA | c.3680T>G (p.Ile1227Ser) c.987T>G n.245T>G c.4637T>G (p.Ile1546Ser) | |
11 | g.121145692C>A | CA477382771 | TBCEL-TECTA,TECTA | c.3681C>A (p.Ile1227=) c.988C>A n.246C>A c.4638C>A (p.Ile1546=) | |
11 | g.121145692C>G | CA383021727 | TBCEL-TECTA,TECTA | c.3681C>G (p.Ile1227Met) c.988C>G n.246C>G c.4638C>G (p.Ile1546Met) | |
11 | g.121145692C>T | CA477382770 | TBCEL-TECTA,TECTA | c.3681C>T (p.Ile1227=) c.988C>T n.246C>T c.4638C>T (p.Ile1546=) | |
11 | g.121145693A>C | CA383021731 | TBCEL-TECTA,TECTA | c.3682A>C (p.Thr1228Pro) c.989A>C n.247A>C c.4639A>C (p.Thr1547Pro) | |
11 | g.121145693A>G | CA383021734 | TBCEL-TECTA,TECTA | c.3682A>G (p.Thr1228Ala) c.989A>G n.247A>G c.4639A>G (p.Thr1547Ala) | |
11 | g.121145693A>T | CA383021736 | TBCEL-TECTA,TECTA | c.3682A>T (p.Thr1228Ser) c.989A>T n.247A>T c.4639A>T (p.Thr1547Ser) | |
11 | g.121145694C>A | CA383021739 | TBCEL-TECTA,TECTA | c.3683C>A (p.Thr1228Lys) c.990C>A n.248C>A c.4640C>A (p.Thr1547Lys) | |
11 | g.121145694C= | CA2004737490 | TBCEL-TECTA,TECTA | c.3683C= (p.Thr1228=) c.990C= n.248C= c.4640C= (p.Thr1547=) | |
11 | g.121145694C>G | CA383021745 | TBCEL-TECTA,TECTA | c.3683C>G (p.Thr1228Arg) c.990C>G n.248C>G c.4640C>G (p.Thr1547Arg) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.121145694C>T | CA383021747 | TBCEL-TECTA,TECTA | c.3683C>T (p.Thr1228Ile) c.990C>T n.248C>T c.4640C>T (p.Thr1547Ile) | |
11 | g.121145695A>C | CA477382775 | TBCEL-TECTA,TECTA | c.3684A>C (p.Thr1228=) c.991A>C n.249A>C c.4641A>C (p.Thr1547=) | |
11 | g.121145695A>G | CA477382773 | TBCEL-TECTA,TECTA | c.3684A>G (p.Thr1228=) c.991A>G n.249A>G c.4641A>G (p.Thr1547=) | ClinVar |
11 | g.121145695A>T | CA477382774 | TBCEL-TECTA,TECTA | c.3684A>T (p.Thr1228=) c.991A>T n.249A>T c.4641A>T (p.Thr1547=) | |
11 | g.121145695_121145696delinsAG | CA2004737491 | TBCEL-TECTA,TECTA | c.3684_3685delinsAG (p.Thr1228=) c.991_992delinsAG n.249_250delinsAG c.4641_4642delinsAG (p.Thr1547=) | |
11 | g.121145696del | CA6327265 | TBCEL-TECTA,TECTA | c.3685del (p.Val1229SerfsTer?) c.992del n.250del c.4642del (p.Val1548SerfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121145696G>A | CA383021759 | TBCEL-TECTA,TECTA | c.3685G>A (p.Val1229Ile) c.992G>A n.250G>A c.4642G>A (p.Val1548Ile) | |
11 | g.121145696G>C | CA383021751 | TBCEL-TECTA,TECTA | c.3685G>C (p.Val1229Leu) c.992G>C n.250G>C c.4642G>C (p.Val1548Leu) | |
11 | g.121145696G>T | CA383021755 | TBCEL-TECTA,TECTA | c.3685G>T (p.Val1229Phe) c.992G>T n.250G>T c.4642G>T (p.Val1548Phe) | |
11 | g.121145697T>A | CA383021761 | TBCEL-TECTA,TECTA | c.3686T>A (p.Val1229Asp) c.993T>A n.251T>A c.4643T>A (p.Val1548Asp) | |
11 | g.121145697T>C | CA383021762 | TBCEL-TECTA,TECTA | c.3686T>C (p.Val1229Ala) c.993T>C n.251T>C c.4643T>C (p.Val1548Ala) | |
11 | g.121145697T>G | CA383021767 | TBCEL-TECTA,TECTA | c.3686T>G (p.Val1229Gly) c.993T>G n.251T>G c.4643T>G (p.Val1548Gly) | |
11 | g.121145698C>A | CA477382779 | TBCEL-TECTA,TECTA | c.3687C>A (p.Val1229=) c.994C>A n.252C>A c.4644C>A (p.Val1548=) | |
11 | g.121145698C= | CA2004737492 | TBCEL-TECTA,TECTA | c.3687C= (p.Val1229=) c.994C= n.252C= c.4644C= (p.Val1548=) | |
11 | g.121145698C>G | CA477382780 | TBCEL-TECTA,TECTA | c.3687C>G (p.Val1229=) c.994C>G n.252C>G c.4644C>G (p.Val1548=) | |
11 | g.121145698C>T | CA6327266 | TBCEL-TECTA,TECTA | c.3687C>T (p.Val1229=) c.994C>T n.252C>T c.4644C>T (p.Val1548=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121145699C>A | CA383021774 | TBCEL-TECTA,TECTA | c.3688C>A (p.Pro1230Thr) c.995C>A n.253C>A c.4645C>A (p.Pro1549Thr) | |
11 | g.121145699C>G | CA383021783 | TBCEL-TECTA,TECTA | c.3688C>G (p.Pro1230Ala) c.995C>G n.253C>G c.4645C>G (p.Pro1549Ala) | |
11 | g.121145699C>T | CA383021780 | TBCEL-TECTA,TECTA | c.3688C>T (p.Pro1230Ser) c.995C>T n.253C>T c.4645C>T (p.Pro1549Ser) | COSMIC |
11 | g.121145700C>A | CA383021786 | TBCEL-TECTA,TECTA | c.3689C>A (p.Pro1230His) c.996C>A n.254C>A c.4646C>A (p.Pro1549His) | dbSNP |
11 | g.121145700C= | CA2004737493 | TBCEL-TECTA,TECTA | c.3689C= (p.Pro1230=) c.996C= n.254C= c.4646C= (p.Pro1549=) | |
11 | g.121145700C>G | CA383021789 | TBCEL-TECTA,TECTA | c.3689C>G (p.Pro1230Arg) c.996C>G n.254C>G c.4646C>G (p.Pro1549Arg) | |
11 | g.121145700C>T | CA383021793 | TBCEL-TECTA,TECTA | c.3689C>T (p.Pro1230Leu) c.996C>T n.254C>T c.4646C>T (p.Pro1549Leu) | |
11 | g.121145701T>A | CA477382784 | TBCEL-TECTA,TECTA | c.3690T>A (p.Pro1230=) c.997T>A n.255T>A c.4647T>A (p.Pro1549=) | dbSNP |
11 | g.121145701T>C | CA477382785 | TBCEL-TECTA,TECTA | c.3690T>C (p.Pro1230=) c.997T>C n.255T>C c.4647T>C (p.Pro1549=) | |
11 | g.121145701T>G | CA477382786 | TBCEL-TECTA,TECTA | c.3690T>G (p.Pro1230=) c.997T>G n.255T>G c.4647T>G (p.Pro1549=) | |
11 | g.121145701T= | CA2004737494 | TBCEL-TECTA,TECTA | c.3690T= (p.Pro1230=) c.997T= n.255T= c.4647T= (p.Pro1549=) | |
11 | g.121145702C>A | CA477382787 | TBCEL-TECTA,TECTA | c.3691C>A (p.Arg1231=) c.998C>A n.256C>A c.4648C>A (p.Arg1550=) | |
11 | g.121145702C= | CA2004737495 | TBCEL-TECTA,TECTA | c.3691C= (p.Arg1231=) c.998C= n.256C= c.4648C= (p.Arg1550=) | |
11 | g.121145702C>G | CA383021796 | TBCEL-TECTA,TECTA | c.3691C>G (p.Arg1231Gly) c.998C>G n.256C>G c.4648C>G (p.Arg1550Gly) | |
11 | g.121145702C>T | CA6327267 | TBCEL-TECTA,TECTA | c.3691C>T (p.Arg1231Trp) c.998C>T n.256C>T c.4648C>T (p.Arg1550Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.121145703G>A | CA6327269 | TBCEL-TECTA,TECTA | c.3692G>A (p.Arg1231Gln) c.999G>A n.257G>A c.4649G>A (p.Arg1550Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121145703G>C | CA6327268 | TBCEL-TECTA,TECTA | c.3692G>C (p.Arg1231Pro) c.999G>C n.257G>C c.4649G>C (p.Arg1550Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121145703G= | CA2004737496 | TBCEL-TECTA,TECTA | c.3692G= (p.Arg1231=) c.999G= n.257G= c.4649G= (p.Arg1550=) | |
