Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.53973712C>A | CA6604244 | HOTAIR,HOXC11 | c.471C>A (p.Asn157Lys) n.59+1186G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.53973712C= | CA2037241103 | HOTAIR,HOXC11 | c.471C= (p.Asn157=) n.59+1186G= | |
12 | g.53973712C>G | CA6604245 | HOTAIR,HOXC11 | c.471C>G (p.Asn157Lys) n.59+1186G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.53973712C>T | CA480090801 | HOTAIR,HOXC11 | c.471C>T (p.Asn157=) n.59+1186G>A | gnomAD v4 |
12 | g.53973713G>A | CA385104988 | HOTAIR,HOXC11 | c.472G>A (p.Ala158Thr) n.59+1185C>T | dbSNP gnomAD v2 |
12 | g.53973713G>C | CA385104991 | HOTAIR,HOXC11 | c.472G>C (p.Ala158Pro) n.59+1185C>G | |
12 | g.53973713G= | CA2037241105 | HOTAIR,HOXC11 | c.472G= (p.Ala158=) n.59+1185C= | |
12 | g.53973713G>T | CA385104994 | HOTAIR,HOXC11 | c.472G>T (p.Ala158Ser) n.59+1185C>A | |
12 | g.53973714C>A | CA385104997 | HOTAIR,HOXC11 | c.473C>A (p.Ala158Asp) n.59+1184G>T | dbSNP |
12 | g.53973714C= | CA2037241107 | HOTAIR,HOXC11 | c.473C= (p.Ala158=) n.59+1184G= | |
12 | g.53973714C>G | CA385104999 | HOTAIR,HOXC11 | c.473C>G (p.Ala158Gly) n.59+1184G>C | |
12 | g.53973714C>T | CA385105002 | HOTAIR,HOXC11 | c.473C>T (p.Ala158Val) n.59+1184G>A | |
12 | g.53973715C>A | CA480090802 | HOTAIR,HOXC11 | c.474C>A (p.Ala158=) n.59+1183G>T | |
12 | g.53973715C>G | CA480090804 | HOTAIR,HOXC11 | c.474C>G (p.Ala158=) n.59+1183G>C | |
12 | g.53973715C>T | CA480090803 | HOTAIR,HOXC11 | c.474C>T (p.Ala158=) n.59+1183G>A | gnomAD v4 COSMIC |
12 | g.53973716T>A | CA385105004 | HOTAIR,HOXC11 | c.475T>A (p.Tyr159Asn) n.59+1182A>T | |
12 | g.53973716T>C | CA385105010 | HOTAIR,HOXC11 | c.475T>C (p.Tyr159His) n.59+1182A>G | |
12 | g.53973716T>G | CA385105007 | HOTAIR,HOXC11 | c.475T>G (p.Tyr159Asp) n.59+1182A>C | |
12 | g.53973717A>C | CA385105015 | HOTAIR,HOXC11 | c.476A>C (p.Tyr159Ser) n.59+1181T>G | |
12 | g.53973717A>G | CA385105017 | HOTAIR,HOXC11 | c.476A>G (p.Tyr159Cys) n.59+1181T>C | gnomAD v4 |
12 | g.53973717A>T | CA385105020 | HOTAIR,HOXC11 | c.476A>T (p.Tyr159Phe) n.59+1181T>A | gnomAD v4 |
12 | g.53973718C>A | CA385105023 | HOTAIR,HOXC11 | c.477C>A (p.Tyr159Ter) n.59+1180G>T | |
12 | g.53973718C= | CA2037241108 | HOTAIR,HOXC11 | c.477C= (p.Tyr159=) n.59+1180G= | |
12 | g.53973718C>G | CA385105025 | HOTAIR,HOXC11 | c.477C>G (p.Tyr159Ter) n.59+1180G>C | |
12 | g.53973718C>T | CA480090805 | HOTAIR,HOXC11 | c.477C>T (p.Tyr159=) n.59+1180G>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.53973719T>A | CA385105029 | HOTAIR,HOXC11 | c.478T>A (p.Cys160Ser) n.59+1179A>T | |
12 | g.53973719T>C | CA385105031 | HOTAIR,HOXC11 | c.478T>C (p.Cys160Arg) n.59+1179A>G | |
12 | g.53973719T>G | CA385105034 | HOTAIR,HOXC11 | c.478T>G (p.Cys160Gly) n.59+1179A>C | |
12 | g.53973720G>A | CA6604246 | HOTAIR,HOXC11 | c.479G>A (p.Cys160Tyr) n.59+1178C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.53973720G>C | CA385105040 | HOTAIR,HOXC11 | c.479G>C (p.Cys160Ser) n.59+1178C>G | |
12 | g.53973720G= | CA2037241110 | HOTAIR,HOXC11 | c.479G= (p.Cys160=) n.59+1178C= | |
12 | g.53973720G>T | CA385105043 | HOTAIR,HOXC11 | c.479G>T (p.Cys160Phe) n.59+1178C>A | |
12 | g.53973721C>A | CA385105046 | HOTAIR,HOXC11 | c.480C>A (p.Cys160Ter) n.59+1177G>T | |
12 | g.53973721C= | CA2037241111 | HOTAIR,HOXC11 | c.480C= (p.Cys160=) n.59+1177G= | |
12 | g.53973721C>G | CA385105048 | HOTAIR,HOXC11 | c.480C>G (p.Cys160Trp) n.59+1177G>C | |
12 | g.53973721C>T | CA480090806 | HOTAIR,HOXC11 | c.480C>T (p.Cys160=) n.59+1177G>A | dbSNP gnomAD v2 |
12 | g.53973722G>A | CA385105050 | HOTAIR,HOXC11 | c.481G>A (p.Gly161Ser) n.59+1176C>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.53973722G>C | CA385105054 | HOTAIR,HOXC11 | c.481G>C (p.Gly161Arg) n.59+1176C>G | |
12 | g.53973722G= | CA2037241113 | HOTAIR,HOXC11 | c.481G= (p.Gly161=) n.59+1176C= | |
12 | g.53973722G>T | CA385105051 | HOTAIR,HOXC11 | c.481G>T (p.Gly161Cys) n.59+1176C>A | |
12 | g.53973723G>A | CA385105057 | HOTAIR,HOXC11 | c.482G>A (p.Gly161Asp) n.59+1175C>T | |
12 | g.53973723G>C | CA385105058 | HOTAIR,HOXC11 | c.482G>C (p.Gly161Ala) n.59+1175C>G | |
12 | g.53973723G>T | CA385105061 | HOTAIR,HOXC11 | c.482G>T (p.Gly161Val) n.59+1175C>A | |
12 | g.53973724T>A | CA480090807 | HOTAIR,HOXC11 | c.483T>A (p.Gly161=) n.59+1174A>T | |
12 | g.53973724T>C | CA480090808 | HOTAIR,HOXC11 | c.483T>C (p.Gly161=) n.59+1174A>G | gnomAD v4 |
12 | g.53973724T>G | CA480090809 | HOTAIR,HOXC11 | c.483T>G (p.Gly161=) n.59+1174A>C | |
12 | g.53973725G>A | CA385105064 | HOTAIR,HOXC11 | c.484G>A (p.Gly162Ser) n.59+1173C>T | |
12 | g.53973725G>C | CA385105066 | HOTAIR,HOXC11 | c.484G>C (p.Gly162Arg) n.59+1173C>G | |
12 | g.53973725G>T | CA385105068 | HOTAIR,HOXC11 | c.484G>T (p.Gly162Cys) n.59+1173C>A | |
12 | g.53973726G>A | CA385105072 | HOTAIR,HOXC11 | c.485G>A (p.Gly162Asp) n.59+1172C>T | gnomAD v4 |
12 | g.53973726G>C | CA385105074 | HOTAIR,HOXC11 | c.485G>C (p.Gly162Ala) n.59+1172C>G | |
12 | g.53973726G>T | CA385105076 | HOTAIR,HOXC11 | c.485G>T (p.Gly162Val) n.59+1172C>A | gnomAD v4 |
