Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.121145862G>A | CA6327300 | TBCEL-TECTA,TECTA | c.3851G>A (p.Arg1284His) c.1158G>A n.416G>A c.4808G>A (p.Arg1603His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121145862G>C | CA383022644 | TBCEL-TECTA,TECTA | c.3851G>C (p.Arg1284Pro) c.1158G>C n.416G>C c.4808G>C (p.Arg1603Pro) | |
11 | g.121145862G= | CA2004737568 | TBCEL-TECTA,TECTA | c.3851G= (p.Arg1284=) c.1158G= n.416G= c.4808G= (p.Arg1603=) | |
11 | g.121145862G>T | CA383022645 | TBCEL-TECTA,TECTA | c.3851G>T (p.Arg1284Leu) c.1158G>T n.416G>T c.4808G>T (p.Arg1603Leu) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
11 | g.121145863C>A | CA477382909 | TBCEL-TECTA,TECTA | c.3852C>A (p.Arg1284=) c.1159C>A n.417C>A c.4809C>A (p.Arg1603=) | |
11 | g.121145863C>G | CA477382910 | TBCEL-TECTA,TECTA | c.3852C>G (p.Arg1284=) c.1159C>G n.417C>G c.4809C>G (p.Arg1603=) | |
11 | g.121145863C>T | CA477382911 | TBCEL-TECTA,TECTA | c.3852C>T (p.Arg1284=) c.1159C>T n.417C>T c.4809C>T (p.Arg1603=) | |
11 | g.121145864T>A | CA383022646 | TBCEL-TECTA,TECTA | c.3853T>A (p.Cys1285Ser) c.1160T>A n.418T>A c.4810T>A (p.Cys1604Ser) | |
11 | g.121145864T>C | CA383022647 | TBCEL-TECTA,TECTA | c.3853T>C (p.Cys1285Arg) c.1160T>C n.418T>C c.4810T>C (p.Cys1604Arg) | |
11 | g.121145864T>G | CA383022648 | TBCEL-TECTA,TECTA | c.3853T>G (p.Cys1285Gly) c.1160T>G n.418T>G c.4810T>G (p.Cys1604Gly) | |
11 | g.121145865G>A | CA383022650 | TBCEL-TECTA,TECTA | c.3854G>A (p.Cys1285Tyr) c.1161G>A n.419G>A c.4811G>A (p.Cys1604Tyr) | |
11 | g.121145865G>C | CA16616916 | TBCEL-TECTA,TECTA | c.3854G>C (p.Cys1285Ser) c.1161G>C n.419G>C c.4811G>C (p.Cys1604Ser) | ClinVar dbSNP |
11 | g.121145865G= | CA2004737569 | TBCEL-TECTA,TECTA | c.3854G= (p.Cys1285=) c.1161G= n.419G= c.4811G= (p.Cys1604=) | |
11 | g.121145865G>T | CA383022649 | TBCEL-TECTA,TECTA | c.3854G>T (p.Cys1285Phe) c.1161G>T n.419G>T c.4811G>T (p.Cys1604Phe) | |
11 | g.121145866T>A | CA383022651 | TBCEL-TECTA,TECTA | c.3855T>A (p.Cys1285Ter) c.1162T>A n.420T>A c.4812T>A (p.Cys1604Ter) | |
11 | g.121145866T>C | CA477382914 | TBCEL-TECTA,TECTA | c.3855T>C (p.Cys1285=) c.1162T>C n.420T>C c.4812T>C (p.Cys1604=) | |
11 | g.121145866T>G | CA383022652 | TBCEL-TECTA,TECTA | c.3855T>G (p.Cys1285Trp) c.1162T>G n.420T>G c.4812T>G (p.Cys1604Trp) | |
11 | g.121145867C>A | CA383022653 | TBCEL-TECTA,TECTA | c.3856C>A (p.Pro1286Thr) c.1163C>A n.421C>A c.4813C>A (p.Pro1605Thr) | |
11 | g.121145867C>G | CA383022654 | TBCEL-TECTA,TECTA | c.3856C>G (p.Pro1286Ala) c.1163C>G n.421C>G c.4813C>G (p.Pro1605Ala) | |
11 | g.121145867C>T | CA383022655 | TBCEL-TECTA,TECTA | c.3856C>T (p.Pro1286Ser) c.1163C>T n.421C>T c.4813C>T (p.Pro1605Ser) | |
11 | g.121145868C>A | CA383022656 | TBCEL-TECTA,TECTA | c.3857C>A (p.Pro1286Gln) c.1164C>A n.422C>A c.4814C>A (p.Pro1605Gln) | gnomAD v4 |
11 | g.121145868C= | CA2004737570 | TBCEL-TECTA,TECTA | c.3857C= (p.Pro1286=) c.1164C= n.422C= c.4814C= (p.Pro1605=) | |
11 | g.121145868C>G | CA383022657 | TBCEL-TECTA,TECTA | c.3857C>G (p.Pro1286Arg) c.1164C>G n.422C>G c.4814C>G (p.Pro1605Arg) | |
11 | g.121145868C>T | CA6327301 | TBCEL-TECTA,TECTA | c.3857C>T (p.Pro1286Leu) c.1164C>T n.422C>T c.4814C>T (p.Pro1605Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.121145869G>A | CA6327302 | TBCEL-TECTA,TECTA | c.3858G>A (p.Pro1286=) c.1165G>A n.423G>A c.4815G>A (p.Pro1605=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121145869G>C | CA477382916 | TBCEL-TECTA,TECTA | c.3858G>C (p.Pro1286=) c.1165G>C n.423G>C c.4815G>C (p.Pro1605=) | |
11 | g.121145869G= | CA2004737571 | TBCEL-TECTA,TECTA | c.3858G= (p.Pro1286=) c.1165G= n.423G= c.4815G= (p.Pro1605=) | |
11 | g.121145869G>T | CA477382917 | TBCEL-TECTA,TECTA | c.3858G>T (p.Pro1286=) c.1165G>T n.423G>T c.4815G>T (p.Pro1605=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121145870T>A | CA383022658 | TBCEL-TECTA,TECTA | c.3859T>A (p.Ser1287Thr) c.1166T>A n.424T>A c.4816T>A (p.Ser1606Thr) | |
11 | g.121145870T>C | CA383022659 | TBCEL-TECTA,TECTA | c.3859T>C (p.Ser1287Pro) c.1166T>C n.424T>C c.4816T>C (p.Ser1606Pro) | dbSNP gnomAD v4 |
11 | g.121145870T>G | CA383022660 | TBCEL-TECTA,TECTA | c.3859T>G (p.Ser1287Ala) c.1166T>G n.424T>G c.4816T>G (p.Ser1606Ala) | |
11 | g.121145870T= | CA2004737572 | TBCEL-TECTA,TECTA | c.3859T= (p.Ser1287=) c.1166T= n.424T= c.4816T= (p.Ser1606=) | |
11 | g.121145871C>A | CA383022661 | TBCEL-TECTA,TECTA | c.3860C>A (p.Ser1287Tyr) c.1167C>A n.425C>A c.4817C>A (p.Ser1606Tyr) | |
11 | g.121145871C>G | CA383022662 | TBCEL-TECTA,TECTA | c.3860C>G (p.Ser1287Cys) c.1167C>G n.425C>G c.4817C>G (p.Ser1606Cys) | |
11 | g.121145871C>T | CA383022663 | TBCEL-TECTA,TECTA | c.3860C>T (p.Ser1287Phe) c.1167C>T n.425C>T c.4817C>T (p.Ser1606Phe) | |
11 | g.121145872C>A | CA477382920 | TBCEL-TECTA,TECTA | c.3861C>A (p.Ser1287=) c.1168C>A n.426C>A c.4818C>A (p.Ser1606=) | gnomAD v4 |
11 | g.121145872C>G | CA477382921 | TBCEL-TECTA,TECTA | c.3861C>G (p.Ser1287=) c.1168C>G n.426C>G c.4818C>G (p.Ser1606=) | |
11 | g.121145872C>T | CA477382919 | TBCEL-TECTA,TECTA | c.3861C>T (p.Ser1287=) c.1168C>T n.426C>T c.4818C>T (p.Ser1606=) | |
11 | g.121145873T>A | CA383022664 | TBCEL-TECTA,TECTA | c.3862T>A (p.Cys1288Ser) c.1169T>A n.427T>A c.4819T>A (p.Cys1607Ser) | |
11 | g.121145873T>C | CA383022665 | TBCEL-TECTA,TECTA | c.3862T>C (p.Cys1288Arg) c.1169T>C n.427T>C c.4819T>C (p.Cys1607Arg) | |
11 | g.121145873T>G | CA383022666 | TBCEL-TECTA,TECTA | c.3862T>G (p.Cys1288Gly) c.1169T>G n.427T>G c.4819T>G (p.Cys1607Gly) | |
11 | g.121145874G>A | CA383022669 | TBCEL-TECTA,TECTA | c.3863G>A (p.Cys1288Tyr) c.1170G>A n.428G>A c.4820G>A (p.Cys1607Tyr) | |
11 | g.121145874G>C | CA383022668 | TBCEL-TECTA,TECTA | c.3863G>C (p.Cys1288Ser) c.1170G>C n.428G>C c.4820G>C (p.Cys1607Ser) | |
11 | g.121145874G>T | CA383022667 | TBCEL-TECTA,TECTA | c.3863G>T (p.Cys1288Phe) c.1170G>T n.428G>T c.4820G>T (p.Cys1607Phe) | |
