Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.53973795_53973816delinsCGGCCTCGGGACTGGCGTCCCG | CA2037241225 | HOTAIR,HOXC11 | c.554_575delinsCGGCCTCGGGACTGGCGTCCCG (p.Pro185=) n.59+1082_59+1103delinsCGGGACGCCAGTCCCGAGGCCG | |
12 | g.53973799_53973819del | CA919091698 | HOTAIR,HOXC11 | c.558_578del (p.Ser187_Ala193del) n.59+1082_59+1102del | dbSNP |
12 | g.53973805_53973815del | CA2796041907 | HOTAIR,HOXC11 | c.564_574del (p.Leu189GlyfsTer2) n.59+1083_59+1093del | |
12 | g.53973806_53973825del | CA2619096609 | HOTAIR,HOXC11 | c.565_584del (p.Leu189GlyfsTer7) n.59+1073_59+1092del | gnomAD v4 |
12 | g.53973810_53973815del | CA1139655183 | HOTAIR,HOXC11 | c.569_574del (p.Ala190_Arg192delinsGly) n.59+1083_59+1088del | gnomAD v4 |
12 | g.53973812T>A | CA385105550 | HOTAIR,HOXC11 | c.571T>A (p.Ser191Thr) n.59+1086A>T | |
12 | g.53973812T>C | CA385105549 | HOTAIR,HOXC11 | c.571T>C (p.Ser191Pro) n.59+1086A>G | |
12 | g.53973812T>G | CA385105553 | HOTAIR,HOXC11 | c.571T>G (p.Ser191Ala) n.59+1086A>C | gnomAD v3 gnomAD v4 |
12 | g.53973812_53973815del | CA2619096633 | HOTAIR,HOXC11 | c.571_574del (p.Ser191GlyfsTer?) n.59+1083_59+1086del | gnomAD v4 |
12 | g.53973813C>A | CA385105557 | HOTAIR,HOXC11 | c.572C>A (p.Ser191Tyr) n.59+1085G>T | |
12 | g.53973813C= | CA2037241249 | HOTAIR,HOXC11 | c.572C= (p.Ser191=) n.59+1085G= | |
12 | g.53973813C>G | CA385105559 | HOTAIR,HOXC11 | c.572C>G (p.Ser191Cys) n.59+1085G>C | gnomAD v4 |
12 | g.53973813C>T | CA6604271 | HOTAIR,HOXC11 | c.572C>T (p.Ser191Phe) n.59+1085G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.53973814C>A | CA479965414 | HOTAIR,HOXC11 | c.573C>A (p.Ser191=) n.59+1084G>T | gnomAD v4 |
12 | g.53973814C= | CA2037241251 | HOTAIR,HOXC11 | c.573C= (p.Ser191=) n.59+1084G= | |
12 | g.53973814C>G | CA6604272 | HOTAIR,HOXC11 | c.573C>G (p.Ser191=) n.59+1084G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.53973814C>T | CA479965413 | HOTAIR,HOXC11 | c.573C>T (p.Ser191=) n.59+1084G>A | |
12 | g.53973815C>A | CA237398059 | HOTAIR,HOXC11 | c.574C>A (p.Arg192=) n.59+1083G>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.53973815C= | CA2037241255 | HOTAIR,HOXC11 | c.574C= (p.Arg192=) n.59+1083G= | |
12 | g.53973815C>G | CA6604273 | HOTAIR,HOXC11 | c.574C>G (p.Arg192Gly) n.59+1083G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.53973815C>T | CA6604274 | HOTAIR,HOXC11 | c.574C>T (p.Arg192Trp) n.59+1083G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.53973816G>A | CA385105570 | HOTAIR,HOXC11 | c.575G>A (p.Arg192Gln) n.59+1082C>T | |
12 | g.53973816G>C | CA385105571 | HOTAIR,HOXC11 | c.575G>C (p.Arg192Pro) n.59+1082C>G | gnomAD v3 gnomAD v4 |
12 | g.53973816G>T | CA385105572 | HOTAIR,HOXC11 | c.575G>T (p.Arg192Leu) n.59+1082C>A | gnomAD v4 |
12 | g.53973817G>A | CA479965415 | HOTAIR,HOXC11 | c.576G>A (p.Arg192=) n.59+1081C>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.53973817G>C | CA479965416 | HOTAIR,HOXC11 | c.576G>C (p.Arg192=) n.59+1081C>G | dbSNP gnomAD v3 gnomAD v4 |
12 | g.53973817G= | CA2037241257 | HOTAIR,HOXC11 | c.576G= (p.Arg192=) n.59+1081C= | |
12 | g.53973817G>T | CA479965417 | HOTAIR,HOXC11 | c.576G>T (p.Arg192=) n.59+1081C>A | gnomAD v4 |
12 | g.53973818G>A | CA385105573 | HOTAIR,HOXC11 | c.577G>A (p.Ala193Thr) n.59+1080C>T | |
12 | g.53973818G>C | CA385105575 | HOTAIR,HOXC11 | c.577G>C (p.Ala193Pro) n.59+1080C>G | |
12 | g.53973818G>T | CA385105576 | HOTAIR,HOXC11 | c.577G>T (p.Ala193Ser) n.59+1080C>A | |
12 | g.53973819C>A | CA385105580 | HOTAIR,HOXC11 | c.578C>A (p.Ala193Asp) n.59+1079G>T | gnomAD v4 |
12 | g.53973819C>G | CA385105581 | HOTAIR,HOXC11 | c.578C>G (p.Ala193Gly) n.59+1079G>C | |
12 | g.53973819C>T | CA385105582 | HOTAIR,HOXC11 | c.578C>T (p.Ala193Val) n.59+1079G>A | |
12 | g.53973819_53973820del | CA1139770131 | HOTAIR,HOXC11 | c.578_579del (p.Ala193GlyfsTer9) n.59+1078_59+1079del | gnomAD v4 |
12 | g.53973819_53973822del | CA2619096654 | HOTAIR,HOXC11 | c.578_581del (p.Ala193GlyfsTer?) n.59+1076_59+1079del | gnomAD v4 |
12 | g.53973819_53973825del | CA1139655190 | HOTAIR,HOXC11 | c.578_584del (p.Ala193GlyfsTer?) n.59+1073_59+1079del | |
12 | g.53973820T>A | CA479965420 | HOTAIR,HOXC11 | c.579T>A (p.Ala193=) n.59+1078A>T | |
12 | g.53973820T>C | CA479965419 | HOTAIR,HOXC11 | c.579T>C (p.Ala193=) n.59+1078A>G | |
12 | g.53973820T>G | CA479965418 | HOTAIR,HOXC11 | c.579T>G (p.Ala193=) n.59+1078A>C | gnomAD v4 |
12 | g.53973821G>A | CA385105587 | HOTAIR,HOXC11 | c.580G>A (p.Glu194Lys) n.59+1077C>T | dbSNP gnomAD v2 COSMIC |
12 | g.53973821G>C | CA385105585 | HOTAIR,HOXC11 | c.580G>C (p.Glu194Gln) n.59+1077C>G | |
