Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.152867506dup | CA2840484240 | NSDHL | c.687-65dup (n.687-65dup) c.735-65dup (n.735-65dup) | |
X | g.152867506G= | CA2466153869 | NSDHL | c.687-65G= (n.687-65G=) c.735-65G= (n.735-65G=) | |
X | g.152867506G>T | CA2466153870 | NSDHL | c.687-65G>T (n.687-65G>T) c.735-65G>T (n.735-65G>T) | dbSNP |
X | g.152867507A= | CA2466153871 | NSDHL | c.687-64A= (n.687-64A=) c.735-64A= (n.735-64A=) | |
X | g.152867507A>T | CA2466153872 | NSDHL | c.687-64A>T (n.687-64A>T) c.735-64A>T (n.735-64A>T) | dbSNP |
X | g.152867508G>C | CA873243351 | NSDHL | c.687-63G>C (n.687-63G>C) c.735-63G>C (n.735-63G>C) | dbSNP gnomAD v4 |
X | g.152867508G= | CA2466153873 | NSDHL | c.687-63G= (n.687-63G=) c.735-63G= (n.735-63G=) | |
X | g.152867509T>C | CA2579725514 | NSDHL | c.687-62T>C (n.687-62T>C) c.735-62T>C (n.735-62T>C) | gnomAD v4 |
X | g.152867509T>G | CA2824219981 | NSDHL | c.687-62T>G (n.687-62T>G) c.735-62T>G (n.735-62T>G) | |
X | g.152867510G>T | CA2579725515 | NSDHL | c.687-61G>T (n.687-61G>T) c.735-61G>T (n.735-61G>T) | |
X | g.152867511del | CA2838268143 | NSDHL | c.687-60del (n.687-60del) c.735-60del (n.735-60del) | |
X | g.152867511G>A | CA2838861339 | NSDHL | c.687-60G>A (n.687-60G>A) c.735-60G>A (n.735-60G>A) | |
X | g.152867511G= | CA2466153874 | NSDHL | c.687-60G= (n.687-60G=) c.735-60G= (n.735-60G=) | |
X | g.152867511G>T | CA2466153875 | NSDHL | c.687-60G>T (n.687-60G>T) c.735-60G>T (n.735-60G>T) | dbSNP gnomAD v4 |
X | g.152867512C>A | CA2694983339 | NSDHL | c.687-59C>A (n.687-59C>A) c.735-59C>A (n.735-59C>A) | gnomAD v4 |
X | g.152867512C>T | CA2694983340 | NSDHL | c.687-59C>T (n.687-59C>T) c.735-59C>T (n.735-59C>T) | gnomAD v4 |
X | g.152867513C>A | CA2694983341 | NSDHL | c.687-58C>A (n.687-58C>A) c.735-58C>A (n.735-58C>A) | gnomAD v4 |
X | g.152867515T>A | CA2466153877 | NSDHL | c.687-56T>A (n.687-56T>A) c.735-56T>A (n.735-56T>A) | dbSNP gnomAD v4 |
X | g.152867515T= | CA2466153876 | NSDHL | c.687-56T= (n.687-56T=) c.735-56T= (n.735-56T=) | |
X | g.152867516G>C | CA2579725516 | NSDHL | c.687-55G>C (n.687-55G>C) c.735-55G>C (n.735-55G>C) | |
X | g.152867517del | CA2694983342 | NSDHL | c.687-54del (n.687-54del) c.735-54del (n.735-54del) | gnomAD v4 |
X | g.152867517G>T | CA2840011208 | NSDHL | c.687-54G>T (n.687-54G>T) c.735-54G>T (n.735-54G>T) | |
X | g.152867518C>A | CA2694983343 | NSDHL | c.687-53C>A (n.687-53C>A) c.735-53C>A (n.735-53C>A) | gnomAD v4 |
X | g.152867518C= | CA2466153878 | NSDHL | c.687-53C= (n.687-53C=) c.735-53C= (n.735-53C=) | |
X | g.152867518C>T | CA2466153879 | NSDHL | c.687-53C>T (n.687-53C>T) c.735-53C>T (n.735-53C>T) | dbSNP |
X | g.152867519C>A | CA2694983344 | NSDHL | c.687-52C>A (n.687-52C>A) c.735-52C>A (n.735-52C>A) | gnomAD v4 |
X | g.152867519C= | CA2466153880 | NSDHL | c.687-52C= (n.687-52C=) c.735-52C= (n.735-52C=) | |
