Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.152862531G>A | CA2694983073 | NSDHL | c.415-65G>A (n.415-65G>A) c.463-65G>A (n.463-65G>A) | gnomAD v4 |
X | g.152862531G>T | CA2694983074 | NSDHL | c.415-65G>T (n.415-65G>T) c.463-65G>T (n.463-65G>T) | gnomAD v4 |
X | g.152862532G= | CA2466152356 | NSDHL | c.415-64G= (n.415-64G=) c.463-64G= (n.463-64G=) | |
X | g.152862532G>T | CA337612309 | NSDHL | c.415-64G>T (n.415-64G>T) c.463-64G>T (n.463-64G>T) | dbSNP gnomAD v4 |
X | g.152862533A= | CA2466152357 | NSDHL | c.415-63A= (n.415-63A=) c.463-63A= (n.463-63A=) | |
X | g.152862533A>G | CA645215039 | NSDHL | c.415-63A>G (n.415-63A>G) c.463-63A>G (n.463-63A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.152862534T>C | CA2840484206 | NSDHL | c.415-62T>C (n.415-62T>C) c.463-62T>C (n.463-62T>C) | |
X | g.152862535C>A | CA2579725456 | NSDHL | c.415-61C>A (n.415-61C>A) c.463-61C>A (n.463-61C>A) | gnomAD v4 |
X | g.152862535C>T | CA2694983075 | NSDHL | c.415-61C>T (n.415-61C>T) c.463-61C>T (n.463-61C>T) | gnomAD v4 |
X | g.152862536A= | CA2466152358 | NSDHL | c.415-60A= (n.415-60A=) c.463-60A= (n.463-60A=) | |
X | g.152862536A>G | CA873241356 | NSDHL | c.415-60A>G (n.415-60A>G) c.463-60A>G (n.463-60A>G) | dbSNP |
X | g.152862537T>C | CA2694983076 | NSDHL | c.415-59T>C (n.415-59T>C) c.463-59T>C (n.463-59T>C) | gnomAD v4 |
X | g.152862537T>G | CA2466152360 | NSDHL | c.415-59T>G (n.415-59T>G) c.463-59T>G (n.463-59T>G) | dbSNP |
X | g.152862537T= | CA2466152359 | NSDHL | c.415-59T= (n.415-59T=) c.463-59T= (n.463-59T=) | |
X | g.152862538G>A | CA2694983078 | NSDHL | c.415-58G>A (n.415-58G>A) c.463-58G>A (n.463-58G>A) | gnomAD v4 |
X | g.152862538G>T | CA2694983077 | NSDHL | c.415-58G>T (n.415-58G>T) c.463-58G>T (n.463-58G>T) | gnomAD v4 |
X | g.152862539C>A | CA2579725457 | NSDHL | c.415-57C>A (n.415-57C>A) c.463-57C>A (n.463-57C>A) | gnomAD v4 |
X | g.152862539C>T | CA2694983079 | NSDHL | c.415-57C>T (n.415-57C>T) c.463-57C>T (n.463-57C>T) | gnomAD v4 |
X | g.152862540A>G | CA2838268147 | NSDHL | c.415-56A>G (n.415-56A>G) c.463-56A>G (n.463-56A>G) | |
X | g.152862541C>A | CA2694983080 | NSDHL | c.415-55C>A (n.415-55C>A) c.463-55C>A (n.463-55C>A) | gnomAD v4 |
X | g.152862541C>T | CA2694983081 | NSDHL | c.415-55C>T (n.415-55C>T) c.463-55C>T (n.463-55C>T) | gnomAD v4 |
X | g.152862543G>A | CA337612312 | NSDHL | c.415-53G>A (n.415-53G>A) c.463-53G>A (n.463-53G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.152862543G= | CA2466152361 | NSDHL | c.415-53G= (n.415-53G=) c.463-53G= (n.463-53G=) | |
X | g.152862544T>C | CA2694983082 | NSDHL | c.415-52T>C (n.415-52T>C) c.463-52T>C (n.463-52T>C) | gnomAD v4 |
X | g.152862544T>G | CA2694983083 | NSDHL | c.415-52T>G (n.415-52T>G) c.463-52T>G (n.463-52T>G) | gnomAD v4 |
X | g.152862545T>A | CA2579725458 | NSDHL | c.415-51T>A (n.415-51T>A) c.463-51T>A (n.463-51T>A) | |
X | g.152862546T>C | CA2694983084 | NSDHL | c.415-50T>C (n.415-50T>C) c.463-50T>C (n.463-50T>C) | gnomAD v4 |
X | g.152862547G>T | CA2694983085 | NSDHL | c.415-49G>T (n.415-49G>T) c.463-49G>T (n.463-49G>T) | gnomAD v4 |
X | g.152862548A>G | CA2694983086 | NSDHL | c.415-48A>G (n.415-48A>G) c.463-48A>G (n.463-48A>G) | gnomAD v4 |
X | g.152862550T>C | CA2694983087 | NSDHL | c.415-46T>C (n.415-46T>C) c.463-46T>C (n.463-46T>C) | gnomAD v4 |
X | g.152862551T>C | CA2694983088 | NSDHL | c.415-45T>C (n.415-45T>C) c.463-45T>C (n.463-45T>C) | gnomAD v4 |
X | g.152862552G>A | CA10544766 | NSDHL | c.415-44G>A (n.415-44G>A) c.463-44G>A (n.463-44G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.152862552G= | CA2466152362 | NSDHL | c.415-44G= (n.415-44G=) c.463-44G= (n.463-44G=) | |
X | g.152862552G>T | CA2840484207 | NSDHL | c.415-44G>T (n.415-44G>T) c.463-44G>T (n.463-44G>T) | |
X | g.152862553T>C | CA2694983089 | NSDHL | c.415-43T>C (n.415-43T>C) c.463-43T>C (n.463-43T>C) | gnomAD v4 |
X | g.152862554G>A | CA2694983090 | NSDHL | c.415-42G>A (n.415-42G>A) c.463-42G>A (n.463-42G>A) | gnomAD v4 |
X | g.152862556del | CA2839367232 | NSDHL | c.415-40del (n.415-40del) c.463-40del (n.463-40del) | |
X | g.152862556T>C | CA10544767 | NSDHL | c.415-40T>C (n.415-40T>C) c.463-40T>C (n.463-40T>C) | dbSNP ExAC |
X | g.152862556T= | CA2466152363 | NSDHL | c.415-40T= (n.415-40T=) c.463-40T= (n.463-40T=) | |
X | g.152862558del | CA2579725459 | NSDHL | c.415-38del (n.415-38del) c.463-38del (n.463-38del) | |
X | g.152862558A>G | CA2694983091 | NSDHL | c.415-38A>G (n.415-38A>G) c.463-38A>G (n.463-38A>G) | gnomAD v4 |
X | g.152862558A>T | CA2694983092 | NSDHL | c.415-38A>T (n.415-38A>T) c.463-38A>T (n.463-38A>T) | gnomAD v4 |
X | g.152862560T>C | CA645215042 | NSDHL | c.415-36T>C (n.415-36T>C) c.463-36T>C (n.463-36T>C) | dbSNP gnomAD v2 gnomAD v4 |
X | g.152862560T= | CA2466152364 | NSDHL | c.415-36T= (n.415-36T=) c.463-36T= (n.463-36T=) | |
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) |