Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.5234375T>A | CA379277234 | HBD | c.59A>T (p.Asn20Ile) | |
11 | g.5234375T>C | CA379277235 | HBD | c.59A>G (p.Asn20Ser) | gnomAD v4 |
11 | g.5234375T>G | CA379277236 | HBD | c.59A>C (p.Asn20Thr) | |
11 | g.5234376T>A | CA379277237 | HBD | c.58A>T (p.Asn20Tyr) | |
11 | g.5234376T>C | CA379277239 | HBD | c.58A>G (p.Asn20Asp) | |
11 | g.5234376T>G | CA379277238 | HBD | c.58A>C (p.Asn20His) | |
11 | g.5234377C>A | CA472886002 | HBD | c.57G>T (p.Val19=) | |
11 | g.5234377C= | CA1949565784 | HBD | c.57G= (p.Val19=) | |
11 | g.5234377C>G | CA472886003 | HBD | c.57G>C (p.Val19=) | dbSNP gnomAD v2 |
11 | g.5234377C>T | CA472886004 | HBD | c.57G>A (p.Val19=) | gnomAD v4 |
11 | g.5234378A= | CA1949565790 | HBD | c.56T= (p.Val19=) | |
11 | g.5234378A>C | CA379277240 | HBD | c.56T>G (p.Val19Gly) | dbSNP |
11 | g.5234378A>G | CA379277241 | HBD | c.56T>C (p.Val19Ala) | gnomAD v4 |
11 | g.5234378A>T | CA379277242 | HBD | c.56T>A (p.Val19Glu) | |
11 | g.5234379C>A | CA379277243 | HBD | c.55G>T (p.Val19Leu) | gnomAD v4 |
11 | g.5234379C>G | CA379277244 | HBD | c.55G>C (p.Val19Leu) | |
11 | g.5234379C>T | CA379277245 | HBD | c.55G>A (p.Val19Met) | gnomAD v4 |
11 | g.5234380T>A | CA379277246 | HBD | c.54A>T (p.Lys18Asn) | |
11 | g.5234380T>C | CA472886008 | HBD | c.54A>G (p.Lys18=) | gnomAD v4 |
11 | g.5234380T>G | CA379277247 | HBD | c.54A>C (p.Lys18Asn) | COSMIC |
11 | g.5234381T>A | CA379277248 | HBD | c.53A>T (p.Lys18Ile) | |
11 | g.5234381T>C | CA379277249 | HBD | c.53A>G (p.Lys18Arg) | |
11 | g.5234381T>G | CA379277250 | HBD | c.53A>C (p.Lys18Thr) | |
11 | g.5234382T>A | CA379277251 | HBD | c.52A>T (p.Lys18Ter) | dbSNP |
11 | g.5234382T>C | CA379277253 | HBD | c.52A>G (p.Lys18Glu) | |
11 | g.5234382T>G | CA379277252 | HBD | c.52A>C (p.Lys18Gln) | |
11 | g.5234382T= | CA1949565793 | HBD | c.52A= (p.Lys18=) | |
11 | g.5234383G>A | CA472886010 | HBD | c.51C>T (p.Gly17=) | |
11 | g.5234383G>C | CA472886011 | HBD | c.51C>G (p.Gly17=) | |
11 | g.5234383G= | CA1949565798 | HBD | c.51C= (p.Gly17=) | |
11 | g.5234383G>T | CA472886012 | HBD | c.51C>A (p.Gly17=) | dbSNP |
11 | g.5234384C>A | CA379277254 | HBD | c.50G>T (p.Gly17Val) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.5234384C= | CA1949565802 | HBD | c.50G= (p.Gly17=) | |
11 | g.5234384C>G | CA379277255 | HBD | c.50G>C (p.Gly17Ala) | |
11 | g.5234384C>T | CA379277256 | HBD | c.50G>A (p.Gly17Asp) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.5234387dup | CA2612149322 | HBD | c.50dup (p.Lys18GlnfsTer10) | gnomAD v4 |
11 | g.5234385C>A | CA379277257 | HBD | c.49G>T (p.Gly17Cys) | |
11 | g.5234385C= | CA1949565805 | HBD | c.49G= (p.Gly17=) | |
11 | g.5234385C>G | CA124633 | HBD | c.49G>C (p.Gly17Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.5234385C>T | CA379277258 | HBD | c.49G>A (p.Gly17Ser) | dbSNP COSMIC |