X | g.152867519C>T | CA873243362 | NSDHL | c.687-52C>T (n.687-52C>T) c.735-52C>T (n.735-52C>T) | dbSNP gnomAD v3 gnomAD v4 |
X | g.152867521T>C | CA2694983345 | NSDHL | c.687-50T>C (n.687-50T>C) c.735-50T>C (n.735-50T>C) | gnomAD v4 |
X | g.152867522C>A | CA2694983346 | NSDHL | c.687-49C>A (n.687-49C>A) c.735-49C>A (n.735-49C>A) | gnomAD v4 |
X | g.152867522C= | CA2466153881 | NSDHL | c.687-49C= (n.687-49C=) c.735-49C= (n.735-49C=) | |
X | g.152867522C>T | CA10544817 | NSDHL | c.687-49C>T (n.687-49C>T) c.735-49C>T (n.735-49C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.152867523G>A | CA10544818 | NSDHL | c.687-48G>A (n.687-48G>A) c.735-48G>A (n.735-48G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.152867523G= | CA2466153882 | NSDHL | c.687-48G= (n.687-48G=) c.735-48G= (n.735-48G=) | |
X | g.152867523G>T | CA2466153883 | NSDHL | c.687-48G>T (n.687-48G>T) c.735-48G>T (n.735-48G>T) | dbSNP gnomAD v4 |
X | g.152867525G>T | CA2694983347 | NSDHL | c.687-46G>T (n.687-46G>T) c.735-46G>T (n.735-46G>T) | gnomAD v4 |
X | g.152867526C>A | CA2694983348 | NSDHL | c.687-45C>A (n.687-45C>A) c.735-45C>A (n.735-45C>A) | gnomAD v4 |
X | g.152867526C>T | CA2840484242 | NSDHL | c.687-45C>T (n.687-45C>T) c.735-45C>T (n.735-45C>T) | |
X | g.152867527A= | CA2466153884 | NSDHL | c.687-44A= (n.687-44A=) c.735-44A= (n.735-44A=) | |
X | g.152867527A>G | CA2466153885 | NSDHL | c.687-44A>G (n.687-44A>G) c.735-44A>G (n.735-44A>G) | dbSNP |
X | g.152867527A>T | CA2694983349 | NSDHL | c.687-44A>T (n.687-44A>T) c.735-44A>T (n.735-44A>T) | gnomAD v4 |
X | g.152867528G>T | CA2694983350 | NSDHL | c.687-43G>T (n.687-43G>T) c.735-43G>T (n.735-43G>T) | gnomAD v4 |
X | g.152867531del | CA2840484243 | NSDHL | c.687-40del (n.687-40del) c.735-40del (n.735-40del) | |
X | g.152867529G>A | CA2694983351 | NSDHL | c.687-42G>A (n.687-42G>A) c.735-42G>A (n.735-42G>A) | gnomAD v4 |
X | g.152867529G>T | CA2838861345 | NSDHL | c.687-42G>T (n.687-42G>T) c.735-42G>T (n.735-42G>T) | |
X | g.152867530G>A | CA2579725517 | NSDHL | c.687-41G>A (n.687-41G>A) c.735-41G>A (n.735-41G>A) | |
X | g.152867531G>T | CA2840484244 | NSDHL | c.687-40G>T (n.687-40G>T) c.735-40G>T (n.735-40G>T) | |
X | g.152867532C>A | CA2579725518 | NSDHL | c.687-39C>A (n.687-39C>A) c.735-39C>A (n.735-39C>A) | |
X | g.152867534C>A | CA2694983352 | NSDHL | c.687-37C>A (n.687-37C>A) c.735-37C>A (n.735-37C>A) | gnomAD v4 |
X | g.152867536del | CA2840484245 | NSDHL | c.687-35del (n.687-35del) c.735-35del (n.735-35del) | |
X | g.152867535C= | CA2466153886 | NSDHL | c.687-36C= (n.687-36C=) c.735-36C= (n.735-36C=) | |
X | g.152867535C>T | CA645215693 | NSDHL | c.687-36C>T (n.687-36C>T) c.735-36C>T (n.735-36C>T) | dbSNP gnomAD v2 |
X | g.152867536C>A | CA2694983353 | NSDHL | c.687-35C>A (n.687-35C>A) c.735-35C>A (n.735-35C>A) | gnomAD v4 |
X | g.152867537A>T | CA2579725519 | NSDHL | c.687-34A>T (n.687-34A>T) c.735-34A>T (n.735-34A>T) | |