12 | g.53973727C>A | CA480090810 | HOTAIR,HOXC11 | c.486C>A (p.Gly162=) n.59+1171G>T | gnomAD v4 |
12 | g.53973727C= | CA2037241115 | HOTAIR,HOXC11 | c.486C= (p.Gly162=) n.59+1171G= | |
12 | g.53973727C>G | CA480090811 | HOTAIR,HOXC11 | c.486C>G (p.Gly162=) n.59+1171G>C | gnomAD v4 |
12 | g.53973727C>T | CA6604247 | HOTAIR,HOXC11 | c.486C>T (p.Gly162=) n.59+1171G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.53973728G>A | CA237397952 | HOTAIR,HOXC11 | c.487G>A (p.Gly163Ser) n.59+1170C>T | dbSNP |
12 | g.53973728G>C | CA6604248 | HOTAIR,HOXC11 | c.487G>C (p.Gly163Arg) n.59+1170C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.53973728G= | CA2037241116 | HOTAIR,HOXC11 | c.487G= (p.Gly163=) n.59+1170C= | |
12 | g.53973728G>T | CA385105081 | HOTAIR,HOXC11 | c.487G>T (p.Gly163Cys) n.59+1170C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.53973729G>A | CA385105095 | HOTAIR,HOXC11 | c.488G>A (p.Gly163Asp) n.59+1169C>T | |
12 | g.53973729G>C | CA385105101 | HOTAIR,HOXC11 | c.488G>C (p.Gly163Ala) n.59+1169C>G | |
12 | g.53973729G>T | CA385105098 | HOTAIR,HOXC11 | c.488G>T (p.Gly163Val) n.59+1169C>A | |
12 | g.53973730C>A | CA6604249 | HOTAIR,HOXC11 | c.489C>A (p.Gly163=) n.59+1168G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.53973730C= | CA2037241119 | HOTAIR,HOXC11 | c.489C= (p.Gly163=) n.59+1168G= | |
12 | g.53973730C>G | CA480090814 | HOTAIR,HOXC11 | c.489C>G (p.Gly163=) n.59+1168G>C | |
12 | g.53973730C>T | CA480090813 | HOTAIR,HOXC11 | c.489C>T (p.Gly163=) n.59+1168G>A | |
12 | g.53973730_53973731insTCCTTT | CA2796041905 | HOTAIR,HOXC11 | c.489_490insTCCTTT (p.Gly163_Asp164insSerPhe) n.59+1167_59+1168insAAAGGA | |
12 | g.53973731G>A | CA385105108 | HOTAIR,HOXC11 | c.490G>A (p.Asp164Asn) n.59+1167C>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.53973731G>C | CA385105111 | HOTAIR,HOXC11 | c.490G>C (p.Asp164His) n.59+1167C>G | gnomAD v4 |
12 | g.53973731G= | CA2037241120 | HOTAIR,HOXC11 | c.490G= (p.Asp164=) n.59+1167C= | |
12 | g.53973731G>T | CA385105113 | HOTAIR,HOXC11 | c.490G>T (p.Asp164Tyr) n.59+1167C>A | |
12 | g.53973732A= | CA2037241121 | HOTAIR,HOXC11 | c.491A= (p.Asp164=) n.59+1166T= | |
12 | g.53973732A>C | CA6604250 | HOTAIR,HOXC11 | c.491A>C (p.Asp164Ala) n.59+1166T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.53973732A>G | CA385105116 | HOTAIR,HOXC11 | c.491A>G (p.Asp164Gly) n.59+1166T>C | dbSNP |
12 | g.53973732A>T | CA385105117 | HOTAIR,HOXC11 | c.491A>T (p.Asp164Val) n.59+1166T>A | |
12 | g.53973733C>A | CA385105118 | HOTAIR,HOXC11 | c.492C>A (p.Asp164Glu) n.59+1165G>T | |
12 | g.53973733C= | CA2037241122 | HOTAIR,HOXC11 | c.492C= (p.Asp164=) n.59+1165G= | |
12 | g.53973733C>G | CA385105119 | HOTAIR,HOXC11 | c.492C>G (p.Asp164Glu) n.59+1165G>C | |
12 | g.53973733C>T | CA6604251 | HOTAIR,HOXC11 | c.492C>T (p.Asp164=) n.59+1165G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.53973734C>A | CA385105128 | HOTAIR,HOXC11 | c.493C>A (p.Pro165Thr) n.59+1164G>T | |
12 | g.53973734C= | CA2037241123 | HOTAIR,HOXC11 | c.493C= (p.Pro165=) n.59+1164G= | |
12 | g.53973734C>G | CA385105126 | HOTAIR,HOXC11 | c.493C>G (p.Pro165Ala) n.59+1164G>C | dbSNP |
12 | g.53973734C>T | CA385105124 | HOTAIR,HOXC11 | c.493C>T (p.Pro165Ser) n.59+1164G>A | |
12 | g.53973735C>A | CA385105130 | HOTAIR,HOXC11 | c.494C>A (p.Pro165Gln) n.59+1163G>T | gnomAD v4 |
12 | g.53973735C>G | CA385105131 | HOTAIR,HOXC11 | c.494C>G (p.Pro165Arg) n.59+1163G>C | |
12 | g.53973735C>T | CA385105133 | HOTAIR,HOXC11 | c.494C>T (p.Pro165Leu) n.59+1163G>A | gnomAD v4 |
12 | g.53973736G>A | CA6604253 | HOTAIR,HOXC11 | c.495G>A (p.Pro165=) n.59+1162C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.53973736G>C | CA6604252 | HOTAIR,HOXC11 | c.495G>C (p.Pro165=) n.59+1162C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.53973736G= | CA2037241126 | HOTAIR,HOXC11 | c.495G= (p.Pro165=) n.59+1162C= | |
12 | g.53973736G>T | CA480090816 | HOTAIR,HOXC11 | c.495G>T (p.Pro165=) n.59+1162C>A | |
12 | g.53973737C>A | CA385105139 | HOTAIR,HOXC11 | c.496C>A (p.Pro166Thr) n.59+1161G>T | |
12 | g.53973737C>G | CA385105140 | HOTAIR,HOXC11 | c.496C>G (p.Pro166Ala) n.59+1161G>C | |
12 | g.53973737C>T | CA385105144 | HOTAIR,HOXC11 | c.496C>T (p.Pro166Ser) n.59+1161G>A | |
12 | g.53973738C>A | CA385105147 | HOTAIR,HOXC11 | c.497C>A (p.Pro166His) n.59+1160G>T | |
12 | g.53973738C= | CA2037241127 | HOTAIR,HOXC11 | c.497C= (p.Pro166=) n.59+1160G= | |
12 | g.53973738C>G | CA385105149 | HOTAIR,HOXC11 | c.497C>G (p.Pro166Arg) n.59+1160G>C | dbSNP |
12 | g.53973738C>T | CA385105152 | HOTAIR,HOXC11 | c.497C>T (p.Pro166Leu) n.59+1160G>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.53973739C>A | CA6604254 | HOTAIR,HOXC11 | c.498C>A (p.Pro166=) n.59+1159G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.53973739C= | CA2037241129 | HOTAIR,HOXC11 | c.498C= (p.Pro166=) n.59+1159G= | |
12 | g.53973739C>G | CA480090817 | HOTAIR,HOXC11 | c.498C>G (p.Pro166=) n.59+1159G>C | |
12 | g.53973739C>T | CA480090818 | HOTAIR,HOXC11 | c.498C>T (p.Pro166=) n.59+1159G>A | gnomAD v4 COSMIC |
