UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| X | g.152867607G>A | CA519157544 | NSDHL | c.723G>A (p.Glu241=) c.771G>A (p.Glu257=) | |
| X | g.152867607G>C | CA415286881 | NSDHL | c.723G>C (p.Glu241Asp) c.771G>C (p.Glu257Asp) | gnomAD v4 |
| X | g.152867607G= | CA2466153900 | NSDHL | c.723G= (p.Glu241=) c.771G= (p.Glu257=) | |
| X | g.152867607G>T | CA337613355 | NSDHL | c.723G>T (p.Glu241Asp) c.771G>T (p.Glu257Asp) | dbSNP |
| X | g.152867608A>C | CA415286882 | NSDHL | c.724A>C (p.Asn242His) c.772A>C (p.Asn258His) | |
| X | g.152867608A>G | CA415286883 | NSDHL | c.724A>G (p.Asn242Asp) c.772A>G (p.Asn258Asp) | |
| X | g.152867608A>T | CA415286884 | NSDHL | c.724A>T (p.Asn242Tyr) c.772A>T (p.Asn258Tyr) | |
| X | g.152867609A>C | CA415286885 | NSDHL | c.725A>C (p.Asn242Thr) c.773A>C (p.Asn258Thr) | |
| X | g.152867609A>G | CA415286886 | NSDHL | c.725A>G (p.Asn242Ser) c.773A>G (p.Asn258Ser) | |
| X | g.152867609A>T | CA415286887 | NSDHL | c.725A>T (p.Asn242Ile) c.773A>T (p.Asn258Ile) | |
| X | g.152867610C>A | CA415286889 | NSDHL | c.726C>A (p.Asn242Lys) c.774C>A (p.Asn258Lys) | |
| X | g.152867610C= | CA2466153901 | NSDHL | c.726C= (p.Asn242=) c.774C= (p.Asn258=) | |
| X | g.152867610C>G | CA415286888 | NSDHL | c.726C>G (p.Asn242Lys) c.774C>G (p.Asn258Lys) | |
| X | g.152867610C>T | CA10544825 | NSDHL | c.726C>T (p.Asn242=) c.774C>T (p.Asn258=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.152867611G>A | CA272342 | NSDHL | c.727G>A (p.Val243Met) c.775G>A (p.Val259Met) | ClinVar dbSNP |
| X | g.152867611G>C | CA415286890 | NSDHL | c.727G>C (p.Val243Leu) c.775G>C (p.Val259Leu) | |
| X | g.152867611G= | CA2466153902 | NSDHL | c.727G= (p.Val243=) c.775G= (p.Val259=) | |
| X | g.152867611G>T | CA415286891 | NSDHL | c.727G>T (p.Val243Leu) c.775G>T (p.Val259Leu) | |
| X | g.152867612T>A | CA415286892 | NSDHL | c.728T>A (p.Val243Glu) c.776T>A (p.Val259Glu) | |
| X | g.152867612T>C | CA415286893 | NSDHL | c.728T>C (p.Val243Ala) c.776T>C (p.Val259Ala) | |
| X | g.152867612T>G | CA415286894 | NSDHL | c.728T>G (p.Val243Gly) c.776T>G (p.Val259Gly) | |
| X | g.152867613G>A | CA519157550 | NSDHL | c.729G>A (p.Val243=) c.777G>A (p.Val259=) | |
| X | g.152867613G>C | CA519157551 | NSDHL | c.729G>C (p.Val243=) c.777G>C (p.Val259=) | |
| X | g.152867613G>T | CA519157552 | NSDHL | c.729G>T (p.Val243=) c.777G>T (p.Val259=) | |
| X | g.152867614G>A | CA415286895 | NSDHL | c.730G>A (p.Val244Ile) c.778G>A (p.Val260Ile) | |
| X | g.152867614G>C | CA415286896 | NSDHL | c.730G>C (p.Val244Leu) c.778G>C (p.Val260Leu) | |
| X | g.152867614G>T | CA415286897 | NSDHL | c.730G>T (p.Val244Phe) c.778G>T (p.Val260Phe) | |