X | g.152867538G>A | CA873243365 | NSDHL | c.687-33G>A (n.687-33G>A) c.735-33G>A (n.735-33G>A) | dbSNP gnomAD v3 gnomAD v4 |
X | g.152867538G= | CA2466153887 | NSDHL | c.687-33G= (n.687-33G=) c.735-33G= (n.735-33G=) | |
X | g.152867538G>T | CA2840484246 | NSDHL | c.687-33G>T (n.687-33G>T) c.735-33G>T (n.735-33G>T) | |
X | g.152867539C>A | CA2694983354 | NSDHL | c.687-32C>A (n.687-32C>A) c.735-32C>A (n.735-32C>A) | gnomAD v4 |
X | g.152867539C>T | CA2840484247 | NSDHL | c.687-32C>T (n.687-32C>T) c.735-32C>T (n.735-32C>T) | |
X | g.152867540A>G | CA2838268149 | NSDHL | c.687-31A>G (n.687-31A>G) c.735-31A>G (n.735-31A>G) | |
X | g.152867541C>A | CA645215694 | NSDHL | c.687-30C>A (n.687-30C>A) c.735-30C>A (n.735-30C>A) | dbSNP gnomAD v2 gnomAD v4 |
X | g.152867541C= | CA2466153888 | NSDHL | c.687-30C= (n.687-30C=) c.735-30C= (n.735-30C=) | |
X | g.152867541C>G | CA2694983355 | NSDHL | c.687-30C>G (n.687-30C>G) c.735-30C>G (n.735-30C>G) | gnomAD v4 |
X | g.152867541C>T | CA10544819 | NSDHL | c.687-30C>T (n.687-30C>T) c.735-30C>T (n.735-30C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.152867542G>A | CA10544820 | NSDHL | c.687-29G>A (n.687-29G>A) c.735-29G>A (n.735-29G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.152867542G= | CA2466153889 | NSDHL | c.687-29G= (n.687-29G=) c.735-29G= (n.735-29G=) | |
X | g.152867542G>T | CA2838861349 | NSDHL | c.687-29G>T (n.687-29G>T) c.735-29G>T (n.735-29G>T) | |
X | g.152867544A>C | CA2694983356 | NSDHL | c.687-27A>C (n.687-27A>C) c.735-27A>C (n.735-27A>C) | gnomAD v4 |
X | g.152867544A>T | CA2694983357 | NSDHL | c.687-27A>T (n.687-27A>T) c.735-27A>T (n.735-27A>T) | gnomAD v4 |
X | g.152867545T>C | CA645215696 | NSDHL | c.687-26T>C (n.687-26T>C) c.735-26T>C (n.735-26T>C) | dbSNP gnomAD v2 gnomAD v4 |
X | g.152867545T= | CA2466153890 | NSDHL | c.687-26T= (n.687-26T=) c.735-26T= (n.735-26T=) | |
X | g.152867546T>A | CA2694983358 | NSDHL | c.687-25T>A (n.687-25T>A) c.735-25T>A (n.735-25T>A) | gnomAD v4 |
X | g.152867547C>A | CA2694983359 | NSDHL | c.687-24C>A (n.687-24C>A) c.735-24C>A (n.735-24C>A) | gnomAD v4 |
X | g.152867547C= | CA2466153891 | NSDHL | c.687-24C= (n.687-24C=) c.735-24C= (n.735-24C=) | |
X | g.152867547C>G | CA1138499124 | NSDHL | c.687-24C>G (n.687-24C>G) c.735-24C>G (n.735-24C>G) | dbSNP gnomAD v3 gnomAD v4 |
X | g.152867548C>A | CA2694983360 | NSDHL | c.687-23C>A (n.687-23C>A) c.735-23C>A (n.735-23C>A) | gnomAD v4 |
X | g.152867548C>T | CA2694983361 | NSDHL | c.687-23C>T (n.687-23C>T) c.735-23C>T (n.735-23C>T) | gnomAD v4 |
X | g.152867549A>G | CA2579725520 | NSDHL | c.687-22A>G (n.687-22A>G) c.735-22A>G (n.735-22A>G) | gnomAD v4 |
X | g.152867550T>A | CA2694983362 | NSDHL | c.687-21T>A (n.687-21T>A) c.735-21T>A (n.735-21T>A) | gnomAD v4 |
X | g.152867550T>C | CA2694983363 | NSDHL | c.687-21T>C (n.687-21T>C) c.735-21T>C (n.735-21T>C) | gnomAD v4 |