11 | g.121145875T>A | CA383022670 | TBCEL-TECTA,TECTA | c.3864T>A (p.Cys1288Ter) c.1171T>A n.429T>A c.4821T>A (p.Cys1607Ter) | |
11 | g.121145875T>C | CA477382922 | TBCEL-TECTA,TECTA | c.3864T>C (p.Cys1288=) c.1171T>C n.429T>C c.4821T>C (p.Cys1607=) | |
11 | g.121145875T>G | CA383022671 | TBCEL-TECTA,TECTA | c.3864T>G (p.Cys1288Trp) c.1171T>G n.429T>G c.4821T>G (p.Cys1607Trp) | |
11 | g.121145876G>A | CA383022672 | TBCEL-TECTA,TECTA | c.3865G>A (p.Ala1289Thr) c.1172G>A n.430G>A c.4822G>A (p.Ala1608Thr) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.121145876G>C | CA383022673 | TBCEL-TECTA,TECTA | c.3865G>C (p.Ala1289Pro) c.1172G>C n.430G>C c.4822G>C (p.Ala1608Pro) | |
11 | g.121145876G= | CA2004737573 | TBCEL-TECTA,TECTA | c.3865G= (p.Ala1289=) c.1172G= n.430G= c.4822G= (p.Ala1608=) | |
11 | g.121145876G>T | CA383022674 | TBCEL-TECTA,TECTA | c.3865G>T (p.Ala1289Ser) c.1172G>T n.430G>T c.4822G>T (p.Ala1608Ser) | |
11 | g.121145877C>A | CA383022675 | TBCEL-TECTA,TECTA | c.3866C>A (p.Ala1289Asp) c.1173C>A n.431C>A c.4823C>A (p.Ala1608Asp) | |
11 | g.121145877C= | CA2004737574 | TBCEL-TECTA,TECTA | c.3866C= (p.Ala1289=) c.1173C= n.431C= c.4823C= (p.Ala1608=) | |
11 | g.121145877C>G | CA383022676 | TBCEL-TECTA,TECTA | c.3866C>G (p.Ala1289Gly) c.1173C>G n.431C>G c.4823C>G (p.Ala1608Gly) | |
11 | g.121145877C>T | CA6327303 | TBCEL-TECTA,TECTA | c.3866C>T (p.Ala1289Val) c.1173C>T n.431C>T c.4823C>T (p.Ala1608Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121145878C>A | CA477382924 | TBCEL-TECTA,TECTA | c.3867C>A (p.Ala1289=) c.1174C>A n.432C>A c.4824C>A (p.Ala1608=) | |
11 | g.121145878C>G | CA477382925 | TBCEL-TECTA,TECTA | c.3867C>G (p.Ala1289=) c.1174C>G n.432C>G c.4824C>G (p.Ala1608=) | |
11 | g.121145878C>T | CA477382923 | TBCEL-TECTA,TECTA | c.3867C>T (p.Ala1289=) c.1174C>T n.432C>T c.4824C>T (p.Ala1608=) | |
11 | g.121145879A= | CA2004737575 | TBCEL-TECTA,TECTA | c.3868A= (p.Lys1290=) c.1175A= n.433A= c.4825A= (p.Lys1609=) | |
11 | g.121145879A>C | CA383022677 | TBCEL-TECTA,TECTA | c.3868A>C (p.Lys1290Gln) c.1175A>C n.433A>C c.4825A>C (p.Lys1609Gln) | |
11 | g.121145879A>G | CA229831546 | TBCEL-TECTA,TECTA | c.3868A>G (p.Lys1290Glu) c.1175A>G n.433A>G c.4825A>G (p.Lys1609Glu) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.121145879A>T | CA383022678 | TBCEL-TECTA,TECTA | c.3868A>T (p.Lys1290Ter) c.1175A>T n.433A>T c.4825A>T (p.Lys1609Ter) | |
11 | g.121145880A= | CA2004737576 | TBCEL-TECTA,TECTA | c.3869A= (p.Lys1290=) c.1176A= n.434A= c.4826A= (p.Lys1609=) | |
11 | g.121145880A>C | CA383022679 | TBCEL-TECTA,TECTA | c.3869A>C (p.Lys1290Thr) c.1176A>C n.434A>C c.4826A>C (p.Lys1609Thr) | |
11 | g.121145880A>G | CA383022680 | TBCEL-TECTA,TECTA | c.3869A>G (p.Lys1290Arg) c.1176A>G n.434A>G c.4826A>G (p.Lys1609Arg) | |
11 | g.121145880A>T | CA6327304 | TBCEL-TECTA,TECTA | c.3869A>T (p.Lys1290Met) c.1176A>T n.434A>T c.4826A>T (p.Lys1609Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121145881G>A | CA229831551 | TBCEL-TECTA,TECTA | c.3870G>A (p.Lys1290=) c.1177G>A n.435G>A c.4827G>A (p.Lys1609=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.121145881G>C | CA383022682 | TBCEL-TECTA,TECTA | c.3870G>C (p.Lys1290Asn) c.1177G>C n.435G>C c.4827G>C (p.Lys1609Asn) | |
11 | g.121145881G= | CA2004737577 | TBCEL-TECTA,TECTA | c.3870G= (p.Lys1290=) c.1177G= n.435G= c.4827G= (p.Lys1609=) | |
11 | g.121145881G>T | CA383022681 | TBCEL-TECTA,TECTA | c.3870G>T (p.Lys1290Asn) c.1177G>T n.435G>T c.4827G>T (p.Lys1609Asn) | |
11 | g.121145882G>A | CA383022683 | TBCEL-TECTA,TECTA | c.3871G>A (p.Val1291Met) c.1178G>A n.436G>A c.4828G>A (p.Val1610Met) | gnomAD v4 |
11 | g.121145882G>C | CA383022684 | TBCEL-TECTA,TECTA | c.3871G>C (p.Val1291Leu) c.1178G>C n.436G>C c.4828G>C (p.Val1610Leu) | |
11 | g.121145882G= | CA2004737578 | TBCEL-TECTA,TECTA | c.3871G= (p.Val1291=) c.1178G= n.436G= c.4828G= (p.Val1610=) | |
11 | g.121145882G>T | CA229831559 | TBCEL-TECTA,TECTA | c.3871G>T (p.Val1291Leu) c.1178G>T n.436G>T c.4828G>T (p.Val1610Leu) | dbSNP gnomAD v4 |
11 | g.121145883T>A | CA383022685 | TBCEL-TECTA,TECTA | c.3872T>A (p.Val1291Glu) c.1179T>A n.437T>A c.4829T>A (p.Val1610Glu) | |
11 | g.121145883T>C | CA383022686 | TBCEL-TECTA,TECTA | c.3872T>C (p.Val1291Ala) c.1179T>C n.437T>C c.4829T>C (p.Val1610Ala) | |
11 | g.121145883T>G | CA383022687 | TBCEL-TECTA,TECTA | c.3872T>G (p.Val1291Gly) c.1179T>G n.437T>G c.4829T>G (p.Val1610Gly) | |
11 | g.121145884G>A | CA6327305 | TBCEL-TECTA,TECTA | c.3873G>A (p.Val1291=) c.1180G>A n.438G>A c.4830G>A (p.Val1610=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121145884G>C | CA477382926 | TBCEL-TECTA,TECTA | c.3873G>C (p.Val1291=) c.1180G>C n.438G>C c.4830G>C (p.Val1610=) | |
11 | g.121145884G= | CA2004737579 | TBCEL-TECTA,TECTA | c.3873G= (p.Val1291=) c.1180G= n.438G= c.4830G= (p.Val1610=) | |
11 | g.121145884G>T | CA477382927 | TBCEL-TECTA,TECTA | c.3873G>T (p.Val1291=) c.1180G>T n.438G>T c.4830G>T (p.Val1610=) | |
11 | g.121145885G>A | CA6327306 | TBCEL-TECTA,TECTA | c.3874G>A (p.Glu1292Lys) c.1181G>A n.439G>A c.4831G>A (p.Glu1611Lys) | dbSNP ExAC |
11 | g.121145885G>C | CA383022688 | TBCEL-TECTA,TECTA | c.3874G>C (p.Glu1292Gln) c.1181G>C n.439G>C c.4831G>C (p.Glu1611Gln) | dbSNP gnomAD v4 |
11 | g.121145885G= | CA2004737580 | TBCEL-TECTA,TECTA | c.3874G= (p.Glu1292=) c.1181G= n.439G= c.4831G= (p.Glu1611=) | |
11 | g.121145885G>T | CA383022689 | TBCEL-TECTA,TECTA | c.3874G>T (p.Glu1292Ter) c.1181G>T n.439G>T c.4831G>T (p.Glu1611Ter) | |
11 | g.121145886A>C | CA383022690 | TBCEL-TECTA,TECTA | c.3875A>C (p.Glu1292Ala) c.1182A>C n.440A>C c.4832A>C (p.Glu1611Ala) | |
11 | g.121145886A>G | CA383022691 | TBCEL-TECTA,TECTA | c.3875A>G (p.Glu1292Gly) c.1182A>G n.440A>G c.4832A>G (p.Glu1611Gly) | |
11 | g.121145886A>T | CA383022692 | TBCEL-TECTA,TECTA | c.3875A>T (p.Glu1292Val) c.1182A>T n.440A>T c.4832A>T (p.Glu1611Val) | |