| X | g.152867615T>A | CA415286898 | NSDHL | c.731T>A (p.Val244Asp) c.779T>A (p.Val260Asp) | |
| X | g.152867615T>C | CA415286899 | NSDHL | c.731T>C (p.Val244Ala) c.779T>C (p.Val260Ala) | |
| X | g.152867615T>G | CA415286900 | NSDHL | c.731T>G (p.Val244Gly) c.779T>G (p.Val260Gly) | |
| X | g.152867616C>A | CA519157553 | NSDHL | c.732C>A (p.Val244=) c.780C>A (p.Val260=) | COSMIC |
| X | g.152867616C>G | CA519157554 | NSDHL | c.732C>G (p.Val244=) c.780C>G (p.Val260=) | gnomAD v4 |
| X | g.152867616C>T | CA519157555 | NSDHL | c.732C>T (p.Val244=) c.780C>T (p.Val260=) | |
| X | g.152867617C>A | CA415286901 | NSDHL | c.733C>A (p.His245Asn) c.781C>A (p.His261Asn) | dbSNP |
| X | g.152867617C= | CA2466153903 | NSDHL | c.733C= (p.His245=) c.781C= (p.His261=) | |
| X | g.152867617C>G | CA415286903 | NSDHL | c.733C>G (p.His245Asp) c.781C>G (p.His261Asp) | |
| X | g.152867617C>T | CA415286902 | NSDHL | c.733C>T (p.His245Tyr) c.781C>T (p.His261Tyr) | |
| X | g.152867618A>C | CA415286904 | NSDHL | c.734A>C (p.His245Pro) c.782A>C (p.His261Pro) | |
| X | g.152867618A>G | CA415286906 | NSDHL | c.734A>G (p.His245Arg) c.782A>G (p.His261Arg) | gnomAD v4 |
| X | g.152867618A>T | CA415286905 | NSDHL | c.734A>T (p.His245Leu) c.782A>T (p.His261Leu) | |
| X | g.152867619T>A | CA415286907 | NSDHL | c.735T>A (p.His245Gln) c.783T>A (p.His261Gln) | |
| X | g.152867619T>C | CA10544826 | NSDHL | c.735T>C (p.His245=) c.783T>C (p.His261=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.152867619T>G | CA415286908 | NSDHL | c.735T>G (p.His245Gln) c.783T>G (p.His261Gln) | |
| X | g.152867619T= | CA2466153904 | NSDHL | c.735T= (p.His245=) c.783T= (p.His261=) | |
| X | g.152867620G>A | CA415286909 | NSDHL | c.736G>A (p.Gly246Arg) c.784G>A (p.Gly262Arg) | |
| X | g.152867620G>C | CA415286911 | NSDHL | c.736G>C (p.Gly246Arg) c.784G>C (p.Gly262Arg) | |
| X | g.152867620G>T | CA415286910 | NSDHL | c.736G>T (p.Gly246Ter) c.784G>T (p.Gly262Ter) | |
| X | g.152867621G>A | CA415286912 | NSDHL | c.737G>A (p.Gly246Glu) c.785G>A (p.Gly262Glu) | |
| X | g.152867621G>C | CA415286913 | NSDHL | c.737G>C (p.Gly246Ala) c.785G>C (p.Gly262Ala) | |
| X | g.152867621G>T | CA415286914 | NSDHL | c.737G>T (p.Gly246Val) c.785G>T (p.Gly262Val) | |
| X | g.152867622A= | CA2466153905 | NSDHL | c.738A= (p.Gly246=) c.786A= (p.Gly262=) | |
| X | g.152867622A>C | CA519157557 | NSDHL | c.738A>C (p.Gly246=) c.786A>C (p.Gly262=) | |
| X | g.152867622A>G | CA337613357 | NSDHL | c.738A>G (p.Gly246=) c.786A>G (p.Gly262=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.152867622A>T | CA519157556 | NSDHL | c.738A>T (p.Gly246=) c.786A>T (p.Gly262=) | |