11 | g.5234386C>A | CA379277261 | HBD | c.48G>T (p.Trp16Cys) | gnomAD v4 COSMIC |
11 | g.5234386C= | CA1949565808 | HBD | c.48G= (p.Trp16=) | |
11 | g.5234386C>G | CA379277260 | HBD | c.48G>C (p.Trp16Cys) | |
11 | g.5234386C>T | CA379277259 | HBD | c.48G>A (p.Trp16Ter) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.5234387C>A | CA5839995 | HBD | c.47G>T (p.Trp16Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.5234387C= | CA1949565809 | HBD | c.47G= (p.Trp16=) | |
11 | g.5234387C>G | CA379277262 | HBD | c.47G>C (p.Trp16Ser) | |
11 | g.5234387C>T | CA379277263 | HBD | c.47G>A (p.Trp16Ter) | |
11 | g.5234388A= | CA1949565811 | HBD | c.46T= (p.Trp16=) | |
11 | g.5234388A>C | CA379277264 | HBD | c.46T>G (p.Trp16Gly) | dbSNP |
11 | g.5234388A>G | CA379277265 | HBD | c.46T>C (p.Trp16Arg) | |
11 | g.5234388A>T | CA379277266 | HBD | c.46T>A (p.Trp16Arg) | |
11 | g.5234389C>A | CA472886017 | HBD | c.45G>T (p.Leu15=) | |
11 | g.5234389C= | CA1949565812 | HBD | c.45G= (p.Leu15=) | |
11 | g.5234389C>G | CA472886018 | HBD | c.45G>C (p.Leu15=) | |
11 | g.5234389C>T | CA472886019 | HBD | c.45G>A (p.Leu15=) | dbSNP |
11 | g.5234390A>C | CA379277267 | HBD | c.44T>G (p.Leu15Arg) | |
11 | g.5234390A>G | CA379277269 | HBD | c.44T>C (p.Leu15Pro) | |
11 | g.5234390A>T | CA379277268 | HBD | c.44T>A (p.Leu15Gln) | |
11 | g.5234391G>A | CA5839996 | HBD | c.43C>T (p.Leu15=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.5234391G>C | CA379277270 | HBD | c.43C>G (p.Leu15Val) | gnomAD v4 |
11 | g.5234391G= | CA1949565813 | HBD | c.43C= (p.Leu15=) | |
11 | g.5234391G>T | CA379277271 | HBD | c.43C>A (p.Leu15Met) | |
11 | g.5234392G>A | CA472886020 | HBD | c.42C>T (p.Ala14=) | gnomAD v4 |
11 | g.5234392G>C | CA5839997 | HBD | c.42C>G (p.Ala14=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.5234392G= | CA1949565815 | HBD | c.42C= (p.Ala14=) | |
11 | g.5234392G>T | CA472886021 | HBD | c.42C>A (p.Ala14=) | |
11 | g.5234393G>A | CA379277272 | HBD | c.41C>T (p.Ala14Val) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.5234393G>C | CA379277273 | HBD | c.41C>G (p.Ala14Gly) | |
11 | g.5234393G= | CA1949565818 | HBD | c.41C= (p.Ala14=) | |
11 | g.5234393G>T | CA217124304 | HBD | c.41C>A (p.Ala14Asp) | dbSNP |
11 | g.5234394C>A | CA5839998 | HBD | c.40G>T (p.Ala14Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.5234394C= | CA1949565819 | HBD | c.40G= (p.Ala14=) | |
11 | g.5234394C>G | CA379277274 | HBD | c.40G>C (p.Ala14Pro) | |
11 | g.5234394C>T | CA379277275 | HBD | c.40G>A (p.Ala14Thr) | |
11 | g.5234395A= | CA1949565825 | HBD | c.39T= (p.Asn13=) | |
11 | g.5234395A>C | CA379277276 | HBD | c.39T>G (p.Asn13Lys) | |
11 | g.5234395A>G | CA472886025 | HBD | c.39T>C (p.Asn13=) | |
11 | g.5234395A>T | CA124655 | HBD | c.39T>A (p.Asn13Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.5234396T>A | CA379277277 | HBD | c.38A>T (p.Asn13Ile) | |