11 | g.121145703G>T | CA383021805 | TBCEL-TECTA,TECTA | c.3692G>T (p.Arg1231Leu) c.999G>T n.257G>T c.4649G>T (p.Arg1550Leu) | |
11 | g.121145704G>A | CA477382793 | TBCEL-TECTA,TECTA | c.3693G>A (p.Arg1231=) c.1000G>A n.258G>A c.4650G>A (p.Arg1550=) | |
11 | g.121145704G>C | CA477382790 | TBCEL-TECTA,TECTA | c.3693G>C (p.Arg1231=) c.1000G>C n.258G>C c.4650G>C (p.Arg1550=) | |
11 | g.121145704G>T | CA477382792 | TBCEL-TECTA,TECTA | c.3693G>T (p.Arg1231=) c.1000G>T n.258G>T c.4650G>T (p.Arg1550=) | |
11 | g.121145705A= | CA2004737497 | TBCEL-TECTA,TECTA | c.3694A= (p.Ser1232=) c.1001A= n.259A= c.4651A= (p.Ser1551=) | |
11 | g.121145705A>C | CA383021807 | TBCEL-TECTA,TECTA | c.3694A>C (p.Ser1232Arg) c.1001A>C n.259A>C c.4651A>C (p.Ser1551Arg) | |
11 | g.121145705A>G | CA6327270 | TBCEL-TECTA,TECTA | c.3694A>G (p.Ser1232Gly) c.1001A>G n.259A>G c.4651A>G (p.Ser1551Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121145705A>T | CA383021812 | TBCEL-TECTA,TECTA | c.3694A>T (p.Ser1232Cys) c.1001A>T n.259A>T c.4651A>T (p.Ser1551Cys) | |
11 | g.121145706G>A | CA383021823 | TBCEL-TECTA,TECTA | c.3695G>A (p.Ser1232Asn) c.1002G>A n.260G>A c.4652G>A (p.Ser1551Asn) | ClinVar |
11 | g.121145706G>C | CA383021816 | TBCEL-TECTA,TECTA | c.3695G>C (p.Ser1232Thr) c.1002G>C n.260G>C c.4652G>C (p.Ser1551Thr) | |
11 | g.121145706G= | CA2004737498 | TBCEL-TECTA,TECTA | c.3695G= (p.Ser1232=) c.1002G= n.260G= c.4652G= (p.Ser1551=) | |
11 | g.121145706G>T | CA383021820 | TBCEL-TECTA,TECTA | c.3695G>T (p.Ser1232Ile) c.1002G>T n.260G>T c.4652G>T (p.Ser1551Ile) | dbSNP gnomAD v4 |
11 | g.121145707C>A | CA383021827 | TBCEL-TECTA,TECTA | c.3696C>A (p.Ser1232Arg) c.1003C>A n.261C>A c.4653C>A (p.Ser1551Arg) | |
11 | g.121145707C>G | CA383021829 | TBCEL-TECTA,TECTA | c.3696C>G (p.Ser1232Arg) c.1003C>G n.261C>G c.4653C>G (p.Ser1551Arg) | |
11 | g.121145707C>T | CA477382797 | TBCEL-TECTA,TECTA | c.3696C>T (p.Ser1232=) c.1003C>T n.261C>T c.4653C>T (p.Ser1551=) | gnomAD v4 COSMIC |
11 | g.121145707_121145709delinsCAT | CA2004737499 | TBCEL-TECTA,TECTA | c.3696_3698delinsCAT (p.Ser1232=) c.1003_1005delinsCAT n.261_263delinsCAT c.4653_4655delinsCAT (p.Ser1551=) | |
11 | g.121145708A= | CA2004737500 | TBCEL-TECTA,TECTA | c.3697A= (p.Met1233=) c.1004A= n.262A= c.4654A= (p.Met1552=) | |
11 | g.121145708A>C | CA383021832 | TBCEL-TECTA,TECTA | c.3697A>C (p.Met1233Leu) c.1004A>C n.262A>C c.4654A>C (p.Met1552Leu) | |
11 | g.121145708A>G | CA383021835 | TBCEL-TECTA,TECTA | c.3697A>G (p.Met1233Val) c.1004A>G n.262A>G c.4654A>G (p.Met1552Val) | dbSNP gnomAD v4 |
11 | g.121145708A>T | CA383021838 | TBCEL-TECTA,TECTA | c.3697A>T (p.Met1233Leu) c.1004A>T n.262A>T c.4654A>T (p.Met1552Leu) | |
11 | g.121145708_121145709del | CA6327271 | TBCEL-TECTA,TECTA | c.3697_3698del (p.Met1233AlafsTer16) c.1004_1005del n.262_263del c.4654_4655del (p.Met1552AlafsTer16) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121145709T>A | CA383021841 | TBCEL-TECTA,TECTA | c.3698T>A (p.Met1233Lys) c.1005T>A n.263T>A c.4655T>A (p.Met1552Lys) | |
11 | g.121145709T>C | CA383021846 | TBCEL-TECTA,TECTA | c.3698T>C (p.Met1233Thr) c.1005T>C n.263T>C c.4655T>C (p.Met1552Thr) | gnomAD v4 |
11 | g.121145709T>G | CA229831279 | TBCEL-TECTA,TECTA | c.3698T>G (p.Met1233Arg) c.1005T>G n.263T>G c.4655T>G (p.Met1552Arg) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.121145709T= | CA2004737501 | TBCEL-TECTA,TECTA | c.3698T= (p.Met1233=) c.1005T= n.263T= c.4655T= (p.Met1552=) | |
11 | g.121145710G>A | CA383021851 | TBCEL-TECTA,TECTA | c.3699G>A (p.Met1233Ile) c.1006G>A n.264G>A c.4656G>A (p.Met1552Ile) | |
11 | g.121145710G>C | CA383021854 | TBCEL-TECTA,TECTA | c.3699G>C (p.Met1233Ile) c.1006G>C n.264G>C c.4656G>C (p.Met1552Ile) | |
11 | g.121145710G>T | CA383021855 | TBCEL-TECTA,TECTA | c.3699G>T (p.Met1233Ile) c.1006G>T n.264G>T c.4656G>T (p.Met1552Ile) | gnomAD v4 |
11 | g.121145711C>A | CA383021863 | TBCEL-TECTA,TECTA | c.3700C>A (p.Gln1234Lys) c.1007C>A n.265C>A c.4657C>A (p.Gln1553Lys) | |
11 | g.121145711C= | CA2004737502 | TBCEL-TECTA,TECTA | c.3700C= (p.Gln1234=) c.1007C= n.265C= c.4657C= (p.Gln1553=) | |
11 | g.121145711C>G | CA383021861 | TBCEL-TECTA,TECTA | c.3700C>G (p.Gln1234Glu) c.1007C>G n.265C>G c.4657C>G (p.Gln1553Glu) | |
11 | g.121145711C>T | CA6327272 | TBCEL-TECTA,TECTA | c.3700C>T (p.Gln1234Ter) c.1007C>T n.265C>T c.4657C>T (p.Gln1553Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121145712A>C | CA383021865 | TBCEL-TECTA,TECTA | c.3701A>C (p.Gln1234Pro) c.1008A>C n.266A>C c.4658A>C (p.Gln1553Pro) | |
11 | g.121145712A>G | CA383021867 | TBCEL-TECTA,TECTA | c.3701A>G (p.Gln1234Arg) c.1008A>G n.266A>G c.4658A>G (p.Gln1553Arg) | |
11 | g.121145712A>T | CA383021869 | TBCEL-TECTA,TECTA | c.3701A>T (p.Gln1234Leu) c.1008A>T n.266A>T c.4658A>T (p.Gln1553Leu) | |
11 | g.121145713G>A | CA477382803 | TBCEL-TECTA,TECTA | c.3702G>A (p.Gln1234=) c.1009G>A n.267G>A c.4659G>A (p.Gln1553=) | |
11 | g.121145713G>C | CA383021874 | TBCEL-TECTA,TECTA | c.3702G>C (p.Gln1234His) c.1009G>C n.267G>C c.4659G>C (p.Gln1553His) | |
11 | g.121145713G>T | CA383021876 | TBCEL-TECTA,TECTA | c.3702G>T (p.Gln1234His) c.1009G>T n.267G>T c.4659G>T (p.Gln1553His) | COSMIC |
11 | g.121145714A>C | CA383021880 | TBCEL-TECTA,TECTA | c.3703A>C (p.Asn1235His) c.1010A>C n.268A>C c.4660A>C (p.Asn1554His) | |
11 | g.121145714A>G | CA383021885 | TBCEL-TECTA,TECTA | c.3703A>G (p.Asn1235Asp) c.1010A>G n.268A>G c.4660A>G (p.Asn1554Asp) | |
11 | g.121145714A>T | CA383021890 | TBCEL-TECTA,TECTA | c.3703A>T (p.Asn1235Tyr) c.1010A>T n.268A>T c.4660A>T (p.Asn1554Tyr) | |