| X | g.152867623C>A | CA415286915 | NSDHL | c.739C>A (p.His247Asn) c.787C>A (p.His263Asn) | |
| X | g.152867623C>G | CA415286916 | NSDHL | c.739C>G (p.His247Asp) c.787C>G (p.His263Asp) | |
| X | g.152867623C>T | CA415286917 | NSDHL | c.739C>T (p.His247Tyr) c.787C>T (p.His263Tyr) | |
| X | g.152867624A>C | CA415286918 | NSDHL | c.740A>C (p.His247Pro) c.788A>C (p.His263Pro) | |
| X | g.152867624A>G | CA415286919 | NSDHL | c.740A>G (p.His247Arg) c.788A>G (p.His263Arg) | |
| X | g.152867624A>T | CA415286920 | NSDHL | c.740A>T (p.His247Leu) c.788A>T (p.His263Leu) | |
| X | g.152867625C>A | CA415286922 | NSDHL | c.741C>A (p.His247Gln) c.789C>A (p.His263Gln) | |
| X | g.152867625C>G | CA415286921 | NSDHL | c.741C>G (p.His247Gln) c.789C>G (p.His263Gln) | |
| X | g.152867625C>T | CA519157558 | NSDHL | c.741C>T (p.His247=) c.789C>T (p.His263=) | |
| X | g.152867626A= | CA2466153906 | NSDHL | c.742A= (p.Ile248=) c.790A= (p.Ile264=) | |
| X | g.152867626A>C | CA415286923 | NSDHL | c.742A>C (p.Ile248Leu) c.790A>C (p.Ile264Leu) | gnomAD v4 |
| X | g.152867626A>G | CA415286924 | NSDHL | c.742A>G (p.Ile248Val) c.790A>G (p.Ile264Val) | dbSNP |
| X | g.152867626A>T | CA415286925 | NSDHL | c.742A>T (p.Ile248Phe) c.790A>T (p.Ile264Phe) | |
| X | g.152867627T>A | CA415286926 | NSDHL | c.743T>A (p.Ile248Asn) c.791T>A (p.Ile264Asn) | |
| X | g.152867627T>C | CA415286927 | NSDHL | c.743T>C (p.Ile248Thr) c.791T>C (p.Ile264Thr) | |
| X | g.152867627T>G | CA415286928 | NSDHL | c.743T>G (p.Ile248Ser) c.791T>G (p.Ile264Ser) | |
| X | g.152867628C>A | CA519157560 | NSDHL | c.744C>A (p.Ile248=) c.792C>A (p.Ile264=) | |
| X | g.152867628C>G | CA415286929 | NSDHL | c.744C>G (p.Ile248Met) c.792C>G (p.Ile264Met) | |
| X | g.152867628C>T | CA519157559 | NSDHL | c.744C>T (p.Ile248=) c.792C>T (p.Ile264=) | |
| X | g.152867629C>A | CA415286930 | NSDHL | c.745C>A (p.Leu249Met) c.793C>A (p.Leu265Met) | |
| X | g.152867629C>G | CA415286931 | NSDHL | c.745C>G (p.Leu249Val) c.793C>G (p.Leu265Val) | |
| X | g.152867629C>T | CA519157561 | NSDHL | c.745C>T (p.Leu249=) c.793C>T (p.Leu265=) | gnomAD v4 |
| X | g.152867630T>A | CA415286934 | NSDHL | c.746T>A (p.Leu249Gln) c.794T>A (p.Leu265Gln) | |
| X | g.152867630T>C | CA415286933 | NSDHL | c.746T>C (p.Leu249Pro) c.794T>C (p.Leu265Pro) | |
| X | g.152867630T>G | CA415286932 | NSDHL | c.746T>G (p.Leu249Arg) c.794T>G (p.Leu265Arg) | |
| X | g.152867631G>A | CA519157562 | NSDHL | c.747G>A (p.Leu249=) c.795G>A (p.Leu265=) | |
| X | g.152867631G>C | CA519157563 | NSDHL | c.747G>C (p.Leu249=) c.795G>C (p.Leu265=) | |