11 | g.121145887A>C | CA383022693 | TBCEL-TECTA,TECTA | c.3876A>C (p.Glu1292Asp) c.1183A>C n.441A>C c.4833A>C (p.Glu1611Asp) | |
11 | g.121145887A>G | CA477382928 | TBCEL-TECTA,TECTA | c.3876A>G (p.Glu1292=) c.1183A>G n.441A>G c.4833A>G (p.Glu1611=) | |
11 | g.121145887A>T | CA383022694 | TBCEL-TECTA,TECTA | c.3876A>T (p.Glu1292Asp) c.1183A>T n.441A>T c.4833A>T (p.Glu1611Asp) | |
11 | g.121145888G>A | CA383022696 | TBCEL-TECTA,TECTA | c.3877G>A (p.Gly1293Ser) c.1184G>A n.442G>A c.4834G>A (p.Gly1612Ser) | |
11 | g.121145888G>C | CA383022697 | TBCEL-TECTA,TECTA | c.3877G>C (p.Gly1293Arg) c.1184G>C n.442G>C c.4834G>C (p.Gly1612Arg) | |
11 | g.121145888G>T | CA383022695 | TBCEL-TECTA,TECTA | c.3877G>T (p.Gly1293Cys) c.1184G>T n.442G>T c.4834G>T (p.Gly1612Cys) | |
11 | g.121145889G>A | CA6327307 | TBCEL-TECTA,TECTA | c.3878G>A (p.Gly1293Asp) c.1185G>A n.443G>A c.4835G>A (p.Gly1612Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121145889G>C | CA383022698 | TBCEL-TECTA,TECTA | c.3878G>C (p.Gly1293Ala) c.1185G>C n.443G>C c.4835G>C (p.Gly1612Ala) | |
11 | g.121145889G= | CA2004737581 | TBCEL-TECTA,TECTA | c.3878G= (p.Gly1293=) c.1185G= n.443G= c.4835G= (p.Gly1612=) | |
11 | g.121145889G>T | CA383022699 | TBCEL-TECTA,TECTA | c.3878G>T (p.Gly1293Val) c.1185G>T n.443G>T c.4835G>T (p.Gly1612Val) | dbSNP |
11 | g.121145890T>A | CA477382929 | TBCEL-TECTA,TECTA | c.3879T>A (p.Gly1293=) c.1186T>A n.444T>A c.4836T>A (p.Gly1612=) | gnomAD v4 |
11 | g.121145890T>C | CA477382931 | TBCEL-TECTA,TECTA | c.3879T>C (p.Gly1293=) c.1186T>C n.444T>C c.4836T>C (p.Gly1612=) | gnomAD v4 |
11 | g.121145890T>G | CA477382930 | TBCEL-TECTA,TECTA | c.3879T>G (p.Gly1293=) c.1186T>G n.444T>G c.4836T>G (p.Gly1612=) | |
11 | g.121145891T>A | CA383022700 | TBCEL-TECTA,TECTA | c.3880T>A (p.Phe1294Ile) c.1187T>A n.445T>A c.4837T>A (p.Phe1613Ile) | |
11 | g.121145891T>C | CA383022701 | TBCEL-TECTA,TECTA | c.3880T>C (p.Phe1294Leu) c.1187T>C n.445T>C c.4837T>C (p.Phe1613Leu) | |
11 | g.121145891T>G | CA383022702 | TBCEL-TECTA,TECTA | c.3880T>G (p.Phe1294Val) c.1187T>G n.445T>G c.4837T>G (p.Phe1613Val) | |
11 | g.121145892T>A | CA383022705 | TBCEL-TECTA,TECTA | c.3881T>A (p.Phe1294Tyr) c.1188T>A n.446T>A c.4838T>A (p.Phe1613Tyr) | |
11 | g.121145892T>C | CA383022703 | TBCEL-TECTA,TECTA | c.3881T>C (p.Phe1294Ser) c.1188T>C n.446T>C c.4838T>C (p.Phe1613Ser) | |
11 | g.121145892T>G | CA383022704 | TBCEL-TECTA,TECTA | c.3881T>G (p.Phe1294Cys) c.1188T>G n.446T>G c.4838T>G (p.Phe1613Cys) | |
11 | g.121145893C>A | CA383022706 | TBCEL-TECTA,TECTA | c.3882C>A (p.Phe1294Leu) c.1189C>A n.447C>A c.4839C>A (p.Phe1613Leu) | dbSNP |
11 | g.121145893C= | CA2004737582 | TBCEL-TECTA,TECTA | c.3882C= (p.Phe1294=) c.1189C= n.447C= c.4839C= (p.Phe1613=) | |
11 | g.121145893C>G | CA383022707 | TBCEL-TECTA,TECTA | c.3882C>G (p.Phe1294Leu) c.1189C>G n.447C>G c.4839C>G (p.Phe1613Leu) | |
11 | g.121145893C>T | CA477382932 | TBCEL-TECTA,TECTA | c.3882C>T (p.Phe1294=) c.1189C>T n.447C>T c.4839C>T (p.Phe1613=) | |
11 | g.121145894T>A | CA383022708 | TBCEL-TECTA,TECTA | c.3883T>A (p.Ser1295Thr) c.1190T>A n.448T>A c.4840T>A (p.Ser1614Thr) | |
11 | g.121145894T>C | CA383022709 | TBCEL-TECTA,TECTA | c.3883T>C (p.Ser1295Pro) c.1190T>C n.448T>C c.4840T>C (p.Ser1614Pro) | gnomAD v4 |
11 | g.121145894T>G | CA383022710 | TBCEL-TECTA,TECTA | c.3883T>G (p.Ser1295Ala) c.1190T>G n.448T>G c.4840T>G (p.Ser1614Ala) | |
11 | g.121145895C>A | CA383022711 | TBCEL-TECTA,TECTA | c.3884C>A (p.Ser1295Tyr) c.1191C>A n.449C>A c.4841C>A (p.Ser1614Tyr) | |
11 | g.121145895C>G | CA383022713 | TBCEL-TECTA,TECTA | c.3884C>G (p.Ser1295Cys) c.1191C>G n.449C>G c.4841C>G (p.Ser1614Cys) | |
11 | g.121145895C>T | CA383022712 | TBCEL-TECTA,TECTA | c.3884C>T (p.Ser1295Phe) c.1191C>T n.449C>T c.4841C>T (p.Ser1614Phe) | COSMIC |
11 | g.121145896C>A | CA477382933 | TBCEL-TECTA,TECTA | c.3885C>A (p.Ser1295=) c.1192C>A n.450C>A c.4842C>A (p.Ser1614=) | |
11 | g.121145896C>G | CA477382934 | TBCEL-TECTA,TECTA | c.3885C>G (p.Ser1295=) c.1192C>G n.450C>G c.4842C>G (p.Ser1614=) | gnomAD v4 |
11 | g.121145896C>T | CA477382935 | TBCEL-TECTA,TECTA | c.3885C>T (p.Ser1295=) c.1192C>T n.450C>T c.4842C>T (p.Ser1614=) | |
11 | g.121145897A>C | CA383022714 | TBCEL-TECTA,TECTA | c.3886A>C (p.Lys1296Gln) c.1193A>C n.451A>C c.4843A>C (p.Lys1615Gln) | |
11 | g.121145897A>G | CA383022715 | TBCEL-TECTA,TECTA | c.3886A>G (p.Lys1296Glu) c.1193A>G n.451A>G c.4843A>G (p.Lys1615Glu) | |
11 | g.121145897A>T | CA383022716 | TBCEL-TECTA,TECTA | c.3886A>T (p.Lys1296Ter) c.1193A>T n.451A>T c.4843A>T (p.Lys1615Ter) | |
11 | g.121145899del | CA645593864 | TBCEL-TECTA,TECTA | c.3888del (p.Val1297CysfsTer7) c.1195del n.453del c.4845del (p.Val1616CysfsTer7) | COSMIC |
11 | g.121145898A>C | CA383022717 | TBCEL-TECTA,TECTA | c.3887A>C (p.Lys1296Thr) c.1194A>C n.452A>C c.4844A>C (p.Lys1615Thr) | |
11 | g.121145898A>G | CA383022718 | TBCEL-TECTA,TECTA | c.3887A>G (p.Lys1296Arg) c.1194A>G n.452A>G c.4844A>G (p.Lys1615Arg) | |
11 | g.121145898A>T | CA383022719 | TBCEL-TECTA,TECTA | c.3887A>T (p.Lys1296Ile) c.1194A>T n.452A>T c.4844A>T (p.Lys1615Ile) | |
11 | g.121145899A>C | CA383022720 | TBCEL-TECTA,TECTA | c.3888A>C (p.Lys1296Asn) c.1195A>C n.453A>C c.4845A>C (p.Lys1615Asn) | |
11 | g.121145899A>G | CA477382936 | TBCEL-TECTA,TECTA | c.3888A>G (p.Lys1296=) c.1195A>G n.453A>G c.4845A>G (p.Lys1615=) | COSMIC |
11 | g.121145899A>T | CA383022721 | TBCEL-TECTA,TECTA | c.3888A>T (p.Lys1296Asn) c.1195A>T n.453A>T c.4845A>T (p.Lys1615Asn) | |
11 | g.121145900G>A | CA383022722 | TBCEL-TECTA,TECTA | c.3889G>A (p.Val1297Met) c.1196G>A n.454G>A c.4846G>A (p.Val1616Met) | |
11 | g.121145900G>C | CA383022723 | TBCEL-TECTA,TECTA | c.3889G>C (p.Val1297Leu) c.1196G>C n.454G>C c.4846G>C (p.Val1616Leu) | |
11 | g.121145900G>T | CA383022724 | TBCEL-TECTA,TECTA | c.3889G>T (p.Val1297Leu) c.1196G>T n.454G>T c.4846G>T (p.Val1616Leu) | |