12 | g.53973740G>A | CA385105160 | HOTAIR,HOXC11 | c.499G>A (p.Ala167Thr) n.59+1158C>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.53973740G>C | CA385105163 | HOTAIR,HOXC11 | c.499G>C (p.Ala167Pro) n.59+1158C>G | |
12 | g.53973740G= | CA2037241130 | HOTAIR,HOXC11 | c.499G= (p.Ala167=) n.59+1158C= | |
12 | g.53973740G>T | CA385105158 | HOTAIR,HOXC11 | c.499G>T (p.Ala167Ser) n.59+1158C>A | dbSNP gnomAD v3 gnomAD v4 |
12 | g.53973741C>A | CA385105167 | HOTAIR,HOXC11 | c.500C>A (p.Ala167Asp) n.59+1157G>T | |
12 | g.53973741C>G | CA385105169 | HOTAIR,HOXC11 | c.500C>G (p.Ala167Gly) n.59+1157G>C | |
12 | g.53973741C>T | CA385105172 | HOTAIR,HOXC11 | c.500C>T (p.Ala167Val) n.59+1157G>A | |
12 | g.53973741_53973742insACCAAA | CA2796041906 | HOTAIR,HOXC11 | c.500_501insACCAAA (p.Ala167_Glu168insProAsn) n.59+1156_59+1157insTTTGGT | |
12 | g.53973742C>A | CA480090819 | HOTAIR,HOXC11 | c.501C>A (p.Ala167=) n.59+1156G>T | |
12 | g.53973742C>G | CA480090820 | HOTAIR,HOXC11 | c.501C>G (p.Ala167=) n.59+1156G>C | |
12 | g.53973742C>T | CA480090821 | HOTAIR,HOXC11 | c.501C>T (p.Ala167=) n.59+1156G>A | |
12 | g.53973743G>A | CA6604255 | HOTAIR,HOXC11 | c.502G>A (p.Glu168Lys) n.59+1155C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.53973743G>C | CA385105175 | HOTAIR,HOXC11 | c.502G>C (p.Glu168Gln) n.59+1155C>G | |
12 | g.53973743G= | CA2037241133 | HOTAIR,HOXC11 | c.502G= (p.Glu168=) n.59+1155C= | |
12 | g.53973743G>T | CA385105178 | HOTAIR,HOXC11 | c.502G>T (p.Glu168Ter) n.59+1155C>A | |
12 | g.53973744A>C | CA385105185 | HOTAIR,HOXC11 | c.503A>C (p.Glu168Ala) n.59+1154T>G | |
12 | g.53973744A>G | CA385105182 | HOTAIR,HOXC11 | c.503A>G (p.Glu168Gly) n.59+1154T>C | |
12 | g.53973744A>T | CA385105184 | HOTAIR,HOXC11 | c.503A>T (p.Glu168Val) n.59+1154T>A | |
12 | g.53973745G>A | CA479965361 | HOTAIR,HOXC11 | c.504G>A (p.Glu168=) n.59+1153C>T | |
12 | g.53973745G>C | CA385105187 | HOTAIR,HOXC11 | c.504G>C (p.Glu168Asp) n.59+1153C>G | gnomAD v4 |
12 | g.53973745G= | CA2037241134 | HOTAIR,HOXC11 | c.504G= (p.Glu168=) n.59+1153C= | |
12 | g.53973745G>T | CA385105190 | HOTAIR,HOXC11 | c.504G>T (p.Glu168Asp) n.59+1153C>A | dbSNP |
12 | g.53973745_53973746delinsGC | CA2037241135 | HOTAIR,HOXC11 | c.504_505delinsGC (p.Glu168=) n.59+1152_59+1153delinsGC | |
12 | g.53973746C>A | CA385105194 | HOTAIR,HOXC11 | c.505C>A (p.Pro169Thr) n.59+1152G>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.53973746C= | CA2037241137 | HOTAIR,HOXC11 | c.505C= (p.Pro169=) n.59+1152G= | |
12 | g.53973746C>G | CA385105195 | HOTAIR,HOXC11 | c.505C>G (p.Pro169Ala) n.59+1152G>C | gnomAD v4 |
12 | g.53973746C>T | CA385105198 | HOTAIR,HOXC11 | c.505C>T (p.Pro169Ser) n.59+1152G>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.53973751dup | CA605245016 | HOTAIR,HOXC11 | c.510dup (p.Cys171LeufsTer24) n.59+1152dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.53973751del | CA605245014 | HOTAIR,HOXC11 | c.510del (p.Cys171AlafsTer?) n.59+1152del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.53973747C>A | CA6604256 | HOTAIR,HOXC11 | c.506C>A (p.Pro169His) n.59+1151G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.53973747C= | CA2037241139 | HOTAIR,HOXC11 | c.506C= (p.Pro169=) n.59+1151G= | |
12 | g.53973747C>G | CA385105202 | HOTAIR,HOXC11 | c.506C>G (p.Pro169Arg) n.59+1151G>C | dbSNP gnomAD v3 gnomAD v4 |
12 | g.53973747C>T | CA385105200 | HOTAIR,HOXC11 | c.506C>T (p.Pro169Leu) n.59+1151G>A | |
12 | g.53973748C>A | CA479965362 | HOTAIR,HOXC11 | c.507C>A (p.Pro169=) n.59+1150G>T | |
12 | g.53973748C>G | CA479965363 | HOTAIR,HOXC11 | c.507C>G (p.Pro169=) n.59+1150G>C | |
12 | g.53973748C>T | CA479965364 | HOTAIR,HOXC11 | c.507C>T (p.Pro169=) n.59+1150G>A | COSMIC |
12 | g.53973749C>A | CA385105205 | HOTAIR,HOXC11 | c.508C>A (p.Pro170Thr) n.59+1149G>T | |
12 | g.53973749C>G | CA385105207 | HOTAIR,HOXC11 | c.508C>G (p.Pro170Ala) n.59+1149G>C | |
12 | g.53973749C>T | CA385105210 | HOTAIR,HOXC11 | c.508C>T (p.Pro170Ser) n.59+1149G>A | |
12 | g.53973750C>A | CA385105211 | HOTAIR,HOXC11 | c.509C>A (p.Pro170His) n.59+1148G>T | |
12 | g.53973750C= | CA2037241141 | HOTAIR,HOXC11 | c.509C= (p.Pro170=) n.59+1148G= | |
12 | g.53973750C>G | CA385105213 | HOTAIR,HOXC11 | c.509C>G (p.Pro170Arg) n.59+1148G>C | dbSNP |
12 | g.53973750C>T | CA6604257 | HOTAIR,HOXC11 | c.509C>T (p.Pro170Leu) n.59+1148G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.53973751C>A | CA479965366 | HOTAIR,HOXC11 | c.510C>A (p.Pro170=) n.59+1147G>T | |
12 | g.53973751C= | CA2037241144 | HOTAIR,HOXC11 | c.510C= (p.Pro170=) n.59+1147G= | |
12 | g.53973751C>G | CA237398001 | HOTAIR,HOXC11 | c.510C>G (p.Pro170=) n.59+1147G>C | dbSNP gnomAD v3 gnomAD v4 |
12 | g.53973751C>T | CA479965365 | HOTAIR,HOXC11 | c.510C>T (p.Pro170=) n.59+1147G>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.53973752T>A | CA385105219 | HOTAIR,HOXC11 | c.511T>A (p.Cys171Ser) n.59+1146A>T | |
12 | g.53973752T>C | CA385105221 | HOTAIR,HOXC11 | c.511T>C (p.Cys171Arg) n.59+1146A>G | COSMIC |
12 | g.53973752T>G | CA385105223 | HOTAIR,HOXC11 | c.511T>G (p.Cys171Gly) n.59+1146A>C | gnomAD v4 |