12 | g.53973821G= | CA2037241259 | HOTAIR,HOXC11 | c.580G= (p.Glu194=) n.59+1077C= | |
12 | g.53973821G>T | CA385105584 | HOTAIR,HOXC11 | c.580G>T (p.Glu194Ter) n.59+1077C>A | gnomAD v4 |
12 | g.53973826_53973843del | CA2619096664 | HOTAIR,HOXC11 | c.585_602del (p.Gly196_Ala201del) n.59+1060_59+1077del | gnomAD v4 |
12 | g.53973822A>C | CA385105590 | HOTAIR,HOXC11 | c.581A>C (p.Glu194Ala) n.59+1076T>G | |
12 | g.53973822A>G | CA385105592 | HOTAIR,HOXC11 | c.581A>G (p.Glu194Gly) n.59+1076T>C | gnomAD v4 |
12 | g.53973822A>T | CA385105593 | HOTAIR,HOXC11 | c.581A>T (p.Glu194Val) n.59+1076T>A | |
12 | g.53973823G>A | CA6604275 | HOTAIR,HOXC11 | c.582G>A (p.Glu194=) n.59+1075C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.53973823G>C | CA385105602 | HOTAIR,HOXC11 | c.582G>C (p.Glu194Asp) n.59+1075C>G | |
12 | g.53973823G= | CA2037241262 | HOTAIR,HOXC11 | c.582G= (p.Glu194=) n.59+1075C= | |
12 | g.53973823G>T | CA385105603 | HOTAIR,HOXC11 | c.582G>T (p.Glu194Asp) n.59+1075C>A | |
12 | g.53973824G>A | CA385105607 | HOTAIR,HOXC11 | c.583G>A (p.Ala195Thr) n.59+1074C>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.53973824G>C | CA385105608 | HOTAIR,HOXC11 | c.583G>C (p.Ala195Pro) n.59+1074C>G | gnomAD v4 |
12 | g.53973824G= | CA2037241264 | HOTAIR,HOXC11 | c.583G= (p.Ala195=) n.59+1074C= | |
12 | g.53973824G>T | CA385105610 | HOTAIR,HOXC11 | c.583G>T (p.Ala195Ser) n.59+1074C>A | gnomAD v4 |
12 | g.53973825C>A | CA6604277 | HOTAIR,HOXC11 | c.584C>A (p.Ala195Glu) n.59+1073G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.53973825C= | CA2037241265 | HOTAIR,HOXC11 | c.584C= (p.Ala195=) n.59+1073G= | |
12 | g.53973825C>G | CA385105613 | HOTAIR,HOXC11 | c.584C>G (p.Ala195Gly) n.59+1073G>C | gnomAD v4 |
12 | g.53973825C>T | CA6604276 | HOTAIR,HOXC11 | c.584C>T (p.Ala195Val) n.59+1073G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.53973826G>A | CA479965421 | HOTAIR,HOXC11 | c.585G>A (p.Ala195=) n.59+1072C>T | |
12 | g.53973826G>C | CA479965422 | HOTAIR,HOXC11 | c.585G>C (p.Ala195=) n.59+1072C>G | |
12 | g.53973826G>T | CA479965423 | HOTAIR,HOXC11 | c.585G>T (p.Ala195=) n.59+1072C>A | |
12 | g.53973827G>A | CA385105622 | HOTAIR,HOXC11 | c.586G>A (p.Gly196Ser) n.59+1071C>T | |
12 | g.53973827G>C | CA385105620 | HOTAIR,HOXC11 | c.586G>C (p.Gly196Arg) n.59+1071C>G | |
12 | g.53973827G>T | CA385105617 | HOTAIR,HOXC11 | c.586G>T (p.Gly196Cys) n.59+1071C>A | gnomAD v4 |
12 | g.53973828G>A | CA6604278 | HOTAIR,HOXC11 | c.587G>A (p.Gly196Asp) n.59+1070C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.53973828G>C | CA385105625 | HOTAIR,HOXC11 | c.587G>C (p.Gly196Ala) n.59+1070C>G | |
12 | g.53973828G= | CA2037241267 | HOTAIR,HOXC11 | c.587G= (p.Gly196=) n.59+1070C= | |
12 | g.53973828G>T | CA385105627 | HOTAIR,HOXC11 | c.587G>T (p.Gly196Val) n.59+1070C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.53973829T>A | CA479965424 | HOTAIR,HOXC11 | c.588T>A (p.Gly196=) n.59+1069A>T | |
12 | g.53973829T>C | CA479965425 | HOTAIR,HOXC11 | c.588T>C (p.Gly196=) n.59+1069A>G | |
12 | g.53973829T>G | CA479965426 | HOTAIR,HOXC11 | c.588T>G (p.Gly196=) n.59+1069A>C | dbSNP |
12 | g.53973829T= | CA2037241269 | HOTAIR,HOXC11 | c.588T= (p.Gly196=) n.59+1069A= | |
12 | g.53973830G>A | CA6604279 | HOTAIR,HOXC11 | c.589G>A (p.Ala197Thr) n.59+1068C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.53973830G>C | CA385105635 | HOTAIR,HOXC11 | c.589G>C (p.Ala197Pro) n.59+1068C>G | |
12 | g.53973830G= | CA2037241271 | HOTAIR,HOXC11 | c.589G= (p.Ala197=) n.59+1068C= | |
12 | g.53973830G>T | CA385105637 | HOTAIR,HOXC11 | c.589G>T (p.Ala197Ser) n.59+1068C>A | gnomAD v4 |
12 | g.53973831C>A | CA385105639 | HOTAIR,HOXC11 | c.590C>A (p.Ala197Asp) n.59+1067G>T | gnomAD v4 |
12 | g.53973831C= | CA2037241273 | HOTAIR,HOXC11 | c.590C= (p.Ala197=) n.59+1067G= | |
12 | g.53973831C>G | CA385105642 | HOTAIR,HOXC11 | c.590C>G (p.Ala197Gly) n.59+1067G>C | |
12 | g.53973831C>T | CA385105643 | HOTAIR,HOXC11 | c.590C>T (p.Ala197Val) n.59+1067G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.53973832C>A | CA479965427 | HOTAIR,HOXC11 | c.591C>A (p.Ala197=) n.59+1066G>T | |
12 | g.53973832C= | CA2037241274 | HOTAIR,HOXC11 | c.591C= (p.Ala197=) n.59+1066G= | |
12 | g.53973832C>G | CA479965428 | HOTAIR,HOXC11 | c.591C>G (p.Ala197=) n.59+1066G>C | |
12 | g.53973832C>T | CA479965429 | HOTAIR,HOXC11 | c.591C>T (p.Ala197=) n.59+1066G>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.53973833G>A | CA385105647 | HOTAIR,HOXC11 | c.592G>A (p.Glu198Lys) n.59+1065C>T | gnomAD v4 |
12 | g.53973833G>C | CA385105648 | HOTAIR,HOXC11 | c.592G>C (p.Glu198Gln) n.59+1065C>G | gnomAD v4 |