11 | g.121145901T>A | CA383022725 | TBCEL-TECTA,TECTA | c.3890T>A (p.Val1297Glu) c.1197T>A n.455T>A c.4847T>A (p.Val1616Glu) | |
11 | g.121145901T>C | CA383022727 | TBCEL-TECTA,TECTA | c.3890T>C (p.Val1297Ala) c.1197T>C n.455T>C c.4847T>C (p.Val1616Ala) | dbSNP |
11 | g.121145901T>G | CA383022726 | TBCEL-TECTA,TECTA | c.3890T>G (p.Val1297Gly) c.1197T>G n.455T>G c.4847T>G (p.Val1616Gly) | |
11 | g.121145902G>A | CA477382937 | TBCEL-TECTA,TECTA | c.3891G>A (p.Val1297=) c.1198G>A n.456G>A c.4848G>A (p.Val1616=) | |
11 | g.121145902G>C | CA477382939 | TBCEL-TECTA,TECTA | c.3891G>C (p.Val1297=) c.1198G>C n.456G>C c.4848G>C (p.Val1616=) | |
11 | g.121145902G>T | CA477382938 | TBCEL-TECTA,TECTA | c.3891G>T (p.Val1297=) c.1198G>T n.456G>T c.4848G>T (p.Val1616=) | |
11 | g.121145903C>A | CA383022728 | TBCEL-TECTA,TECTA | c.3892C>A (p.Gln1298Lys) c.1199C>A n.457C>A c.4849C>A (p.Gln1617Lys) | |
11 | g.121145903C>G | CA383022730 | TBCEL-TECTA,TECTA | c.3892C>G (p.Gln1298Glu) c.1199C>G n.457C>G c.4849C>G (p.Gln1617Glu) | |
11 | g.121145903C>T | CA383022729 | TBCEL-TECTA,TECTA | c.3892C>T (p.Gln1298Ter) c.1199C>T n.457C>T c.4849C>T (p.Gln1617Ter) | |
11 | g.121145904A>C | CA383022731 | TBCEL-TECTA,TECTA | c.3893A>C (p.Gln1298Pro) c.1200A>C n.458A>C c.4850A>C (p.Gln1617Pro) | |
11 | g.121145904A>G | CA383022732 | TBCEL-TECTA,TECTA | c.3893A>G (p.Gln1298Arg) c.1200A>G n.458A>G c.4850A>G (p.Gln1617Arg) | gnomAD v4 |
11 | g.121145904A>T | CA383022733 | TBCEL-TECTA,TECTA | c.3893A>T (p.Gln1298Leu) c.1200A>T n.458A>T c.4850A>T (p.Gln1617Leu) | |
11 | g.121145905G>A | CA477382940 | TBCEL-TECTA,TECTA | c.3894G>A (p.Gln1298=) c.1201G>A n.459G>A c.4851G>A (p.Gln1617=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.121145905G>C | CA383022734 | TBCEL-TECTA,TECTA | c.3894G>C (p.Gln1298His) c.1201G>C n.459G>C c.4851G>C (p.Gln1617His) | |
11 | g.121145905G= | CA2004737583 | TBCEL-TECTA,TECTA | c.3894G= (p.Gln1298=) c.1201G= n.459G= c.4851G= (p.Gln1617=) | |
11 | g.121145905G>T | CA383022735 | TBCEL-TECTA,TECTA | c.3894G>T (p.Gln1298His) c.1201G>T n.459G>T c.4851G>T (p.Gln1617His) | |
11 | g.121145906C>A | CA383022736 | TBCEL-TECTA,TECTA | c.3895C>A (p.Gln1299Lys) c.1202C>A n.460C>A c.4852C>A (p.Gln1618Lys) | |
11 | g.121145906C>G | CA383022737 | TBCEL-TECTA,TECTA | c.3895C>G (p.Gln1299Glu) c.1202C>G n.460C>G c.4852C>G (p.Gln1618Glu) | gnomAD v4 |
11 | g.121145906C>T | CA383022738 | TBCEL-TECTA,TECTA | c.3895C>T (p.Gln1299Ter) c.1202C>T n.460C>T c.4852C>T (p.Gln1618Ter) | |
11 | g.121145907A= | CA2004737584 | TBCEL-TECTA,TECTA | c.3896A= (p.Gln1299=) c.1203A= n.461A= c.4853A= (p.Gln1618=) | |
11 | g.121145907A>C | CA383022739 | TBCEL-TECTA,TECTA | c.3896A>C (p.Gln1299Pro) c.1203A>C n.461A>C c.4853A>C (p.Gln1618Pro) | gnomAD v4 |
11 | g.121145907A>G | CA6327308 | TBCEL-TECTA,TECTA | c.3896A>G (p.Gln1299Arg) c.1203A>G n.461A>G c.4853A>G (p.Gln1618Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121145907A>T | CA383022740 | TBCEL-TECTA,TECTA | c.3896A>T (p.Gln1299Leu) c.1203A>T n.461A>T c.4853A>T (p.Gln1618Leu) | |
11 | g.121145908G>A | CA477382941 | TBCEL-TECTA,TECTA | c.3897G>A (p.Gln1299=) c.1204G>A n.462G>A c.4854G>A (p.Gln1618=) | |
11 | g.121145908G>C | CA383022741 | TBCEL-TECTA,TECTA | c.3897G>C (p.Gln1299His) c.1204G>C n.462G>C c.4854G>C (p.Gln1618His) | |
11 | g.121145908G>T | CA383022742 | TBCEL-TECTA,TECTA | c.3897G>T (p.Gln1299His) c.1204G>T n.462G>T c.4854G>T (p.Gln1618His) | |
11 | g.121145909C>A | CA383022743 | TBCEL-TECTA,TECTA | c.3898C>A (p.Leu1300Met) c.1205C>A n.463C>A c.4855C>A (p.Leu1619Met) | |
11 | g.121145909C= | CA2004737585 | TBCEL-TECTA,TECTA | c.3898C= (p.Leu1300=) c.1205C= n.463C= c.4855C= (p.Leu1619=) | |
11 | g.121145909C>G | CA6327309 | TBCEL-TECTA,TECTA | c.3898C>G (p.Leu1300Val) c.1205C>G n.463C>G c.4855C>G (p.Leu1619Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121145909C>T | CA229831631 | TBCEL-TECTA,TECTA | c.3898C>T (p.Leu1300=) c.1205C>T n.463C>T c.4855C>T (p.Leu1619=) | ClinVar dbSNP gnomAD v4 |
11 | g.121145910T>A | CA383022744 | TBCEL-TECTA,TECTA | c.3899T>A (p.Leu1300Gln) c.1206T>A n.464T>A c.4856T>A (p.Leu1619Gln) | |
11 | g.121145910T>C | CA383022745 | TBCEL-TECTA,TECTA | c.3899T>C (p.Leu1300Pro) c.1206T>C n.464T>C c.4856T>C (p.Leu1619Pro) | gnomAD v4 |
11 | g.121145910T>G | CA229831641 | TBCEL-TECTA,TECTA | c.3899T>G (p.Leu1300Arg) c.1206T>G n.464T>G c.4856T>G (p.Leu1619Arg) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.121145910T= | CA2004737586 | TBCEL-TECTA,TECTA | c.3899T= (p.Leu1300=) c.1206T= n.464T= c.4856T= (p.Leu1619=) | |
11 | g.121145911G>A | CA477382943 | TBCEL-TECTA,TECTA | c.3900G>A (p.Leu1300=) c.1207G>A n.465G>A c.4857G>A (p.Leu1619=) | dbSNP gnomAD v4 |
11 | g.121145911G>C | CA477382942 | TBCEL-TECTA,TECTA | c.3900G>C (p.Leu1300=) c.1207G>C n.465G>C c.4857G>C (p.Leu1619=) | |
11 | g.121145911G= | CA2004737587 | TBCEL-TECTA,TECTA | c.3900G= (p.Leu1300=) c.1207G= n.465G= c.4857G= (p.Leu1619=) | |
11 | g.121145911G>T | CA229831645 | TBCEL-TECTA,TECTA | c.3900G>T (p.Leu1300=) c.1207G>T n.465G>T c.4857G>T (p.Leu1619=) | dbSNP gnomAD v4 |
11 | g.121145912T>A | CA383022746 | TBCEL-TECTA,TECTA | c.3901T>A (p.Cys1301Ser) c.1208T>A n.466T>A c.4858T>A (p.Cys1620Ser) | |
11 | g.121145912T>C | CA383022747 | TBCEL-TECTA,TECTA | c.3901T>C (p.Cys1301Arg) c.1208T>C n.466T>C c.4858T>C (p.Cys1620Arg) | |
11 | g.121145912T>G | CA383022748 | TBCEL-TECTA,TECTA | c.3901T>G (p.Cys1301Gly) c.1208T>G n.466T>G c.4858T>G (p.Cys1620Gly) | |
11 | g.121145913G>A | CA383022749 | TBCEL-TECTA,TECTA | c.3902G>A (p.Cys1301Tyr) c.1209G>A n.467G>A c.4859G>A (p.Cys1620Tyr) | |
11 | g.121145913G>C | CA383022750 | TBCEL-TECTA,TECTA | c.3902G>C (p.Cys1301Ser) c.1209G>C n.467G>C c.4859G>C (p.Cys1620Ser) | |
11 | g.121145913G= | CA2004737588 | TBCEL-TECTA,TECTA | c.3902G= (p.Cys1301=) c.1209G= n.467G= c.4859G= (p.Cys1620=) | |
11 | g.121145913G>T | CA383022751 | TBCEL-TECTA,TECTA | c.3902G>T (p.Cys1301Phe) c.1209G>T n.467G>T c.4859G>T (p.Cys1620Phe) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.121145914C>A | CA383022753 | TBCEL-TECTA,TECTA | c.3903C>A (p.Cys1301Ter) c.1210C>A n.468C>A c.4860C>A (p.Cys1620Ter) | |
11 | g.121145914C= | CA2004737589 | TBCEL-TECTA,TECTA | c.3903C= (p.Cys1301=) c.1210C= n.468C= c.4860C= (p.Cys1620=) | |
11 | g.121145914C>G | CA383022752 | TBCEL-TECTA,TECTA | c.3903C>G (p.Cys1301Trp) c.1210C>G n.468C>G c.4860C>G (p.Cys1620Trp) | |
11 | g.121145914C>T | CA229831646 | TBCEL-TECTA,TECTA | c.3903C>T (p.Cys1301=) c.1210C>T n.468C>T c.4860C>T (p.Cys1620=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121145915A>C | CA383022754 | TBCEL-TECTA,TECTA | c.3904A>C (p.Ser1302Arg) c.1211A>C n.469A>C c.4861A>C (p.Ser1621Arg) | |
11 | g.121145915A>G | CA383022755 | TBCEL-TECTA,TECTA | c.3904A>G (p.Ser1302Gly) c.1211A>G n.469A>G c.4861A>G (p.Ser1621Gly) | |
11 | g.121145915A>T | CA383022756 | TBCEL-TECTA,TECTA | c.3904A>T (p.Ser1302Cys) c.1211A>T n.469A>T c.4861A>T (p.Ser1621Cys) | |
11 | g.121145916G>A | CA383022757 | TBCEL-TECTA,TECTA | c.3905G>A (p.Ser1302Asn) c.1212G>A n.470G>A c.4862G>A (p.Ser1621Asn) | |
11 | g.121145916G>C | CA383022758 | TBCEL-TECTA,TECTA | c.3905G>C (p.Ser1302Thr) c.1212G>C n.470G>C c.4862G>C (p.Ser1621Thr) | |
11 | g.121145916G>T | CA383022759 | TBCEL-TECTA,TECTA | c.3905G>T (p.Ser1302Ile) c.1212G>T n.470G>T c.4862G>T (p.Ser1621Ile) | |
11 | g.121145917C>A | CA383022760 | TBCEL-TECTA,TECTA | c.3906C>A (p.Ser1302Arg) c.1213C>A n.471C>A c.4863C>A (p.Ser1621Arg) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.121145917C= | CA2004737590 | TBCEL-TECTA,TECTA | c.3906C= (p.Ser1302=) c.1213C= n.471C= c.4863C= (p.Ser1621=) | |
11 | g.121145917C>G | CA383022761 | TBCEL-TECTA,TECTA | c.3906C>G (p.Ser1302Arg) c.1213C>G n.471C>G c.4863C>G (p.Ser1621Arg) | |
11 | g.121145917C>T | CA477382944 | TBCEL-TECTA,TECTA | c.3906C>T (p.Ser1302=) c.1213C>T n.471C>T c.4863C>T (p.Ser1621=) | |
11 | g.121145918C>A | CA383022762 | TBCEL-TECTA,TECTA | c.3907C>A (p.Leu1303Met) c.1214C>A n.472C>A c.4864C>A (p.Leu1622Met) | |
11 | g.121145918C>G | CA383022763 | TBCEL-TECTA,TECTA | c.3907C>G (p.Leu1303Val) c.1214C>G n.472C>G c.4864C>G (p.Leu1622Val) | |
11 | g.121145918C>T | CA477382945 | TBCEL-TECTA,TECTA | c.3907C>T (p.Leu1303=) c.1214C>T n.472C>T c.4864C>T (p.Leu1622=) | |
11 | g.121145919T>A | CA383022764 | TBCEL-TECTA,TECTA | c.3908T>A (p.Leu1303Gln) c.1215T>A n.473T>A c.4865T>A (p.Leu1622Gln) | |
11 | g.121145919T>C | CA383022765 | TBCEL-TECTA,TECTA | c.3908T>C (p.Leu1303Pro) c.1215T>C n.473T>C c.4865T>C (p.Leu1622Pro) | |
11 | g.121145919T>G | CA383022766 | TBCEL-TECTA,TECTA | c.3908T>G (p.Leu1303Arg) c.1215T>G n.473T>G c.4865T>G (p.Leu1622Arg) | |
11 | g.121145920G>A | CA477382946 | TBCEL-TECTA,TECTA | c.3909G>A (p.Leu1303=) c.1216G>A n.474G>A c.4866G>A (p.Leu1622=) | |
11 | g.121145920G>C | CA477382947 | TBCEL-TECTA,TECTA | c.3909G>C (p.Leu1303=) c.1216G>C n.474G>C c.4866G>C (p.Leu1622=) | |
11 | g.121145920G>T | CA477382948 | TBCEL-TECTA,TECTA | c.3909G>T (p.Leu1303=) c.1216G>T n.474G>T c.4866G>T (p.Leu1622=) | |
11 | g.121145921A= | CA2004737591 | TBCEL-TECTA,TECTA | c.3910A= (p.Ile1304=) c.1217A= n.475A= c.4867A= (p.Ile1623=) | |
11 | g.121145921A>C | CA383022767 | TBCEL-TECTA,TECTA | c.3910A>C (p.Ile1304Leu) c.1217A>C n.475A>C c.4867A>C (p.Ile1623Leu) | |
11 | g.121145921A>G | CA383022768 | TBCEL-TECTA,TECTA | c.3910A>G (p.Ile1304Val) c.1217A>G n.475A>G c.4867A>G (p.Ile1623Val) | |
11 | g.121145921A>T | CA229831649 | TBCEL-TECTA,TECTA | c.3910A>T (p.Ile1304Phe) c.1217A>T n.475A>T c.4867A>T (p.Ile1623Phe) | dbSNP |
11 | g.121145922T>A | CA383022769 | TBCEL-TECTA,TECTA | c.3911T>A (p.Ile1304Asn) c.1218T>A n.476T>A c.4868T>A (p.Ile1623Asn) | |
11 | g.121145922T>C | CA383022770 | TBCEL-TECTA,TECTA | c.3911T>C (p.Ile1304Thr) c.1218T>C n.476T>C c.4868T>C (p.Ile1623Thr) | |
11 | g.121145922T>G | CA383022771 | TBCEL-TECTA,TECTA | c.3911T>G (p.Ile1304Ser) c.1218T>G n.476T>G c.4868T>G (p.Ile1623Ser) | |
11 | g.121145923C>A | CA477382949 | TBCEL-TECTA,TECTA | c.3912C>A (p.Ile1304=) c.1219C>A n.477C>A c.4869C>A (p.Ile1623=) | |
11 | g.121145923C= | CA2004737592 | TBCEL-TECTA,TECTA | c.3912C= (p.Ile1304=) c.1219C= n.477C= c.4869C= (p.Ile1623=) | |
11 | g.121145923C>G | CA383022772 | TBCEL-TECTA,TECTA | c.3912C>G (p.Ile1304Met) c.1219C>G n.477C>G c.4869C>G (p.Ile1623Met) | |
11 | g.121145923C>T | CA477382950 | TBCEL-TECTA,TECTA | c.3912C>T (p.Ile1304=) c.1219C>T n.477C>T c.4869C>T (p.Ile1623=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121145924C>A | CA383022775 | TBCEL-TECTA,TECTA | c.3913C>A (p.Pro1305Thr) c.1220C>A n.478C>A c.4870C>A (p.Pro1624Thr) | |
11 | g.121145924C>G | CA383022774 | TBCEL-TECTA,TECTA | c.3913C>G (p.Pro1305Ala) c.1220C>G n.478C>G c.4870C>G (p.Pro1624Ala) | dbSNP |
11 | g.121145924C>T | CA383022773 | TBCEL-TECTA,TECTA | c.3913C>T (p.Pro1305Ser) c.1220C>T n.478C>T c.4870C>T (p.Pro1624Ser) | |
11 | g.121145925C>A | CA383022776 | TBCEL-TECTA,TECTA | c.3914C>A (p.Pro1305His) c.1221C>A n.479C>A c.4871C>A (p.Pro1624His) | |
11 | g.121145925C>G | CA383022777 | TBCEL-TECTA,TECTA | c.3914C>G (p.Pro1305Arg) c.1221C>G n.479C>G c.4871C>G (p.Pro1624Arg) | |
11 | g.121145925C>T | CA383022778 | TBCEL-TECTA,TECTA | c.3914C>T (p.Pro1305Leu) c.1221C>T n.479C>T c.4871C>T (p.Pro1624Leu) | |
11 | g.121145926C>A | CA477382954 | TBCEL-TECTA,TECTA | c.3915C>A (p.Pro1305=) c.1222C>A n.480C>A c.4872C>A (p.Pro1624=) | |
11 | g.121145926C= | CA2004737593 | TBCEL-TECTA,TECTA | c.3915C= (p.Pro1305=) c.1222C= n.480C= c.4872C= (p.Pro1624=) | |
11 | g.121145926C>G | CA477382955 | TBCEL-TECTA,TECTA | c.3915C>G (p.Pro1305=) c.1222C>G n.480C>G c.4872C>G (p.Pro1624=) | |