X | g.152867551C>A | CA2694983364 | NSDHL | c.687-20C>A (n.687-20C>A) c.735-20C>A (n.735-20C>A) | gnomAD v4 |
X | g.152867554C>A | CA2694983365 | NSDHL | c.687-17C>A (n.687-17C>A) c.735-17C>A (n.735-17C>A) | gnomAD v4 |
X | g.152867554C>T | CA2694983366 | NSDHL | c.687-17C>T (n.687-17C>T) c.735-17C>T (n.735-17C>T) | gnomAD v4 |
X | g.152867555C>A | CA2694983367 | NSDHL | c.687-16C>A (n.687-16C>A) c.735-16C>A (n.735-16C>A) | gnomAD v4 |
X | g.152867555C= | CA2466153892 | NSDHL | c.687-16C= (n.687-16C=) c.735-16C= (n.735-16C=) | |
X | g.152867555C>T | CA10544821 | NSDHL | c.687-16C>T (n.687-16C>T) c.735-16C>T (n.735-16C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.152867556C>A | CA2694983368 | NSDHL | c.687-15C>A (n.687-15C>A) c.735-15C>A (n.735-15C>A) | gnomAD v4 |
X | g.152867556C= | CA2466153893 | NSDHL | c.687-15C= (n.687-15C=) c.735-15C= (n.735-15C=) | |
X | g.152867556C>G | CA10544822 | NSDHL | c.687-15C>G (n.687-15C>G) c.735-15C>G (n.735-15C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.152867556C>T | CA2838861334 | NSDHL | c.687-15C>T (n.687-15C>T) c.735-15C>T (n.735-15C>T) | |
X | g.152867557T>C | CA2694983369 | NSDHL | c.687-14T>C (n.687-14T>C) c.735-14T>C (n.735-14T>C) | gnomAD v4 |
X | g.152867559G>A | CA2839367227 | NSDHL | c.687-12G>A (n.687-12G>A) c.735-12G>A (n.735-12G>A) | |
X | g.152867560T>C | CA2579725521 | NSDHL | c.687-11T>C (n.687-11T>C) c.735-11T>C (n.735-11T>C) | gnomAD v4 |
X | g.152867561G>A | CA2694983370 | NSDHL | c.687-10G>A (n.687-10G>A) c.735-10G>A (n.735-10G>A) | gnomAD v4 |
X | g.152867562C>A | CA2579725522 | NSDHL | c.687-9C>A (n.687-9C>A) c.735-9C>A (n.735-9C>A) | gnomAD v4 |
X | g.152867562C= | CA2466153894 | NSDHL | c.687-9C= (n.687-9C=) c.735-9C= (n.735-9C=) | |
X | g.152867562C>T | CA10544823 | NSDHL | c.687-9C>T (n.687-9C>T) c.735-9C>T (n.735-9C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.152867563A>G | CA2694983371 | NSDHL | c.687-8A>G (n.687-8A>G) c.735-8A>G (n.735-8A>G) | gnomAD v4 |
X | g.152867564C>A | CA2694983372 | NSDHL | c.687-7C>A (n.687-7C>A) c.735-7C>A (n.735-7C>A) | gnomAD v4 |
X | g.152867564C>T | CA2694983373 | NSDHL | c.687-7C>T (n.687-7C>T) c.735-7C>T (n.735-7C>T) | gnomAD v4 |
X | g.152867565C>A | CA2694983374 | NSDHL | c.687-6C>A (n.687-6C>A) c.735-6C>A (n.735-6C>A) | gnomAD v4 |
X | g.152867566T>C | CA2838861341 | NSDHL | c.687-5T>C (n.687-5T>C) c.735-5T>C (n.735-5T>C) | |
X | g.152867567G>A | CA2694983375 | NSDHL | c.687-4G>A (n.687-4G>A) c.735-4G>A (n.735-4G>A) | gnomAD v4 |
X | g.152867568C>A | CA2694983376 | NSDHL | c.687-3C>A (n.687-3C>A) c.735-3C>A (n.735-3C>A) | gnomAD v4 |
X | g.152867568C>T | CA2694983377 | NSDHL | c.687-3C>T (n.687-3C>T) c.735-3C>T (n.735-3C>T) | gnomAD v4 |
X | g.152867569A>C | CA415286791 | NSDHL | c.687-2A>C (n.687-2A>C) c.735-2A>C (n.735-2A>C) | |
X | g.152867569A>G | CA415286792 | NSDHL | c.687-2A>G (n.687-2A>G) c.735-2A>G (n.735-2A>G) | gnomAD v4 |