12 | g.53973753G>A | CA385105226 | HOTAIR,HOXC11 | c.512G>A (p.Cys171Tyr) n.59+1145C>T | |
12 | g.53973753G>C | CA385105229 | HOTAIR,HOXC11 | c.512G>C (p.Cys171Ser) n.59+1145C>G | |
12 | g.53973753G>T | CA385105231 | HOTAIR,HOXC11 | c.512G>T (p.Cys171Phe) n.59+1145C>A | |
12 | g.53973754C>A | CA385105234 | HOTAIR,HOXC11 | c.513C>A (p.Cys171Ter) n.59+1144G>T | |
12 | g.53973754C>G | CA385105236 | HOTAIR,HOXC11 | c.513C>G (p.Cys171Trp) n.59+1144G>C | |
12 | g.53973754C>T | CA479965367 | HOTAIR,HOXC11 | c.513C>T (p.Cys171=) n.59+1144G>A | |
12 | g.53973755T>A | CA385105238 | HOTAIR,HOXC11 | c.514T>A (p.Ser172Thr) n.59+1143A>T | |
12 | g.53973755T>C | CA385105244 | HOTAIR,HOXC11 | c.514T>C (p.Ser172Pro) n.59+1143A>G | |
12 | g.53973755T>G | CA385105241 | HOTAIR,HOXC11 | c.514T>G (p.Ser172Ala) n.59+1143A>C | |
12 | g.53973756C>A | CA385105247 | HOTAIR,HOXC11 | c.515C>A (p.Ser172Tyr) n.59+1142G>T | gnomAD v4 |
12 | g.53973756C= | CA2037241146 | HOTAIR,HOXC11 | c.515C= (p.Ser172=) n.59+1142G= | |
12 | g.53973756C>G | CA385105249 | HOTAIR,HOXC11 | c.515C>G (p.Ser172Cys) n.59+1142G>C | |
12 | g.53973756C>T | CA385105251 | HOTAIR,HOXC11 | c.515C>T (p.Ser172Phe) n.59+1142G>A | dbSNP gnomAD v4 |
12 | g.53973757C>A | CA479965368 | HOTAIR,HOXC11 | c.516C>A (p.Ser172=) n.59+1141G>T | dbSNP |
12 | g.53973757C= | CA2037241150 | HOTAIR,HOXC11 | c.516C= (p.Ser172=) n.59+1141G= | |
12 | g.53973757C>G | CA479965370 | HOTAIR,HOXC11 | c.516C>G (p.Ser172=) n.59+1141G>C | |
12 | g.53973757C>T | CA479965369 | HOTAIR,HOXC11 | c.516C>T (p.Ser172=) n.59+1141G>A | gnomAD v4 |
12 | g.53973758G>A | CA6604258 | HOTAIR,HOXC11 | c.517G>A (p.Gly173Ser) n.59+1140C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.53973758G>C | CA385105256 | HOTAIR,HOXC11 | c.517G>C (p.Gly173Arg) n.59+1140C>G | gnomAD v4 |
12 | g.53973758G= | CA2037241151 | HOTAIR,HOXC11 | c.517G= (p.Gly173=) n.59+1140C= | |
12 | g.53973758G>T | CA6604259 | HOTAIR,HOXC11 | c.517G>T (p.Gly173Cys) n.59+1140C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.53973759G>A | CA385105265 | HOTAIR,HOXC11 | c.518G>A (p.Gly173Asp) n.59+1139C>T | gnomAD v4 |
12 | g.53973759G>C | CA385105268 | HOTAIR,HOXC11 | c.518G>C (p.Gly173Ala) n.59+1139C>G | |
12 | g.53973759G= | CA2037241152 | HOTAIR,HOXC11 | c.518G= (p.Gly173=) n.59+1139C= | |
12 | g.53973759G>T | CA385105271 | HOTAIR,HOXC11 | c.518G>T (p.Gly173Val) n.59+1139C>A | |
12 | g.53973760C>A | CA479965371 | HOTAIR,HOXC11 | c.519C>A (p.Gly173=) n.59+1138G>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.53973760C= | CA2037241154 | HOTAIR,HOXC11 | c.519C= (p.Gly173=) n.59+1138G= | |
12 | g.53973760C>G | CA479965372 | HOTAIR,HOXC11 | c.519C>G (p.Gly173=) n.59+1138G>C | |
12 | g.53973760C>T | CA479965373 | HOTAIR,HOXC11 | c.519C>T (p.Gly173=) n.59+1138G>A | dbSNP gnomAD v4 |
12 | g.53973766_53973777dup | CA689961572 | HOTAIR,HOXC11 | c.525_536dup (p.Gly179_Glu180insGluAlaLysGly) n.59+1127_59+1138dup | dbSNP gnomAD v3 gnomAD v4 |
12 | g.53973761A= | CA2037241157 | HOTAIR,HOXC11 | c.520A= (p.Lys174=) n.59+1137T= | |
12 | g.53973761A>C | CA385105274 | HOTAIR,HOXC11 | c.520A>C (p.Lys174Gln) n.59+1137T>G | |
12 | g.53973761A>G | CA385105276 | HOTAIR,HOXC11 | c.520A>G (p.Lys174Glu) n.59+1137T>C | dbSNP gnomAD v4 |
12 | g.53973761A>T | CA385105279 | HOTAIR,HOXC11 | c.520A>T (p.Lys174Ter) n.59+1137T>A | |
12 | g.53973762A>C | CA385105282 | HOTAIR,HOXC11 | c.521A>C (p.Lys174Thr) n.59+1136T>G | |
12 | g.53973762A>G | CA385105280 | HOTAIR,HOXC11 | c.521A>G (p.Lys174Arg) n.59+1136T>C | |
12 | g.53973762A>T | CA385105281 | HOTAIR,HOXC11 | c.521A>T (p.Lys174Met) n.59+1136T>A | |
12 | g.53973763G>A | CA479965374 | HOTAIR,HOXC11 | c.522G>A (p.Lys174=) n.59+1135C>T | |
12 | g.53973763G>C | CA385105284 | HOTAIR,HOXC11 | c.522G>C (p.Lys174Asn) n.59+1135C>G | |
12 | g.53973763G>T | CA385105285 | HOTAIR,HOXC11 | c.522G>T (p.Lys174Asn) n.59+1135C>A | |
12 | g.53973764G>A | CA6604260 | HOTAIR,HOXC11 | c.523G>A (p.Gly175Ser) n.59+1134C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.53973764G>C | CA385105292 | HOTAIR,HOXC11 | c.523G>C (p.Gly175Arg) n.59+1134C>G | dbSNP gnomAD v3 gnomAD v4 |
12 | g.53973764G= | CA2037241159 | HOTAIR,HOXC11 | c.523G= (p.Gly175=) n.59+1134C= | |
12 | g.53973764G>T | CA6604261 | HOTAIR,HOXC11 | c.523G>T (p.Gly175Cys) n.59+1134C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.53973765G>A | CA385105296 | HOTAIR,HOXC11 | c.524G>A (p.Gly175Asp) n.59+1133C>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.53973765G>C | CA385105300 | HOTAIR,HOXC11 | c.524G>C (p.Gly175Ala) n.59+1133C>G | dbSNP |
12 | g.53973765G= | CA2037241165 | HOTAIR,HOXC11 | c.524G= (p.Gly175=) n.59+1133C= | |
12 | g.53973765G>T | CA385105301 | HOTAIR,HOXC11 | c.524G>T (p.Gly175Val) n.59+1133C>A | |
12 | g.53973766C>A | CA479965375 | HOTAIR,HOXC11 | c.525C>A (p.Gly175=) n.59+1132G>T | |
12 | g.53973766C= | CA2037241172 | HOTAIR,HOXC11 | c.525C= (p.Gly175=) n.59+1132G= | |
12 | g.53973766C>G | CA479965376 | HOTAIR,HOXC11 | c.525C>G (p.Gly175=) n.59+1132G>C | |