12 | g.53973833G>T | CA385105650 | HOTAIR,HOXC11 | c.592G>T (p.Glu198Ter) n.59+1065C>A | |
12 | g.53973838_53973843dup | CA2037241276 | HOTAIR,HOXC11 | c.597_602dup (p.Ala201_Glu202insGluAla) n.59+1060_59+1065dup | dbSNP |
12 | g.53973834A>C | CA385105657 | HOTAIR,HOXC11 | c.593A>C (p.Glu198Ala) n.59+1064T>G | |
12 | g.53973834A>G | CA385105653 | HOTAIR,HOXC11 | c.593A>G (p.Glu198Gly) n.59+1064T>C | gnomAD v4 |
12 | g.53973834A>T | CA385105656 | HOTAIR,HOXC11 | c.593A>T (p.Glu198Val) n.59+1064T>A | |
12 | g.53973835G>A | CA479965430 | HOTAIR,HOXC11 | c.594G>A (p.Glu198=) n.59+1063C>T | |
12 | g.53973835G>C | CA385105659 | HOTAIR,HOXC11 | c.594G>C (p.Glu198Asp) n.59+1063C>G | |
12 | g.53973835G>T | CA385105660 | HOTAIR,HOXC11 | c.594G>T (p.Glu198Asp) n.59+1063C>A | |
12 | g.53973836G>A | CA385105664 | HOTAIR,HOXC11 | c.595G>A (p.Ala199Thr) n.59+1062C>T | gnomAD v4 |
12 | g.53973836G>C | CA385105667 | HOTAIR,HOXC11 | c.595G>C (p.Ala199Pro) n.59+1062C>G | |
12 | g.53973836G>T | CA385105669 | HOTAIR,HOXC11 | c.595G>T (p.Ala199Ser) n.59+1062C>A | gnomAD v4 |
12 | g.53973837C>A | CA385105672 | HOTAIR,HOXC11 | c.596C>A (p.Ala199Glu) n.59+1061G>T | dbSNP |
12 | g.53973837C= | CA2037241278 | HOTAIR,HOXC11 | c.596C= (p.Ala199=) n.59+1061G= | |
12 | g.53973837C>G | CA385105674 | HOTAIR,HOXC11 | c.596C>G (p.Ala199Gly) n.59+1061G>C | |
12 | g.53973837C>T | CA385105676 | HOTAIR,HOXC11 | c.596C>T (p.Ala199Val) n.59+1061G>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.53973838G>A | CA479965431 | HOTAIR,HOXC11 | c.597G>A (p.Ala199=) n.59+1060C>T | |
12 | g.53973838G>C | CA479965432 | HOTAIR,HOXC11 | c.597G>C (p.Ala199=) n.59+1060C>G | |
12 | g.53973838G>T | CA479965433 | HOTAIR,HOXC11 | c.597G>T (p.Ala199=) n.59+1060C>A | gnomAD v4 |
12 | g.53973838_53973844delinsGGAGGCT | CA2037241280 | HOTAIR,HOXC11 | c.597_603delinsGGAGGCT (p.Ala199=) n.59+1054_59+1060delinsAGCCTCC | |
12 | g.53973839G>A | CA385105679 | HOTAIR,HOXC11 | c.598G>A (p.Glu200Lys) n.59+1059C>T | |
12 | g.53973839G>C | CA385105682 | HOTAIR,HOXC11 | c.598G>C (p.Glu200Gln) n.59+1059C>G | dbSNP gnomAD v2 |
12 | g.53973839G= | CA2037241283 | HOTAIR,HOXC11 | c.598G= (p.Glu200=) n.59+1059C= | |
12 | g.53973839G>T | CA385105683 | HOTAIR,HOXC11 | c.598G>T (p.Glu200Ter) n.59+1059C>A | |
12 | g.53973843_53973848del | CA2037241282 | HOTAIR,HOXC11 | c.602_607del (p.Ala201_Glu202del) n.59+1054_59+1059del | dbSNP |
12 | g.53973840A= | CA2037241285 | HOTAIR,HOXC11 | c.599A= (p.Glu200=) n.59+1058T= | |
12 | g.53973840A>C | CA385105691 | HOTAIR,HOXC11 | c.599A>C (p.Glu200Ala) n.59+1058T>G | dbSNP |
12 | g.53973840A>G | CA385105688 | HOTAIR,HOXC11 | c.599A>G (p.Glu200Gly) n.59+1058T>C | |
12 | g.53973840A>T | CA385105686 | HOTAIR,HOXC11 | c.599A>T (p.Glu200Val) n.59+1058T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.53973841G>A | CA479965434 | HOTAIR,HOXC11 | c.600G>A (p.Glu200=) n.59+1057C>T | |
12 | g.53973841G>C | CA385105693 | HOTAIR,HOXC11 | c.600G>C (p.Glu200Asp) n.59+1057C>G | |
12 | g.53973841G>T | CA385105695 | HOTAIR,HOXC11 | c.600G>T (p.Glu200Asp) n.59+1057C>A | |
12 | g.53973842G>A | CA385105699 | HOTAIR,HOXC11 | c.601G>A (p.Ala201Thr) n.59+1056C>T | dbSNP |
12 | g.53973842G>C | CA385105700 | HOTAIR,HOXC11 | c.601G>C (p.Ala201Pro) n.59+1056C>G | |
12 | g.53973842G= | CA2037241287 | HOTAIR,HOXC11 | c.601G= (p.Ala201=) n.59+1056C= | |
12 | g.53973842G>T | CA385105701 | HOTAIR,HOXC11 | c.601G>T (p.Ala201Ser) n.59+1056C>A | gnomAD v4 |
12 | g.53973843C>A | CA385105704 | HOTAIR,HOXC11 | c.602C>A (p.Ala201Asp) n.59+1055G>T | gnomAD v4 |
12 | g.53973843C>G | CA385105706 | HOTAIR,HOXC11 | c.602C>G (p.Ala201Gly) n.59+1055G>C | |
12 | g.53973843C>T | CA385105708 | HOTAIR,HOXC11 | c.602C>T (p.Ala201Val) n.59+1055G>A | gnomAD v4 |
12 | g.53973844T>A | CA479965435 | HOTAIR,HOXC11 | c.603T>A (p.Ala201=) n.59+1054A>T | |
12 | g.53973844T>C | CA479965436 | HOTAIR,HOXC11 | c.603T>C (p.Ala201=) n.59+1054A>G | |
12 | g.53973844T>G | CA237398072 | HOTAIR,HOXC11 | c.603T>G (p.Ala201=) n.59+1054A>C | dbSNP |
12 | g.53973844T= | CA2037241290 | HOTAIR,HOXC11 | c.603T= (p.Ala201=) n.59+1054A= | |
12 | g.53973844_53973847delinsTGAG | CA2037241289 | HOTAIR,HOXC11 | c.603_606delinsTGAG (p.Ala201=) n.59+1051_59+1054delinsCTCA | |
12 | g.53973845G>A | CA385105720 | HOTAIR,HOXC11 | c.604G>A (p.Glu202Lys) n.59+1053C>T | |
12 | g.53973845G>C | CA385105718 | HOTAIR,HOXC11 | c.604G>C (p.Glu202Gln) n.59+1053C>G | |
12 | g.53973845G>T | CA385105723 | HOTAIR,HOXC11 | c.604G>T (p.Glu202Ter) n.59+1053C>A | |