11 | g.121145715A= | CA2004737503 | TBCEL-TECTA,TECTA | c.3704A= (p.Asn1235=) c.1011A= n.269A= c.4661A= (p.Asn1554=) | |
11 | g.121145715A>C | CA383021892 | TBCEL-TECTA,TECTA | c.3704A>C (p.Asn1235Thr) c.1011A>C n.269A>C c.4661A>C (p.Asn1554Thr) | |
11 | g.121145715A>G | CA6327273 | TBCEL-TECTA,TECTA | c.3704A>G (p.Asn1235Ser) c.1011A>G n.269A>G c.4661A>G (p.Asn1554Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121145715A>T | CA383021896 | TBCEL-TECTA,TECTA | c.3704A>T (p.Asn1235Ile) c.1011A>T n.269A>T c.4661A>T (p.Asn1554Ile) | |
11 | g.121145716C>A | CA383021897 | TBCEL-TECTA,TECTA | c.3705C>A (p.Asn1235Lys) c.1012C>A n.270C>A c.4662C>A (p.Asn1554Lys) | |
11 | g.121145716C>G | CA383021898 | TBCEL-TECTA,TECTA | c.3705C>G (p.Asn1235Lys) c.1012C>G n.270C>G c.4662C>G (p.Asn1554Lys) | |
11 | g.121145716C>T | CA477382809 | TBCEL-TECTA,TECTA | c.3705C>T (p.Asn1235=) c.1012C>T n.270C>T c.4662C>T (p.Asn1554=) | |
11 | g.121145717A>C | CA383021900 | TBCEL-TECTA,TECTA | c.3706A>C (p.Ser1236Arg) c.1013A>C n.271A>C c.4663A>C (p.Ser1555Arg) | |
11 | g.121145717A>G | CA383021902 | TBCEL-TECTA,TECTA | c.3706A>G (p.Ser1236Gly) c.1013A>G n.271A>G c.4663A>G (p.Ser1555Gly) | |
11 | g.121145717A>T | CA383021899 | TBCEL-TECTA,TECTA | c.3706A>T (p.Ser1236Cys) c.1013A>T n.271A>T c.4663A>T (p.Ser1555Cys) | |
11 | g.121145718G>A | CA383021905 | TBCEL-TECTA,TECTA | c.3707G>A (p.Ser1236Asn) c.1014G>A n.272G>A c.4664G>A (p.Ser1555Asn) | |
11 | g.121145718G>C | CA383021911 | TBCEL-TECTA,TECTA | c.3707G>C (p.Ser1236Thr) c.1014G>C n.272G>C c.4664G>C (p.Ser1555Thr) | |
11 | g.121145718G= | CA2004737504 | TBCEL-TECTA,TECTA | c.3707G= (p.Ser1236=) c.1014G= n.272G= c.4664G= (p.Ser1555=) | |
11 | g.121145718G>T | CA383021907 | TBCEL-TECTA,TECTA | c.3707G>T (p.Ser1236Ile) c.1014G>T n.272G>T c.4664G>T (p.Ser1555Ile) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.121145719C>A | CA383021914 | TBCEL-TECTA,TECTA | c.3708C>A (p.Ser1236Arg) c.1015C>A n.273C>A c.4665C>A (p.Ser1555Arg) | |
11 | g.121145719C>G | CA383021916 | TBCEL-TECTA,TECTA | c.3708C>G (p.Ser1236Arg) c.1015C>G n.273C>G c.4665C>G (p.Ser1555Arg) | |
11 | g.121145719C>T | CA477382812 | TBCEL-TECTA,TECTA | c.3708C>T (p.Ser1236=) c.1015C>T n.273C>T c.4665C>T (p.Ser1555=) | |
11 | g.121145720A= | CA2004737505 | TBCEL-TECTA,TECTA | c.3709A= (p.Thr1237=) c.1016A= n.274A= c.4666A= (p.Thr1556=) | |
11 | g.121145720A>C | CA383021920 | TBCEL-TECTA,TECTA | c.3709A>C (p.Thr1237Pro) c.1016A>C n.274A>C c.4666A>C (p.Thr1556Pro) | dbSNP |
11 | g.121145720A>G | CA383021922 | TBCEL-TECTA,TECTA | c.3709A>G (p.Thr1237Ala) c.1016A>G n.274A>G c.4666A>G (p.Thr1556Ala) | |
11 | g.121145720A>T | CA383021927 | TBCEL-TECTA,TECTA | c.3709A>T (p.Thr1237Ser) c.1016A>T n.274A>T c.4666A>T (p.Thr1556Ser) | |
11 | g.121145721C>A | CA383021937 | TBCEL-TECTA,TECTA | c.3710C>A (p.Thr1237Asn) c.1017C>A n.275C>A c.4667C>A (p.Thr1556Asn) | |
11 | g.121145721C= | CA2004737506 | TBCEL-TECTA,TECTA | c.3710C= (p.Thr1237=) c.1017C= n.275C= c.4667C= (p.Thr1556=) | |
11 | g.121145721C>G | CA383021933 | TBCEL-TECTA,TECTA | c.3710C>G (p.Thr1237Ser) c.1017C>G n.275C>G c.4667C>G (p.Thr1556Ser) | |
11 | g.121145721C>T | CA383021930 | TBCEL-TECTA,TECTA | c.3710C>T (p.Thr1237Ile) c.1017C>T n.275C>T c.4667C>T (p.Thr1556Ile) | ClinVar dbSNP gnomAD v2 |
11 | g.121145722C>A | CA477382814 | TBCEL-TECTA,TECTA | c.3711C>A (p.Thr1237=) c.1018C>A n.276C>A c.4668C>A (p.Thr1556=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121145722C= | CA2004737507 | TBCEL-TECTA,TECTA | c.3711C= (p.Thr1237=) c.1018C= n.276C= c.4668C= (p.Thr1556=) | |
11 | g.121145722C>G | CA477382815 | TBCEL-TECTA,TECTA | c.3711C>G (p.Thr1237=) c.1018C>G n.276C>G c.4668C>G (p.Thr1556=) | |
11 | g.121145722C>T | CA477382816 | TBCEL-TECTA,TECTA | c.3711C>T (p.Thr1237=) c.1018C>T n.276C>T c.4668C>T (p.Thr1556=) | |
11 | g.121145723T>A | CA383021941 | TBCEL-TECTA,TECTA | c.3712T>A (p.Tyr1238Asn) c.1019T>A n.277T>A c.4669T>A (p.Tyr1557Asn) | |
11 | g.121145723T>C | CA383021944 | TBCEL-TECTA,TECTA | c.3712T>C (p.Tyr1238His) c.1019T>C n.277T>C c.4669T>C (p.Tyr1557His) | |
11 | g.121145723T>G | CA383021947 | TBCEL-TECTA,TECTA | c.3712T>G (p.Tyr1238Asp) c.1019T>G n.277T>G c.4669T>G (p.Tyr1557Asp) | |
11 | g.121145724A= | CA2004737508 | TBCEL-TECTA,TECTA | c.3713A= (p.Tyr1238=) c.1020A= n.278A= c.4670A= (p.Tyr1557=) | |
11 | g.121145724A>C | CA383021950 | TBCEL-TECTA,TECTA | c.3713A>C (p.Tyr1238Ser) c.1020A>C n.278A>C c.4670A>C (p.Tyr1557Ser) | |
11 | g.121145724A>G | CA6327274 | TBCEL-TECTA,TECTA | c.3713A>G (p.Tyr1238Cys) c.1020A>G n.278A>G c.4670A>G (p.Tyr1557Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121145724A>T | CA383021956 | TBCEL-TECTA,TECTA | c.3713A>T (p.Tyr1238Phe) c.1020A>T n.278A>T c.4670A>T (p.Tyr1557Phe) | |
11 | g.121145725T>A | CA383021959 | TBCEL-TECTA,TECTA | c.3714T>A (p.Tyr1238Ter) c.1021T>A n.279T>A c.4671T>A (p.Tyr1557Ter) | |
11 | g.121145725T>C | CA6327275 | TBCEL-TECTA,TECTA | c.3714T>C (p.Tyr1238=) c.1021T>C n.279T>C c.4671T>C (p.Tyr1557=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121145725T>G | CA383021962 | TBCEL-TECTA,TECTA | c.3714T>G (p.Tyr1238Ter) c.1021T>G n.279T>G c.4671T>G (p.Tyr1557Ter) | |
11 | g.121145725T= | CA2004737509 | TBCEL-TECTA,TECTA | c.3714T= (p.Tyr1238=) c.1021T= n.279T= c.4671T= (p.Tyr1557=) | |
11 | g.121145726G>A | CA383021968 | TBCEL-TECTA,TECTA | c.3715G>A (p.Gly1239Ser) c.1022G>A n.280G>A c.4672G>A (p.Gly1558Ser) | |
11 | g.121145726G>C | CA383021969 | TBCEL-TECTA,TECTA | c.3715G>C (p.Gly1239Arg) c.1022G>C n.280G>C c.4672G>C (p.Gly1558Arg) | |
11 | g.121145726G>T | CA383021973 | TBCEL-TECTA,TECTA | c.3715G>T (p.Gly1239Cys) c.1022G>T n.280G>T c.4672G>T (p.Gly1558Cys) | |