12 | g.53973766C>T | CA479965377 | HOTAIR,HOXC11 | c.525C>T (p.Gly175=) n.59+1132G>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.53973772_53973789del | CA2619096522 | HOTAIR,HOXC11 | c.531_548del (p.Lys178_Ala183del) n.59+1115_59+1132del | gnomAD v4 |
12 | g.53973767G>A | CA6604262 | HOTAIR,HOXC11 | c.526G>A (p.Glu176Lys) n.59+1131C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
12 | g.53973767G>C | CA385105306 | HOTAIR,HOXC11 | c.526G>C (p.Glu176Gln) n.59+1131C>G | |
12 | g.53973767G= | CA2037241177 | HOTAIR,HOXC11 | c.526G= (p.Glu176=) n.59+1131C= | |
12 | g.53973767G>T | CA385105314 | HOTAIR,HOXC11 | c.526G>T (p.Glu176Ter) n.59+1131C>A | gnomAD v4 |
12 | g.53973768A>C | CA385105322 | HOTAIR,HOXC11 | c.527A>C (p.Glu176Ala) n.59+1130T>G | |
12 | g.53973768A>G | CA385105320 | HOTAIR,HOXC11 | c.527A>G (p.Glu176Gly) n.59+1130T>C | |
12 | g.53973768A>T | CA385105318 | HOTAIR,HOXC11 | c.527A>T (p.Glu176Val) n.59+1130T>A | |
12 | g.53973769G>A | CA479965378 | HOTAIR,HOXC11 | c.528G>A (p.Glu176=) n.59+1129C>T | |
12 | g.53973769G>C | CA385105328 | HOTAIR,HOXC11 | c.528G>C (p.Glu176Asp) n.59+1129C>G | |
12 | g.53973769G= | CA2037241182 | HOTAIR,HOXC11 | c.528G= (p.Glu176=) n.59+1129C= | |
12 | g.53973769G>T | CA385105326 | HOTAIR,HOXC11 | c.528G>T (p.Glu176Asp) n.59+1129C>A | |
12 | g.53973769_53973770insT | CA385105331 | HOTAIR,HOXC11 | c.528_529insT (p.Ala177CysfsTer18) n.59+1128_59+1129insA | dbSNP |
12 | g.53973770G>A | CA385105332 | HOTAIR,HOXC11 | c.529G>A (p.Ala177Thr) n.59+1128C>T | |
12 | g.53973770G>C | CA385105334 | HOTAIR,HOXC11 | c.529G>C (p.Ala177Pro) n.59+1128C>G | |
12 | g.53973770G>T | CA385105336 | HOTAIR,HOXC11 | c.529G>T (p.Ala177Ser) n.59+1128C>A | |
12 | g.53973771C>A | CA385105339 | HOTAIR,HOXC11 | c.530C>A (p.Ala177Asp) n.59+1127G>T | |
12 | g.53973771C= | CA2037241186 | HOTAIR,HOXC11 | c.530C= (p.Ala177=) n.59+1127G= | |
12 | g.53973771C>G | CA385105341 | HOTAIR,HOXC11 | c.530C>G (p.Ala177Gly) n.59+1127G>C | dbSNP gnomAD v3 gnomAD v4 |
12 | g.53973771C>T | CA385105343 | HOTAIR,HOXC11 | c.530C>T (p.Ala177Val) n.59+1127G>A | |
12 | g.53973772C>A | CA479965380 | HOTAIR,HOXC11 | c.531C>A (p.Ala177=) n.59+1126G>T | |
12 | g.53973772C>G | CA479965381 | HOTAIR,HOXC11 | c.531C>G (p.Ala177=) n.59+1126G>C | |
12 | g.53973772C>T | CA479965379 | HOTAIR,HOXC11 | c.531C>T (p.Ala177=) n.59+1126G>A | |
12 | g.53973773A= | CA2037241188 | HOTAIR,HOXC11 | c.532A= (p.Lys178=) n.59+1125T= | |
12 | g.53973773A>C | CA385105347 | HOTAIR,HOXC11 | c.532A>C (p.Lys178Gln) n.59+1125T>G | |
12 | g.53973773A>G | CA6604263 | HOTAIR,HOXC11 | c.532A>G (p.Lys178Glu) n.59+1125T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.53973773A>T | CA385105351 | HOTAIR,HOXC11 | c.532A>T (p.Lys178Ter) n.59+1125T>A | gnomAD v4 |
12 | g.53973774A= | CA2037241192 | HOTAIR,HOXC11 | c.533A= (p.Lys178=) n.59+1124T= | |
12 | g.53973774A>C | CA385105354 | HOTAIR,HOXC11 | c.533A>C (p.Lys178Thr) n.59+1124T>G | dbSNP gnomAD v3 gnomAD v4 |
12 | g.53973774A>G | CA385105357 | HOTAIR,HOXC11 | c.533A>G (p.Lys178Arg) n.59+1124T>C | |
12 | g.53973774A>T | CA385105358 | HOTAIR,HOXC11 | c.533A>T (p.Lys178Met) n.59+1124T>A | |
12 | g.53973775G>A | CA479965382 | HOTAIR,HOXC11 | c.534G>A (p.Lys178=) n.59+1123C>T | |
12 | g.53973775G>C | CA385105364 | HOTAIR,HOXC11 | c.534G>C (p.Lys178Asn) n.59+1123C>G | |
12 | g.53973775G>T | CA385105367 | HOTAIR,HOXC11 | c.534G>T (p.Lys178Asn) n.59+1123C>A | |
12 | g.53973779dup | CA2619096536 | HOTAIR,HOXC11 | c.538dup (p.Glu180GlyfsTer15) n.59+1123dup | gnomAD v4 |
12 | g.53973776G>A | CA385105370 | HOTAIR,HOXC11 | c.535G>A (p.Gly179Arg) n.59+1122C>T | |
12 | g.53973776G>C | CA385105372 | HOTAIR,HOXC11 | c.535G>C (p.Gly179Arg) n.59+1122C>G | |
12 | g.53973776G>T | CA385105373 | HOTAIR,HOXC11 | c.535G>T (p.Gly179Trp) n.59+1122C>A | |
12 | g.53973777G>A | CA385105376 | HOTAIR,HOXC11 | c.536G>A (p.Gly179Glu) n.59+1121C>T | gnomAD v4 |
12 | g.53973777G>C | CA385105379 | HOTAIR,HOXC11 | c.536G>C (p.Gly179Ala) n.59+1121C>G | |
12 | g.53973777G>T | CA385105381 | HOTAIR,HOXC11 | c.536G>T (p.Gly179Val) n.59+1121C>A | |
12 | g.53973778G>A | CA6604264 | HOTAIR,HOXC11 | c.537G>A (p.Gly179=) n.59+1120C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.53973778G>C | CA479965383 | HOTAIR,HOXC11 | c.537G>C (p.Gly179=) n.59+1120C>G | |
12 | g.53973778G= | CA2037241194 | HOTAIR,HOXC11 | c.537G= (p.Gly179=) n.59+1120C= | |
12 | g.53973778G>T | CA479965384 | HOTAIR,HOXC11 | c.537G>T (p.Gly179=) n.59+1120C>A | COSMIC |
12 | g.53973779G>A | CA385105387 | HOTAIR,HOXC11 | c.538G>A (p.Glu180Lys) n.59+1119C>T | |
12 | g.53973779G>C | CA385105389 | HOTAIR,HOXC11 | c.538G>C (p.Glu180Gln) n.59+1119C>G | gnomAD v4 |
12 | g.53973779G>T | CA385105391 | HOTAIR,HOXC11 | c.538G>T (p.Glu180Ter) n.59+1119C>A | COSMIC |
12 | g.53973780A>C | CA385105394 | HOTAIR,HOXC11 | c.539A>C (p.Glu180Ala) n.59+1118T>G | |
12 | g.53973780A>G | CA385105395 | HOTAIR,HOXC11 | c.539A>G (p.Glu180Gly) n.59+1118T>C | |
12 | g.53973780A>T | CA385105400 | HOTAIR,HOXC11 | c.539A>T (p.Glu180Val) n.59+1118T>A | |