11 | g.5234396T>C | CA5839999 | HBD | c.38A>G (p.Asn13Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.5234396T>G | CA379277278 | HBD | c.38A>C (p.Asn13Thr) | gnomAD v4 |
11 | g.5234396T= | CA1949565832 | HBD | c.38A= (p.Asn13=) | |
11 | g.5234397T>A | CA379277279 | HBD | c.37A>T (p.Asn13Tyr) | |
11 | g.5234397T>C | CA379277280 | HBD | c.37A>G (p.Asn13Asp) | |
11 | g.5234397T>G | CA379277281 | HBD | c.37A>C (p.Asn13His) | |
11 | g.5234398G>A | CA472886027 | HBD | c.36C>T (p.Val12=) | gnomAD v4 |
11 | g.5234398G>C | CA472886028 | HBD | c.36C>G (p.Val12=) | |
11 | g.5234398G>T | CA472886029 | HBD | c.36C>A (p.Val12=) | COSMIC |
11 | g.5234399A= | CA1949565835 | HBD | c.35T= (p.Val12=) | |
11 | g.5234399A>C | CA5840000 | HBD | c.35T>G (p.Val12Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.5234399A>G | CA379277282 | HBD | c.35T>C (p.Val12Ala) | |
11 | g.5234399A>T | CA379277283 | HBD | c.35T>A (p.Val12Asp) | |
11 | g.5234400C>A | CA379277284 | HBD | c.34G>T (p.Val12Phe) | |
11 | g.5234400C>G | CA379277285 | HBD | c.34G>C (p.Val12Leu) | |
11 | g.5234400C>T | CA379277286 | HBD | c.34G>A (p.Val12Ile) | COSMIC |
11 | g.5234401A= | CA1949565839 | HBD | c.33T= (p.Ala11=) | |
11 | g.5234401A>C | CA5840001 | HBD | c.33T>G (p.Ala11=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.5234401A>G | CA472886033 | HBD | c.33T>C (p.Ala11=) | gnomAD v4 |
11 | g.5234401A>T | CA472886034 | HBD | c.33T>A (p.Ala11=) | |
11 | g.5234402G>A | CA379277287 | HBD | c.32C>T (p.Ala11Val) | |
11 | g.5234402G>C | CA379277288 | HBD | c.32C>G (p.Ala11Gly) | |
11 | g.5234402G>T | CA379277289 | HBD | c.32C>A (p.Ala11Asp) | |
11 | g.5234403del | CA2695213013 | HBD | c.31del (p.Ala11LeufsTer9) | |
11 | g.5234403C>A | CA379277292 | HBD | c.31G>T (p.Ala11Ser) | |
11 | g.5234403C>G | CA379277290 | HBD | c.31G>C (p.Ala11Pro) | |
11 | g.5234403C>T | CA379277291 | HBD | c.31G>A (p.Ala11Thr) | COSMIC |
11 | g.5234404A>C | CA472886036 | HBD | c.30T>G (p.Thr10=) | |
11 | g.5234404A>G | CA472886037 | HBD | c.30T>C (p.Thr10=) | |
11 | g.5234404A>T | CA472886038 | HBD | c.30T>A (p.Thr10=) | |
11 | g.5234405G>A | CA5840002 | HBD | c.29C>T (p.Thr10Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.5234405G>C | CA379277293 | HBD | c.29C>G (p.Thr10Ser) | |
11 | g.5234405G= | CA1949565844 | HBD | c.29C= (p.Thr10=) | |
11 | g.5234405G>T | CA379277294 | HBD | c.29C>A (p.Thr10Asn) | |
11 | g.5234406T>A | CA5840003 | HBD | c.28A>T (p.Thr10Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.5234406T>C | CA379277295 | HBD | c.28A>G (p.Thr10Ala) | |
11 | g.5234406T>G | CA379277296 | HBD | c.28A>C (p.Thr10Pro) | gnomAD v4 |
11 | g.5234406T= | CA1949565848 | HBD | c.28A= (p.Thr10=) | |
11 | g.5234407C>A | CA379277297 | HBD | c.27G>T (p.Lys9Asn) | |
11 | g.5234407C>G | CA379277298 | HBD | c.27G>C (p.Lys9Asn) | |
11 | g.5234407C>T | CA472886042 | HBD | c.27G>A (p.Lys9=) | |