| X | g.152867631G>T | CA519157564 | NSDHL | c.747G>T (p.Leu249=) c.795G>T (p.Leu265=) | |
| X | g.152867632G>A | CA415286935 | NSDHL | c.748G>A (p.Ala250Thr) c.796G>A (p.Ala266Thr) | |
| X | g.152867632G>C | CA415286936 | NSDHL | c.748G>C (p.Ala250Pro) c.796G>C (p.Ala266Pro) | |
| X | g.152867632G>T | CA415286937 | NSDHL | c.748G>T (p.Ala250Ser) c.796G>T (p.Ala266Ser) | |
| X | g.152867633C>A | CA415286938 | NSDHL | c.749C>A (p.Ala250Glu) c.797C>A (p.Ala266Glu) | gnomAD v4 |
| X | g.152867633C= | CA2466153907 | NSDHL | c.749C= (p.Ala250=) c.797C= (p.Ala266=) | |
| X | g.152867633C>G | CA415286939 | NSDHL | c.749C>G (p.Ala250Gly) c.797C>G (p.Ala266Gly) | |
| X | g.152867633C>T | CA10544827 | NSDHL | c.749C>T (p.Ala250Val) c.797C>T (p.Ala266Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.152867634G>A | CA207465 | NSDHL | c.750G>A (p.Ala250=) c.798G>A (p.Ala266=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.152867634G>C | CA519157566 | NSDHL | c.750G>C (p.Ala250=) c.798G>C (p.Ala266=) | |
| X | g.152867634G= | CA2466153908 | NSDHL | c.750G= (p.Ala250=) c.798G= (p.Ala266=) | |
| X | g.152867634G>T | CA519157565 | NSDHL | c.750G>T (p.Ala250=) c.798G>T (p.Ala266=) | gnomAD v4 |
| X | g.152867635G>A | CA415286940 | NSDHL | c.751G>A (p.Ala251Thr) c.799G>A (p.Ala267Thr) | |
| X | g.152867635G>C | CA415286941 | NSDHL | c.751G>C (p.Ala251Pro) c.799G>C (p.Ala267Pro) | |
| X | g.152867635G>T | CA415286942 | NSDHL | c.751G>T (p.Ala251Ser) c.799G>T (p.Ala267Ser) | |
| X | g.152867636C>A | CA415286945 | NSDHL | c.752C>A (p.Ala251Glu) c.800C>A (p.Ala267Glu) | |
| X | g.152867636C>G | CA415286944 | NSDHL | c.752C>G (p.Ala251Gly) c.800C>G (p.Ala267Gly) | |
| X | g.152867636C>T | CA415286943 | NSDHL | c.752C>T (p.Ala251Val) c.800C>T (p.Ala267Val) | |
| X | g.152867637A>C | CA519157569 | NSDHL | c.753A>C (p.Ala251=) c.801A>C (p.Ala267=) | |
| X | g.152867637A>G | CA519157568 | NSDHL | c.753A>G (p.Ala251=) c.801A>G (p.Ala267=) | |
| X | g.152867637A>T | CA519157567 | NSDHL | c.753A>T (p.Ala251=) c.801A>T (p.Ala267=) | |
| X | g.152867638G>A | CA415286946 | NSDHL | c.754G>A (p.Glu252Lys) c.802G>A (p.Glu268Lys) | |
| X | g.152867638G>C | CA10544828 | NSDHL | c.754G>C (p.Glu252Gln) c.802G>C (p.Glu268Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.152867638G= | CA2466153909 | NSDHL | c.754G= (p.Glu252=) c.802G= (p.Glu268=) | |
| X | g.152867638G>T | CA415286947 | NSDHL | c.754G>T (p.Glu252Ter) c.802G>T (p.Glu268Ter) | |
| X | g.152867639A>C | CA415286948 | NSDHL | c.755A>C (p.Glu252Ala) c.803A>C (p.Glu268Ala) | |
| X | g.152867639A>G | CA415286949 | NSDHL | c.755A>G (p.Glu252Gly) c.803A>G (p.Glu268Gly) | |