12 | g.53973780_53973808delinsAGCCCGAGGCACCCCCGGCCTCGGGACTG | CA2037241196 | HOTAIR,HOXC11 | c.539_567delinsAGCCCGAGGCACCCCCGGCCTCGGGACTG (p.Glu180=) n.59+1090_59+1118delinsCAGTCCCGAGGCCGGGGGTGCCTCGGGCT | |
12 | g.53973781G>A | CA237398023 | HOTAIR,HOXC11 | c.540G>A (p.Glu180=) n.59+1117C>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.53973781G>C | CA385105402 | HOTAIR,HOXC11 | c.540G>C (p.Glu180Asp) n.59+1117C>G | |
12 | g.53973781G= | CA2037241201 | HOTAIR,HOXC11 | c.540G= (p.Glu180=) n.59+1117C= | |
12 | g.53973781G>T | CA385105404 | HOTAIR,HOXC11 | c.540G>T (p.Glu180Asp) n.59+1117C>A | |
12 | g.53973783_53973810del | CA6604265 | HOTAIR,HOXC11 | c.542_569del (p.Pro181ArgfsTer?) n.59+1090_59+1117del | dbSNP ExAC |
12 | g.53973782C>A | CA385105407 | HOTAIR,HOXC11 | c.541C>A (p.Pro181Thr) n.59+1116G>T | |
12 | g.53973782C= | CA2037241205 | HOTAIR,HOXC11 | c.541C= (p.Pro181=) n.59+1116G= | |
12 | g.53973782C>G | CA385105408 | HOTAIR,HOXC11 | c.541C>G (p.Pro181Ala) n.59+1116G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.53973782C>T | CA6604266 | HOTAIR,HOXC11 | c.541C>T (p.Pro181Ser) n.59+1116G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.53973783C>A | CA385105411 | HOTAIR,HOXC11 | c.542C>A (p.Pro181His) n.59+1115G>T | |
12 | g.53973783C>G | CA385105412 | HOTAIR,HOXC11 | c.542C>G (p.Pro181Arg) n.59+1115G>C | |
12 | g.53973783C>T | CA385105415 | HOTAIR,HOXC11 | c.542C>T (p.Pro181Leu) n.59+1115G>A | gnomAD v4 |
12 | g.53973784C>A | CA479965385 | HOTAIR,HOXC11 | c.543C>A (p.Pro181=) n.59+1114G>T | gnomAD v4 |
12 | g.53973784C= | CA2037241208 | HOTAIR,HOXC11 | c.543C= (p.Pro181=) n.59+1114G= | |
12 | g.53973784C>G | CA479965386 | HOTAIR,HOXC11 | c.543C>G (p.Pro181=) n.59+1114G>C | gnomAD v4 |
12 | g.53973784C>T | CA6604267 | HOTAIR,HOXC11 | c.543C>T (p.Pro181=) n.59+1114G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.53973785G>A | CA385105421 | HOTAIR,HOXC11 | c.544G>A (p.Glu182Lys) n.59+1113C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.53973785G>C | CA385105423 | HOTAIR,HOXC11 | c.544G>C (p.Glu182Gln) n.59+1113C>G | |
12 | g.53973785G= | CA2037241211 | HOTAIR,HOXC11 | c.544G= (p.Glu182=) n.59+1113C= | |
12 | g.53973785G>T | CA385105426 | HOTAIR,HOXC11 | c.544G>T (p.Glu182Ter) n.59+1113C>A | |
12 | g.53973786A= | CA2037241214 | HOTAIR,HOXC11 | c.545A= (p.Glu182=) n.59+1112T= | |
12 | g.53973786A>C | CA385105427 | HOTAIR,HOXC11 | c.545A>C (p.Glu182Ala) n.59+1112T>G | gnomAD v4 |
12 | g.53973786A>G | CA385105428 | HOTAIR,HOXC11 | c.545A>G (p.Glu182Gly) n.59+1112T>C | |
12 | g.53973786A>T | CA385105429 | HOTAIR,HOXC11 | c.545A>T (p.Glu182Val) n.59+1112T>A | dbSNP |
12 | g.53973787G>A | CA479965387 | HOTAIR,HOXC11 | c.546G>A (p.Glu182=) n.59+1111C>T | |
12 | g.53973787G>C | CA385105430 | HOTAIR,HOXC11 | c.546G>C (p.Glu182Asp) n.59+1111C>G | |
12 | g.53973787G>T | CA385105431 | HOTAIR,HOXC11 | c.546G>T (p.Glu182Asp) n.59+1111C>A | |
12 | g.53973788G>A | CA385105433 | HOTAIR,HOXC11 | c.547G>A (p.Ala183Thr) n.59+1110C>T | gnomAD v4 |
12 | g.53973788G>C | CA385105436 | HOTAIR,HOXC11 | c.547G>C (p.Ala183Pro) n.59+1110C>G | |
12 | g.53973788G>T | CA385105435 | HOTAIR,HOXC11 | c.547G>T (p.Ala183Ser) n.59+1110C>A | |
12 | g.53973789C>A | CA385105439 | HOTAIR,HOXC11 | c.548C>A (p.Ala183Glu) n.59+1109G>T | |
12 | g.53973789C>G | CA385105440 | HOTAIR,HOXC11 | c.548C>G (p.Ala183Gly) n.59+1109G>C | |
12 | g.53973789C>T | CA385105441 | HOTAIR,HOXC11 | c.548C>T (p.Ala183Val) n.59+1109G>A | |
12 | g.53973790A= | CA2037241218 | HOTAIR,HOXC11 | c.549A= (p.Ala183=) n.59+1108T= | |
12 | g.53973790A>C | CA479965388 | HOTAIR,HOXC11 | c.549A>C (p.Ala183=) n.59+1108T>G | dbSNP |
12 | g.53973790A>G | CA479965389 | HOTAIR,HOXC11 | c.549A>G (p.Ala183=) n.59+1108T>C | |
12 | g.53973790A>T | CA479965390 | HOTAIR,HOXC11 | c.549A>T (p.Ala183=) n.59+1108T>A | dbSNP |
12 | g.53973791C>A | CA385105442 | HOTAIR,HOXC11 | c.550C>A (p.Pro184Thr) n.59+1107G>T | gnomAD v4 |
12 | g.53973791C= | CA2037241221 | HOTAIR,HOXC11 | c.550C= (p.Pro184=) n.59+1107G= | |
12 | g.53973791C>G | CA385105444 | HOTAIR,HOXC11 | c.550C>G (p.Pro184Ala) n.59+1107G>C | gnomAD v4 |
12 | g.53973791C>T | CA6604268 | HOTAIR,HOXC11 | c.550C>T (p.Pro184Ser) n.59+1107G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.53973795dup | CA2619096564 | HOTAIR,HOXC11 | c.554dup (p.Ala186GlyfsTer9) n.59+1107dup | gnomAD v4 |
12 | g.53973792C>A | CA385105449 | HOTAIR,HOXC11 | c.551C>A (p.Pro184His) n.59+1106G>T | |
12 | g.53973792C>G | CA385105451 | HOTAIR,HOXC11 | c.551C>G (p.Pro184Arg) n.59+1106G>C | |
12 | g.53973792C>T | CA385105453 | HOTAIR,HOXC11 | c.551C>T (p.Pro184Leu) n.59+1106G>A | COSMIC |
12 | g.53973793C>A | CA479965392 | HOTAIR,HOXC11 | c.552C>A (p.Pro184=) n.59+1105G>T | |
12 | g.53973793C>G | CA479965393 | HOTAIR,HOXC11 | c.552C>G (p.Pro184=) n.59+1105G>C | |
12 | g.53973793C>T | CA479965391 | HOTAIR,HOXC11 | c.552C>T (p.Pro184=) n.59+1105G>A | gnomAD v4 |
12 | g.53973794C>A | CA385105457 | HOTAIR,HOXC11 | c.553C>A (p.Pro185Thr) n.59+1104G>T | |
12 | g.53973794C>G | CA385105461 | HOTAIR,HOXC11 | c.553C>G (p.Pro185Ala) n.59+1104G>C | |