12 | g.53973851_53973853del | CA6604280 | HOTAIR,HOXC11 | c.610_612del (p.Glu204del) n.59+1051_59+1053del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.53973846A= | CA2037241294 | HOTAIR,HOXC11 | c.605A= (p.Glu202=) n.59+1052T= | |
12 | g.53973846A>C | CA385105725 | HOTAIR,HOXC11 | c.605A>C (p.Glu202Ala) n.59+1052T>G | |
12 | g.53973846A>G | CA385105727 | HOTAIR,HOXC11 | c.605A>G (p.Glu202Gly) n.59+1052T>C | dbSNP gnomAD v4 |
12 | g.53973846A>T | CA385105729 | HOTAIR,HOXC11 | c.605A>T (p.Glu202Val) n.59+1052T>A | |
12 | g.53973847G>A | CA479965437 | HOTAIR,HOXC11 | c.606G>A (p.Glu202=) n.59+1051C>T | dbSNP gnomAD v4 |
12 | g.53973847G>C | CA385105733 | HOTAIR,HOXC11 | c.606G>C (p.Glu202Asp) n.59+1051C>G | |
12 | g.53973847G= | CA2037241298 | HOTAIR,HOXC11 | c.606G= (p.Glu202=) n.59+1051C= | |
12 | g.53973847G>T | CA385105734 | HOTAIR,HOXC11 | c.606G>T (p.Glu202Asp) n.59+1051C>A | gnomAD v4 COSMIC |
12 | g.53973848G>A | CA385105742 | HOTAIR,HOXC11 | c.607G>A (p.Glu203Lys) n.59+1050C>T | gnomAD v4 |
12 | g.53973848G>C | CA385105739 | HOTAIR,HOXC11 | c.607G>C (p.Glu203Gln) n.59+1050C>G | |
12 | g.53973848G>T | CA385105736 | HOTAIR,HOXC11 | c.607G>T (p.Glu203Ter) n.59+1050C>A | |
12 | g.53973849A>C | CA385105746 | HOTAIR,HOXC11 | c.608A>C (p.Glu203Ala) n.59+1049T>G | |
12 | g.53973849A>G | CA385105747 | HOTAIR,HOXC11 | c.608A>G (p.Glu203Gly) n.59+1049T>C | |
12 | g.53973849A>T | CA385105750 | HOTAIR,HOXC11 | c.608A>T (p.Glu203Val) n.59+1049T>A | |
12 | g.53973850G>A | CA479965438 | HOTAIR,HOXC11 | c.609G>A (p.Glu203=) n.59+1048C>T | gnomAD v4 |
12 | g.53973850G>C | CA385105753 | HOTAIR,HOXC11 | c.609G>C (p.Glu203Asp) n.59+1048C>G | |
12 | g.53973850G>T | CA385105755 | HOTAIR,HOXC11 | c.609G>T (p.Glu203Asp) n.59+1048C>A | |
12 | g.53973851G>A | CA6604281 | HOTAIR,HOXC11 | c.610G>A (p.Glu204Lys) n.59+1047C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.53973851G>C | CA385105758 | HOTAIR,HOXC11 | c.610G>C (p.Glu204Gln) n.59+1047C>G | |
12 | g.53973851G= | CA2037241302 | HOTAIR,HOXC11 | c.610G= (p.Glu204=) n.59+1047C= | |
12 | g.53973851G>T | CA385105761 | HOTAIR,HOXC11 | c.610G>T (p.Glu204Ter) n.59+1047C>A | gnomAD v4 |
12 | g.53973852A>C | CA385105762 | HOTAIR,HOXC11 | c.611A>C (p.Glu204Ala) n.59+1046T>G | |
12 | g.53973852A>G | CA385105766 | HOTAIR,HOXC11 | c.611A>G (p.Glu204Gly) n.59+1046T>C | |
12 | g.53973852A>T | CA385105765 | HOTAIR,HOXC11 | c.611A>T (p.Glu204Val) n.59+1046T>A | |
12 | g.53973853G>A | CA479965439 | HOTAIR,HOXC11 | c.612G>A (p.Glu204=) n.59+1045C>T | |
12 | g.53973853G>C | CA385105768 | HOTAIR,HOXC11 | c.612G>C (p.Glu204Asp) n.59+1045C>G | |
12 | g.53973853G>T | CA385105769 | HOTAIR,HOXC11 | c.612G>T (p.Glu204Asp) n.59+1045C>A | gnomAD v4 |
12 | g.53973854A>C | CA385105770 | HOTAIR,HOXC11 | c.613A>C (p.Asn205His) n.59+1044T>G | |
12 | g.53973854A>G | CA385105771 | HOTAIR,HOXC11 | c.613A>G (p.Asn205Asp) n.59+1044T>C | |
12 | g.53973854A>T | CA385105772 | HOTAIR,HOXC11 | c.613A>T (p.Asn205Tyr) n.59+1044T>A | |
12 | g.53973855A>C | CA385105774 | HOTAIR,HOXC11 | c.614A>C (p.Asn205Thr) n.59+1043T>G | |
12 | g.53973855A>G | CA385105775 | HOTAIR,HOXC11 | c.614A>G (p.Asn205Ser) n.59+1043T>C | |
12 | g.53973855A>T | CA385105776 | HOTAIR,HOXC11 | c.614A>T (p.Asn205Ile) n.59+1043T>A | |
12 | g.53973856C>A | CA385105778 | HOTAIR,HOXC11 | c.615C>A (p.Asn205Lys) n.59+1042G>T | gnomAD v4 |
12 | g.53973856C= | CA2037241305 | HOTAIR,HOXC11 | c.615C= (p.Asn205=) n.59+1042G= | |
12 | g.53973856C>G | CA385105779 | HOTAIR,HOXC11 | c.615C>G (p.Asn205Lys) n.59+1042G>C | |
12 | g.53973856C>T | CA479965440 | HOTAIR,HOXC11 | c.615C>T (p.Asn205=) n.59+1042G>A | dbSNP gnomAD v4 |
12 | g.53973857A>C | CA385105780 | HOTAIR,HOXC11 | c.616A>C (p.Thr206Pro) n.59+1041T>G | |
12 | g.53973857A>G | CA385105781 | HOTAIR,HOXC11 | c.616A>G (p.Thr206Ala) n.59+1041T>C | |
12 | g.53973857A>T | CA385105782 | HOTAIR,HOXC11 | c.616A>T (p.Thr206Ser) n.59+1041T>A | |
12 | g.53973858C>A | CA385105783 | HOTAIR,HOXC11 | c.617C>A (p.Thr206Lys) n.59+1040G>T | |
12 | g.53973858C= | CA2037241309 | HOTAIR,HOXC11 | c.617C= (p.Thr206=) n.59+1040G= | |
12 | g.53973858C>G | CA385105785 | HOTAIR,HOXC11 | c.617C>G (p.Thr206Arg) n.59+1040G>C | dbSNP |
12 | g.53973858C>T | CA385105784 | HOTAIR,HOXC11 | c.617C>T (p.Thr206Ile) n.59+1040G>A | |
12 | g.53973859A>C | CA479965443 | HOTAIR,HOXC11 | c.618A>C (p.Thr206=) n.59+1039T>G | |
12 | g.53973859A>G | CA479965441 | HOTAIR,HOXC11 | c.618A>G (p.Thr206=) n.59+1039T>C | gnomAD v4 |
12 | g.53973859A>T | CA479965442 | HOTAIR,HOXC11 | c.618A>T (p.Thr206=) n.59+1039T>A | |
12 | g.53973860A>C | CA385105789 | HOTAIR,HOXC11 | c.619A>C (p.Asn207His) n.59+1038T>G | |
12 | g.53973860A>G | CA385105790 | HOTAIR,HOXC11 | c.619A>G (p.Asn207Asp) n.59+1038T>C | |