X | g.152867569A>T | CA415286793 | NSDHL | c.687-2A>T (n.687-2A>T) c.735-2A>T (n.735-2A>T) | |
X | g.152867570G>A | CA415286794 | NSDHL | c.687-1G>A (n.687-1G>A) c.735-1G>A (n.735-1G>A) | gnomAD v4 |
X | g.152867570G>C | CA415286795 | NSDHL | c.687-1G>C (n.687-1G>C) c.735-1G>C (n.735-1G>C) | |
X | g.152867570G>T | CA415286796 | NSDHL | c.687-1G>T (n.687-1G>T) c.735-1G>T (n.735-1G>T) | |
X | g.152867571A>C | CA519157522 | NSDHL | c.687A>C (p.Gly229=) c.735A>C (p.Gly245=) | |
X | g.152867571A>G | CA519157523 | NSDHL | c.687A>G (p.Gly229=) c.735A>G (p.Gly245=) | gnomAD v4 |
X | g.152867571A>T | CA519157524 | NSDHL | c.687A>T (p.Gly229=) c.735A>T (p.Gly245=) | |
X | g.152867572A>C | CA415286799 | NSDHL | c.688A>C (p.Asn230His) c.736A>C (p.Asn246His) | |
X | g.152867572A>G | CA415286797 | NSDHL | c.688A>G (p.Asn230Asp) c.736A>G (p.Asn246Asp) | |
X | g.152867572A>T | CA415286798 | NSDHL | c.688A>T (p.Asn230Tyr) c.736A>T (p.Asn246Tyr) | |
X | g.152867573A>C | CA415286800 | NSDHL | c.689A>C (p.Asn230Thr) c.737A>C (p.Asn246Thr) | |
X | g.152867573A>G | CA415286801 | NSDHL | c.689A>G (p.Asn230Ser) c.737A>G (p.Asn246Ser) | |
X | g.152867573A>T | CA415286802 | NSDHL | c.689A>T (p.Asn230Ile) c.737A>T (p.Asn246Ile) | |
X | g.152867574T>A | CA415286803 | NSDHL | c.690T>A (p.Asn230Lys) c.738T>A (p.Asn246Lys) | |
X | g.152867574T>C | CA519157525 | NSDHL | c.690T>C (p.Asn230=) c.738T>C (p.Asn246=) | gnomAD v4 |
X | g.152867574T>G | CA415286804 | NSDHL | c.690T>G (p.Asn230Lys) c.738T>G (p.Asn246Lys) | |
X | g.152867575G>A | CA415286807 | NSDHL | c.691G>A (p.Gly231Arg) c.739G>A (p.Gly247Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.152867575G>C | CA415286805 | NSDHL | c.691G>C (p.Gly231Arg) c.739G>C (p.Gly247Arg) | |
X | g.152867575G= | CA2466153895 | NSDHL | c.691G= (p.Gly231=) c.739G= (p.Gly247=) | |
X | g.152867575G>T | CA415286806 | NSDHL | c.691G>T (p.Gly231Trp) c.739G>T (p.Gly247Trp) | |
X | g.152867577del | CA2579725523 | NSDHL | c.693del (p.Lys232ArgfsTer?) c.741del (p.Lys248ArgfsTer?) | |
X | g.152867576G>A | CA337613347 | NSDHL | c.692G>A (p.Gly231Glu) c.740G>A (p.Gly247Glu) | dbSNP gnomAD v3 gnomAD v4 |
X | g.152867576G>C | CA415286808 | NSDHL | c.692G>C (p.Gly231Ala) c.740G>C (p.Gly247Ala) | |
X | g.152867576G= | CA2466153897 | NSDHL | c.692G= (p.Gly231=) c.740G= (p.Gly247=) | |
X | g.152867576G>T | CA415286809 | NSDHL | c.692G>T (p.Gly231Val) c.740G>T (p.Gly247Val) | |
X | g.152867576_152867579delinsGGAA | CA2466153896 | NSDHL | c.692_695delinsGGAA (p.Gly231=) c.740_743delinsGGAA (p.Gly247=) | |
X | g.152867577G>A | CA519157526 | NSDHL | c.693G>A (p.Gly231=) c.741G>A (p.Gly247=) | gnomAD v4 |
X | g.152867577G>C | CA519157528 | NSDHL | c.693G>C (p.Gly231=) c.741G>C (p.Gly247=) | |
X | g.152867577G>T | CA519157527 | NSDHL | c.693G>T (p.Gly231=) c.741G>T (p.Gly247=) | |
X | g.152867580_152867582del | CA341819 | NSDHL | c.696_698del (p.Lys232del) c.744_746del (p.Lys248del) | ClinVar dbSNP |