11 | g.121145926C>T | CA477382953 | TBCEL-TECTA,TECTA | c.3915C>T (p.Pro1305=) c.1222C>T n.480C>T c.4872C>T (p.Pro1624=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
11 | g.121145927A= | CA2004737594 | TBCEL-TECTA,TECTA | c.3916A= (p.Asn1306=) c.1223A= n.481A= c.4873A= (p.Asn1625=) | |
11 | g.121145927A>C | CA383022779 | TBCEL-TECTA,TECTA | c.3916A>C (p.Asn1306His) c.1223A>C n.481A>C c.4873A>C (p.Asn1625His) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.121145927A>G | CA383022780 | TBCEL-TECTA,TECTA | c.3916A>G (p.Asn1306Asp) c.1223A>G n.481A>G c.4873A>G (p.Asn1625Asp) | |
11 | g.121145927A>T | CA383022781 | TBCEL-TECTA,TECTA | c.3916A>T (p.Asn1306Tyr) c.1223A>T n.481A>T c.4873A>T (p.Asn1625Tyr) | |
11 | g.121145928A= | CA2004737595 | TBCEL-TECTA,TECTA | c.3917A= (p.Asn1306=) c.1224A= n.482A= c.4874A= (p.Asn1625=) | |
11 | g.121145928A>C | CA383022782 | TBCEL-TECTA,TECTA | c.3917A>C (p.Asn1306Thr) c.1224A>C n.482A>C c.4874A>C (p.Asn1625Thr) | |
11 | g.121145928A>G | CA6327310 | TBCEL-TECTA,TECTA | c.3917A>G (p.Asn1306Ser) c.1224A>G n.482A>G c.4874A>G (p.Asn1625Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121145928A>T | CA6327311 | TBCEL-TECTA,TECTA | c.3917A>T (p.Asn1306Ile) c.1224A>T n.482A>T c.4874A>T (p.Asn1625Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121145929C>A | CA383022783 | TBCEL-TECTA,TECTA | c.3918C>A (p.Asn1306Lys) c.1225C>A n.483C>A c.4875C>A (p.Asn1625Lys) | gnomAD v4 |
11 | g.121145929C= | CA2004737596 | TBCEL-TECTA,TECTA | c.3918C= (p.Asn1306=) c.1225C= n.483C= c.4875C= (p.Asn1625=) | |
11 | g.121145929C>G | CA383022784 | TBCEL-TECTA,TECTA | c.3918C>G (p.Asn1306Lys) c.1225C>G n.483C>G c.4875C>G (p.Asn1625Lys) | gnomAD v4 |
11 | g.121145929C>T | CA477382958 | TBCEL-TECTA,TECTA | c.3918C>T (p.Asn1306=) c.1225C>T n.483C>T c.4875C>T (p.Asn1625=) | dbSNP |
11 | g.121145930C>A | CA383022785 | TBCEL-TECTA,TECTA | c.3919C>A (p.Gln1307Lys) c.1226C>A n.484C>A c.4876C>A (p.Gln1626Lys) | |
11 | g.121145930C>G | CA383022786 | TBCEL-TECTA,TECTA | c.3919C>G (p.Gln1307Glu) c.1226C>G n.484C>G c.4876C>G (p.Gln1626Glu) | |
11 | g.121145930C>T | CA383022787 | TBCEL-TECTA,TECTA | c.3919C>T (p.Gln1307Ter) c.1226C>T n.484C>T c.4876C>T (p.Gln1626Ter) | |
11 | g.121145931A>C | CA383022788 | TBCEL-TECTA,TECTA | c.3920A>C (p.Gln1307Pro) c.1227A>C n.485A>C c.4877A>C (p.Gln1626Pro) | |
11 | g.121145931A>G | CA383022789 | TBCEL-TECTA,TECTA | c.3920A>G (p.Gln1307Arg) c.1227A>G n.485A>G c.4877A>G (p.Gln1626Arg) | |
11 | g.121145931A>T | CA383022790 | TBCEL-TECTA,TECTA | c.3920A>T (p.Gln1307Leu) c.1227A>T n.485A>T c.4877A>T (p.Gln1626Leu) | |
11 | g.121145932G>A | CA477382961 | TBCEL-TECTA,TECTA | c.3921G>A (p.Gln1307=) c.1228G>A n.486G>A c.4878G>A (p.Gln1626=) | |
11 | g.121145932G>C | CA383022791 | TBCEL-TECTA,TECTA | c.3921G>C (p.Gln1307His) c.1228G>C n.486G>C c.4878G>C (p.Gln1626His) | |
11 | g.121145932G>T | CA383022792 | TBCEL-TECTA,TECTA | c.3921G>T (p.Gln1307His) c.1228G>T n.486G>T c.4878G>T (p.Gln1626His) | |
11 | g.121145933A>C | CA383022793 | TBCEL-TECTA,TECTA | c.3922A>C (p.Asn1308His) c.1229A>C n.487A>C c.4879A>C (p.Asn1627His) | |
11 | g.121145933A>G | CA383022794 | TBCEL-TECTA,TECTA | c.3922A>G (p.Asn1308Asp) c.1229A>G n.487A>G c.4879A>G (p.Asn1627Asp) | |
11 | g.121145933A>T | CA383022795 | TBCEL-TECTA,TECTA | c.3922A>T (p.Asn1308Tyr) c.1229A>T n.487A>T c.4879A>T (p.Asn1627Tyr) | |
11 | g.121145933_121145942delinsAACGCTGCCT | CA2004737597 | TBCEL-TECTA,TECTA | c.3922_3931delinsAACGCTGCCT (p.Asn1308=) c.1229_1238delinsAACGCTGCCT n.487_496delinsAACGCTGCCT c.4879_4888delinsAACGCTGCCT (p.Asn1627=) | |
11 | g.121145934A>C | CA383022796 | TBCEL-TECTA,TECTA | c.3923A>C (p.Asn1308Thr) c.1230A>C n.488A>C c.4880A>C (p.Asn1627Thr) | |
11 | g.121145934A>G | CA383022797 | TBCEL-TECTA,TECTA | c.3923A>G (p.Asn1308Ser) c.1230A>G n.488A>G c.4880A>G (p.Asn1627Ser) | |
11 | g.121145934A>T | CA383022798 | TBCEL-TECTA,TECTA | c.3923A>T (p.Asn1308Ile) c.1230A>T n.488A>T c.4880A>T (p.Asn1627Ile) | |
11 | g.121145934_121145942del | CA2004737598 | TBCEL-TECTA,TECTA | c.3923_3931del (p.Asn1308_Phe1311delinsIle) c.1230_1238del n.488_496del c.4880_4888del (p.Asn1627_Phe1630delinsIle) | dbSNP |
11 | g.121145935C>A | CA383022799 | TBCEL-TECTA,TECTA | c.3924C>A (p.Asn1308Lys) c.1231C>A n.489C>A c.4881C>A (p.Asn1627Lys) | |
11 | g.121145935C= | CA2004737599 | TBCEL-TECTA,TECTA | c.3924C= (p.Asn1308=) c.1231C= n.489C= c.4881C= (p.Asn1627=) | |
11 | g.121145935C>G | CA383022800 | TBCEL-TECTA,TECTA | c.3924C>G (p.Asn1308Lys) c.1231C>G n.489C>G c.4881C>G (p.Asn1627Lys) | |
11 | g.121145935C>T | CA229831666 | TBCEL-TECTA,TECTA | c.3924C>T (p.Asn1308=) c.1231C>T n.489C>T c.4881C>T (p.Asn1627=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121145936G>A | CA183713 | TBCEL-TECTA,TECTA | c.3925G>A (p.Ala1309Thr) c.1232G>A n.490G>A c.4882G>A (p.Ala1628Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121145936G>C | CA383022801 | TBCEL-TECTA,TECTA | c.3925G>C (p.Ala1309Pro) c.1232G>C n.490G>C c.4882G>C (p.Ala1628Pro) | |
11 | g.121145936G= | CA2004737600 | TBCEL-TECTA,TECTA | c.3925G= (p.Ala1309=) c.1232G= n.490G= c.4882G= (p.Ala1628=) | |
11 | g.121145936G>T | CA6327312 | TBCEL-TECTA,TECTA | c.3925G>T (p.Ala1309Ser) c.1232G>T n.490G>T c.4882G>T (p.Ala1628Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121145937C>A | CA383022802 | TBCEL-TECTA,TECTA | c.3926C>A (p.Ala1309Asp) c.1233C>A n.491C>A c.4883C>A (p.Ala1628Asp) | gnomAD v4 |
11 | g.121145937C>G | CA383022803 | TBCEL-TECTA,TECTA | c.3926C>G (p.Ala1309Gly) c.1233C>G n.491C>G c.4883C>G (p.Ala1628Gly) | |
11 | g.121145937C>T | CA383022804 | TBCEL-TECTA,TECTA | c.3926C>T (p.Ala1309Val) c.1233C>T n.491C>T c.4883C>T (p.Ala1628Val) | |
11 | g.121145938T>A | CA477382970 | TBCEL-TECTA,TECTA | c.3927T>A (p.Ala1309=) c.1234T>A n.492T>A c.4884T>A (p.Ala1628=) | gnomAD v4 |
11 | g.121145938T>C | CA477382971 | TBCEL-TECTA,TECTA | c.3927T>C (p.Ala1309=) c.1234T>C n.492T>C c.4884T>C (p.Ala1628=) | |