12 | g.53973860A>T | CA385105791 | HOTAIR,HOXC11 | c.619A>T (p.Asn207Tyr) n.59+1038T>A | COSMIC |
12 | g.53973861A>C | CA385105793 | HOTAIR,HOXC11 | c.620A>C (p.Asn207Thr) n.59+1037T>G | |
12 | g.53973861A>G | CA385105796 | HOTAIR,HOXC11 | c.620A>G (p.Asn207Ser) n.59+1037T>C | |
12 | g.53973861A>T | CA385105798 | HOTAIR,HOXC11 | c.620A>T (p.Asn207Ile) n.59+1037T>A | |
12 | g.53973862T>A | CA385105800 | HOTAIR,HOXC11 | c.621T>A (p.Asn207Lys) n.59+1036A>T | |
12 | g.53973862T>C | CA479965444 | HOTAIR,HOXC11 | c.621T>C (p.Asn207=) n.59+1036A>G | |
12 | g.53973862T>G | CA385105802 | HOTAIR,HOXC11 | c.621T>G (p.Asn207Lys) n.59+1036A>C | |
12 | g.53973863C>A | CA385105805 | HOTAIR,HOXC11 | c.622C>A (p.Pro208Thr) n.59+1035G>T | gnomAD v4 |
12 | g.53973863C= | CA2037241312 | HOTAIR,HOXC11 | c.622C= (p.Pro208=) n.59+1035G= | |
12 | g.53973863C>G | CA385105807 | HOTAIR,HOXC11 | c.622C>G (p.Pro208Ala) n.59+1035G>C | |
12 | g.53973863C>T | CA237398078 | HOTAIR,HOXC11 | c.622C>T (p.Pro208Ser) n.59+1035G>A | dbSNP |
12 | g.53973864C>A | CA385105815 | HOTAIR,HOXC11 | c.623C>A (p.Pro208His) n.59+1034G>T | |
12 | g.53973864C>G | CA385105817 | HOTAIR,HOXC11 | c.623C>G (p.Pro208Arg) n.59+1034G>C | |
12 | g.53973864C>T | CA385105813 | HOTAIR,HOXC11 | c.623C>T (p.Pro208Leu) n.59+1034G>A | |
12 | g.53973865C>A | CA479965445 | HOTAIR,HOXC11 | c.624C>A (p.Pro208=) n.59+1033G>T | gnomAD v4 |
12 | g.53973865C>G | CA479965446 | HOTAIR,HOXC11 | c.624C>G (p.Pro208=) n.59+1033G>C | |
12 | g.53973865C>T | CA479965447 | HOTAIR,HOXC11 | c.624C>T (p.Pro208=) n.59+1033G>A | |
12 | g.53973866A>C | CA385105821 | HOTAIR,HOXC11 | c.625A>C (p.Ser209Arg) n.59+1032T>G | |
12 | g.53973866A>G | CA385105823 | HOTAIR,HOXC11 | c.625A>G (p.Ser209Gly) n.59+1032T>C | |
12 | g.53973866A>T | CA385105825 | HOTAIR,HOXC11 | c.625A>T (p.Ser209Cys) n.59+1032T>A | gnomAD v4 |
12 | g.53973867G>A | CA385105827 | HOTAIR,HOXC11 | c.626G>A (p.Ser209Asn) n.59+1031C>T | |
12 | g.53973867G>C | CA385105830 | HOTAIR,HOXC11 | c.626G>C (p.Ser209Thr) n.59+1031C>G | |
12 | g.53973867G= | CA2037241315 | HOTAIR,HOXC11 | c.626G= (p.Ser209=) n.59+1031C= | |
12 | g.53973867G>T | CA385105832 | HOTAIR,HOXC11 | c.626G>T (p.Ser209Ile) n.59+1031C>A | dbSNP gnomAD v4 |
12 | g.53973868C>A | CA385105839 | HOTAIR,HOXC11 | c.627C>A (p.Ser209Arg) n.59+1030G>T | gnomAD v4 |
12 | g.53973868C>G | CA385105836 | HOTAIR,HOXC11 | c.627C>G (p.Ser209Arg) n.59+1030G>C | gnomAD v4 |
12 | g.53973868C>T | CA479965448 | HOTAIR,HOXC11 | c.627C>T (p.Ser209=) n.59+1030G>A | gnomAD v4 |
12 | g.53973869T>A | CA385105842 | HOTAIR,HOXC11 | c.628T>A (p.Ser210Thr) n.59+1029A>T | |
12 | g.53973869T>C | CA385105843 | HOTAIR,HOXC11 | c.628T>C (p.Ser210Pro) n.59+1029A>G | |
12 | g.53973869T>G | CA385105846 | HOTAIR,HOXC11 | c.628T>G (p.Ser210Ala) n.59+1029A>C | |
12 | g.53973870C>A | CA385105848 | HOTAIR,HOXC11 | c.629C>A (p.Ser210Ter) n.59+1028G>T | dbSNP |
12 | g.53973870C= | CA2037241317 | HOTAIR,HOXC11 | c.629C= (p.Ser210=) n.59+1028G= | |
12 | g.53973870C>G | CA385105850 | HOTAIR,HOXC11 | c.629C>G (p.Ser210Trp) n.59+1028G>C | |
12 | g.53973870C>T | CA237398079 | HOTAIR,HOXC11 | c.629C>T (p.Ser210Leu) n.59+1028G>A | dbSNP gnomAD v3 gnomAD v4 COSMIC |
12 | g.53973871G>A | CA479965449 | HOTAIR,HOXC11 | c.630G>A (p.Ser210=) n.59+1027C>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.53973871G>C | CA479965450 | HOTAIR,HOXC11 | c.630G>C (p.Ser210=) n.59+1027C>G | dbSNP gnomAD v4 |
12 | g.53973871G= | CA2037241321 | HOTAIR,HOXC11 | c.630G= (p.Ser210=) n.59+1027C= | |
12 | g.53973871G>T | CA479965451 | HOTAIR,HOXC11 | c.630G>T (p.Ser210=) n.59+1027C>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.53973872T>A | CA385105860 | HOTAIR,HOXC11 | c.631T>A (p.Ser211Thr) n.59+1026A>T | |
12 | g.53973872T>C | CA385105855 | HOTAIR,HOXC11 | c.631T>C (p.Ser211Pro) n.59+1026A>G | gnomAD v4 |
12 | g.53973872T>G | CA385105858 | HOTAIR,HOXC11 | c.631T>G (p.Ser211Ala) n.59+1026A>C | |
12 | g.53973873C>A | CA385105861 | HOTAIR,HOXC11 | c.632C>A (p.Ser211Tyr) n.59+1025G>T | |
12 | g.53973873C>G | CA385105864 | HOTAIR,HOXC11 | c.632C>G (p.Ser211Cys) n.59+1025G>C | |
12 | g.53973873C>T | CA385105867 | HOTAIR,HOXC11 | c.632C>T (p.Ser211Phe) n.59+1025G>A | |
12 | g.53973874C>A | CA479965452 | HOTAIR,HOXC11 | c.633C>A (p.Ser211=) n.59+1024G>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.53973874C= | CA2037241323 | HOTAIR,HOXC11 | c.633C= (p.Ser211=) n.59+1024G= | |
12 | g.53973874C>G | CA479965453 | HOTAIR,HOXC11 | c.633C>G (p.Ser211=) n.59+1024G>C | gnomAD v4 |