12 | g.53973794C>T | CA385105455 | HOTAIR,HOXC11 | c.553C>T (p.Pro185Ser) n.59+1104G>A | |
12 | g.53973795C>A | CA385105464 | HOTAIR,HOXC11 | c.554C>A (p.Pro185Gln) n.59+1103G>T | dbSNP gnomAD v4 |
12 | g.53973795C= | CA2037241223 | HOTAIR,HOXC11 | c.554C= (p.Pro185=) n.59+1103G= | |
12 | g.53973795C>G | CA385105466 | HOTAIR,HOXC11 | c.554C>G (p.Pro185Arg) n.59+1103G>C | gnomAD v4 |
12 | g.53973795C>T | CA6604269 | HOTAIR,HOXC11 | c.554C>T (p.Pro185Leu) n.59+1103G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.53973795_53973816delinsCGGCCTCGGGACTGGCGTCCCG | CA2037241225 | HOTAIR,HOXC11 | c.554_575delinsCGGCCTCGGGACTGGCGTCCCG (p.Pro185=) n.59+1082_59+1103delinsCGGGACGCCAGTCCCGAGGCCG | |
12 | g.53973795_53973796insTT | CA2575177060 | HOTAIR,HOXC11 | c.554_555insTT (p.Ala186TrpfsTer?) n.59+1102_59+1103insAA | gnomAD v4 |
12 | g.53973796G>A | CA479965394 | HOTAIR,HOXC11 | c.555G>A (p.Pro185=) n.59+1102C>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.53973796G>C | CA479965395 | HOTAIR,HOXC11 | c.555G>C (p.Pro185=) n.59+1102C>G | gnomAD v4 |
12 | g.53973796G= | CA2037241229 | HOTAIR,HOXC11 | c.555G= (p.Pro185=) n.59+1102C= | |
12 | g.53973796G>T | CA479965396 | HOTAIR,HOXC11 | c.555G>T (p.Pro185=) n.59+1102C>A | |
12 | g.53973799_53973819del | CA919091698 | HOTAIR,HOXC11 | c.558_578del (p.Ser187_Ala193del) n.59+1082_59+1102del | dbSNP |
12 | g.53973797G>A | CA385105471 | HOTAIR,HOXC11 | c.556G>A (p.Ala186Thr) n.59+1101C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.53973797G>C | CA385105474 | HOTAIR,HOXC11 | c.556G>C (p.Ala186Pro) n.59+1101C>G | |
12 | g.53973797G= | CA2037241231 | HOTAIR,HOXC11 | c.556G= (p.Ala186=) n.59+1101C= | |
12 | g.53973797G>T | CA385105475 | HOTAIR,HOXC11 | c.556G>T (p.Ala186Ser) n.59+1101C>A | |
12 | g.53973798C>A | CA385105479 | HOTAIR,HOXC11 | c.557C>A (p.Ala186Asp) n.59+1100G>T | |
12 | g.53973798C>G | CA385105483 | HOTAIR,HOXC11 | c.557C>G (p.Ala186Gly) n.59+1100G>C | |
12 | g.53973798C>T | CA385105486 | HOTAIR,HOXC11 | c.557C>T (p.Ala186Val) n.59+1100G>A | |
12 | g.53973799C>A | CA479965397 | HOTAIR,HOXC11 | c.558C>A (p.Ala186=) n.59+1099G>T | |
12 | g.53973799C>G | CA479965398 | HOTAIR,HOXC11 | c.558C>G (p.Ala186=) n.59+1099G>C | |
12 | g.53973799C>T | CA479965399 | HOTAIR,HOXC11 | c.558C>T (p.Ala186=) n.59+1099G>A | |
12 | g.53973800_53973801del | CA1139770127 | HOTAIR,HOXC11 | c.559_560del (p.Ser187GlyfsTer7) n.59+1098_59+1099del | |
12 | g.53973800T>A | CA385105490 | HOTAIR,HOXC11 | c.559T>A (p.Ser187Thr) n.59+1098A>T | gnomAD v4 |
12 | g.53973800T>C | CA385105493 | HOTAIR,HOXC11 | c.559T>C (p.Ser187Pro) n.59+1098A>G | |
12 | g.53973800T>G | CA385105495 | HOTAIR,HOXC11 | c.559T>G (p.Ser187Ala) n.59+1098A>C | gnomAD v4 |
12 | g.53973800_53973801insGGGGGGGGGG | CA2619096603 | HOTAIR,HOXC11 | c.559_560insGGGGGGGGGG (p.Ser187TrpfsTer11) n.59+1097_59+1098insCCCCCCCCCC | gnomAD v4 |
12 | g.53973800_53973801insGGGGGGGGGGGGGG | CA2619096602 | HOTAIR,HOXC11 | c.559_560insGGGGGGGGGGGGGG (p.Ser187TrpfsTer?) n.59+1097_59+1098insCCCCCCCCCCCCCC | gnomAD v4 |
12 | g.53973800_53973801insGGGGGGGGGGGGGGGGGGGG | CA2619096601 | HOTAIR,HOXC11 | c.559_560insGGGGGGGGGGGGGGGGGGGG (p.Ser187TrpfsTer?) n.59+1097_59+1098insCCCCCCCCCCCCCCCCCCCC | gnomAD v4 |
12 | g.53973800_53973801insGGGGGGGGGGGGGGGGGGGGG | CA2619096600 | HOTAIR,HOXC11 | c.559_560insGGGGGGGGGGGGGGGGGGGGG (p.Ser187delinsTrpGlyGlyGlyGlyGlyGlyAla) n.59+1097_59+1098insCCCCCCCCCCCCCCCCCCCCC | gnomAD v4 |
12 | g.53973800_53973801insGGGGGGGGGGGGGGGGGGGGGGG | CA2619096599 | HOTAIR,HOXC11 | c.559_560insGGGGGGGGGGGGGGGGGGGGGGG (p.Ser187TrpfsTer?) n.59+1097_59+1098insCCCCCCCCCCCCCCCCCCCCCCC | gnomAD v4 |
12 | g.53973800_53973801insGGGGGGGGGGGGGGGGGGGGGGGGG | CA2619096598 | HOTAIR,HOXC11 | c.559_560insGGGGGGGGGGGGGGGGGGGGGGGGG (p.Ser187TrpfsTer16) n.59+1097_59+1098insCCCCCCCCCCCCCCCCCCCCCCCCC | gnomAD v4 |
12 | g.53973800_53973801insGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2619096594 | HOTAIR,HOXC11 | c.559_560insGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Ser187TrpfsTer?) n.59+1097_59+1098insCCCCCCCCCCCCCCCCCCCCCCCCCC | gnomAD v4 |
12 | g.53973800_53973801insGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2619096596 | HOTAIR,HOXC11 | c.559_560insGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Ser187TrpfsTer17) n.59+1097_59+1098insCCCCCCCCCCCCCCCCCCCCCCCCCCCC | gnomAD v4 |
12 | g.53973800_53973801insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA1139770129 | HOTAIR,HOXC11 | c.559_560insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Ser187TrpfsTer?) n.59+1097_59+1098insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC | |
12 | g.53973800_53973801insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG | CA2497028806 | HOTAIR,HOXC11 | c.559_560insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG (p.Ser187delinsTrpGlyGlyGlyGlyGlyGlyGlyGlyGlyGlyAla) n.59+1097_59+1098insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC | |
12 | g.53973801del | CA1139770128 | HOTAIR,HOXC11 | c.560del (p.Ser187TrpfsTer?) n.59+1097del | gnomAD v4 |