11 | g.121145727G>A | CA383021976 | TBCEL-TECTA,TECTA | c.3716G>A (p.Gly1239Asp) c.1023G>A n.281G>A c.4673G>A (p.Gly1558Asp) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.121145727G>C | CA383021979 | TBCEL-TECTA,TECTA | c.3716G>C (p.Gly1239Ala) c.1023G>C n.281G>C c.4673G>C (p.Gly1558Ala) | |
11 | g.121145727G= | CA2004737510 | TBCEL-TECTA,TECTA | c.3716G= (p.Gly1239=) c.1023G= n.281G= c.4673G= (p.Gly1558=) | |
11 | g.121145727G>T | CA383021981 | TBCEL-TECTA,TECTA | c.3716G>T (p.Gly1239Val) c.1023G>T n.281G>T c.4673G>T (p.Gly1558Val) | |
11 | g.121145728T>A | CA477382821 | TBCEL-TECTA,TECTA | c.3717T>A (p.Gly1239=) c.1024T>A n.282T>A c.4674T>A (p.Gly1558=) | |
11 | g.121145728T>C | CA477382822 | TBCEL-TECTA,TECTA | c.3717T>C (p.Gly1239=) c.1024T>C n.282T>C c.4674T>C (p.Gly1558=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.121145728T>G | CA477382823 | TBCEL-TECTA,TECTA | c.3717T>G (p.Gly1239=) c.1024T>G n.282T>G c.4674T>G (p.Gly1558=) | |
11 | g.121145728T= | CA2004737511 | TBCEL-TECTA,TECTA | c.3717T= (p.Gly1239=) c.1024T= n.282T= c.4674T= (p.Gly1558=) | |
11 | g.121145729C>A | CA383021985 | TBCEL-TECTA,TECTA | c.3718C>A (p.Leu1240Met) c.1025C>A n.283C>A c.4675C>A (p.Leu1559Met) | |
11 | g.121145729C= | CA2004737512 | TBCEL-TECTA,TECTA | c.3718C= (p.Leu1240=) c.1025C= n.283C= c.4675C= (p.Leu1559=) | |
11 | g.121145729C>G | CA229831290 | TBCEL-TECTA,TECTA | c.3718C>G (p.Leu1240Val) c.1025C>G n.283C>G c.4675C>G (p.Leu1559Val) | dbSNP |
11 | g.121145729C>T | CA477382826 | TBCEL-TECTA,TECTA | c.3718C>T (p.Leu1240=) c.1025C>T n.283C>T c.4675C>T (p.Leu1559=) | |
11 | g.121145730T>A | CA383021991 | TBCEL-TECTA,TECTA | c.3719T>A (p.Leu1240Gln) c.1026T>A n.284T>A c.4676T>A (p.Leu1559Gln) | |
11 | g.121145730T>C | CA383021993 | TBCEL-TECTA,TECTA | c.3719T>C (p.Leu1240Pro) c.1026T>C n.284T>C c.4676T>C (p.Leu1559Pro) | |
11 | g.121145730T>G | CA383021997 | TBCEL-TECTA,TECTA | c.3719T>G (p.Leu1240Arg) c.1026T>G n.284T>G c.4676T>G (p.Leu1559Arg) | |
11 | g.121145731G>A | CA477382828 | TBCEL-TECTA,TECTA | c.3720G>A (p.Leu1240=) c.1027G>A n.285G>A c.4677G>A (p.Leu1559=) | |
11 | g.121145731G>C | CA477382829 | TBCEL-TECTA,TECTA | c.3720G>C (p.Leu1240=) c.1027G>C n.285G>C c.4677G>C (p.Leu1559=) | |
11 | g.121145731G>T | CA477382830 | TBCEL-TECTA,TECTA | c.3720G>T (p.Leu1240=) c.1027G>T n.285G>T c.4677G>T (p.Leu1559=) | |
11 | g.121145732T>A | CA383022000 | TBCEL-TECTA,TECTA | c.3721T>A (p.Cys1241Ser) c.1028T>A n.286T>A c.4678T>A (p.Cys1560Ser) | |
11 | g.121145732T>C | CA383022006 | TBCEL-TECTA,TECTA | c.3721T>C (p.Cys1241Arg) c.1028T>C n.286T>C c.4678T>C (p.Cys1560Arg) | |
11 | g.121145732T>G | CA383022002 | TBCEL-TECTA,TECTA | c.3721T>G (p.Cys1241Gly) c.1028T>G n.286T>G c.4678T>G (p.Cys1560Gly) | dbSNP |
11 | g.121145732T= | CA2004737513 | TBCEL-TECTA,TECTA | c.3721T= (p.Cys1241=) c.1028T= n.286T= c.4678T= (p.Cys1560=) | |
11 | g.121145733G>A | CA6327276 | TBCEL-TECTA,TECTA | c.3722G>A (p.Cys1241Tyr) c.1029G>A n.287G>A c.4679G>A (p.Cys1560Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121145733G>C | CA383022016 | TBCEL-TECTA,TECTA | c.3722G>C (p.Cys1241Ser) c.1029G>C n.287G>C c.4679G>C (p.Cys1560Ser) | |
11 | g.121145733G= | CA2004737514 | TBCEL-TECTA,TECTA | c.3722G= (p.Cys1241=) c.1029G= n.287G= c.4679G= (p.Cys1560=) | |
11 | g.121145733G>T | CA383022018 | TBCEL-TECTA,TECTA | c.3722G>T (p.Cys1241Phe) c.1029G>T n.287G>T c.4679G>T (p.Cys1560Phe) | |
11 | g.121145734T>A | CA383022020 | TBCEL-TECTA,TECTA | c.3723T>A (p.Cys1241Ter) c.1030T>A n.288T>A c.4680T>A (p.Cys1560Ter) | |
11 | g.121145734T>C | CA477382832 | TBCEL-TECTA,TECTA | c.3723T>C (p.Cys1241=) c.1030T>C n.288T>C c.4680T>C (p.Cys1560=) | |
11 | g.121145734T>G | CA383022022 | TBCEL-TECTA,TECTA | c.3723T>G (p.Cys1241Trp) c.1030T>G n.288T>G c.4680T>G (p.Cys1560Trp) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.121145734T= | CA2004737515 | TBCEL-TECTA,TECTA | c.3723T= (p.Cys1241=) c.1030T= n.288T= c.4680T= (p.Cys1560=) | |
11 | g.121145735G>A | CA383022028 | TBCEL-TECTA,TECTA | c.3724G>A (p.Gly1242Ser) c.1031G>A n.289G>A c.4681G>A (p.Gly1561Ser) | COSMIC |
11 | g.121145735G>C | CA383022030 | TBCEL-TECTA,TECTA | c.3724G>C (p.Gly1242Arg) c.1031G>C n.289G>C c.4681G>C (p.Gly1561Arg) | |
11 | g.121145735G>T | CA383022034 | TBCEL-TECTA,TECTA | c.3724G>T (p.Gly1242Cys) c.1031G>T n.289G>T c.4681G>T (p.Gly1561Cys) | |
11 | g.121145736G>A | CA383022035 | TBCEL-TECTA,TECTA | c.3725G>A (p.Gly1242Asp) c.1032G>A n.290G>A c.4682G>A (p.Gly1561Asp) | gnomAD v4 |
11 | g.121145736G>C | CA6327277 | TBCEL-TECTA,TECTA | c.3725G>C (p.Gly1242Ala) c.1032G>C n.290G>C c.4682G>C (p.Gly1561Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121145736G= | CA2004737516 | TBCEL-TECTA,TECTA | c.3725G= (p.Gly1242=) c.1032G= n.290G= c.4682G= (p.Gly1561=) | |
11 | g.121145736G>T | CA383022038 | TBCEL-TECTA,TECTA | c.3725G>T (p.Gly1242Val) c.1032G>T n.290G>T c.4682G>T (p.Gly1561Val) | |
11 | g.121145737C>A | CA477382836 | TBCEL-TECTA,TECTA | c.3726C>A (p.Gly1242=) c.1033C>A n.291C>A c.4683C>A (p.Gly1561=) | |
11 | g.121145737C>G | CA477382838 | TBCEL-TECTA,TECTA | c.3726C>G (p.Gly1242=) c.1033C>G n.291C>G c.4683C>G (p.Gly1561=) | |
11 | g.121145737C>T | CA477382837 | TBCEL-TECTA,TECTA | c.3726C>T (p.Gly1242=) c.1033C>T n.291C>T c.4683C>T (p.Gly1561=) | |
11 | g.121145738C>A | CA383022047 | TBCEL-TECTA,TECTA | c.3727C>A (p.Arg1243Ser) c.1034C>A n.292C>A c.4684C>A (p.Arg1562Ser) | |
11 | g.121145738C= | CA2004737517 | TBCEL-TECTA,TECTA | c.3727C= (p.Arg1243=) c.1034C= n.292C= c.4684C= (p.Arg1562=) | |
11 | g.121145738C>G | CA383022042 | TBCEL-TECTA,TECTA | c.3727C>G (p.Arg1243Gly) c.1034C>G n.292C>G c.4684C>G (p.Arg1562Gly) | |