12 | g.53973874C>T | CA6604282 | HOTAIR,HOXC11 | c.633C>T (p.Ser211=) n.59+1024G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.53973875G>A | CA237398102 | HOTAIR,HOXC11 | c.634G>A (p.Gly212Ser) n.59+1023C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.53973875G>C | CA385105875 | HOTAIR,HOXC11 | c.634G>C (p.Gly212Arg) n.59+1023C>G | |
12 | g.53973875G= | CA2037241325 | HOTAIR,HOXC11 | c.634G= (p.Gly212=) n.59+1023C= | |
12 | g.53973875G>T | CA385105878 | HOTAIR,HOXC11 | c.634G>T (p.Gly212Cys) n.59+1023C>A | dbSNP |
12 | g.53973876G>A | CA385105881 | HOTAIR,HOXC11 | c.635G>A (p.Gly212Asp) n.59+1022C>T | |
12 | g.53973876G>C | CA385105882 | HOTAIR,HOXC11 | c.635G>C (p.Gly212Ala) n.59+1022C>G | |
12 | g.53973876G= | CA2037241328 | HOTAIR,HOXC11 | c.635G= (p.Gly212=) n.59+1022C= | |
12 | g.53973876G>T | CA385105885 | HOTAIR,HOXC11 | c.635G>T (p.Gly212Val) n.59+1022C>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.53973877T>A | CA479965454 | HOTAIR,HOXC11 | c.636T>A (p.Gly212=) n.59+1021A>T | |
12 | g.53973877T>C | CA479965455 | HOTAIR,HOXC11 | c.636T>C (p.Gly212=) n.59+1021A>G | |
12 | g.53973877T>G | CA479965456 | HOTAIR,HOXC11 | c.636T>G (p.Gly212=) n.59+1021A>C | |
12 | g.53973878T>A | CA385105888 | HOTAIR,HOXC11 | c.637T>A (p.Ser213Thr) n.59+1020A>T | |
12 | g.53973878T>C | CA385105890 | HOTAIR,HOXC11 | c.637T>C (p.Ser213Pro) n.59+1020A>G | |
12 | g.53973878T>G | CA385105891 | HOTAIR,HOXC11 | c.637T>G (p.Ser213Ala) n.59+1020A>C | |
12 | g.53973879C>A | CA385105901 | HOTAIR,HOXC11 | c.638C>A (p.Ser213Ter) n.59+1019G>T | |
12 | g.53973879C>G | CA385105895 | HOTAIR,HOXC11 | c.638C>G (p.Ser213Ter) n.59+1019G>C | |
12 | g.53973879C>T | CA385105898 | HOTAIR,HOXC11 | c.638C>T (p.Ser213Leu) n.59+1019G>A | |
12 | g.53973880A>C | CA479965457 | HOTAIR,HOXC11 | c.639A>C (p.Ser213=) n.59+1018T>G | |
12 | g.53973880A>G | CA479965458 | HOTAIR,HOXC11 | c.639A>G (p.Ser213=) n.59+1018T>C | gnomAD v4 |
12 | g.53973880A>T | CA479965459 | HOTAIR,HOXC11 | c.639A>T (p.Ser213=) n.59+1018T>A | |
12 | g.53973881G>A | CA385105903 | HOTAIR,HOXC11 | c.640G>A (p.Ala214Thr) n.59+1017C>T | dbSNP gnomAD v4 |
12 | g.53973881G>C | CA385105904 | HOTAIR,HOXC11 | c.640G>C (p.Ala214Pro) n.59+1017C>G | |
12 | g.53973881G= | CA2037241331 | HOTAIR,HOXC11 | c.640G= (p.Ala214=) n.59+1017C= | |
12 | g.53973881G>T | CA385105907 | HOTAIR,HOXC11 | c.640G>T (p.Ala214Ser) n.59+1017C>A | gnomAD v4 |
12 | g.53973882C>A | CA385105911 | HOTAIR,HOXC11 | c.641C>A (p.Ala214Asp) n.59+1016G>T | |
12 | g.53973882C>G | CA385105913 | HOTAIR,HOXC11 | c.641C>G (p.Ala214Gly) n.59+1016G>C | |
12 | g.53973882C>T | CA385105915 | HOTAIR,HOXC11 | c.641C>T (p.Ala214Val) n.59+1016G>A | gnomAD v4 |
12 | g.53973883C>A | CA479965460 | HOTAIR,HOXC11 | c.642C>A (p.Ala214=) n.59+1015G>T | gnomAD v4 |
12 | g.53973883C= | CA2037241333 | HOTAIR,HOXC11 | c.642C= (p.Ala214=) n.59+1015G= | |
12 | g.53973883C>G | CA479965461 | HOTAIR,HOXC11 | c.642C>G (p.Ala214=) n.59+1015G>C | |
12 | g.53973883C>T | CA479965462 | HOTAIR,HOXC11 | c.642C>T (p.Ala214=) n.59+1015G>A | dbSNP gnomAD v3 gnomAD v4 |
12 | g.53973884C>A | CA385105921 | HOTAIR,HOXC11 | c.643C>A (p.His215Asn) n.59+1014G>T | gnomAD v4 |
12 | g.53973884C>G | CA385105918 | HOTAIR,HOXC11 | c.643C>G (p.His215Asp) n.59+1014G>C | gnomAD v4 |
12 | g.53973884C>T | CA385105919 | HOTAIR,HOXC11 | c.643C>T (p.His215Tyr) n.59+1014G>A | gnomAD v4 |
12 | g.53973885A>C | CA385105925 | HOTAIR,HOXC11 | c.644A>C (p.His215Pro) n.59+1013T>G | gnomAD v4 |
12 | g.53973885A>G | CA385105927 | HOTAIR,HOXC11 | c.644A>G (p.His215Arg) n.59+1013T>C | |
12 | g.53973885A>T | CA385105929 | HOTAIR,HOXC11 | c.644A>T (p.His215Leu) n.59+1013T>A | |
12 | g.53973886C>A | CA385105931 | HOTAIR,HOXC11 | c.645C>A (p.His215Gln) n.59+1012G>T | |
12 | g.53973886C>G | CA385105933 | HOTAIR,HOXC11 | c.645C>G (p.His215Gln) n.59+1012G>C | |
12 | g.53973886C>T | CA479965463 | HOTAIR,HOXC11 | c.645C>T (p.His215=) n.59+1012G>A | gnomAD v4 |
12 | g.53973887T>A | CA385105939 | HOTAIR,HOXC11 | c.646T>A (p.Ser216Thr) n.59+1011A>T | dbSNP gnomAD v4 |
12 | g.53973887T>C | CA385105935 | HOTAIR,HOXC11 | c.646T>C (p.Ser216Pro) n.59+1011A>G | |
12 | g.53973887T>G | CA385105937 | HOTAIR,HOXC11 | c.646T>G (p.Ser216Ala) n.59+1011A>C | |
12 | g.53973888C>A | CA385105940 | HOTAIR,HOXC11 | c.647C>A (p.Ser216Tyr) n.59+1010G>T | gnomAD v4 |
12 | g.53973888C= | CA2037241336 | HOTAIR,HOXC11 | c.647C= (p.Ser216=) n.59+1010G= | |
12 | g.53973888C>G | CA385105941 | HOTAIR,HOXC11 | c.647C>G (p.Ser216Cys) n.59+1010G>C | |
12 | g.53973888C>T | CA237398125 | HOTAIR,HOXC11 | c.647C>T (p.Ser216Phe) n.59+1010G>A | dbSNP gnomAD v3 gnomAD v4 |