X | g.152867578A>C | CA415286810 | NSDHL | c.694A>C (p.Lys232Gln) c.742A>C (p.Lys248Gln) | |
X | g.152867578A>G | CA415286811 | NSDHL | c.694A>G (p.Lys232Glu) c.742A>G (p.Lys248Glu) | |
X | g.152867578A>T | CA415286812 | NSDHL | c.694A>T (p.Lys232Ter) c.742A>T (p.Lys248Ter) | |
X | g.152867579A= | CA2466153898 | NSDHL | c.695A= (p.Lys232=) c.743A= (p.Lys248=) | |
X | g.152867579A>C | CA415286813 | NSDHL | c.695A>C (p.Lys232Thr) c.743A>C (p.Lys248Thr) | |
X | g.152867579A>G | CA415286814 | NSDHL | c.695A>G (p.Lys232Arg) c.743A>G (p.Lys248Arg) | dbSNP |
X | g.152867579A>T | CA415286815 | NSDHL | c.695A>T (p.Lys232Met) c.743A>T (p.Lys248Met) | |
X | g.152867580G>A | CA519157529 | NSDHL | c.696G>A (p.Lys232=) c.744G>A (p.Lys248=) | |
X | g.152867580G>C | CA415286816 | NSDHL | c.696G>C (p.Lys232Asn) c.744G>C (p.Lys248Asn) | gnomAD v4 |
X | g.152867580G>T | CA415286817 | NSDHL | c.696G>T (p.Lys232Asn) c.744G>T (p.Lys248Asn) | |
X | g.152867581A>C | CA415286818 | NSDHL | c.697A>C (p.Asn233His) c.745A>C (p.Asn249His) | |
X | g.152867581A>G | CA415286820 | NSDHL | c.697A>G (p.Asn233Asp) c.745A>G (p.Asn249Asp) | |
X | g.152867581A>T | CA415286819 | NSDHL | c.697A>T (p.Asn233Tyr) c.745A>T (p.Asn249Tyr) | |
X | g.152867582A>C | CA415286821 | NSDHL | c.698A>C (p.Asn233Thr) c.746A>C (p.Asn249Thr) | |
X | g.152867582A>G | CA415286822 | NSDHL | c.698A>G (p.Asn233Ser) c.746A>G (p.Asn249Ser) | |
X | g.152867582A>T | CA415286823 | NSDHL | c.698A>T (p.Asn233Ile) c.746A>T (p.Asn249Ile) | |
X | g.152867583C>A | CA415286824 | NSDHL | c.699C>A (p.Asn233Lys) c.747C>A (p.Asn249Lys) | gnomAD v4 |
X | g.152867583C>G | CA415286825 | NSDHL | c.699C>G (p.Asn233Lys) c.747C>G (p.Asn249Lys) | |
X | g.152867583C>T | CA519157530 | NSDHL | c.699C>T (p.Asn233=) c.747C>T (p.Asn249=) | |
X | g.152867584T>A | CA415286826 | NSDHL | c.700T>A (p.Leu234Met) c.748T>A (p.Leu250Met) | |
X | g.152867584T>C | CA519157531 | NSDHL | c.700T>C (p.Leu234=) c.748T>C (p.Leu250=) | |
X | g.152867584T>G | CA415286827 | NSDHL | c.700T>G (p.Leu234Val) c.748T>G (p.Leu250Val) | |
X | g.152867585T>A | CA415286828 | NSDHL | c.701T>A (p.Leu234Ter) c.749T>A (p.Leu250Ter) | |
X | g.152867585T>C | CA415286829 | NSDHL | c.701T>C (p.Leu234Ser) c.749T>C (p.Leu250Ser) | |
X | g.152867585T>G | CA415286830 | NSDHL | c.701T>G (p.Leu234Trp) c.749T>G (p.Leu250Trp) | |
X | g.152867586G>A | CA519157532 | NSDHL | c.702G>A (p.Leu234=) c.750G>A (p.Leu250=) | |
X | g.152867586G>C | CA415286831 | NSDHL | c.702G>C (p.Leu234Phe) c.750G>C (p.Leu250Phe) | |
X | g.152867586G>T | CA415286832 | NSDHL | c.702G>T (p.Leu234Phe) c.750G>T (p.Leu250Phe) | |
X | g.152867587G>A | CA415286835 | NSDHL | c.703G>A (p.Val235Met) c.751G>A (p.Val251Met) | |
X | g.152867587G>C | CA415286833 | NSDHL | c.703G>C (p.Val235Leu) c.751G>C (p.Val251Leu) | |
X | g.152867587G>T | CA415286834 | NSDHL | c.703G>T (p.Val235Leu) c.751G>T (p.Val251Leu) | |