11 | g.121145738C>T | CA6327278 | TBCEL-TECTA,TECTA | c.3727C>T (p.Arg1243Cys) c.1034C>T n.292C>T c.4684C>T (p.Arg1562Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.121145739G>A | CA6327279 | TBCEL-TECTA,TECTA | c.3728G>A (p.Arg1243His) c.1035G>A n.293G>A c.4685G>A (p.Arg1562His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.121145739G>C | CA383022052 | TBCEL-TECTA,TECTA | c.3728G>C (p.Arg1243Pro) c.1035G>C n.293G>C c.4685G>C (p.Arg1562Pro) | |
11 | g.121145739G= | CA2004737518 | TBCEL-TECTA,TECTA | c.3728G= (p.Arg1243=) c.1035G= n.293G= c.4685G= (p.Arg1562=) | |
11 | g.121145739G>T | CA383022055 | TBCEL-TECTA,TECTA | c.3728G>T (p.Arg1243Leu) c.1035G>T n.293G>T c.4685G>T (p.Arg1562Leu) | |
11 | g.121145740C>A | CA477382840 | TBCEL-TECTA,TECTA | c.3729C>A (p.Arg1243=) c.1036C>A n.294C>A c.4686C>A (p.Arg1562=) | |
11 | g.121145740C>G | CA477382842 | TBCEL-TECTA,TECTA | c.3729C>G (p.Arg1243=) c.1036C>G n.294C>G c.4686C>G (p.Arg1562=) | |
11 | g.121145740C>T | CA477382844 | TBCEL-TECTA,TECTA | c.3729C>T (p.Arg1243=) c.1036C>T n.294C>T c.4686C>T (p.Arg1562=) | |
11 | g.121145741T>A | CA383022058 | TBCEL-TECTA,TECTA | c.3730T>A (p.Tyr1244Asn) c.1037T>A n.295T>A c.4687T>A (p.Tyr1563Asn) | |
11 | g.121145741T>C | CA383022061 | TBCEL-TECTA,TECTA | c.3730T>C (p.Tyr1244His) c.1037T>C n.295T>C c.4687T>C (p.Tyr1563His) | |
11 | g.121145741T>G | CA383022062 | TBCEL-TECTA,TECTA | c.3730T>G (p.Tyr1244Asp) c.1037T>G n.295T>G c.4687T>G (p.Tyr1563Asp) | gnomAD v4 |
11 | g.121145742A= | CA2004737519 | TBCEL-TECTA,TECTA | c.3731A= (p.Tyr1244=) c.1038A= n.296A= c.4688A= (p.Tyr1563=) | |
11 | g.121145742A>C | CA383022067 | TBCEL-TECTA,TECTA | c.3731A>C (p.Tyr1244Ser) c.1038A>C n.296A>C c.4688A>C (p.Tyr1563Ser) | |
11 | g.121145742A>G | CA383022070 | TBCEL-TECTA,TECTA | c.3731A>G (p.Tyr1244Cys) c.1038A>G n.296A>G c.4688A>G (p.Tyr1563Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.121145742A>T | CA383022074 | TBCEL-TECTA,TECTA | c.3731A>T (p.Tyr1244Phe) c.1038A>T n.296A>T c.4688A>T (p.Tyr1563Phe) | |
11 | g.121145743C>A | CA383022076 | TBCEL-TECTA,TECTA | c.3732C>A (p.Tyr1244Ter) c.1039C>A n.297C>A c.4689C>A (p.Tyr1563Ter) | |
11 | g.121145743C= | CA2004737520 | TBCEL-TECTA,TECTA | c.3732C= (p.Tyr1244=) c.1039C= n.297C= c.4689C= (p.Tyr1563=) | |
11 | g.121145743C>G | CA383022081 | TBCEL-TECTA,TECTA | c.3732C>G (p.Tyr1244Ter) c.1039C>G n.297C>G c.4689C>G (p.Tyr1563Ter) | |
11 | g.121145743C>T | CA477382846 | TBCEL-TECTA,TECTA | c.3732C>T (p.Tyr1244=) c.1039C>T n.297C>T c.4689C>T (p.Tyr1563=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.121145744A>C | CA383022088 | TBCEL-TECTA,TECTA | c.3733A>C (p.Asn1245His) c.1040A>C n.298A>C c.4690A>C (p.Asn1564His) | |
11 | g.121145744A>G | CA383022090 | TBCEL-TECTA,TECTA | c.3733A>G (p.Asn1245Asp) c.1040A>G n.298A>G c.4690A>G (p.Asn1564Asp) | |
11 | g.121145744A>T | CA383022084 | TBCEL-TECTA,TECTA | c.3733A>T (p.Asn1245Tyr) c.1040A>T n.298A>T c.4690A>T (p.Asn1564Tyr) | |
11 | g.121145745A= | CA2004737521 | TBCEL-TECTA,TECTA | c.3734A= (p.Asn1245=) c.1041A= n.299A= c.4691A= (p.Asn1564=) | |
11 | g.121145745A>C | CA383022095 | TBCEL-TECTA,TECTA | c.3734A>C (p.Asn1245Thr) c.1041A>C n.299A>C c.4691A>C (p.Asn1564Thr) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.121145745A>G | CA6327280 | TBCEL-TECTA,TECTA | c.3734A>G (p.Asn1245Ser) c.1041A>G n.299A>G c.4691A>G (p.Asn1564Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121145745A>T | CA383022097 | TBCEL-TECTA,TECTA | c.3734A>T (p.Asn1245Ile) c.1041A>T n.299A>T c.4691A>T (p.Asn1564Ile) | |
11 | g.121145746C>A | CA383022101 | TBCEL-TECTA,TECTA | c.3735C>A (p.Asn1245Lys) c.1042C>A n.300C>A c.4692C>A (p.Asn1564Lys) | |
11 | g.121145746C= | CA2004737522 | TBCEL-TECTA,TECTA | c.3735C= (p.Asn1245=) c.1042C= n.300C= c.4692C= (p.Asn1564=) | |
11 | g.121145746C>G | CA383022104 | TBCEL-TECTA,TECTA | c.3735C>G (p.Asn1245Lys) c.1042C>G n.300C>G c.4692C>G (p.Asn1564Lys) | gnomAD v4 |
11 | g.121145746C>T | CA6327281 | TBCEL-TECTA,TECTA | c.3735C>T (p.Asn1245=) c.1042C>T n.300C>T c.4692C>T (p.Asn1564=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121145747G>A | CA6327282 | TBCEL-TECTA,TECTA | c.3736G>A (p.Gly1246Ser) c.1043G>A n.301G>A c.4693G>A (p.Gly1565Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121145747G>C | CA383022107 | TBCEL-TECTA,TECTA | c.3736G>C (p.Gly1246Arg) c.1043G>C n.301G>C c.4693G>C (p.Gly1565Arg) | |
11 | g.121145747G= | CA2004737523 | TBCEL-TECTA,TECTA | c.3736G= (p.Gly1246=) c.1043G= n.301G= c.4693G= (p.Gly1565=) | |
11 | g.121145747G>T | CA383022108 | TBCEL-TECTA,TECTA | c.3736G>T (p.Gly1246Cys) c.1043G>T n.301G>T c.4693G>T (p.Gly1565Cys) | |
11 | g.121145748G>A | CA383022109 | TBCEL-TECTA,TECTA | c.3737G>A (p.Gly1246Asp) c.1044G>A n.302G>A c.4694G>A (p.Gly1565Asp) | gnomAD v4 |
11 | g.121145748G>C | CA383022111 | TBCEL-TECTA,TECTA | c.3737G>C (p.Gly1246Ala) c.1044G>C n.302G>C c.4694G>C (p.Gly1565Ala) | |
11 | g.121145748G>T | CA383022113 | TBCEL-TECTA,TECTA | c.3737G>T (p.Gly1246Val) c.1044G>T n.302G>T c.4694G>T (p.Gly1565Val) | |
11 | g.121145749C>A | CA477382848 | TBCEL-TECTA,TECTA | c.3738C>A (p.Gly1246=) c.1045C>A n.303C>A c.4695C>A (p.Gly1565=) | |
11 | g.121145749C>G | CA477382849 | TBCEL-TECTA,TECTA | c.3738C>G (p.Gly1246=) c.1045C>G n.303C>G c.4695C>G (p.Gly1565=) | |
11 | g.121145749C>T | CA477382847 | TBCEL-TECTA,TECTA | c.3738C>T (p.Gly1246=) c.1045C>T n.303C>T c.4695C>T (p.Gly1565=) | |
11 | g.121145750A= | CA2004737524 | TBCEL-TECTA,TECTA | c.3739A= (p.Asn1247=) c.1046A= n.304A= c.4696A= (p.Asn1566=) | |
11 | g.121145750A>C | CA6327283 | TBCEL-TECTA,TECTA | c.3739A>C (p.Asn1247His) c.1046A>C n.304A>C c.4696A>C (p.Asn1566His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121145750A>G | CA383022122 | TBCEL-TECTA,TECTA | c.3739A>G (p.Asn1247Asp) c.1046A>G n.304A>G c.4696A>G (p.Asn1566Asp) | |