12 | g.53973801C>A | CA385105501 | HOTAIR,HOXC11 | c.560C>A (p.Ser187Ter) n.59+1097G>T | |
12 | g.53973801C= | CA2037241232 | HOTAIR,HOXC11 | c.560C= (p.Ser187=) n.59+1097G= | |
12 | g.53973801C>G | CA385105503 | HOTAIR,HOXC11 | c.560C>G (p.Ser187Trp) n.59+1097G>C | dbSNP gnomAD v4 |
12 | g.53973801C>T | CA237398053 | HOTAIR,HOXC11 | c.560C>T (p.Ser187Leu) n.59+1097G>A | dbSNP gnomAD v3 gnomAD v4 |
12 | g.53973801_53973802insAGGGGGGGGGGGGGGG | CA1139770130 | HOTAIR,HOXC11 | c.560_561insAGGGGGGGGGGGGGGG (p.Leu189GlyfsTer11) n.59+1096_59+1097insCCCCCCCCCCCCCCCT | |
12 | g.53973802G>A | CA479965400 | HOTAIR,HOXC11 | c.561G>A (p.Ser187=) n.59+1096C>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.53973802G>C | CA479965401 | HOTAIR,HOXC11 | c.561G>C (p.Ser187=) n.59+1096C>G | |
12 | g.53973802G= | CA2037241235 | HOTAIR,HOXC11 | c.561G= (p.Ser187=) n.59+1096C= | |
12 | g.53973802G>T | CA479965402 | HOTAIR,HOXC11 | c.561G>T (p.Ser187=) n.59+1096C>A | gnomAD v4 |
12 | g.53973802_53973804dup | CA1139770303 | HOTAIR,HOXC11 | c.561_563dup (p.Gly188_Leu189insGly) n.59+1094_59+1096dup | |
12 | g.53973803G>A | CA385105506 | HOTAIR,HOXC11 | c.562G>A (p.Gly188Arg) n.59+1095C>T | |
12 | g.53973803G>C | CA385105508 | HOTAIR,HOXC11 | c.562G>C (p.Gly188Arg) n.59+1095C>G | |
12 | g.53973803G>T | CA385105510 | HOTAIR,HOXC11 | c.562G>T (p.Gly188Ter) n.59+1095C>A | |
12 | g.53973804G>A | CA385105514 | HOTAIR,HOXC11 | c.563G>A (p.Gly188Glu) n.59+1094C>T | |
12 | g.53973804G>C | CA385105515 | HOTAIR,HOXC11 | c.563G>C (p.Gly188Ala) n.59+1094C>G | |
12 | g.53973804G= | CA2037241237 | HOTAIR,HOXC11 | c.563G= (p.Gly188=) n.59+1094C= | |
12 | g.53973804G>T | CA385105517 | HOTAIR,HOXC11 | c.563G>T (p.Gly188Val) n.59+1094C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.53973805A>C | CA479965403 | HOTAIR,HOXC11 | c.564A>C (p.Gly188=) n.59+1093T>G | gnomAD v3 gnomAD v4 |
12 | g.53973805A>G | CA479965404 | HOTAIR,HOXC11 | c.564A>G (p.Gly188=) n.59+1093T>C | gnomAD v4 |
12 | g.53973805A>T | CA479965405 | HOTAIR,HOXC11 | c.564A>T (p.Gly188=) n.59+1093T>A | |
12 | g.53973805_53973807del | CA1139655184 | HOTAIR,HOXC11 | c.564_566del (p.Leu189del) n.59+1091_59+1093del | gnomAD v4 |
12 | g.53973805_53973815del | CA2796041907 | HOTAIR,HOXC11 | c.564_574del (p.Leu189GlyfsTer2) n.59+1083_59+1093del | |
12 | g.53973806C>A | CA385105520 | HOTAIR,HOXC11 | c.565C>A (p.Leu189Met) n.59+1092G>T | |
12 | g.53973806C>G | CA385105521 | HOTAIR,HOXC11 | c.565C>G (p.Leu189Val) n.59+1092G>C | |
12 | g.53973806C>T | CA479965406 | HOTAIR,HOXC11 | c.565C>T (p.Leu189=) n.59+1092G>A | |
12 | g.53973806_53973825del | CA2619096609 | HOTAIR,HOXC11 | c.565_584del (p.Leu189GlyfsTer7) n.59+1073_59+1092del | gnomAD v4 |
12 | g.53973806_53973807insG | CA2619096613 | HOTAIR,HOXC11 | c.565_566insG (p.Leu189ArgfsTer6) n.59+1091_59+1092insC | gnomAD v4 |
12 | g.53973807T>A | CA385105526 | HOTAIR,HOXC11 | c.566T>A (p.Leu189Gln) n.59+1091A>T | gnomAD v3 gnomAD v4 |
12 | g.53973807T>C | CA6604270 | HOTAIR,HOXC11 | c.566T>C (p.Leu189Pro) n.59+1091A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.53973807T>G | CA385105528 | HOTAIR,HOXC11 | c.566T>G (p.Leu189Arg) n.59+1091A>C | gnomAD v4 |
12 | g.53973807T= | CA2037241239 | HOTAIR,HOXC11 | c.566T= (p.Leu189=) n.59+1091A= | |
12 | g.53973808G>A | CA479965408 | HOTAIR,HOXC11 | c.567G>A (p.Leu189=) n.59+1090C>T | gnomAD v4 |
12 | g.53973808G>C | CA479965409 | HOTAIR,HOXC11 | c.567G>C (p.Leu189=) n.59+1090C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.53973808G= | CA2037241242 | HOTAIR,HOXC11 | c.567G= (p.Leu189=) n.59+1090C= | |
12 | g.53973808G>T | CA479965407 | HOTAIR,HOXC11 | c.567G>T (p.Leu189=) n.59+1090C>A | |
12 | g.53973809dup | CA2619096617 | HOTAIR,HOXC11 | c.568dup (p.Ala190GlyfsTer5) n.59+1090dup | gnomAD v4 |
12 | g.53973809G>A | CA385105531 | HOTAIR,HOXC11 | c.568G>A (p.Ala190Thr) n.59+1089C>T | dbSNP gnomAD v3 gnomAD v4 |
12 | g.53973809G>C | CA385105533 | HOTAIR,HOXC11 | c.568G>C (p.Ala190Pro) n.59+1089C>G | |
12 | g.53973809G= | CA2037241244 | HOTAIR,HOXC11 | c.568G= (p.Ala190=) n.59+1089C= | |
12 | g.53973809G>T | CA385105536 | HOTAIR,HOXC11 | c.568G>T (p.Ala190Ser) n.59+1089C>A | gnomAD v4 |
12 | g.53973810C>A | CA385105545 | HOTAIR,HOXC11 | c.569C>A (p.Ala190Glu) n.59+1088G>T | dbSNP gnomAD v2 gnomAD v4 |
12 | g.53973810C= | CA2037241246 | HOTAIR,HOXC11 | c.569C= (p.Ala190=) n.59+1088G= | |
12 | g.53973810C>G | CA385105543 | HOTAIR,HOXC11 | c.569C>G (p.Ala190Gly) n.59+1088G>C | ClinVar gnomAD v4 |
12 | g.53973810C>T | CA385105541 | HOTAIR,HOXC11 | c.569C>T (p.Ala190Val) n.59+1088G>A | gnomAD v4 |
12 | g.53973810_53973815del | CA1139655183 | HOTAIR,HOXC11 | c.569_574del (p.Ala190_Arg192delinsGly) n.59+1083_59+1088del | gnomAD v4 |
12 | g.53973811G>A | CA479965412 | HOTAIR,HOXC11 | c.570G>A (p.Ala190=) n.59+1087C>T | gnomAD v4 |
12 | g.53973811G>C | CA479965410 | HOTAIR,HOXC11 | c.570G>C (p.Ala190=) n.59+1087C>G | |
12 | g.53973811G>T | CA479965411 | HOTAIR,HOXC11 | c.570G>T (p.Ala190=) n.59+1087C>A | |
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 |