X | g.152867588T>A | CA415286836 | NSDHL | c.704T>A (p.Val235Glu) c.752T>A (p.Val251Glu) | |
X | g.152867588T>C | CA415286837 | NSDHL | c.704T>C (p.Val235Ala) c.752T>C (p.Val251Ala) | |
X | g.152867588T>G | CA415286838 | NSDHL | c.704T>G (p.Val235Gly) c.752T>G (p.Val251Gly) | |
X | g.152867589G>A | CA519157533 | NSDHL | c.705G>A (p.Val235=) c.753G>A (p.Val251=) | |
X | g.152867589G>C | CA519157534 | NSDHL | c.705G>C (p.Val235=) c.753G>C (p.Val251=) | |
X | g.152867589G>T | CA519157535 | NSDHL | c.705G>T (p.Val235=) c.753G>T (p.Val251=) | |
X | g.152867590del | CA2579725524 | NSDHL | c.706del (p.Asp236ThrfsTer?) c.754del (p.Asp252ThrfsTer?) | |
X | g.152867590G>A | CA415286839 | NSDHL | c.706G>A (p.Asp236Asn) c.754G>A (p.Asp252Asn) | |
X | g.152867590G>C | CA415286840 | NSDHL | c.706G>C (p.Asp236His) c.754G>C (p.Asp252His) | |
X | g.152867590G>T | CA415286841 | NSDHL | c.706G>T (p.Asp236Tyr) c.754G>T (p.Asp252Tyr) | |
X | g.152867591A>C | CA415286842 | NSDHL | c.707A>C (p.Asp236Ala) c.755A>C (p.Asp252Ala) | |
X | g.152867591A>G | CA415286843 | NSDHL | c.707A>G (p.Asp236Gly) c.755A>G (p.Asp252Gly) | |
X | g.152867591A>T | CA415286844 | NSDHL | c.707A>T (p.Asp236Val) c.755A>T (p.Asp252Val) | |
X | g.152867592C>A | CA415286845 | NSDHL | c.708C>A (p.Asp236Glu) c.756C>A (p.Asp252Glu) | gnomAD v4 |
X | g.152867592C>G | CA415286846 | NSDHL | c.708C>G (p.Asp236Glu) c.756C>G (p.Asp252Glu) | |
X | g.152867592C>T | CA519157536 | NSDHL | c.708C>T (p.Asp236=) c.756C>T (p.Asp252=) | |
X | g.152867593T>A | CA415286847 | NSDHL | c.709T>A (p.Phe237Ile) c.757T>A (p.Phe253Ile) | |
X | g.152867593T>C | CA415286849 | NSDHL | c.709T>C (p.Phe237Leu) c.757T>C (p.Phe253Leu) | gnomAD v4 |
X | g.152867593T>G | CA415286848 | NSDHL | c.709T>G (p.Phe237Val) c.757T>G (p.Phe253Val) | |
X | g.152867594T>A | CA415286850 | NSDHL | c.710T>A (p.Phe237Tyr) c.758T>A (p.Phe253Tyr) | |
X | g.152867594T>C | CA415286852 | NSDHL | c.710T>C (p.Phe237Ser) c.758T>C (p.Phe253Ser) | |
X | g.152867594T>G | CA415286851 | NSDHL | c.710T>G (p.Phe237Cys) c.758T>G (p.Phe253Cys) | |
X | g.152867595del | CA2579725525 | NSDHL | c.711del (p.Phe237LeufsTer?) c.759del (p.Phe253LeufsTer?) | |
X | g.152867595C>A | CA415286853 | NSDHL | c.711C>A (p.Phe237Leu) c.759C>A (p.Phe253Leu) | |
X | g.152867595C>G | CA415286854 | NSDHL | c.711C>G (p.Phe237Leu) c.759C>G (p.Phe253Leu) | |
X | g.152867595C>T | CA519157537 | NSDHL | c.711C>T (p.Phe237=) c.759C>T (p.Phe253=) | |
X | g.152867596A>C | CA415286855 | NSDHL | c.712A>C (p.Thr238Pro) c.760A>C (p.Thr254Pro) | |
X | g.152867596A>G | CA415286856 | NSDHL | c.712A>G (p.Thr238Ala) c.760A>G (p.Thr254Ala) | gnomAD v4 |
X | g.152867596A>T | CA415286857 | NSDHL | c.712A>T (p.Thr238Ser) c.760A>T (p.Thr254Ser) | |
X | g.152867597C>A | CA415286858 | NSDHL | c.713C>A (p.Thr238Asn) c.761C>A (p.Thr254Asn) | |