12 | g.53973889C>A | CA237398128 | HOTAIR,HOXC11 | c.648C>A (p.Ser216=) n.59+1009G>T | dbSNP |
12 | g.53973889C= | CA2037241341 | HOTAIR,HOXC11 | c.648C= (p.Ser216=) n.59+1009G= | |
12 | g.53973889C>G | CA479965465 | HOTAIR,HOXC11 | c.648C>G (p.Ser216=) n.59+1009G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.53973889C>T | CA479965464 | HOTAIR,HOXC11 | c.648C>T (p.Ser216=) n.59+1009G>A | dbSNP gnomAD v3 gnomAD v4 |
12 | g.53973890G>A | CA385105942 | HOTAIR,HOXC11 | c.649G>A (p.Val217Met) n.59+1008C>T | dbSNP gnomAD v4 |
12 | g.53973890G>C | CA385105944 | HOTAIR,HOXC11 | c.649G>C (p.Val217Leu) n.59+1008C>G | |
12 | g.53973890G= | CA2037241347 | HOTAIR,HOXC11 | c.649G= (p.Val217=) n.59+1008C= | |
12 | g.53973890G>T | CA385105945 | HOTAIR,HOXC11 | c.649G>T (p.Val217Leu) n.59+1008C>A | gnomAD v4 |
12 | g.53973891T>A | CA385105949 | HOTAIR,HOXC11 | c.650T>A (p.Val217Glu) n.59+1007A>T | |
12 | g.53973891T>C | CA385105952 | HOTAIR,HOXC11 | c.650T>C (p.Val217Ala) n.59+1007A>G | gnomAD v3 gnomAD v4 |
12 | g.53973891T>G | CA385105957 | HOTAIR,HOXC11 | c.650T>G (p.Val217Gly) n.59+1007A>C | |
12 | g.53973892G>A | CA479965466 | HOTAIR,HOXC11 | c.651G>A (p.Val217=) n.59+1006C>T | gnomAD v4 |
12 | g.53973892G>C | CA479965467 | HOTAIR,HOXC11 | c.651G>C (p.Val217=) n.59+1006C>G | |
12 | g.53973892G>T | CA479965468 | HOTAIR,HOXC11 | c.651G>T (p.Val217=) n.59+1006C>A | gnomAD v4 |
12 | g.53973893del | CA2619096797 | HOTAIR,HOXC11 | c.652del (p.Ala218ProfsTer?) n.59+1006del | gnomAD v4 |
12 | g.53973898_53973909del | CA2619096800 | HOTAIR,HOXC11 | c.657_668del (p.Glu220_Lys223del) n.59+995_59+1006del | gnomAD v4 |
12 | g.53973893G>A | CA385105961 | HOTAIR,HOXC11 | c.652G>A (p.Ala218Thr) n.59+1005C>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.53973893G>C | CA385105963 | HOTAIR,HOXC11 | c.652G>C (p.Ala218Pro) n.59+1005C>G | |
12 | g.53973893G= | CA2037241349 | HOTAIR,HOXC11 | c.652G= (p.Ala218=) n.59+1005C= | |
12 | g.53973893G>T | CA385105965 | HOTAIR,HOXC11 | c.652G>T (p.Ala218Ser) n.59+1005C>A | |
12 | g.53973894C>A | CA385105968 | HOTAIR,HOXC11 | c.653C>A (p.Ala218Asp) n.59+1004G>T | gnomAD v4 |
12 | g.53973894C>G | CA385105973 | HOTAIR,HOXC11 | c.653C>G (p.Ala218Gly) n.59+1004G>C | |
12 | g.53973894C>T | CA385105970 | HOTAIR,HOXC11 | c.653C>T (p.Ala218Val) n.59+1004G>A | |
12 | g.53973895C>A | CA479965469 | HOTAIR,HOXC11 | c.654C>A (p.Ala218=) n.59+1003G>T | gnomAD v4 |
12 | g.53973895C>G | CA479965470 | HOTAIR,HOXC11 | c.654C>G (p.Ala218=) n.59+1003G>C | |
12 | g.53973895C>T | CA479965471 | HOTAIR,HOXC11 | c.654C>T (p.Ala218=) n.59+1003G>A | |
12 | g.53973895_53973908delinsCAAGGAGCCGGCCA | CA2037241351 | HOTAIR,HOXC11 | c.654_667delinsCAAGGAGCCGGCCA (p.Ala218=) n.59+990_59+1003delinsTGGCCGGCTCCTTG | |
12 | g.53973896A>C | CA385105975 | HOTAIR,HOXC11 | c.655A>C (p.Lys219Gln) n.59+1002T>G | |
12 | g.53973896A>G | CA385105979 | HOTAIR,HOXC11 | c.655A>G (p.Lys219Glu) n.59+1002T>C | |
12 | g.53973896A>T | CA385105977 | HOTAIR,HOXC11 | c.655A>T (p.Lys219Ter) n.59+1002T>A | gnomAD v4 |
12 | g.53973905_53973917del | CA689961818 | HOTAIR,HOXC11 | c.664_676del (p.Ala222ProfsTer?) n.59+990_59+1002del | dbSNP gnomAD v4 |
12 | g.53973897A>C | CA385105982 | HOTAIR,HOXC11 | c.656A>C (p.Lys219Thr) n.59+1001T>G | |
12 | g.53973897A>G | CA385105984 | HOTAIR,HOXC11 | c.656A>G (p.Lys219Arg) n.59+1001T>C | gnomAD v4 |
12 | g.53973897A>T | CA385105987 | HOTAIR,HOXC11 | c.656A>T (p.Lys219Met) n.59+1001T>A | |
12 | g.53973898G>A | CA479965472 | HOTAIR,HOXC11 | c.657G>A (p.Lys219=) n.59+1000C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.53973898G>C | CA385105989 | HOTAIR,HOXC11 | c.657G>C (p.Lys219Asn) n.59+1000C>G | |
12 | g.53973898G= | CA2037241356 | HOTAIR,HOXC11 | c.657G= (p.Lys219=) n.59+1000C= | |
12 | g.53973898G>T | CA385105991 | HOTAIR,HOXC11 | c.657G>T (p.Lys219Asn) n.59+1000C>A | gnomAD v4 |
12 | g.53973899G>A | CA385105993 | HOTAIR,HOXC11 | c.658G>A (p.Glu220Lys) n.59+999C>T | |
12 | g.53973899G>C | CA385105994 | HOTAIR,HOXC11 | c.658G>C (p.Glu220Gln) n.59+999C>G | dbSNP gnomAD v2 gnomAD v4 |
12 | g.53973899G= | CA2037241358 | HOTAIR,HOXC11 | c.658G= (p.Glu220=) n.59+999C= | |
12 | g.53973899G>T | CA385105995 | HOTAIR,HOXC11 | c.658G>T (p.Glu220Ter) n.59+999C>A | |
12 | g.53973900A>C | CA385105998 | HOTAIR,HOXC11 | c.659A>C (p.Glu220Ala) n.59+998T>G | |
12 | g.53973900A>G | CA385105999 | HOTAIR,HOXC11 | c.659A>G (p.Glu220Gly) n.59+998T>C | |
12 | g.53973900A>T | CA385106001 | HOTAIR,HOXC11 | c.659A>T (p.Glu220Val) n.59+998T>A | |
12 | g.53973901G>A | CA479965473 | HOTAIR,HOXC11 | c.660G>A (p.Glu220=) n.59+997C>T | |
12 | g.53973901G>C | CA385106005 | HOTAIR,HOXC11 | c.660G>C (p.Glu220Asp) n.59+997C>G | |