11 | g.121145750A>T | CA383022118 | TBCEL-TECTA,TECTA | c.3739A>T (p.Asn1247Tyr) c.1046A>T n.304A>T c.4696A>T (p.Asn1566Tyr) | |
11 | g.121145751A>C | CA383022127 | TBCEL-TECTA,TECTA | c.3740A>C (p.Asn1247Thr) c.1047A>C n.305A>C c.4697A>C (p.Asn1566Thr) | |
11 | g.121145751A>G | CA383022130 | TBCEL-TECTA,TECTA | c.3740A>G (p.Asn1247Ser) c.1047A>G n.305A>G c.4697A>G (p.Asn1566Ser) | |
11 | g.121145751A>T | CA383022131 | TBCEL-TECTA,TECTA | c.3740A>T (p.Asn1247Ile) c.1047A>T n.305A>T c.4697A>T (p.Asn1566Ile) | |
11 | g.121145751_121145752delinsAC | CA2004737525 | TBCEL-TECTA,TECTA | c.3740_3741delinsAC (p.Asn1247=) c.1047_1048delinsAC n.305_306delinsAC c.4697_4698delinsAC (p.Asn1566=) | |
11 | g.121145752C>A | CA383022132 | TBCEL-TECTA,TECTA | c.3741C>A (p.Asn1247Lys) c.1048C>A n.306C>A c.4698C>A (p.Asn1566Lys) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.121145752C= | CA2004737526 | TBCEL-TECTA,TECTA | c.3741C= (p.Asn1247=) c.1048C= n.306C= c.4698C= (p.Asn1566=) | |
11 | g.121145752C>G | CA383022133 | TBCEL-TECTA,TECTA | c.3741C>G (p.Asn1247Lys) c.1048C>G n.306C>G c.4698C>G (p.Asn1566Lys) | dbSNP |
11 | g.121145752C>T | CA477382850 | TBCEL-TECTA,TECTA | c.3741C>T (p.Asn1247=) c.1048C>T n.306C>T c.4698C>T (p.Asn1566=) | |
11 | g.121145754del | CA477382851 | TBCEL-TECTA,TECTA | c.3743del (p.Pro1248LeufsTer24) c.1050del n.308del c.4700del (p.Pro1567LeufsTer24) | dbSNP gnomAD v4 |
11 | g.121145753C>A | CA383022136 | TBCEL-TECTA,TECTA | c.3742C>A (p.Pro1248Thr) c.1049C>A n.307C>A c.4699C>A (p.Pro1567Thr) | |
11 | g.121145753C= | CA2004737527 | TBCEL-TECTA,TECTA | c.3742C= (p.Pro1248=) c.1049C= n.307C= c.4699C= (p.Pro1567=) | |
11 | g.121145753C>G | CA383022137 | TBCEL-TECTA,TECTA | c.3742C>G (p.Pro1248Ala) c.1049C>G n.307C>G c.4699C>G (p.Pro1567Ala) | |
11 | g.121145753C>T | CA6327284 | TBCEL-TECTA,TECTA | c.3742C>T (p.Pro1248Ser) c.1049C>T n.307C>T c.4699C>T (p.Pro1567Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121145754C>A | CA383022144 | TBCEL-TECTA,TECTA | c.3743C>A (p.Pro1248His) c.1050C>A n.308C>A c.4700C>A (p.Pro1567His) | |
11 | g.121145754C= | CA2004737528 | TBCEL-TECTA,TECTA | c.3743C= (p.Pro1248=) c.1050C= n.308C= c.4700C= (p.Pro1567=) | |
11 | g.121145754C>G | CA383022146 | TBCEL-TECTA,TECTA | c.3743C>G (p.Pro1248Arg) c.1050C>G n.308C>G c.4700C>G (p.Pro1567Arg) | |
11 | g.121145754C>T | CA6327285 | TBCEL-TECTA,TECTA | c.3743C>T (p.Pro1248Leu) c.1050C>T n.308C>T c.4700C>T (p.Pro1567Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121145755T>A | CA477382852 | TBCEL-TECTA,TECTA | c.3744T>A (p.Pro1248=) c.1051T>A n.309T>A c.4701T>A (p.Pro1567=) | |
11 | g.121145755T>C | CA477382853 | TBCEL-TECTA,TECTA | c.3744T>C (p.Pro1248=) c.1051T>C n.309T>C c.4701T>C (p.Pro1567=) | |
11 | g.121145755T>G | CA477382854 | TBCEL-TECTA,TECTA | c.3744T>G (p.Pro1248=) c.1051T>G n.309T>G c.4701T>G (p.Pro1567=) | |
11 | g.121145756G>A | CA383022152 | TBCEL-TECTA,TECTA | c.3745G>A (p.Asp1249Asn) c.1052G>A n.310G>A c.4702G>A (p.Asp1568Asn) | gnomAD v4 |
11 | g.121145756G>C | CA383022155 | TBCEL-TECTA,TECTA | c.3745G>C (p.Asp1249His) c.1052G>C n.310G>C c.4702G>C (p.Asp1568His) | |
11 | g.121145756G>T | CA383022156 | TBCEL-TECTA,TECTA | c.3745G>T (p.Asp1249Tyr) c.1052G>T n.310G>T c.4702G>T (p.Asp1568Tyr) | |
11 | g.121145757A>C | CA383022163 | TBCEL-TECTA,TECTA | c.3746A>C (p.Asp1249Ala) c.1053A>C n.311A>C c.4703A>C (p.Asp1568Ala) | |
11 | g.121145757A>G | CA383022165 | TBCEL-TECTA,TECTA | c.3746A>G (p.Asp1249Gly) c.1053A>G n.311A>G c.4703A>G (p.Asp1568Gly) | |
11 | g.121145757A>T | CA383022160 | TBCEL-TECTA,TECTA | c.3746A>T (p.Asp1249Val) c.1053A>T n.311A>T c.4703A>T (p.Asp1568Val) | gnomAD v4 |
11 | g.121145758T>A | CA383022169 | TBCEL-TECTA,TECTA | c.3747T>A (p.Asp1249Glu) c.1054T>A n.312T>A c.4704T>A (p.Asp1568Glu) | |
11 | g.121145758T>C | CA477382855 | TBCEL-TECTA,TECTA | c.3747T>C (p.Asp1249=) c.1054T>C n.312T>C c.4704T>C (p.Asp1568=) | gnomAD v4 |
11 | g.121145758T>G | CA383022171 | TBCEL-TECTA,TECTA | c.3747T>G (p.Asp1249Glu) c.1054T>G n.312T>G c.4704T>G (p.Asp1568Glu) | |
11 | g.121145759G>A | CA383022176 | TBCEL-TECTA,TECTA | c.3748G>A (p.Asp1250Asn) c.1055G>A n.313G>A c.4705G>A (p.Asp1569Asn) | |
11 | g.121145759G>C | CA6327286 | TBCEL-TECTA,TECTA | c.3748G>C (p.Asp1250His) c.1055G>C n.313G>C c.4705G>C (p.Asp1569His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121145759G= | CA2004737529 | TBCEL-TECTA,TECTA | c.3748G= (p.Asp1250=) c.1055G= n.313G= c.4705G= (p.Asp1569=) | |
11 | g.121145759G>T | CA383022179 | TBCEL-TECTA,TECTA | c.3748G>T (p.Asp1250Tyr) c.1055G>T n.313G>T c.4705G>T (p.Asp1569Tyr) | gnomAD v4 |
11 | g.121145760A>C | CA383022188 | TBCEL-TECTA,TECTA | c.3749A>C (p.Asp1250Ala) c.1056A>C n.314A>C c.4706A>C (p.Asp1569Ala) | |
11 | g.121145760A>G | CA383022185 | TBCEL-TECTA,TECTA | c.3749A>G (p.Asp1250Gly) c.1056A>G n.314A>G c.4706A>G (p.Asp1569Gly) | |
11 | g.121145760A>T | CA383022183 | TBCEL-TECTA,TECTA | c.3749A>T (p.Asp1250Val) c.1056A>T n.314A>T c.4706A>T (p.Asp1569Val) | |
11 | g.121145761T>A | CA383022189 | TBCEL-TECTA,TECTA | c.3750T>A (p.Asp1250Glu) c.1057T>A n.315T>A c.4707T>A (p.Asp1569Glu) | gnomAD v4 |
11 | g.121145761T>C | CA6327287 | TBCEL-TECTA,TECTA | c.3750T>C (p.Asp1250=) c.1057T>C n.315T>C c.4707T>C (p.Asp1569=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121145761T>G | CA383022190 | TBCEL-TECTA,TECTA | c.3750T>G (p.Asp1250Glu) c.1057T>G n.315T>G c.4707T>G (p.Asp1569Glu) | |
11 | g.121145761T= | CA2004737530 | TBCEL-TECTA,TECTA | c.3750T= (p.Asp1250=) c.1057T= n.315T= c.4707T= (p.Asp1569=) | |
11 | g.121145762G>A | CA383022191 | TBCEL-TECTA,TECTA | c.3751G>A (p.Asp1251Asn) c.1058G>A n.316G>A c.4708G>A (p.Asp1570Asn) | |
11 | g.121145762G>C | CA383022192 | TBCEL-TECTA,TECTA | c.3751G>C (p.Asp1251His) c.1058G>C n.316G>C c.4708G>C (p.Asp1570His) | |
11 | g.121145762G>T | CA383022193 | TBCEL-TECTA,TECTA | c.3751G>T (p.Asp1251Tyr) c.1058G>T n.316G>T c.4708G>T (p.Asp1570Tyr) | |
11 | g.121145763A>C | CA383022195 | TBCEL-TECTA,TECTA | c.3752A>C (p.Asp1251Ala) c.1059A>C n.317A>C c.4709A>C (p.Asp1570Ala) | |
11 | g.121145763A>G | CA383022202 | TBCEL-TECTA,TECTA | c.3752A>G (p.Asp1251Gly) c.1059A>G n.317A>G c.4709A>G (p.Asp1570Gly) | COSMIC |
11 | g.121145763A>T | CA383022197 | TBCEL-TECTA,TECTA | c.3752A>T (p.Asp1251Val) c.1059A>T n.317A>T c.4709A>T (p.Asp1570Val) | gnomAD v4 |
11 | g.121145764C>A | CA383022205 | TBCEL-TECTA,TECTA | c.3753C>A (p.Asp1251Glu) c.1060C>A n.318C>A c.4710C>A (p.Asp1570Glu) | |
11 | g.121145764C= | CA2004737531 | TBCEL-TECTA,TECTA | c.3753C= (p.Asp1251=) c.1060C= n.318C= c.4710C= (p.Asp1570=) | |
11 | g.121145764C>G | CA383022208 | TBCEL-TECTA,TECTA | c.3753C>G (p.Asp1251Glu) c.1060C>G n.318C>G c.4710C>G (p.Asp1570Glu) | |
11 | g.121145764C>T | CA477382856 | TBCEL-TECTA,TECTA | c.3753C>T (p.Asp1251=) c.1060C>T n.318C>T c.4710C>T (p.Asp1570=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.121145765C>A | CA383022211 | TBCEL-TECTA,TECTA | c.3754C>A (p.Leu1252Met) c.1061C>A n.319C>A c.4711C>A (p.Leu1571Met) | |
11 | g.121145765C>G | CA383022212 | TBCEL-TECTA,TECTA | c.3754C>G (p.Leu1252Val) c.1061C>G n.319C>G c.4711C>G (p.Leu1571Val) | |
11 | g.121145765C>T | CA477382857 | TBCEL-TECTA,TECTA | c.3754C>T (p.Leu1252=) c.1061C>T n.319C>T c.4711C>T (p.Leu1571=) | |
11 | g.121145766T>A | CA383022213 | TBCEL-TECTA,TECTA | c.3755T>A (p.Leu1252Gln) c.1062T>A n.320T>A c.4712T>A (p.Leu1571Gln) | gnomAD v4 |
11 | g.121145766T>C | CA383022214 | TBCEL-TECTA,TECTA | c.3755T>C (p.Leu1252Pro) c.1062T>C n.320T>C c.4712T>C (p.Leu1571Pro) | gnomAD v4 |
11 | g.121145766T>G | CA383022215 | TBCEL-TECTA,TECTA | c.3755T>G (p.Leu1252Arg) c.1062T>G n.320T>G c.4712T>G (p.Leu1571Arg) | |
11 | g.121145767G>A | CA477382858 | TBCEL-TECTA,TECTA | c.3756G>A (p.Leu1252=) c.1063G>A n.321G>A c.4713G>A (p.Leu1571=) | |
11 | g.121145767G>C | CA477382859 | TBCEL-TECTA,TECTA | c.3756G>C (p.Leu1252=) c.1063G>C n.321G>C c.4713G>C (p.Leu1571=) | |
11 | g.121145767G>T | CA477382860 | TBCEL-TECTA,TECTA | c.3756G>T (p.Leu1252=) c.1063G>T n.321G>T c.4713G>T (p.Leu1571=) | |
11 | g.121145768G>A | CA383022216 | TBCEL-TECTA,TECTA | c.3757G>A (p.Glu1253Lys) c.1064G>A n.322G>A c.4714G>A (p.Glu1572Lys) | |
11 | g.121145768G>C | CA383022218 | TBCEL-TECTA,TECTA | c.3757G>C (p.Glu1253Gln) c.1064G>C n.322G>C c.4714G>C (p.Glu1572Gln) | COSMIC |
11 | g.121145768G>T | CA383022221 | TBCEL-TECTA,TECTA | c.3757G>T (p.Glu1253Ter) c.1064G>T n.322G>T c.4714G>T (p.Glu1572Ter) | |
11 | g.121145769A>C | CA383022234 | TBCEL-TECTA,TECTA | c.3758A>C (p.Glu1253Ala) c.1065A>C n.323A>C c.4715A>C (p.Glu1572Ala) | |
11 | g.121145769A>G | CA383022230 | TBCEL-TECTA,TECTA | c.3758A>G (p.Glu1253Gly) c.1065A>G n.323A>G c.4715A>G (p.Glu1572Gly) | |
11 | g.121145769A>T | CA383022228 | TBCEL-TECTA,TECTA | c.3758A>T (p.Glu1253Val) c.1065A>T n.323A>T c.4715A>T (p.Glu1572Val) | |
11 | g.121145770G>A | CA477382861 | TBCEL-TECTA,TECTA | c.3759G>A (p.Glu1253=) c.1066G>A n.324G>A c.4716G>A (p.Glu1572=) | |
11 | g.121145770G>C | CA383022237 | TBCEL-TECTA,TECTA | c.3759G>C (p.Glu1253Asp) c.1066G>C n.324G>C c.4716G>C (p.Glu1572Asp) | |
11 | g.121145770G>T | CA383022240 | TBCEL-TECTA,TECTA | c.3759G>T (p.Glu1253Asp) c.1066G>T n.324G>T c.4716G>T (p.Glu1572Asp) | COSMIC |
11 | g.121145771A= | CA2004737532 | TBCEL-TECTA,TECTA | c.3760A= (p.Met1254=) c.1067A= n.325A= c.4717A= (p.Met1573=) | |
11 | g.121145771A>C | CA383022246 | TBCEL-TECTA,TECTA | c.3760A>C (p.Met1254Leu) c.1067A>C n.325A>C c.4717A>C (p.Met1573Leu) | gnomAD v4 |
11 | g.121145771A>G | CA10637529 | TBCEL-TECTA,TECTA | c.3760A>G (p.Met1254Val) c.1067A>G n.325A>G c.4717A>G (p.Met1573Val) | ClinVar dbSNP |
11 | g.121145771A>T | CA383022248 | TBCEL-TECTA,TECTA | c.3760A>T (p.Met1254Leu) c.1067A>T n.325A>T c.4717A>T (p.Met1573Leu) | |
11 | g.121145772T>A | CA383022252 | TBCEL-TECTA,TECTA | c.3761T>A (p.Met1254Lys) c.1068T>A n.326T>A c.4718T>A (p.Met1573Lys) | |
11 | g.121145772T>C | CA383022254 | TBCEL-TECTA,TECTA | c.3761T>C (p.Met1254Thr) c.1068T>C n.326T>C c.4718T>C (p.Met1573Thr) | gnomAD v4 |
11 | g.121145772T>G | CA383022257 | TBCEL-TECTA,TECTA | c.3761T>G (p.Met1254Arg) c.1068T>G n.326T>G c.4718T>G (p.Met1573Arg) | |
11 | g.121145773G>A | CA10638056 | TBCEL-TECTA,TECTA | c.3762G>A (p.Met1254Ile) c.1069G>A n.327G>A c.4719G>A (p.Met1573Ile) | ClinVar dbSNP |
11 | g.121145773G>C | CA383022264 | TBCEL-TECTA,TECTA | c.3762G>C (p.Met1254Ile) c.1069G>C n.327G>C c.4719G>C (p.Met1573Ile) | |
11 | g.121145773G= | CA2004737533 | TBCEL-TECTA,TECTA | c.3762G= (p.Met1254=) c.1069G= n.327G= c.4719G= (p.Met1573=) | |
11 | g.121145773G>T | CA383022271 | TBCEL-TECTA,TECTA | c.3762G>T (p.Met1254Ile) c.1069G>T n.327G>T c.4719G>T (p.Met1573Ile) | |
11 | g.121145774C>A | CA383022273 | TBCEL-TECTA,TECTA | c.3763C>A (p.Pro1255Thr) c.1070C>A n.328C>A c.4720C>A (p.Pro1574Thr) | |
11 | g.121145774C= | CA2004737534 | TBCEL-TECTA,TECTA | c.3763C= (p.Pro1255=) c.1070C= n.328C= c.4720C= (p.Pro1574=) | |
11 | g.121145774C>G | CA383022275 | TBCEL-TECTA,TECTA | c.3763C>G (p.Pro1255Ala) c.1070C>G n.328C>G c.4720C>G (p.Pro1574Ala) | |
11 | g.121145774C>T | CA383022277 | TBCEL-TECTA,TECTA | c.3763C>T (p.Pro1255Ser) c.1070C>T n.328C>T c.4720C>T (p.Pro1574Ser) | dbSNP gnomAD v2 |
11 | g.121145775C>A | CA383022280 | TBCEL-TECTA,TECTA | c.3764C>A (p.Pro1255His) c.1071C>A n.329C>A c.4721C>A (p.Pro1574His) | |
11 | g.121145775C>G | CA383022283 | TBCEL-TECTA,TECTA | c.3764C>G (p.Pro1255Arg) c.1071C>G n.329C>G c.4721C>G (p.Pro1574Arg) | |
11 | g.121145775C>T | CA383022287 | TBCEL-TECTA,TECTA | c.3764C>T (p.Pro1255Leu) c.1071C>T n.329C>T c.4721C>T (p.Pro1574Leu) | gnomAD v4 |
11 | g.121145776C>A | CA477382862 | TBCEL-TECTA,TECTA | c.3765C>A (p.Pro1255=) c.1072C>A n.330C>A c.4722C>A (p.Pro1574=) | |
11 | g.121145776C>G | CA477382863 | TBCEL-TECTA,TECTA | c.3765C>G (p.Pro1255=) c.1072C>G n.330C>G c.4722C>G (p.Pro1574=) | |
11 | g.121145776C>T | CA477382864 | TBCEL-TECTA,TECTA | c.3765C>T (p.Pro1255=) c.1072C>T n.330C>T c.4722C>T (p.Pro1574=) | |
11 | g.121145777A= | CA2004737535 | TBCEL-TECTA,TECTA | c.3766A= (p.Met1256=) c.1073A= n.331A= c.4723A= (p.Met1575=) | |
11 | g.121145777A>C | CA383022295 | TBCEL-TECTA,TECTA | c.3766A>C (p.Met1256Leu) c.1073A>C n.331A>C c.4723A>C (p.Met1575Leu) | |
11 | g.121145777A>G | CA229831455 | TBCEL-TECTA,TECTA | c.3766A>G (p.Met1256Val) c.1073A>G n.331A>G c.4723A>G (p.Met1575Val) | dbSNP gnomAD v4 |
11 | g.121145777A>T | CA383022293 | TBCEL-TECTA,TECTA | c.3766A>T (p.Met1256Leu) c.1073A>T n.331A>T c.4723A>T (p.Met1575Leu) | |
11 | g.121145778T>A | CA383022297 | TBCEL-TECTA,TECTA | c.3767T>A (p.Met1256Lys) c.1074T>A n.332T>A c.4724T>A (p.Met1575Lys) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.121145778T>C | CA383022298 | TBCEL-TECTA,TECTA | c.3767T>C (p.Met1256Thr) c.1074T>C n.332T>C c.4724T>C (p.Met1575Thr) | |
11 | g.121145778T>G | CA383022301 | TBCEL-TECTA,TECTA | c.3767T>G (p.Met1256Arg) c.1074T>G n.332T>G c.4724T>G (p.Met1575Arg) | |
11 | g.121145778T= | CA2004737536 | TBCEL-TECTA,TECTA | c.3767T= (p.Met1256=) c.1074T= n.332T= c.4724T= (p.Met1575=) | |
11 | g.121145779G>A | CA383022304 | TBCEL-TECTA,TECTA | c.3768G>A (p.Met1256Ile) c.1075G>A n.333G>A c.4725G>A (p.Met1575Ile) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.121145779G>C | CA383022305 | TBCEL-TECTA,TECTA | c.3768G>C (p.Met1256Ile) c.1075G>C n.333G>C c.4725G>C (p.Met1575Ile) | |
11 | g.121145779G= | CA2004737537 | TBCEL-TECTA,TECTA | c.3768G= (p.Met1256=) c.1075G= n.333G= c.4725G= (p.Met1575=) | |
11 | g.121145779G>T | CA383022306 | TBCEL-TECTA,TECTA | c.3768G>T (p.Met1256Ile) c.1075G>T n.333G>T c.4725G>T (p.Met1575Ile) | |
11 | g.121145780G>A | CA183103 | TBCEL-TECTA,TECTA | c.3769G>A (p.Gly1257Ser) c.1076G>A n.334G>A c.4726G>A (p.Gly1576Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121145780G>C | CA383022309 | TBCEL-TECTA,TECTA | c.3769G>C (p.Gly1257Arg) c.1076G>C n.334G>C c.4726G>C (p.Gly1576Arg) | |
11 | g.121145780G= | CA2004737538 | TBCEL-TECTA,TECTA | c.3769G= (p.Gly1257=) c.1076G= n.334G= c.4726G= (p.Gly1576=) | |
11 | g.121145780G>T | CA383022312 | TBCEL-TECTA,TECTA | c.3769G>T (p.Gly1257Cys) c.1076G>T n.334G>T c.4726G>T (p.Gly1576Cys) | |
11 | g.121145781G>A | CA383022316 | TBCEL-TECTA,TECTA | c.3770G>A (p.Gly1257Asp) c.1077G>A n.335G>A c.4727G>A (p.Gly1576Asp) | |
11 | g.121145781G>C | CA383022319 | TBCEL-TECTA,TECTA | c.3770G>C (p.Gly1257Ala) c.1077G>C n.335G>C c.4727G>C (p.Gly1576Ala) | |
11 | g.121145781G>T | CA383022323 | TBCEL-TECTA,TECTA | c.3770G>T (p.Gly1257Val) c.1077G>T n.335G>T c.4727G>T (p.Gly1576Val) | |
11 | g.121145782T>A | CA477382867 | TBCEL-TECTA,TECTA | c.3771T>A (p.Gly1257=) c.1078T>A n.336T>A c.4728T>A (p.Gly1576=) | |
11 | g.121145782T>C | CA477382865 | TBCEL-TECTA,TECTA | c.3771T>C (p.Gly1257=) c.1078T>C n.336T>C c.4728T>C (p.Gly1576=) | gnomAD v4 |
11 | g.121145782T>G | CA477382866 | TBCEL-TECTA,TECTA | c.3771T>G (p.Gly1257=) c.1078T>G n.336T>G c.4728T>G (p.Gly1576=) | |
11 | g.121145783C>A | CA383022325 | TBCEL-TECTA,TECTA | c.3772C>A (p.Leu1258Met) c.1079C>A n.337C>A c.4729C>A (p.Leu1577Met) | |
11 | g.121145783C>G | CA383022324 | TBCEL-TECTA,TECTA | c.3772C>G (p.Leu1258Val) c.1079C>G n.337C>G c.4729C>G (p.Leu1577Val) | |
11 | g.121145783C>T | CA477382868 | TBCEL-TECTA,TECTA | c.3772C>T (p.Leu1258=) c.1079C>T n.337C>T c.4729C>T (p.Leu1577=) | |
11 | g.121145784T>A | CA383022326 | TBCEL-TECTA,TECTA | c.3773T>A (p.Leu1258Gln) c.1080T>A n.338T>A c.4730T>A (p.Leu1577Gln) | ClinVar gnomAD v4 |
11 | g.121145784T>C | CA383022328 | TBCEL-TECTA,TECTA | c.3773T>C (p.Leu1258Pro) c.1080T>C n.338T>C c.4730T>C (p.Leu1577Pro) | |
11 | g.121145784T>G | CA383022330 | TBCEL-TECTA,TECTA | c.3773T>G (p.Leu1258Arg) c.1080T>G n.338T>G c.4730T>G (p.Leu1577Arg) | |
11 | g.121145785G>A | CA477382869 | TBCEL-TECTA,TECTA | c.3774G>A (p.Leu1258=) c.1081G>A n.339G>A c.4731G>A (p.Leu1577=) | |
11 | g.121145785G>C | CA477382870 | TBCEL-TECTA,TECTA | c.3774G>C (p.Leu1258=) c.1081G>C n.339G>C c.4731G>C (p.Leu1577=) | |
11 | g.121145785G>T | CA477382871 | TBCEL-TECTA,TECTA | c.3774G>T (p.Leu1258=) c.1081G>T n.339G>T c.4731G>T (p.Leu1577=) | COSMIC |
11 | g.121145786C>A | CA383022333 | TBCEL-TECTA,TECTA | c.3775C>A (p.Leu1259Ile) c.1082C>A n.340C>A c.4732C>A (p.Leu1578Ile) | |
11 | g.121145786C>G | CA383022335 | TBCEL-TECTA,TECTA | c.3775C>G (p.Leu1259Val) c.1082C>G n.340C>G c.4732C>G (p.Leu1578Val) | |
11 | g.121145786C>T | CA383022339 | TBCEL-TECTA,TECTA | c.3775C>T (p.Leu1259Phe) c.1082C>T n.340C>T c.4732C>T (p.Leu1578Phe) | |
11 | g.121145787T>A | CA383022343 | TBCEL-TECTA,TECTA | c.3776T>A (p.Leu1259His) c.1083T>A n.341T>A c.4733T>A (p.Leu1578His) | |
11 | g.121145787T>C | CA6327288 | TBCEL-TECTA,TECTA | c.3776T>C (p.Leu1259Pro) c.1083T>C n.341T>C c.4733T>C (p.Leu1578Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121145787T>G | CA383022341 | TBCEL-TECTA,TECTA | c.3776T>G (p.Leu1259Arg) c.1083T>G n.341T>G c.4733T>G (p.Leu1578Arg) | |
11 | g.121145787T= | CA2004737539 | TBCEL-TECTA,TECTA | c.3776T= (p.Leu1259=) c.1083T= n.341T= c.4733T= (p.Leu1578=) |