X | g.152867597C>G | CA415286859 | NSDHL | c.713C>G (p.Thr238Ser) c.761C>G (p.Thr254Ser) | |
X | g.152867597C>T | CA415286860 | NSDHL | c.713C>T (p.Thr238Ile) c.761C>T (p.Thr254Ile) | |
X | g.152867598C>A | CA519157538 | NSDHL | c.714C>A (p.Thr238=) c.762C>A (p.Thr254=) | gnomAD v4 |
X | g.152867598C>G | CA519157539 | NSDHL | c.714C>G (p.Thr238=) c.762C>G (p.Thr254=) | |
X | g.152867598C>T | CA519157540 | NSDHL | c.714C>T (p.Thr238=) c.762C>T (p.Thr254=) | |
X | g.152867599T>A | CA415286861 | NSDHL | c.715T>A (p.Phe239Ile) c.763T>A (p.Phe255Ile) | |
X | g.152867599T>C | CA415286862 | NSDHL | c.715T>C (p.Phe239Leu) c.763T>C (p.Phe255Leu) | |
X | g.152867599T>G | CA415286863 | NSDHL | c.715T>G (p.Phe239Val) c.763T>G (p.Phe255Val) | |
X | g.152867601dup | CA2739239817 | NSDHL | c.717dup (p.Val240CysfsTer?) c.765dup (p.Val256CysfsTer?) | dbSNP |
X | g.152867600T>A | CA415286864 | NSDHL | c.716T>A (p.Phe239Tyr) c.764T>A (p.Phe255Tyr) | |
X | g.152867600T>C | CA415286866 | NSDHL | c.716T>C (p.Phe239Ser) c.764T>C (p.Phe255Ser) | |
X | g.152867600T>G | CA415286865 | NSDHL | c.716T>G (p.Phe239Cys) c.764T>G (p.Phe255Cys) | |
X | g.152867601T>A | CA415286867 | NSDHL | c.717T>A (p.Phe239Leu) c.765T>A (p.Phe255Leu) | |
X | g.152867601T>C | CA519157541 | NSDHL | c.717T>C (p.Phe239=) c.765T>C (p.Phe255=) | |
X | g.152867601T>G | CA415286868 | NSDHL | c.717T>G (p.Phe239Leu) c.765T>G (p.Phe255Leu) | |
X | g.152867602G>A | CA415286869 | NSDHL | c.718G>A (p.Val240Met) c.766G>A (p.Val256Met) | |
X | g.152867602G>C | CA415286870 | NSDHL | c.718G>C (p.Val240Leu) c.766G>C (p.Val256Leu) | |
X | g.152867602G>T | CA415286871 | NSDHL | c.718G>T (p.Val240Leu) c.766G>T (p.Val256Leu) | |
X | g.152867603T>A | CA415286872 | NSDHL | c.719T>A (p.Val240Glu) c.767T>A (p.Val256Glu) | |
X | g.152867603T>C | CA415286873 | NSDHL | c.719T>C (p.Val240Ala) c.767T>C (p.Val256Ala) | |
X | g.152867603T>G | CA415286874 | NSDHL | c.719T>G (p.Val240Gly) c.767T>G (p.Val256Gly) | |
X | g.152867604G>A | CA10544824 | NSDHL | c.720G>A (p.Val240=) c.768G>A (p.Val256=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.152867604G>C | CA519157542 | NSDHL | c.720G>C (p.Val240=) c.768G>C (p.Val256=) | |
X | g.152867604G= | CA2466153899 | NSDHL | c.720G= (p.Val240=) c.768G= (p.Val256=) | |
X | g.152867604G>T | CA519157543 | NSDHL | c.720G>T (p.Val240=) c.768G>T (p.Val256=) | |
X | g.152867605G>A | CA415286876 | NSDHL | c.721G>A (p.Glu241Lys) c.769G>A (p.Glu257Lys) | |
X | g.152867605G>C | CA415286877 | NSDHL | c.721G>C (p.Glu241Gln) c.769G>C (p.Glu257Gln) | |
X | g.152867605G>T | CA415286875 | NSDHL | c.721G>T (p.Glu241Ter) c.769G>T (p.Glu257Ter) | |
X | g.152867606A>C | CA415286878 | NSDHL | c.722A>C (p.Glu241Ala) c.770A>C (p.Glu257Ala) | |
X | g.152867606A>G | CA415286879 | NSDHL | c.722A>G (p.Glu241Gly) c.770A>G (p.Glu257Gly) | |
X | g.152867606A>T | CA415286880 | NSDHL | c.722A>T (p.Glu241Val) c.770A>T (p.Glu257Val) |