11 | g.5234408T>A | CA379277299 | HBD | c.26A>T (p.Lys9Met) | |
11 | g.5234408T>C | CA379277300 | HBD | c.26A>G (p.Lys9Arg) | |
11 | g.5234408T>G | CA379277301 | HBD | c.26A>C (p.Lys9Thr) | |
11 | g.5234409T>A | CA379277302 | HBD | c.25A>T (p.Lys9Ter) | |
11 | g.5234409T>C | CA217124358 | HBD | c.25A>G (p.Lys9Glu) | dbSNP |
11 | g.5234409T>G | CA379277303 | HBD | c.25A>C (p.Lys9Gln) | |
11 | g.5234409T= | CA1949565851 | HBD | c.25A= (p.Lys9=) | |
11 | g.5234409_5234412delinsTCTC | CA1949565854 | HBD | c.22_25delinsGAGA (p.Glu8=) | |
11 | g.5234410C>A | CA379277304 | HBD | c.24G>T (p.Glu8Asp) | gnomAD v4 |
11 | g.5234410C= | CA1949565857 | HBD | c.24G= (p.Glu8=) | |
11 | g.5234410C>G | CA217124369 | HBD | c.24G>C (p.Glu8Asp) | dbSNP |
11 | g.5234410C>T | CA472641226 | HBD | c.24G>A (p.Glu8=) | |
11 | g.5234413_5234415del | CA597218670 | HBD | c.22_24del (p.Glu8del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.5234411T>A | CA379277305 | HBD | c.23A>T (p.Glu8Val) | |
11 | g.5234411T>C | CA379277306 | HBD | c.23A>G (p.Glu8Gly) | |
11 | g.5234411T>G | CA217124380 | HBD | c.23A>C (p.Glu8Ala) | dbSNP |
11 | g.5234411T= | CA1949565863 | HBD | c.23A= (p.Glu8=) | |
11 | g.5234412C>A | CA379277307 | HBD | c.22G>T (p.Glu8Ter) | dbSNP gnomAD v4 |
11 | g.5234412C= | CA1949565866 | HBD | c.22G= (p.Glu8=) | |
11 | g.5234412C>G | CA379277308 | HBD | c.22G>C (p.Glu8Gln) | gnomAD v4 |
11 | g.5234412C>T | CA379277309 | HBD | c.22G>A (p.Glu8Lys) | COSMIC |
11 | g.5234413C>A | CA5840004 | HBD | c.21G>T (p.Glu7Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.5234413C= | CA1949565871 | HBD | c.21G= (p.Glu7=) | |
11 | g.5234413C>G | CA379277310 | HBD | c.21G>C (p.Glu7Asp) | |
11 | g.5234413C>T | CA472641227 | HBD | c.21G>A (p.Glu7=) | gnomAD v4 |
11 | g.5234414T>A | CA379277311 | HBD | c.20A>T (p.Glu7Val) | |
11 | g.5234414T>C | CA379277312 | HBD | c.20A>G (p.Glu7Gly) | |
11 | g.5234414T>G | CA379277313 | HBD | c.20A>C (p.Glu7Ala) | |
11 | g.5234415C>A | CA379277314 | HBD | c.19G>T (p.Glu7Ter) | |
11 | g.5234415C= | CA1949565875 | HBD | c.19G= (p.Glu7=) | |
11 | g.5234415C>G | CA217124387 | HBD | c.19G>C (p.Glu7Gln) | dbSNP |
11 | g.5234415C>T | CA379277315 | HBD | c.19G>A (p.Glu7Lys) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.5234416A>C | CA472641230 | HBD | c.18T>G (p.Pro6=) | |
11 | g.5234416A>G | CA472641228 | HBD | c.18T>C (p.Pro6=) | |
11 | g.5234416A>T | CA472641229 | HBD | c.18T>A (p.Pro6=) | |
11 | g.5234417G>A | CA5840005 | HBD | c.17C>T (p.Pro6Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.5234417G>C | CA379277316 | HBD | c.17C>G (p.Pro6Arg) | |
11 | g.5234417G= | CA1949565881 | HBD | c.17C= (p.Pro6=) | |
11 | g.5234417G>T | CA217124394 | HBD | c.17C>A (p.Pro6His) | dbSNP |
11 | g.5234418G>A | CA379277317 | HBD | c.16C>T (p.Pro6Ser) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.5234418G>C | CA5840006 | HBD | c.16C>G (p.Pro6Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.5234418G= | CA1949565884 | HBD | c.16C= (p.Pro6=) | |
11 | g.5234418G>T | CA379277318 | HBD | c.16C>A (p.Pro6Thr) | gnomAD v4 |
11 | g.5234419A>C | CA472641231 | HBD | c.15T>G (p.Thr5=) | |
11 | g.5234419A>G | CA472641232 | HBD | c.15T>C (p.Thr5=) | gnomAD v4 |
11 | g.5234419A>T | CA472641233 | HBD | c.15T>A (p.Thr5=) | |
11 | g.5234420G>A | CA5840007 | HBD | c.14C>T (p.Thr5Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.5234420G>C | CA5840008 | HBD | c.14C>G (p.Thr5Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.5234420G= | CA1949565891 | HBD | c.14C= (p.Thr5=) | |
11 | g.5234420G>T | CA379277319 | HBD | c.14C>A (p.Thr5Asn) | gnomAD v4 |
11 | g.5234421T>A | CA379277320 | HBD | c.13A>T (p.Thr5Ser) | |
11 | g.5234421T>C | CA379277321 | HBD | c.13A>G (p.Thr5Ala) | COSMIC |
11 | g.5234421T>G | CA379277322 | HBD | c.13A>C (p.Thr5Pro) | |
11 | g.5234422C>A | CA472641234 | HBD | c.12G>T (p.Leu4=) | |
11 | g.5234422C= | CA1949565898 | HBD | c.12G= (p.Leu4=) | |
11 | g.5234422C>G | CA472641235 | HBD | c.12G>C (p.Leu4=) | gnomAD v4 |
11 | g.5234422C>T | CA5840009 | HBD | c.12G>A (p.Leu4=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.5234423A>C | CA379277324 | HBD | c.11T>G (p.Leu4Arg) | |
11 | g.5234423A>G | CA379277325 | HBD | c.11T>C (p.Leu4Pro) | |
11 | g.5234423A>T | CA379277323 | HBD | c.11T>A (p.Leu4Gln) | |
11 | g.5234424G>A | CA472641236 | HBD | c.10C>T (p.Leu4=) | |
11 | g.5234424G>C | CA379277326 | HBD | c.10C>G (p.Leu4Val) | |
11 | g.5234424G>T | CA379277327 | HBD | c.10C>A (p.Leu4Met) | |
11 | g.5234425A= | CA1949565900 | HBD | c.9T= (p.His3=) | |
11 | g.5234425A>C | CA379277328 | HBD | c.9T>G (p.His3Gln) | |
11 | g.5234425A>G | CA472641237 | HBD | c.9T>C (p.His3=) | dbSNP gnomAD v4 |
11 | g.5234425A>T | CA379277329 | HBD | c.9T>A (p.His3Gln) | |
11 | g.5234426T>A | CA217124417 | HBD | c.8A>T (p.His3Leu) | dbSNP |
11 | g.5234426T>C | CA124659 | HBD | c.8A>G (p.His3Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.5234426T>G | CA379277330 | HBD | c.8A>C (p.His3Pro) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.5234426T= | CA1949565906 | HBD | c.8A= (p.His3=) | |
11 | g.5234427G>A | CA379277331 | HBD | c.7C>T (p.His3Tyr) | |
11 | g.5234427G>C | CA379277332 | HBD | c.7C>G (p.His3Asp) | |
11 | g.5234427G= | CA1949565918 | HBD | c.7C= (p.His3=) | |
11 | g.5234427G>T | CA5840010 | HBD | c.7C>A (p.His3Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.5234428C>A | CA472641238 | HBD | c.6G>T (p.Val2=) | |
11 | g.5234428C= | CA1949565920 | HBD | c.6G= (p.Val2=) | |
11 | g.5234428C>G | CA472641239 | HBD | c.6G>C (p.Val2=) | |
11 | g.5234428C>T | CA472641240 | HBD | c.6G>A (p.Val2=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.5234429A= | CA1949565926 | HBD | c.5T= (p.Val2=) | |
11 | g.5234429A>C | CA379277333 | HBD | c.5T>G (p.Val2Gly) | |
11 | g.5234429A>G | CA124680 | HBD | c.5T>C (p.Val2Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.5234429A>T | CA379277334 | HBD | c.5T>A (p.Val2Glu) | |
11 | g.5234430C>A | CA379277337 | HBD | c.4G>T (p.Val2Leu) | gnomAD v4 |
11 | g.5234430C>G | CA379277336 | HBD | c.4G>C (p.Val2Leu) | |
11 | g.5234430C>T | CA379277335 | HBD | c.4G>A (p.Val2Met) | |
11 | g.5234431C>A | CA379277338 | HBD | c.3G>T (p.Met1Ile) | |
11 | g.5234431C= | CA1949565931 | HBD | c.3G= (p.Met1=) | |
11 | g.5234431C>G | CA379277339 | HBD | c.3G>C (p.Met1Ile) | |
11 | g.5234431C>T | CA217124440 | HBD | c.3G>A (p.Met1Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.5234432A= | CA1949565936 | HBD | c.2T= (p.Met1=) | |
11 | g.5234432A>C | CA379277340 | HBD | c.2T>G (p.Met1Arg) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.5234432A>G | CA5840012 | HBD | c.2T>C (p.Met1Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.5234432A>T | CA379277341 | HBD | c.2T>A (p.Met1Lys) | gnomAD v4 |
11 | g.5234432_5234439delinsATGGTGTC | CA1949565935 | HBD | c.-6_2delinsGACACCAT | |
11 | g.5234433T>A | CA379277342 | HBD | c.1A>T (p.Met1Leu) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.5234433T>C | CA379277343 | HBD | c.1A>G (p.Met1Val) | COSMIC |
11 | g.5234433T>G | CA379277344 | HBD | c.1A>C (p.Met1Leu) | |
11 | g.5234433T= | CA1949565945 | HBD | c.1A= (p.Met1=) | |
11 | g.5234435_5234441del | CA5840011 | HBD | c.-6_1del (n.-6_1del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.5234434G>A | CA2612149359 | HBD | c.-1C>T (n.-1C>T) | gnomAD v4 |
11 | g.5234434G>C | CA2612149360 | HBD | c.-1C>G (n.-1C>G) | gnomAD v4 |
11 | g.5234435G>C | CA5840013 | HBD | c.-2C>G (n.-2C>G) | dbSNP ExAC gnomAD v2 |
11 | g.5234435G= | CA1949565946 | HBD | c.-2C= (n.-2C=) | |
11 | g.5234435G>T | CA597218682 | HBD | c.-2C>A (n.-2C>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.5234436T>G | CA5840014 | HBD | c.-3A>C (n.-3A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.5234436T= | CA1949565951 | HBD | c.-3A= (n.-3A=) | |
11 | g.5234438T>A | CA597218683 | HBD | c.-5A>T (n.-5A>T) | dbSNP gnomAD v2 |
11 | g.5234438T>G | CA1949565954 | HBD | c.-5A>C (n.-5A>C) | dbSNP |
11 | g.5234438T= | CA1949565955 | HBD | c.-5A= (n.-5A=) | |
11 | g.5234439_5234443delinsCTGTT | CA1949565957 | HBD | c.-10_-6delinsAACAG (n.-10_-6delinsAACAG) | |
11 | g.5234442_5234445del | CA918809823 | HBD | c.-10_-7del (n.-10_-7del) | dbSNP |
11 | g.5234441G>A | CA2790274425 | HBD | c.-8C>T (n.-8C>T) | |
11 | g.5234441G>C | CA677546888 | HBD | c.-8C>G (n.-8C>G) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.5234441G= | CA1949565964 | HBD | c.-8C= (n.-8C=) | |
11 | g.5234441G>T | CA2612149363 | HBD | c.-8C>A (n.-8C>A) | gnomAD v4 |
11 | g.5234443T>C | CA1949565968 | HBD | c.-10A>G (n.-10A>G) | dbSNP gnomAD v4 |
11 | g.5234443T= | CA1949565966 | HBD | c.-10A= (n.-10A=) | |
11 | g.5234444T>C | CA2612149365 | HBD | c.-11A>G (n.-11A>G) | gnomAD v4 |
11 | g.5234444_5234445del | CA2574735682 | HBD | c.-12_-11del (n.-12_-11del) | |
11 | g.5234445G>A | CA2612149366 | HBD | c.-12C>T (n.-12C>T) | gnomAD v4 |
11 | g.5234445G>C | CA597218684 | HBD | c.-12C>G (n.-12C>G) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.5234445G= | CA1949565969 | HBD | c.-12C= (n.-12C=) | |
11 | g.5234446A>T | CA2612149367 | HBD | c.-13T>A (n.-13T>A) | gnomAD v4 |
11 | g.5234447G>A | CA217124446 | HBD | c.-14C>T (n.-14C>T) | dbSNP |
11 | g.5234447G= | CA1949565971 | HBD | c.-14C= (n.-14C=) | |
11 | g.5234447G>T | CA2612149368 | HBD | c.-14C>A (n.-14C>A) | gnomAD v4 |
11 | g.5234448G>T | CA2574735683 | HBD | c.-15C>A (n.-15C>A) | gnomAD v4 |
11 | g.5234450del | CA2695213015 | HBD | c.-16del (n.-16del) | |
11 | g.5234450T>G | CA5840015 | HBD | c.-17A>C (n.-17A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.5234450T= | CA1949565973 | HBD | c.-17A= (n.-17A=) | |
11 | g.5234451G>C | CA2612149370 | HBD | c.-18C>G (n.-18C>G) | gnomAD v4 |
11 | g.5234451G= | CA1949565976 | HBD | c.-18C= (n.-18C=) | |
11 | g.5234451G>T | CA677546915 | HBD | c.-18C>A (n.-18C>A) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.5234453T>C | CA2612149372 | HBD | c.-20A>G (n.-20A>G) | gnomAD v4 |
11 | g.5234454A= | CA1949565977 | HBD | c.-21T= (n.-21T=) | |
11 | g.5234454A>G | CA1949565978 | HBD | c.-21T>C (n.-21T>C) | dbSNP gnomAD v4 |
11 | g.5234455G>A | CA597218685 | HBD | c.-22C>T (n.-22C>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.5234455G>C | CA2612149374 | HBD | c.-22C>G (n.-22C>G) | gnomAD v4 |
11 | g.5234455G= | CA1949565980 | HBD | c.-22C= (n.-22C=) | |
11 | g.5234455G>T | CA2612149373 | HBD | c.-22C>A (n.-22C>A) | gnomAD v4 |
11 | g.5234456T>A | CA2612149375 | HBD | c.-23A>T (n.-23A>T) | gnomAD v4 |
11 | g.5234456T>C | CA5840016 | HBD | c.-23A>G (n.-23A>G) | dbSNP ExAC gnomAD v4 |
11 | g.5234456T= | CA1949565981 | HBD | c.-23A= (n.-23A=) | |
11 | g.5234457G>T | CA2612149376 | HBD | c.-24C>A (n.-24C>A) | gnomAD v4 |
11 | g.5234457_5234458insT | CA653938471 | HBD | c.-25_-24insA (n.-25_-24insA) | COSMIC |
11 | g.5234458A>G | CA2612149377 | HBD | c.-25T>C (n.-25T>C) | gnomAD v4 |
11 | g.5234459A= | CA1949565984 | HBD | c.-26T= (n.-26T=) | |
11 | g.5234459A>G | CA5840017 | HBD | c.-26T>C (n.-26T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.5234460C>A | CA2612149379 | HBD | c.-27G>T (n.-27G>T) | gnomAD v4 |
11 | g.5234460C= | CA1949565990 | HBD | c.-27G= (n.-27G=) | |
11 | g.5234460C>T | CA597218686 | HBD | c.-27G>A (n.-27G>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.5234461A= | CA1949565994 | HBD | c.-28T= (n.-28T=) | |
11 | g.5234461A>G | CA2612149381 | HBD | c.-28T>C (n.-28T>C) | gnomAD v4 |
11 | g.5234461A>T | CA597218687 | HBD | c.-28T>A (n.-28T>A) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.5234462C>A | CA597218688 | HBD | c.-28-1G>T (n.-28-1G>T) c.-29G>T (n.-29G>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.5234462C= | CA1949565997 | HBD | c.-28-1G= (n.-28-1G=) c.-29G= (n.-29G=) | |
11 | g.5234462C>T | CA1949565998 | HBD | c.-28-1G>A (n.-28-1G>A) c.-29G>A (n.-29G>A) | dbSNP |
11 | g.5234463T>A | CA1949566000 | HBD | c.-28-2A>T (n.-28-2A>T) c.-30A>T (n.-30A>T) | dbSNP |
11 | g.5234463T>C | CA5840018 | HBD | c.-28-2A>G (n.-28-2A>G) c.-30A>G (n.-30A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.5234463T= | CA1949565999 | HBD | c.-28-2A= (n.-28-2A=) c.-30A= (n.-30A=) | |
11 | g.5234463_5234464insA | CA2574735684 | HBD | c.-28-3_-28-2insT (n.-28-3_-28-2insT) c.-31_-30insT (n.-31_-30insT) | gnomAD v4 |
11 | g.5234464G>T | CA2612149383 | HBD | c.-28-3C>A (n.-28-3C>A) c.-31C>A (n.-31C>A) | gnomAD v4 |
11 | g.5234465T>C | CA1949566002 | HBD | c.-28-4A>G (n.-28-4A>G) c.-32A>G (n.-32A>G) | dbSNP |
11 | g.5234465T= | CA1949566001 | HBD | c.-28-4A= (n.-28-4A=) c.-32A= (n.-32A=) | |
11 | g.5234467A= | CA1949566003 | HBD | c.-28-6T= (n.-28-6T=) c.-34T= (n.-34T=) | |
11 | g.5234467A>C | CA217124457 | HBD | c.-28-6T>G (n.-28-6T>G) c.-34T>G (n.-34T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.5234467A>G | CA2612149384 | HBD | c.-28-6T>C (n.-28-6T>C) c.-34T>C (n.-34T>C) | gnomAD v4 |
11 | g.5234467A>T | CA2790274427 | HBD | c.-28-6T>A (n.-28-6T>A) c.-34T>A (n.-34T>A) | |
11 | g.5234468T>A | CA2612149385 | HBD | c.-28-7A>T (n.-28-7A>T) c.-35A>T (n.-35A>T) | gnomAD v4 |
11 | g.5234468T>C | CA5840019 | HBD | c.-28-7A>G (n.-28-7A>G) c.-35A>G (n.-35A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.5234468T>G | CA677546946 | HBD | c.-28-7A>C (n.-28-7A>C) c.-35A>C (n.-35A>C) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.5234468T= | CA1949566004 | HBD | c.-28-7A= (n.-28-7A=) c.-35A= (n.-35A=) | |
11 | g.5234469G>A | CA2574735685 | HBD | c.-28-8C>T (n.-28-8C>T) c.-36C>T (n.-36C>T) | |
11 | g.5234469G>T | CA2612149387 | HBD | c.-28-8C>A (n.-28-8C>A) c.-36C>A (n.-36C>A) | gnomAD v4 |
11 | g.5234470T>C | CA677546950 | HBD | c.-28-9A>G (n.-28-9A>G) c.-37A>G (n.-37A>G) | dbSNP gnomAD v4 |
11 | g.5234470T= | CA1949566006 | HBD | c.-28-9A= (n.-28-9A=) c.-37A= (n.-37A=) | |
11 | g.5234472A= | CA1949566007 | HBD | c.-28-11T= (n.-28-11T=) c.-39T= (n.-39T=) | |
11 | g.5234472A>C | CA5840020 | HBD | c.-28-11T>G (n.-28-11T>G) c.-39T>G (n.-39T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.5234472A>G | CA1949566008 | HBD | c.-28-11T>C (n.-28-11T>C) c.-39T>C (n.-39T>C) | dbSNP |
11 | g.5234473G>T | CA2612149389 | HBD | c.-28-12C>A (n.-28-12C>A) c.-40C>A (n.-40C>A) | gnomAD v4 |
11 | g.5234473_5234474delinsGA | CA1949566009 | HBD | c.-28-13_-28-12delinsTC (n.-28-13_-28-12delinsTC) c.-41_-40delinsTC (n.-41_-40delinsTC) | |
11 | g.5234475del | CA1949566010 | HBD | c.-28-13del (n.-28-13del) c.-41del (n.-41del) | dbSNP |