11 | g.121145938T>G | CA477382969 | TBCEL-TECTA,TECTA | c.3927T>G (p.Ala1309=) c.1234T>G n.492T>G c.4884T>G (p.Ala1628=) | |
11 | g.121145939G>A | CA383022805 | TBCEL-TECTA,TECTA | c.3928G>A (p.Ala1310Thr) c.1235G>A n.493G>A c.4885G>A (p.Ala1629Thr) | |
11 | g.121145939G>C | CA383022806 | TBCEL-TECTA,TECTA | c.3928G>C (p.Ala1310Pro) c.1235G>C n.493G>C c.4885G>C (p.Ala1629Pro) | |
11 | g.121145939G>T | CA383022807 | TBCEL-TECTA,TECTA | c.3928G>T (p.Ala1310Ser) c.1235G>T n.493G>T c.4885G>T (p.Ala1629Ser) | COSMIC |
11 | g.121145940C>A | CA383022808 | TBCEL-TECTA,TECTA | c.3929C>A (p.Ala1310Asp) c.1236C>A n.494C>A c.4886C>A (p.Ala1629Asp) | |
11 | g.121145940C>G | CA383022809 | TBCEL-TECTA,TECTA | c.3929C>G (p.Ala1310Gly) c.1236C>G n.494C>G c.4886C>G (p.Ala1629Gly) | |
11 | g.121145940C>T | CA383022810 | TBCEL-TECTA,TECTA | c.3929C>T (p.Ala1310Val) c.1236C>T n.494C>T c.4886C>T (p.Ala1629Val) | |
11 | g.121145941C>A | CA477382973 | TBCEL-TECTA,TECTA | c.3930C>A (p.Ala1310=) c.1237C>A n.495C>A c.4887C>A (p.Ala1629=) | |
11 | g.121145941C>G | CA477382974 | TBCEL-TECTA,TECTA | c.3930C>G (p.Ala1310=) c.1237C>G n.495C>G c.4887C>G (p.Ala1629=) | |
11 | g.121145941C>T | CA477382976 | TBCEL-TECTA,TECTA | c.3930C>T (p.Ala1310=) c.1237C>T n.495C>T c.4887C>T (p.Ala1629=) | |
11 | g.121145942T>A | CA383022811 | TBCEL-TECTA,TECTA | c.3931T>A (p.Phe1311Ile) c.1238T>A n.496T>A c.4888T>A (p.Phe1630Ile) | |
11 | g.121145942T>C | CA383022813 | TBCEL-TECTA,TECTA | c.3931T>C (p.Phe1311Leu) c.1238T>C n.496T>C c.4888T>C (p.Phe1630Leu) | |
11 | g.121145942T>G | CA383022812 | TBCEL-TECTA,TECTA | c.3931T>G (p.Phe1311Val) c.1238T>G n.496T>G c.4888T>G (p.Phe1630Val) | |
11 | g.121145943T>A | CA383022814 | TBCEL-TECTA,TECTA | c.3932T>A (p.Phe1311Tyr) c.1239T>A n.497T>A c.4889T>A (p.Phe1630Tyr) | |
11 | g.121145943T>C | CA383022815 | TBCEL-TECTA,TECTA | c.3932T>C (p.Phe1311Ser) c.1239T>C n.497T>C c.4889T>C (p.Phe1630Ser) | |
11 | g.121145943T>G | CA383022816 | TBCEL-TECTA,TECTA | c.3932T>G (p.Phe1311Cys) c.1239T>G n.497T>G c.4889T>G (p.Phe1630Cys) | |
11 | g.121145944C>A | CA383022817 | TBCEL-TECTA,TECTA | c.3933C>A (p.Phe1311Leu) c.1240C>A n.498C>A c.4890C>A (p.Phe1630Leu) | gnomAD v4 |
11 | g.121145944C= | CA2004737601 | TBCEL-TECTA,TECTA | c.3933C= (p.Phe1311=) c.1240C= n.498C= c.4890C= (p.Phe1630=) | |
11 | g.121145944C>G | CA6327313 | TBCEL-TECTA,TECTA | c.3933C>G (p.Phe1311Leu) c.1240C>G n.498C>G c.4890C>G (p.Phe1630Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121145944C>T | CA477382981 | TBCEL-TECTA,TECTA | c.3933C>T (p.Phe1311=) c.1240C>T n.498C>T c.4890C>T (p.Phe1630=) | dbSNP |
11 | g.121145945T>A | CA383022818 | TBCEL-TECTA,TECTA | c.3934T>A (p.Ser1312Thr) c.1241T>A n.499T>A c.4891T>A (p.Ser1631Thr) | |
11 | g.121145945T>C | CA383022819 | TBCEL-TECTA,TECTA | c.3934T>C (p.Ser1312Pro) c.1241T>C n.499T>C c.4891T>C (p.Ser1631Pro) | |
11 | g.121145945T>G | CA383022820 | TBCEL-TECTA,TECTA | c.3934T>G (p.Ser1312Ala) c.1241T>G n.499T>G c.4891T>G (p.Ser1631Ala) | |
11 | g.121145946C>A | CA383022821 | TBCEL-TECTA,TECTA | c.3935C>A (p.Ser1312Tyr) c.1242C>A n.500C>A c.4892C>A (p.Ser1631Tyr) | |
11 | g.121145946C>G | CA383022822 | TBCEL-TECTA,TECTA | c.3935C>G (p.Ser1312Cys) c.1242C>G n.500C>G c.4892C>G (p.Ser1631Cys) | |
11 | g.121145946C>T | CA383022823 | TBCEL-TECTA,TECTA | c.3935C>T (p.Ser1312Phe) c.1242C>T n.500C>T c.4892C>T (p.Ser1631Phe) | gnomAD v4 |
11 | g.121145947C>A | CA477382986 | TBCEL-TECTA,TECTA | c.3936C>A (p.Ser1312=) c.1243C>A n.501C>A c.4893C>A (p.Ser1631=) | |
11 | g.121145947C= | CA2004737602 | TBCEL-TECTA,TECTA | c.3936C= (p.Ser1312=) c.1243C= n.501C= c.4893C= (p.Ser1631=) | |
11 | g.121145947C>G | CA477382987 | TBCEL-TECTA,TECTA | c.3936C>G (p.Ser1312=) c.1243C>G n.501C>G c.4893C>G (p.Ser1631=) | |
11 | g.121145947C>T | CA6327314 | TBCEL-TECTA,TECTA | c.3936C>T (p.Ser1312=) c.1243C>T n.501C>T c.4893C>T (p.Ser1631=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121145948A>C | CA383022825 | TBCEL-TECTA,TECTA | c.3937A>C (p.Lys1313Gln) c.1244A>C n.502A>C c.4894A>C (p.Lys1632Gln) | |
11 | g.121145948A>G | CA383022826 | TBCEL-TECTA,TECTA | c.3937A>G (p.Lys1313Glu) c.1244A>G n.502A>G c.4894A>G (p.Lys1632Glu) | |
11 | g.121145948A>T | CA383022824 | TBCEL-TECTA,TECTA | c.3937A>T (p.Lys1313Ter) c.1244A>T n.502A>T c.4894A>T (p.Lys1632Ter) | |
11 | g.121145948_121145949insGCTCT | CA2616488597 | TBCEL-TECTA,TECTA | c.3937_3938insGCTCT (p.Lys1313SerfsTer?) c.1244_1245insGCTCT n.502_503insGCTCT c.4894_4895insGCTCT (p.Lys1632SerfsTer?) | gnomAD v4 |
11 | g.121145949A= | CA2004737603 | TBCEL-TECTA,TECTA | c.3938A= (p.Lys1313=) c.1245A= n.503A= c.4895A= (p.Lys1632=) | |
11 | g.121145949A>C | CA383022827 | TBCEL-TECTA,TECTA | c.3938A>C (p.Lys1313Thr) c.1245A>C n.503A>C c.4895A>C (p.Lys1632Thr) | |
11 | g.121145949A>G | CA383022828 | TBCEL-TECTA,TECTA | c.3938A>G (p.Lys1313Arg) c.1245A>G n.503A>G c.4895A>G (p.Lys1632Arg) | dbSNP gnomAD v4 |
11 | g.121145949A>T | CA383022829 | TBCEL-TECTA,TECTA | c.3938A>T (p.Lys1313Met) c.1245A>T n.503A>T c.4895A>T (p.Lys1632Met) | |
11 | g.121145949_121145950insTCTGCCCCTGAAGCTGGGGCAAGGGAAGATAAATATCTTTTCCTTTGGCTTCCACGTGGTG | CA2616488598 | TBCEL-TECTA,TECTA | c.3938_3939insTCTGCCCCTGAAGCTGGGGCAAGGGAAGATAAATATCTTTTCCTTTGGCTTCCACGTGGTG (p.Lys1313AsnfsTer27) c.1245_1246insTCTGCCCCTGAAGCTGGGGCAAGGGAAGATAAATATCTTTTCCTTTGGCTTCCACGTGGTG n.503_504insTCTGCCCCTGAAGCTGGGGCAAGGGAAGATAAATATCTTTTCCTTTGGCTTCCACGTGGTG c.4895_4896insTCTGCCCCTGAAGCTGGGGCAAGGGAAGATAAATATCTTTTCCTTTGGCTTCCACGTGGTG (p.Lys1632AsnfsTer27) | gnomAD v4 |
11 | g.121145950G>A | CA477382991 | TBCEL-TECTA,TECTA | c.3939G>A (p.Lys1313=) c.1246G>A n.504G>A c.4896G>A (p.Lys1632=) | gnomAD v4 |
11 | g.121145950G>C | CA383022830 | TBCEL-TECTA,TECTA | c.3939G>C (p.Lys1313Asn) c.1246G>C n.504G>C c.4896G>C (p.Lys1632Asn) | |
11 | g.121145950G>T | CA383022831 | TBCEL-TECTA,TECTA | c.3939G>T (p.Lys1313Asn) c.1246G>T n.504G>T c.4896G>T (p.Lys1632Asn) | |