12 | g.53973901G>T | CA385106003 | HOTAIR,HOXC11 | c.660G>T (p.Glu220Asp) n.59+997C>A | gnomAD v4 |
12 | g.53973902C>A | CA385106006 | HOTAIR,HOXC11 | c.661C>A (p.Pro221Thr) n.59+996G>T | |
12 | g.53973902C= | CA2037241361 | HOTAIR,HOXC11 | c.661C= (p.Pro221=) n.59+996G= | |
12 | g.53973902C>G | CA385106008 | HOTAIR,HOXC11 | c.661C>G (p.Pro221Ala) n.59+996G>C | |
12 | g.53973902C>T | CA237398129 | HOTAIR,HOXC11 | c.661C>T (p.Pro221Ser) n.59+996G>A | dbSNP gnomAD v4 |
12 | g.53973903C>A | CA385106011 | HOTAIR,HOXC11 | c.662C>A (p.Pro221Gln) n.59+995G>T | gnomAD v4 |
12 | g.53973903C= | CA2037241363 | HOTAIR,HOXC11 | c.662C= (p.Pro221=) n.59+995G= | |
12 | g.53973903C>G | CA385106013 | HOTAIR,HOXC11 | c.662C>G (p.Pro221Arg) n.59+995G>C | gnomAD v4 |
12 | g.53973903C>T | CA385106015 | HOTAIR,HOXC11 | c.662C>T (p.Pro221Leu) n.59+995G>A | dbSNP gnomAD v3 gnomAD v4 |
12 | g.53973904G>A | CA479965474 | HOTAIR,HOXC11 | c.663G>A (p.Pro221=) n.59+994C>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.53973904G>C | CA479965475 | HOTAIR,HOXC11 | c.663G>C (p.Pro221=) n.59+994C>G | dbSNP gnomAD v2 gnomAD v4 |
12 | g.53973904G= | CA2037241365 | HOTAIR,HOXC11 | c.663G= (p.Pro221=) n.59+994C= | |
12 | g.53973904G>T | CA479965476 | HOTAIR,HOXC11 | c.663G>T (p.Pro221=) n.59+994C>A | gnomAD v4 |
12 | g.53973905G>A | CA385106017 | HOTAIR,HOXC11 | c.664G>A (p.Ala222Thr) n.59+993C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.53973905G>C | CA385106018 | HOTAIR,HOXC11 | c.664G>C (p.Ala222Pro) n.59+993C>G | |
12 | g.53973905G= | CA2037241369 | HOTAIR,HOXC11 | c.664G= (p.Ala222=) n.59+993C= | |
12 | g.53973905G>T | CA385106020 | HOTAIR,HOXC11 | c.664G>T (p.Ala222Ser) n.59+993C>A | gnomAD v4 |
12 | g.53973906C>A | CA385106022 | HOTAIR,HOXC11 | c.665C>A (p.Ala222Asp) n.59+992G>T | gnomAD v4 |
12 | g.53973906C= | CA2037241372 | HOTAIR,HOXC11 | c.665C= (p.Ala222=) n.59+992G= | |
12 | g.53973906C>G | CA385106024 | HOTAIR,HOXC11 | c.665C>G (p.Ala222Gly) n.59+992G>C | gnomAD v4 |
12 | g.53973906C>T | CA6604283 | HOTAIR,HOXC11 | c.665C>T (p.Ala222Val) n.59+992G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.53973908_53973920dup | CA689961862 | HOTAIR,HOXC11 | c.667_679dup (p.Pro227GlnfsTer7) c.667_679dup (p.Pro227GlnfsTer?) n.59+980_59+992dup | dbSNP |
12 | g.53973907C>A | CA479965477 | HOTAIR,HOXC11 | c.666C>A (p.Ala222=) n.59+991G>T | gnomAD v4 |
12 | g.53973907C>G | CA479965478 | HOTAIR,HOXC11 | c.666C>G (p.Ala222=) n.59+991G>C | |
12 | g.53973907C>T | CA479965479 | HOTAIR,HOXC11 | c.666C>T (p.Ala222=) n.59+991G>A | |
12 | g.53973908A= | CA2037241375 | HOTAIR,HOXC11 | c.667A= (p.Lys223=) n.59+990T= | |
12 | g.53973908A>C | CA385106030 | HOTAIR,HOXC11 | c.667A>C (p.Lys223Gln) n.59+990T>G | dbSNP gnomAD v3 gnomAD v4 |
12 | g.53973908A>G | CA385106032 | HOTAIR,HOXC11 | c.667A>G (p.Lys223Glu) n.59+990T>C | gnomAD v4 |
12 | g.53973908A>T | CA385106028 | HOTAIR,HOXC11 | c.667A>T (p.Lys223Ter) n.59+990T>A | dbSNP gnomAD v3 gnomAD v4 |
12 | g.53973910del | CA2619096870 | HOTAIR,HOXC11 | c.669del (p.Gly224GlufsTer?) n.59+990del | gnomAD v4 |
12 | g.53973909A>C | CA385106034 | HOTAIR,HOXC11 | c.668A>C (p.Lys223Thr) n.59+989T>G | |
12 | g.53973909A>G | CA385106036 | HOTAIR,HOXC11 | c.668A>G (p.Lys223Arg) n.59+989T>C | gnomAD v4 |
12 | g.53973909A>T | CA385106037 | HOTAIR,HOXC11 | c.668A>T (p.Lys223Ile) n.59+989T>A | gnomAD v4 |
12 | g.53973910A= | CA2037241377 | HOTAIR,HOXC11 | c.669A= (p.Lys223=) n.59+988T= | |
12 | g.53973910A>C | CA385106039 | HOTAIR,HOXC11 | c.669A>C (p.Lys223Asn) n.59+988T>G | gnomAD v4 |
12 | g.53973910A>G | CA237398130 | HOTAIR,HOXC11 | c.669A>G (p.Lys223=) n.59+988T>C | dbSNP gnomAD v3 gnomAD v4 |
12 | g.53973910A>T | CA385106041 | HOTAIR,HOXC11 | c.669A>T (p.Lys223Asn) n.59+988T>A | |
12 | g.53973911G>A | CA385106048 | HOTAIR,HOXC11 | c.670G>A (p.Gly224Arg) n.59+987C>T | |
12 | g.53973911G>C | CA385106046 | HOTAIR,HOXC11 | c.670G>C (p.Gly224Arg) n.59+987C>G | COSMIC |
12 | g.53973911G= | CA2037241380 | HOTAIR,HOXC11 | c.670G= (p.Gly224=) n.59+987C= | |
12 | g.53973911G>T | CA385106044 | HOTAIR,HOXC11 | c.670G>T (p.Gly224Ter) n.59+987C>A | dbSNP gnomAD v4 |
12 | g.53973912G>A | CA385106051 | HOTAIR,HOXC11 | c.671G>A (p.Gly224Glu) n.59+986C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.53973912G>C | CA385106053 | HOTAIR,HOXC11 | c.671G>C (p.Gly224Ala) n.59+986C>G | |
12 | g.53973912G= | CA2037241382 | HOTAIR,HOXC11 | c.671G= (p.Gly224=) n.59+986C= | |
12 | g.53973912G>T | CA385106055 | HOTAIR,HOXC11 | c.671G>T (p.Gly224Val) n.59+986C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |