Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.152862562G>A | CA2694983093 | NSDHL | c.415-34G>A (n.415-34G>A) c.463-34G>A (n.463-34G>A) | gnomAD v4 |
X | g.152862563T>C | CA2694983094 | NSDHL | c.415-33T>C (n.415-33T>C) c.463-33T>C (n.463-33T>C) | gnomAD v4 |
X | g.152862565A= | CA2466152365 | NSDHL | c.415-31A= (n.415-31A=) c.463-31A= (n.463-31A=) | |
X | g.152862565A>G | CA2579725460 | NSDHL | c.415-31A>G (n.415-31A>G) c.463-31A>G (n.463-31A>G) | |
X | g.152862565A>T | CA645215043 | NSDHL | c.415-31A>T (n.415-31A>T) c.463-31A>T (n.463-31A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.152862566C>A | CA2694983095 | NSDHL | c.415-30C>A (n.415-30C>A) c.463-30C>A (n.463-30C>A) | gnomAD v4 |
X | g.152862566_152862568delinsCTT | CA2466152366 | NSDHL | c.415-30_415-28delinsCTT (n.415-30_415-28delinsCTT) c.463-30_463-28delinsCTT (n.463-30_463-28delinsCTT) | |
X | g.152862567T>G | CA2579725461 | NSDHL | c.415-29T>G (n.415-29T>G) c.463-29T>G (n.463-29T>G) | |
X | g.152862569_152862570del | CA2466152367 | NSDHL | c.415-27_415-26del (n.415-27_415-26del) c.463-27_463-26del (n.463-27_463-26del) | dbSNP |
X | g.152862570T>G | CA2824241877 | NSDHL | c.415-26T>G (n.415-26T>G) c.463-26T>G (n.463-26T>G) | |
X | g.152862570_152862571delinsTA | CA2466152368 | NSDHL | c.415-26_415-25delinsTA (n.415-26_415-25delinsTA) c.463-26_463-25delinsTA (n.463-26_463-25delinsTA) | |
X | g.152862571del | CA645215044 | NSDHL | c.415-25del (n.415-25del) c.463-25del (n.463-25del) | dbSNP gnomAD v2 gnomAD v4 |
X | g.152862571A>G | CA2694983096 | NSDHL | c.415-25A>G (n.415-25A>G) c.463-25A>G (n.463-25A>G) | gnomAD v4 |
X | g.152862571A>T | CA658582172 | NSDHL | c.415-25A>T (n.415-25A>T) c.463-25A>T (n.463-25A>T) | COSMIC |
X | g.152862577dup | CA2694983097 | NSDHL | c.415-19dup (n.415-19dup) c.463-19dup (n.463-19dup) | gnomAD v4 |
X | g.152862573T>G | CA2694983098 | NSDHL | c.415-23T>G (n.415-23T>G) c.463-23T>G (n.463-23T>G) | gnomAD v4 |
X | g.152862578C>T | CA658582176 | NSDHL | c.415-18C>T (n.415-18C>T) c.463-18C>T (n.463-18C>T) | COSMIC |
X | g.152862579T>C | CA10544768 | NSDHL | c.415-17T>C (n.415-17T>C) c.463-17T>C (n.463-17T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.152862579T= | CA2466152369 | NSDHL | c.415-17T= (n.415-17T=) c.463-17T= (n.463-17T=) | |
X | g.152862580G>A | CA2694983099 | NSDHL | c.415-16G>A (n.415-16G>A) c.463-16G>A (n.463-16G>A) | gnomAD v4 |
X | g.152862581A>C | CA2840484208 | NSDHL | c.415-15A>C (n.415-15A>C) c.463-15A>C (n.463-15A>C) | |
X | g.152862581A>G | CA2694983100 | NSDHL | c.415-15A>G (n.415-15A>G) c.463-15A>G (n.463-15A>G) | gnomAD v4 |
X | g.152862582C>A | CA10544769 | NSDHL | c.415-14C>A (n.415-14C>A) c.463-14C>A (n.463-14C>A) | dbSNP ExAC gnomAD v4 |
X | g.152862582C= | CA2466152370 | NSDHL | c.415-14C= (n.415-14C=) c.463-14C= (n.463-14C=) | |
X | g.152862582C>T | CA645215047 | NSDHL | c.415-14C>T (n.415-14C>T) c.463-14C>T (n.463-14C>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.152862586C= | CA2466152371 | NSDHL | c.415-10C= (n.415-10C=) c.463-10C= (n.463-10C=) | |
X | g.152862586C>T | CA10544770 | NSDHL | c.415-10C>T (n.415-10C>T) c.463-10C>T (n.463-10C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.152862586_152862587del | CA2741805476 | NSDHL | c.415-10_415-9del (n.415-10_415-9del) c.463-10_463-9del (n.463-10_463-9del) | |
X | g.152862589_152862590del | CA2579725462 | NSDHL | c.415-7_415-6del (n.415-7_415-6del) c.463-7_463-6del (n.463-7_463-6del) | |
X | g.152862588T>C | CA2694983101 | NSDHL | c.415-8T>C (n.415-8T>C) c.463-8T>C (n.463-8T>C) | gnomAD v4 |
X | g.152862588_152862589insTTTTTT | CA2741805477 | NSDHL | c.415-8_415-7insTTTTTT (n.415-8_415-7insTTTTTT) c.463-8_463-7insTTTTTT (n.463-8_463-7insTTTTTT) | |
X | g.152862589C>T | CA2694983102 | NSDHL | c.415-7C>T (n.415-7C>T) c.463-7C>T (n.463-7C>T) | gnomAD v4 |
X | g.152862591G>A | CA873241369 | NSDHL | c.415-5G>A (n.415-5G>A) c.463-5G>A (n.463-5G>A) | dbSNP gnomAD v3 gnomAD v4 |
X | g.152862591G= | CA2466152372 | NSDHL | c.415-5G= (n.415-5G=) c.463-5G= (n.463-5G=) | |
X | g.152862591G>T | CA2824241879 | NSDHL | c.415-5G>T (n.415-5G>T) c.463-5G>T (n.463-5G>T) | |
X | g.152862592T>C | CA2529175406 | NSDHL | c.415-4T>C (n.415-4T>C) c.463-4T>C (n.463-4T>C) | gnomAD v3 gnomAD v4 |
X | g.152862593C>G | CA2579725463 | NSDHL | c.415-3C>G (n.415-3C>G) c.463-3C>G (n.463-3C>G) | gnomAD v4 |
X | g.152862593C>T | CA2824241880 | NSDHL | c.415-3C>T (n.415-3C>T) c.463-3C>T (n.463-3C>T) | |
X | g.152862594A>C | CA415285100 | NSDHL | c.415-2A>C (n.415-2A>C) c.463-2A>C (n.463-2A>C) | |
X | g.152862594A>G | CA415285101 | NSDHL | c.415-2A>G (n.415-2A>G) c.463-2A>G (n.463-2A>G) | |
X | g.152862594A>T | CA415285102 | NSDHL | c.415-2A>T (n.415-2A>T) c.463-2A>T (n.463-2A>T) | |
X | g.152862595G>A | CA415285103 | NSDHL | c.415-1G>A (n.415-1G>A) c.463-1G>A (n.463-1G>A) | |
X | g.152862595G>C | CA415285104 | NSDHL | c.415-1G>C (n.415-1G>C) c.463-1G>C (n.463-1G>C) | |
X | g.152862595G>T | CA415285105 | NSDHL | c.415-1G>T (n.415-1G>T) c.463-1G>T (n.463-1G>T) | |
X | g.152862596A= | CA2466152373 | NSDHL | c.415A= (p.Lys139=) c.463A= (p.Lys155=) | |
X | g.152862596A>C | CA415285106 | NSDHL | c.415A>C (p.Lys139Gln) c.463A>C (p.Lys155Gln) | |
X | g.152862596A>G | CA415285107 | NSDHL | c.415A>G (p.Lys139Glu) c.463A>G (p.Lys155Glu) | dbSNP gnomAD v3 gnomAD v4 |
X | g.152862596A>T | CA415285108 | NSDHL | c.415A>T (p.Lys139Ter) c.463A>T (p.Lys155Ter) | |
X | g.152862597A>C | CA415285110 | NSDHL | c.416A>C (p.Lys139Thr) c.464A>C (p.Lys155Thr) | |
X | g.152862597A>G | CA415285111 | NSDHL | c.416A>G (p.Lys139Arg) c.464A>G (p.Lys155Arg) | |
X | g.152862597A>T | CA415285109 | NSDHL | c.416A>T (p.Lys139Ile) c.464A>T (p.Lys155Ile) | |
X | g.152862598A>C | CA415285113 | NSDHL | c.417A>C (p.Lys139Asn) c.465A>C (p.Lys155Asn) | |
X | g.152862598A>G | CA519157326 | NSDHL | c.417A>G (p.Lys139=) c.465A>G (p.Lys155=) | gnomAD v4 |
X | g.152862598A>T | CA415285112 | NSDHL | c.417A>T (p.Lys139Asn) c.465A>T (p.Lys155Asn) | |
X | g.152862599C>A | CA415285116 | NSDHL | c.418C>A (p.Leu140Ile) c.466C>A (p.Leu156Ile) | |
X | g.152862599C= | CA2466152374 | NSDHL | c.418C= (p.Leu140=) c.466C= (p.Leu156=) | |
X | g.152862599C>G | CA415285114 | NSDHL | c.418C>G (p.Leu140Val) c.466C>G (p.Leu156Val) | dbSNP |
X | g.152862599C>T | CA415285115 | NSDHL | c.418C>T (p.Leu140Phe) c.466C>T (p.Leu156Phe) | |
X | g.152862600T>A | CA415285117 | NSDHL | c.419T>A (p.Leu140His) c.467T>A (p.Leu156His) | |
X | g.152862600T>C | CA415285118 | NSDHL | c.419T>C (p.Leu140Pro) c.467T>C (p.Leu156Pro) | |
X | g.152862600T>G | CA415285119 | NSDHL | c.419T>G (p.Leu140Arg) c.467T>G (p.Leu156Arg) | |
X | g.152862601C>A | CA519157327 | NSDHL | c.420C>A (p.Leu140=) c.468C>A (p.Leu156=) | |
X | g.152862601C>G | CA519157328 | NSDHL | c.420C>G (p.Leu140=) c.468C>G (p.Leu156=) | COSMIC |
X | g.152862601C>T | CA519157329 | NSDHL | c.420C>T (p.Leu140=) c.468C>T (p.Leu156=) | |
X | g.152862602A>C | CA415285120 | NSDHL | c.421A>C (p.Ile141Leu) c.469A>C (p.Ile157Leu) | |
X | g.152862602A>G | CA415285121 | NSDHL | c.421A>G (p.Ile141Val) c.469A>G (p.Ile157Val) | |
X | g.152862602A>T | CA415285122 | NSDHL | c.421A>T (p.Ile141Phe) c.469A>T (p.Ile157Phe) | |
X | g.152862603T>A | CA415285123 | NSDHL | c.422T>A (p.Ile141Asn) c.470T>A (p.Ile157Asn) | |
X | g.152862603T>C | CA415285124 | NSDHL | c.422T>C (p.Ile141Thr) c.470T>C (p.Ile157Thr) | |
X | g.152862603T>G | CA415285125 | NSDHL | c.422T>G (p.Ile141Ser) c.470T>G (p.Ile157Ser) | |
X | g.152862604T>A | CA519157332 | NSDHL | c.423T>A (p.Ile141=) c.471T>A (p.Ile157=) | |
X | g.152862604T>C | CA519157330 | NSDHL | c.423T>C (p.Ile141=) c.471T>C (p.Ile157=) | |
X | g.152862604T>G | CA415285126 | NSDHL | c.423T>G (p.Ile141Met) c.471T>G (p.Ile157Met) | |
X | g.152862605T>A | CA415285127 | NSDHL | c.424T>A (p.Leu142Ile) c.472T>A (p.Leu158Ile) | |
X | g.152862605T>C | CA519157333 | NSDHL | c.424T>C (p.Leu142=) c.472T>C (p.Leu158=) | |
X | g.152862605T>G | CA415285128 | NSDHL | c.424T>G (p.Leu142Val) c.472T>G (p.Leu158Val) | |
X | g.152862606T>A | CA415285129 | NSDHL | c.425T>A (p.Leu142Ter) c.473T>A (p.Leu158Ter) | |
X | g.152862606T>C | CA415285130 | NSDHL | c.425T>C (p.Leu142Ser) c.473T>C (p.Leu158Ser) | |
X | g.152862606T>G | CA415285131 | NSDHL | c.425T>G (p.Leu142Ter) c.473T>G (p.Leu158Ter) | |
X | g.152862607A>C | CA415285132 | NSDHL | c.426A>C (p.Leu142Phe) c.474A>C (p.Leu158Phe) | |
X | g.152862607A>G | CA519157334 | NSDHL | c.426A>G (p.Leu142=) c.474A>G (p.Leu158=) | |
X | g.152862607A>T | CA415285133 | NSDHL | c.426A>T (p.Leu142Phe) c.474A>T (p.Leu158Phe) | |
X | g.152862608A>C | CA415285134 | NSDHL | c.427A>C (p.Thr143Pro) c.475A>C (p.Thr159Pro) | |
X | g.152862608A>G | CA415285135 | NSDHL | c.427A>G (p.Thr143Ala) c.475A>G (p.Thr159Ala) | |
X | g.152862608A>T | CA415285136 | NSDHL | c.427A>T (p.Thr143Ser) c.475A>T (p.Thr159Ser) | |
X | g.152862609C>A | CA415285137 | NSDHL | c.428C>A (p.Thr143Asn) c.476C>A (p.Thr159Asn) | gnomAD v4 |
X | g.152862609C>G | CA415285138 | NSDHL | c.428C>G (p.Thr143Ser) c.476C>G (p.Thr159Ser) | |
X | g.152862609C>T | CA415285139 | NSDHL | c.428C>T (p.Thr143Ile) c.476C>T (p.Thr159Ile) | |
X | g.152862610C>A | CA519157335 | NSDHL | c.429C>A (p.Thr143=) c.477C>A (p.Thr159=) | |
X | g.152862610C= | CA2466152375 | NSDHL | c.429C= (p.Thr143=) c.477C= (p.Thr159=) | |
X | g.152862610C>G | CA519157337 | NSDHL | c.429C>G (p.Thr143=) c.477C>G (p.Thr159=) | |
X | g.152862610C>T | CA519157336 | NSDHL | c.429C>T (p.Thr143=) c.477C>T (p.Thr159=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.152862611A>C | CA415285142 | NSDHL | c.430A>C (p.Ser144Arg) c.478A>C (p.Ser160Arg) | |
X | g.152862611A>G | CA415285141 | NSDHL | c.430A>G (p.Ser144Gly) c.478A>G (p.Ser160Gly) | |
X | g.152862611A>T | CA415285140 | NSDHL | c.430A>T (p.Ser144Cys) c.478A>T (p.Ser160Cys) | |
X | g.152862612G>A | CA415285145 | NSDHL | c.431G>A (p.Ser144Asn) c.479G>A (p.Ser160Asn) | |
X | g.152862612G>C | CA415285143 | NSDHL | c.431G>C (p.Ser144Thr) c.479G>C (p.Ser160Thr) | |
X | g.152862612G>T | CA415285144 | NSDHL | c.431G>T (p.Ser144Ile) c.479G>T (p.Ser160Ile) | |
X | g.152862613C>A | CA415285146 | NSDHL | c.432C>A (p.Ser144Arg) c.480C>A (p.Ser160Arg) | |
X | g.152862613C>G | CA415285147 | NSDHL | c.432C>G (p.Ser144Arg) c.480C>G (p.Ser160Arg) | |
X | g.152862613C>T | CA519157338 | NSDHL | c.432C>T (p.Ser144=) c.480C>T (p.Ser160=) | |
X | g.152862614A>C | CA415285148 | NSDHL | c.433A>C (p.Ser145Arg) c.481A>C (p.Ser161Arg) | |
X | g.152862614A>G | CA415285149 | NSDHL | c.433A>G (p.Ser145Gly) c.481A>G (p.Ser161Gly) | |
X | g.152862614A>T | CA415285150 | NSDHL | c.433A>T (p.Ser145Cys) c.481A>T (p.Ser161Cys) | |
X | g.152862615G>A | CA415285151 | NSDHL | c.434G>A (p.Ser145Asn) c.482G>A (p.Ser161Asn) | |
X | g.152862615G>C | CA415285152 | NSDHL | c.434G>C (p.Ser145Thr) c.482G>C (p.Ser161Thr) | |
X | g.152862615G>T | CA415285153 | NSDHL | c.434G>T (p.Ser145Ile) c.482G>T (p.Ser161Ile) | |
X | g.152862616T>A | CA415285154 | NSDHL | c.435T>A (p.Ser145Arg) c.483T>A (p.Ser161Arg) | |
X | g.152862616T>C | CA519157339 | NSDHL | c.435T>C (p.Ser145=) c.483T>C (p.Ser161=) | |
X | g.152862616T>G | CA415285155 | NSDHL | c.435T>G (p.Ser145Arg) c.483T>G (p.Ser161Arg) | |
X | g.152862617G>A | CA415285157 | NSDHL | c.436G>A (p.Ala146Thr) c.484G>A (p.Ala162Thr) | dbSNP |
X | g.152862617G>C | CA415285156 | NSDHL | c.436G>C (p.Ala146Pro) c.484G>C (p.Ala162Pro) | |
X | g.152862617G= | CA2466152376 | NSDHL | c.436G= (p.Ala146=) c.484G= (p.Ala162=) | |
X | g.152862617G>T | CA10544771 | NSDHL | c.436G>T (p.Ala146Ser) c.484G>T (p.Ala162Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.152862618C>A | CA415285158 | NSDHL | c.437C>A (p.Ala146Asp) c.485C>A (p.Ala162Asp) | |
X | g.152862618C>G | CA415285159 | NSDHL | c.437C>G (p.Ala146Gly) c.485C>G (p.Ala162Gly) | |
X | g.152862618C>T | CA415285160 | NSDHL | c.437C>T (p.Ala146Val) c.485C>T (p.Ala162Val) | |
X | g.152862619C>A | CA519157341 | NSDHL | c.438C>A (p.Ala146=) c.486C>A (p.Ala162=) | |
X | g.152862619C>G | CA519157342 | NSDHL | c.438C>G (p.Ala146=) c.486C>G (p.Ala162=) | |
X | g.152862619C>T | CA519157343 | NSDHL | c.438C>T (p.Ala146=) c.486C>T (p.Ala162=) | gnomAD v4 |
X | g.152862620A= | CA2466152377 | NSDHL | c.439A= (p.Ser147=) c.487A= (p.Ser163=) | |
X | g.152862620A>C | CA415285161 | NSDHL | c.439A>C (p.Ser147Arg) c.487A>C (p.Ser163Arg) | |
X | g.152862620A>G | CA415285162 | NSDHL | c.439A>G (p.Ser147Gly) c.487A>G (p.Ser163Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.152862620A>T | CA415285163 | NSDHL | c.439A>T (p.Ser147Cys) c.487A>T (p.Ser163Cys) | |
X | g.152862621G>A | CA415285164 | NSDHL | c.440G>A (p.Ser147Asn) c.488G>A (p.Ser163Asn) | |
X | g.152862621G>C | CA415285165 | NSDHL | c.440G>C (p.Ser147Thr) c.488G>C (p.Ser163Thr) | |
X | g.152862621G>T | CA415285166 | NSDHL | c.440G>T (p.Ser147Ile) c.488G>T (p.Ser163Ile) | |
X | g.152862622T>A | CA415285167 | NSDHL | c.441T>A (p.Ser147Arg) c.489T>A (p.Ser163Arg) | |
X | g.152862622T>C | CA519157345 | NSDHL | c.441T>C (p.Ser147=) c.489T>C (p.Ser163=) | |
X | g.152862622T>G | CA415285168 | NSDHL | c.441T>G (p.Ser147Arg) c.489T>G (p.Ser163Arg) | |
X | g.152862623G>A | CA415285170 | NSDHL | c.442G>A (p.Val148Ile) c.490G>A (p.Val164Ile) | |
X | g.152862623G>C | CA415285171 | NSDHL | c.442G>C (p.Val148Leu) c.490G>C (p.Val164Leu) | |
X | g.152862623G>T | CA415285169 | NSDHL | c.442G>T (p.Val148Phe) c.490G>T (p.Val164Phe) | |
X | g.152862624T>A | CA415285172 | NSDHL | c.443T>A (p.Val148Asp) c.491T>A (p.Val164Asp) | |
X | g.152862624T>C | CA415285174 | NSDHL | c.443T>C (p.Val148Ala) c.491T>C (p.Val164Ala) | |
X | g.152862624T>G | CA415285173 | NSDHL | c.443T>G (p.Val148Gly) c.491T>G (p.Val164Gly) | |
X | g.152862625C>A | CA519157346 | NSDHL | c.444C>A (p.Val148=) c.492C>A (p.Val164=) | |
X | g.152862625C>G | CA519157347 | NSDHL | c.444C>G (p.Val148=) c.492C>G (p.Val164=) | |
X | g.152862625C>T | CA519157348 | NSDHL | c.444C>T (p.Val148=) c.492C>T (p.Val164=) | gnomAD v4 |
X | g.152862626A= | CA2466152378 | NSDHL | c.445A= (p.Ile149=) c.493A= (p.Ile165=) | |
X | g.152862626A>C | CA415285175 | NSDHL | c.445A>C (p.Ile149Leu) c.493A>C (p.Ile165Leu) | |
X | g.152862626A>G | CA10544772 | NSDHL | c.445A>G (p.Ile149Val) c.493A>G (p.Ile165Val) | dbSNP ExAC gnomAD v3 gnomAD v4 |
X | g.152862626A>T | CA415285176 | NSDHL | c.445A>T (p.Ile149Phe) c.493A>T (p.Ile165Phe) | |
X | g.152862627T>A | CA415285177 | NSDHL | c.446T>A (p.Ile149Asn) c.494T>A (p.Ile165Asn) | |
X | g.152862627T>C | CA415285178 | NSDHL | c.446T>C (p.Ile149Thr) c.494T>C (p.Ile165Thr) | |
X | g.152862627T>G | CA415285179 | NSDHL | c.446T>G (p.Ile149Ser) c.494T>G (p.Ile165Ser) | |
X | g.152862628C>A | CA519157349 | NSDHL | c.447C>A (p.Ile149=) c.495C>A (p.Ile165=) | COSMIC |
X | g.152862628C>G | CA415285180 | NSDHL | c.447C>G (p.Ile149Met) c.495C>G (p.Ile165Met) | |
X | g.152862628C>T | CA519157350 | NSDHL | c.447C>T (p.Ile149=) c.495C>T (p.Ile165=) | |
X | g.152862629T>A | CA415285181 | NSDHL | c.448T>A (p.Phe150Ile) c.496T>A (p.Phe166Ile) | |
X | g.152862629T>C | CA415285182 | NSDHL | c.448T>C (p.Phe150Leu) c.496T>C (p.Phe166Leu) | |
X | g.152862629T>G | CA415285183 | NSDHL | c.448T>G (p.Phe150Val) c.496T>G (p.Phe166Val) | |
X | g.152862630T>A | CA415285186 | NSDHL | c.449T>A (p.Phe150Tyr) c.497T>A (p.Phe166Tyr) | |
X | g.152862630T>C | CA415285185 | NSDHL | c.449T>C (p.Phe150Ser) c.497T>C (p.Phe166Ser) | |
X | g.152862630T>G | CA415285184 | NSDHL | c.449T>G (p.Phe150Cys) c.497T>G (p.Phe166Cys) | |
X | g.152862631T>A | CA415285187 | NSDHL | c.450T>A (p.Phe150Leu) c.498T>A (p.Phe166Leu) | |
X | g.152862631T>C | CA519157352 | NSDHL | c.450T>C (p.Phe150=) c.498T>C (p.Phe166=) | |
X | g.152862631T>G | CA415285188 | NSDHL | c.450T>G (p.Phe150Leu) c.498T>G (p.Phe166Leu) | |
X | g.152862631_152862632del | CA2579725464 | NSDHL | c.450_451del (p.Phe150LeufsTer10) c.498_499del (p.Phe166LeufsTer10) | |
X | g.152862632G>A | CA415285189 | NSDHL | c.451G>A (p.Glu151Lys) c.499G>A (p.Glu167Lys) | |
X | g.152862632G>C | CA415285190 | NSDHL | c.451G>C (p.Glu151Gln) c.499G>C (p.Glu167Gln) | |
X | g.152862632G= | CA2466152379 | NSDHL | c.451G= (p.Glu151=) c.499G= (p.Glu167=) | |
X | g.152862632G>T | CA255885 | NSDHL | c.451G>T (p.Glu151Ter) c.499G>T (p.Glu167Ter) | ClinVar dbSNP |
X | g.152862633A>C | CA415285191 | NSDHL | c.452A>C (p.Glu151Ala) c.500A>C (p.Glu167Ala) | |
X | g.152862633A>G | CA415285192 | NSDHL | c.452A>G (p.Glu151Gly) c.500A>G (p.Glu167Gly) | |
X | g.152862633A>T | CA415285193 | NSDHL | c.452A>T (p.Glu151Val) c.500A>T (p.Glu167Val) | |
X | g.152862634G>A | CA519157353 | NSDHL | c.453G>A (p.Glu151=) c.501G>A (p.Glu167=) | |
X | g.152862634G>C | CA415285194 | NSDHL | c.453G>C (p.Glu151Asp) c.501G>C (p.Glu167Asp) | |
X | g.152862634G>T | CA415285195 | NSDHL | c.453G>T (p.Glu151Asp) c.501G>T (p.Glu167Asp) | |
X | g.152862635G>A | CA415285198 | NSDHL | c.454G>A (p.Gly152Ser) c.502G>A (p.Gly168Ser) | |
X | g.152862635G>C | CA415285197 | NSDHL | c.454G>C (p.Gly152Arg) c.502G>C (p.Gly168Arg) | |
X | g.152862635G>T | CA415285196 | NSDHL | c.454G>T (p.Gly152Cys) c.502G>T (p.Gly168Cys) | |
X | g.152862636G>A | CA415285199 | NSDHL | c.455G>A (p.Gly152Asp) c.503G>A (p.Gly168Asp) | ClinVar |
X | g.152862636G>C | CA415285200 | NSDHL | c.455G>C (p.Gly152Ala) c.503G>C (p.Gly168Ala) | |
X | g.152862636G>T | CA415285201 | NSDHL | c.455G>T (p.Gly152Val) c.503G>T (p.Gly168Val) | |
X | g.152862637C>A | CA519157354 | NSDHL | c.456C>A (p.Gly152=) c.504C>A (p.Gly168=) | gnomAD v4 |
X | g.152862637C= | CA2466152380 | NSDHL | c.456C= (p.Gly152=) c.504C= (p.Gly168=) | |
X | g.152862637C>G | CA519157355 | NSDHL | c.456C>G (p.Gly152=) c.504C>G (p.Gly168=) | |
X | g.152862637C>T | CA337612331 | NSDHL | c.456C>T (p.Gly152=) c.504C>T (p.Gly168=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.152862638G>A | CA415285202 | NSDHL | c.457G>A (p.Val153Ile) c.505G>A (p.Val169Ile) | dbSNP COSMIC |
X | g.152862638G>C | CA415285203 | NSDHL | c.457G>C (p.Val153Leu) c.505G>C (p.Val169Leu) | |
X | g.152862638G= | CA2466152381 | NSDHL | c.457G= (p.Val153=) c.505G= (p.Val169=) | |
X | g.152862638G>T | CA415285204 | NSDHL | c.457G>T (p.Val153Phe) c.505G>T (p.Val169Phe) | |
X | g.152862639T>A | CA415285205 | NSDHL | c.458T>A (p.Val153Asp) c.506T>A (p.Val169Asp) | |
X | g.152862639T>C | CA415285206 | NSDHL | c.458T>C (p.Val153Ala) c.506T>C (p.Val169Ala) | |
X | g.152862639T>G | CA415285207 | NSDHL | c.458T>G (p.Val153Gly) c.506T>G (p.Val169Gly) | |
X | g.152862640C>A | CA519157356 | NSDHL | c.459C>A (p.Val153=) c.507C>A (p.Val169=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.152862640C= | CA2466152382 | NSDHL | c.459C= (p.Val153=) c.507C= (p.Val169=) | |
X | g.152862640C>G | CA519157357 | NSDHL | c.459C>G (p.Val153=) c.507C>G (p.Val169=) | |
X | g.152862640C>T | CA10544773 | NSDHL | c.459C>T (p.Val153=) c.507C>T (p.Val169=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.152862641G>A | CA415285210 | NSDHL | c.460G>A (p.Asp154Asn) c.508G>A (p.Asp170Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.152862641G>C | CA415285209 | NSDHL | c.460G>C (p.Asp154His) c.508G>C (p.Asp170His) | |
X | g.152862641G= | CA2466152383 | NSDHL | c.460G= (p.Asp154=) c.508G= (p.Asp170=) | |
X | g.152862641G>T | CA415285208 | NSDHL | c.460G>T (p.Asp154Tyr) c.508G>T (p.Asp170Tyr) | |
X | g.152862642A>C | CA415285211 | NSDHL | c.461A>C (p.Asp154Ala) c.509A>C (p.Asp170Ala) | |
X | g.152862642A>G | CA415285212 | NSDHL | c.461A>G (p.Asp154Gly) c.509A>G (p.Asp170Gly) | gnomAD v4 |
X | g.152862642A>T | CA415285213 | NSDHL | c.461A>T (p.Asp154Val) c.509A>T (p.Asp170Val) | |
X | g.152862643T>A | CA415285214 | NSDHL | c.462T>A (p.Asp154Glu) c.510T>A (p.Asp170Glu) | |
X | g.152862643T>C | CA519157358 | NSDHL | c.462T>C (p.Asp154=) c.510T>C (p.Asp170=) | |
X | g.152862643T>G | CA415285215 | NSDHL | c.462T>G (p.Asp154Glu) c.510T>G (p.Asp170Glu) | |
X | g.152862644A= | CA2466152384 | NSDHL | c.463A= (p.Ile155=) c.511A= (p.Ile171=) | |
X | g.152862644A>C | CA415285216 | NSDHL | c.463A>C (p.Ile155Leu) c.511A>C (p.Ile171Leu) | |
X | g.152862644A>G | CA415285217 | NSDHL | c.463A>G (p.Ile155Val) c.511A>G (p.Ile171Val) | dbSNP |
X | g.152862644A>T | CA415285218 | NSDHL | c.463A>T (p.Ile155Phe) c.511A>T (p.Ile171Phe) | |
X | g.152862645T>A | CA415285219 | NSDHL | c.464T>A (p.Ile155Asn) c.512T>A (p.Ile171Asn) | |
X | g.152862645T>C | CA415285220 | NSDHL | c.464T>C (p.Ile155Thr) c.512T>C (p.Ile171Thr) | |
X | g.152862645T>G | CA415285221 | NSDHL | c.464T>G (p.Ile155Ser) c.512T>G (p.Ile171Ser) | |
X | g.152862646C>A | CA519157361 | NSDHL | c.465C>A (p.Ile155=) c.513C>A (p.Ile171=) | |
X | g.152862646C>G | CA415285222 | NSDHL | c.465C>G (p.Ile155Met) c.513C>G (p.Ile171Met) | |
X | g.152862646C>T | CA519157363 | NSDHL | c.465C>T (p.Ile155=) c.513C>T (p.Ile171=) | |
X | g.152862647A>C | CA415285224 | NSDHL | c.466A>C (p.Lys156Gln) c.514A>C (p.Lys172Gln) | |
X | g.152862647A>G | CA415285225 | NSDHL | c.466A>G (p.Lys156Glu) c.514A>G (p.Lys172Glu) | gnomAD v4 |
X | g.152862647A>T | CA415285223 | NSDHL | c.466A>T (p.Lys156Ter) c.514A>T (p.Lys172Ter) | |
X | g.152862648A>C | CA415285228 | NSDHL | c.467A>C (p.Lys156Thr) c.515A>C (p.Lys172Thr) | |
X | g.152862648A>G | CA415285226 | NSDHL | c.467A>G (p.Lys156Arg) c.515A>G (p.Lys172Arg) | dbSNP |
X | g.152862648A>T | CA415285227 | NSDHL | c.467A>T (p.Lys156Met) c.515A>T (p.Lys172Met) | |
X | g.152862649G>A | CA519157364 | NSDHL | c.468G>A (p.Lys156=) c.516G>A (p.Lys172=) | |
X | g.152862649G>C | CA415285229 | NSDHL | c.468G>C (p.Lys156Asn) c.516G>C (p.Lys172Asn) | |
X | g.152862649G>T | CA415285230 | NSDHL | c.468G>T (p.Lys156Asn) c.516G>T (p.Lys172Asn) | |
X | g.152862650A>C | CA415285231 | NSDHL | c.469A>C (p.Asn157His) c.517A>C (p.Asn173His) | |
X | g.152862650A>G | CA415285232 | NSDHL | c.469A>G (p.Asn157Asp) c.517A>G (p.Asn173Asp) | |
X | g.152862650A>T | CA415285233 | NSDHL | c.469A>T (p.Asn157Tyr) c.517A>T (p.Asn173Tyr) | |
X | g.152862651A>C | CA415285234 | NSDHL | c.470A>C (p.Asn157Thr) c.518A>C (p.Asn173Thr) | |
X | g.152862651A>G | CA415285235 | NSDHL | c.470A>G (p.Asn157Ser) c.518A>G (p.Asn173Ser) | |
X | g.152862651A>T | CA415285236 | NSDHL | c.470A>T (p.Asn157Ile) c.518A>T (p.Asn173Ile) | |
X | g.152862652T>A | CA415285237 | NSDHL | c.471T>A (p.Asn157Lys) c.519T>A (p.Asn173Lys) | |
X | g.152862652T>C | CA519157365 | NSDHL | c.471T>C (p.Asn157=) c.519T>C (p.Asn173=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.152862652T>G | CA415285238 | NSDHL | c.471T>G (p.Asn157Lys) c.519T>G (p.Asn173Lys) | |
X | g.152862652T= | CA2466152385 | NSDHL | c.471T= (p.Asn157=) c.519T= (p.Asn173=) | |
X | g.152862653G>A | CA415285241 | NSDHL | c.472G>A (p.Gly158Arg) c.520G>A (p.Gly174Arg) | |
X | g.152862653G>C | CA415285240 | NSDHL | c.472G>C (p.Gly158Arg) c.520G>C (p.Gly174Arg) | |
X | g.152862653G>T | CA415285239 | NSDHL | c.472G>T (p.Gly158Ter) c.520G>T (p.Gly174Ter) | |
X | g.152862654G>A | CA415285242 | NSDHL | c.473G>A (p.Gly158Glu) c.521G>A (p.Gly174Glu) | |
X | g.152862654G>C | CA415285243 | NSDHL | c.473G>C (p.Gly158Ala) c.521G>C (p.Gly174Ala) | |
X | g.152862654G>T | CA415285244 | NSDHL | c.473G>T (p.Gly158Val) c.521G>T (p.Gly174Val) | |
X | g.152862655A>C | CA519157366 | NSDHL | c.474A>C (p.Gly158=) c.522A>C (p.Gly174=) | |
X | g.152862655A>G | CA519157368 | NSDHL | c.474A>G (p.Gly158=) c.522A>G (p.Gly174=) | |
X | g.152862655A>T | CA519157367 | NSDHL | c.474A>T (p.Gly158=) c.522A>T (p.Gly174=) | |
X | g.152862656A>C | CA415285245 | NSDHL | c.475A>C (p.Thr159Pro) c.523A>C (p.Thr175Pro) | |
X | g.152862656A>G | CA415285246 | NSDHL | c.475A>G (p.Thr159Ala) c.523A>G (p.Thr175Ala) | |
X | g.152862656A>T | CA415285247 | NSDHL | c.475A>T (p.Thr159Ser) c.523A>T (p.Thr175Ser) | |
X | g.152862657C>A | CA415285248 | NSDHL | c.476C>A (p.Thr159Asn) c.524C>A (p.Thr175Asn) | |
X | g.152862657C>G | CA415285249 | NSDHL | c.476C>G (p.Thr159Ser) c.524C>G (p.Thr175Ser) | |
X | g.152862657C>T | CA415285250 | NSDHL | c.476C>T (p.Thr159Ile) c.524C>T (p.Thr175Ile) | |
X | g.152862658T>A | CA519157369 | NSDHL | c.477T>A (p.Thr159=) c.525T>A (p.Thr175=) | |
X | g.152862658T>C | CA519157370 | NSDHL | c.477T>C (p.Thr159=) c.525T>C (p.Thr175=) | |
X | g.152862658T>G | CA519157371 | NSDHL | c.477T>G (p.Thr159=) c.525T>G (p.Thr175=) | |
X | g.152862659G>A | CA415285251 | NSDHL | c.478G>A (p.Glu160Lys) c.526G>A (p.Glu176Lys) | |
X | g.152862659G>C | CA415285252 | NSDHL | c.478G>C (p.Glu160Gln) c.526G>C (p.Glu176Gln) | |
X | g.152862659G>T | CA415285253 | NSDHL | c.478G>T (p.Glu160Ter) c.526G>T (p.Glu176Ter) | |
X | g.152862660A= | CA2466152386 | NSDHL | c.479A= (p.Glu160=) c.527A= (p.Glu176=) | |
X | g.152862660A>C | CA415285254 | NSDHL | c.479A>C (p.Glu160Ala) c.527A>C (p.Glu176Ala) | |
X | g.152862660A>G | CA337612333 | NSDHL | c.479A>G (p.Glu160Gly) c.527A>G (p.Glu176Gly) | dbSNP |
X | g.152862660A>T | CA415285255 | NSDHL | c.479A>T (p.Glu160Val) c.527A>T (p.Glu176Val) | |
X | g.152862661A>C | CA415285256 | NSDHL | c.480A>C (p.Glu160Asp) c.528A>C (p.Glu176Asp) | |
X | g.152862661A>G | CA519157372 | NSDHL | c.480A>G (p.Glu160=) c.528A>G (p.Glu176=) | |
X | g.152862661A>T | CA415285257 | NSDHL | c.480A>T (p.Glu160Asp) c.528A>T (p.Glu176Asp) | |
X | g.152862662G>A | CA415285258 | NSDHL | c.481G>A (p.Asp161Asn) c.529G>A (p.Asp177Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.152862662G>C | CA415285259 | NSDHL | c.481G>C (p.Asp161His) c.529G>C (p.Asp177His) | |
X | g.152862662G= | CA2466152387 | NSDHL | c.481G= (p.Asp161=) c.529G= (p.Asp177=) | |
X | g.152862662G>T | CA415285260 | NSDHL | c.481G>T (p.Asp161Tyr) c.529G>T (p.Asp177Tyr) | COSMIC |