11 | g.121145951T>A | CA383022833 | TBCEL-TECTA,TECTA | c.3940T>A (p.Cys1314Ser) c.1247T>A n.505T>A c.4897T>A (p.Cys1633Ser) | dbSNP gnomAD v4 |
11 | g.121145951T>C | CA6327315 | TBCEL-TECTA,TECTA | c.3940T>C (p.Cys1314Arg) c.1247T>C n.505T>C c.4897T>C (p.Cys1633Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.121145951T>G | CA383022832 | TBCEL-TECTA,TECTA | c.3940T>G (p.Cys1314Gly) c.1247T>G n.505T>G c.4897T>G (p.Cys1633Gly) | |
11 | g.121145951T= | CA2004737604 | TBCEL-TECTA,TECTA | c.3940T= (p.Cys1314=) c.1247T= n.505T= c.4897T= (p.Cys1633=) | |
11 | g.121145952G>A | CA383022834 | TBCEL-TECTA,TECTA | c.3941G>A (p.Cys1314Tyr) c.1248G>A n.506G>A c.4898G>A (p.Cys1633Tyr) | |
11 | g.121145952G>C | CA383022835 | TBCEL-TECTA,TECTA | c.3941G>C (p.Cys1314Ser) c.1248G>C n.506G>C c.4898G>C (p.Cys1633Ser) | |
11 | g.121145952G>T | CA383022836 | TBCEL-TECTA,TECTA | c.3941G>T (p.Cys1314Phe) c.1248G>T n.506G>T c.4898G>T (p.Cys1633Phe) | |
11 | g.121145953T>A | CA229831697 | TBCEL-TECTA,TECTA | c.3942T>A (p.Cys1314Ter) c.1249T>A n.507T>A c.4899T>A (p.Cys1633Ter) | dbSNP |
11 | g.121145953T>C | CA477382998 | TBCEL-TECTA,TECTA | c.3942T>C (p.Cys1314=) c.1249T>C n.507T>C c.4899T>C (p.Cys1633=) | |
11 | g.121145953T>G | CA383022837 | TBCEL-TECTA,TECTA | c.3942T>G (p.Cys1314Trp) c.1249T>G n.507T>G c.4899T>G (p.Cys1633Trp) | |
11 | g.121145953T= | CA2004737605 | TBCEL-TECTA,TECTA | c.3942T= (p.Cys1314=) c.1249T= n.507T= c.4899T= (p.Cys1633=) | |
11 | g.121145954C>A | CA383022840 | TBCEL-TECTA,TECTA | c.3943C>A (p.His1315Asn) c.1250C>A n.508C>A c.4900C>A (p.His1634Asn) | |
11 | g.121145954C>G | CA383022838 | TBCEL-TECTA,TECTA | c.3943C>G (p.His1315Asp) c.1250C>G n.508C>G c.4900C>G (p.His1634Asp) | |
11 | g.121145954C>T | CA383022839 | TBCEL-TECTA,TECTA | c.3943C>T (p.His1315Tyr) c.1250C>T n.508C>T c.4900C>T (p.His1634Tyr) | |
11 | g.121145955A>C | CA383022841 | TBCEL-TECTA,TECTA | c.3944A>C (p.His1315Pro) c.1251A>C n.509A>C c.4901A>C (p.His1634Pro) | |
11 | g.121145955A>G | CA383022842 | TBCEL-TECTA,TECTA | c.3944A>G (p.His1315Arg) c.1251A>G n.509A>G c.4901A>G (p.His1634Arg) | |
11 | g.121145955A>T | CA383022843 | TBCEL-TECTA,TECTA | c.3944A>T (p.His1315Leu) c.1251A>T n.509A>T c.4901A>T (p.His1634Leu) | COSMIC |
11 | g.121145956C>A | CA383022844 | TBCEL-TECTA,TECTA | c.3945C>A (p.His1315Gln) c.1252C>A n.510C>A c.4902C>A (p.His1634Gln) | |
11 | g.121145956C= | CA2004737606 | TBCEL-TECTA,TECTA | c.3945C= (p.His1315=) c.1252C= n.510C= c.4902C= (p.His1634=) | |
11 | g.121145956C>G | CA383022845 | TBCEL-TECTA,TECTA | c.3945C>G (p.His1315Gln) c.1252C>G n.510C>G c.4902C>G (p.His1634Gln) | |
11 | g.121145956C>T | CA6327316 | TBCEL-TECTA,TECTA | c.3945C>T (p.His1315=) c.1252C>T n.510C>T c.4902C>T (p.His1634=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121145957A>C | CA383022848 | TBCEL-TECTA,TECTA | c.3946A>C (p.Ser1316Arg) c.1253A>C n.511A>C c.4903A>C (p.Ser1635Arg) | |
11 | g.121145957A>G | CA383022847 | TBCEL-TECTA,TECTA | c.3946A>G (p.Ser1316Gly) c.1253A>G n.511A>G c.4903A>G (p.Ser1635Gly) | |
11 | g.121145957A>T | CA383022846 | TBCEL-TECTA,TECTA | c.3946A>T (p.Ser1316Cys) c.1253A>T n.511A>T c.4903A>T (p.Ser1635Cys) | |
11 | g.121145958G>A | CA383022849 | TBCEL-TECTA,TECTA | c.3947G>A (p.Ser1316Asn) c.1254G>A n.512G>A c.4904G>A (p.Ser1635Asn) | dbSNP gnomAD v4 |
11 | g.121145958G>C | CA383022850 | TBCEL-TECTA,TECTA | c.3947G>C (p.Ser1316Thr) c.1254G>C n.512G>C c.4904G>C (p.Ser1635Thr) | ClinVar dbSNP |
11 | g.121145958G= | CA2004737607 | TBCEL-TECTA,TECTA | c.3947G= (p.Ser1316=) c.1254G= n.512G= c.4904G= (p.Ser1635=) | |
11 | g.121145958G>T | CA383022851 | TBCEL-TECTA,TECTA | c.3947G>T (p.Ser1316Ile) c.1254G>T n.512G>T c.4904G>T (p.Ser1635Ile) | |
11 | g.121145959C>A | CA383022852 | TBCEL-TECTA,TECTA | c.3948C>A (p.Ser1316Arg) c.1255C>A n.513C>A c.4905C>A (p.Ser1635Arg) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.121145959C= | CA2004737608 | TBCEL-TECTA,TECTA | c.3948C= (p.Ser1316=) c.1255C= n.513C= c.4905C= (p.Ser1635=) | |
11 | g.121145959C>G | CA383022853 | TBCEL-TECTA,TECTA | c.3948C>G (p.Ser1316Arg) c.1255C>G n.513C>G c.4905C>G (p.Ser1635Arg) | |
11 | g.121145959C>T | CA477383002 | TBCEL-TECTA,TECTA | c.3948C>T (p.Ser1316=) c.1255C>T n.513C>T c.4905C>T (p.Ser1635=) | |
11 | g.121145959_121145961delinsCAA | CA2004737609 | TBCEL-TECTA,TECTA | c.3948_3950delinsCAA (p.Ser1316=) c.1255_1257delinsCAA n.513_515delinsCAA c.4905_4907delinsCAA (p.Ser1635=) | |
11 | g.121145960A>C | CA383022856 | TBCEL-TECTA,TECTA | c.3949A>C (p.Lys1317Gln) c.1256A>C n.514A>C c.4906A>C (p.Lys1636Gln) | |
11 | g.121145960A>G | CA383022854 | TBCEL-TECTA,TECTA | c.3949A>G (p.Lys1317Glu) c.1256A>G n.514A>G c.4906A>G (p.Lys1636Glu) | |
11 | g.121145960A>T | CA383022855 | TBCEL-TECTA,TECTA | c.3949A>T (p.Lys1317Ter) c.1256A>T n.514A>T c.4906A>T (p.Lys1636Ter) | |
11 | g.121145961_121145962del | CA229831701 | TBCEL-TECTA,TECTA | c.3950_3951del (p.Lys1317SerfsTer2) c.1257_1258del n.515_516del c.4907_4908del (p.Lys1636SerfsTer2) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.121145961A>C | CA383022857 | TBCEL-TECTA,TECTA | c.3950A>C (p.Lys1317Thr) c.1257A>C n.515A>C c.4907A>C (p.Lys1636Thr) | |
11 | g.121145961A>G | CA383022858 | TBCEL-TECTA,TECTA | c.3950A>G (p.Lys1317Arg) c.1257A>G n.515A>G c.4907A>G (p.Lys1636Arg) | |
11 | g.121145961A>T | CA383022859 | TBCEL-TECTA,TECTA | c.3950A>T (p.Lys1317Ile) c.1257A>T n.515A>T c.4907A>T (p.Lys1636Ile) | |
11 | g.121145962A>C | CA383022860 | TBCEL-TECTA,TECTA | c.3951A>C (p.Lys1317Asn) c.1258A>C n.516A>C c.4908A>C (p.Lys1636Asn) | |
11 | g.121145962A>G | CA477383120 | TBCEL-TECTA,TECTA | c.3951A>G (p.Lys1317=) c.1258A>G n.516A>G c.4908A>G (p.Lys1636=) | |
11 | g.121145962A>T | CA383022861 | TBCEL-TECTA,TECTA | c.3951A>T (p.Lys1317Asn) c.1258A>T n.516A>T c.4908A>T (p.Lys1636Asn) |