| X | g.152867639A>T | CA415286950 | NSDHL | c.755A>T (p.Glu252Val) c.803A>T (p.Glu268Val) | |
| X | g.152867640G>A | CA519157570 | NSDHL | c.756G>A (p.Glu252=) c.804G>A (p.Glu268=) | |
| X | g.152867640G>C | CA415286951 | NSDHL | c.756G>C (p.Glu252Asp) c.804G>C (p.Glu268Asp) | |
| X | g.152867640G>T | CA415286952 | NSDHL | c.756G>T (p.Glu252Asp) c.804G>T (p.Glu268Asp) | |
| X | g.152867641C>A | CA10544829 | NSDHL | c.757C>A (p.Gln253Lys) c.805C>A (p.Gln269Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.152867641C= | CA2466153910 | NSDHL | c.757C= (p.Gln253=) c.805C= (p.Gln269=) | |
| X | g.152867641C>G | CA415286953 | NSDHL | c.757C>G (p.Gln253Glu) c.805C>G (p.Gln269Glu) | |
| X | g.152867641C>T | CA272345 | NSDHL | c.757C>T (p.Gln253Ter) c.805C>T (p.Gln269Ter) | ClinVar dbSNP |
| X | g.152867642A>C | CA415286955 | NSDHL | c.758A>C (p.Gln253Pro) c.806A>C (p.Gln269Pro) | |
| X | g.152867642A>G | CA415286956 | NSDHL | c.758A>G (p.Gln253Arg) c.806A>G (p.Gln269Arg) | |
| X | g.152867642A>T | CA415286954 | NSDHL | c.758A>T (p.Gln253Leu) c.806A>T (p.Gln269Leu) | |
| X | g.152867643G>A | CA10544830 | NSDHL | c.759G>A (p.Gln253=) c.807G>A (p.Gln269=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.152867643G>C | CA415286957 | NSDHL | c.759G>C (p.Gln253His) c.807G>C (p.Gln269His) | |
| X | g.152867643G= | CA2466153911 | NSDHL | c.759G= (p.Gln253=) c.807G= (p.Gln269=) | |
| X | g.152867643G>T | CA415286958 | NSDHL | c.759G>T (p.Gln253His) c.807G>T (p.Gln269His) | |
| X | g.152867644C>A | CA415286959 | NSDHL | c.760C>A (p.Leu254Ile) c.808C>A (p.Leu270Ile) | |
| X | g.152867644C>G | CA415286960 | NSDHL | c.760C>G (p.Leu254Val) c.808C>G (p.Leu270Val) | gnomAD v4 |
| X | g.152867644C>T | CA415286961 | NSDHL | c.760C>T (p.Leu254Phe) c.808C>T (p.Leu270Phe) | |
| X | g.152867645T>A | CA415286962 | NSDHL | c.761T>A (p.Leu254His) c.809T>A (p.Leu270His) | |
| X | g.152867645T>C | CA415286963 | NSDHL | c.761T>C (p.Leu254Pro) c.809T>C (p.Leu270Pro) | |
| X | g.152867645T>G | CA415286964 | NSDHL | c.761T>G (p.Leu254Arg) c.809T>G (p.Leu270Arg) | |
| X | g.152867646C>A | CA519157571 | NSDHL | c.762C>A (p.Leu254=) c.810C>A (p.Leu270=) | |
| X | g.152867646C>G | CA519157573 | NSDHL | c.762C>G (p.Leu254=) c.810C>G (p.Leu270=) | |
| X | g.152867646C>T | CA519157572 | NSDHL | c.762C>T (p.Leu254=) c.810C>T (p.Leu270=) | |
| X | g.152867647T>A | CA415286965 | NSDHL | c.763T>A (p.Ser255Thr) c.763T>A c.811T>A (p.Ser271Thr) | |
| X | g.152867647T>C | CA415286966 | NSDHL | c.763T>C (p.Ser255Pro) c.763T>C c.811T>C (p.Ser271Pro) | |
| X | g.152867647T>G | CA415286967 | NSDHL | c.763T>G (p.Ser255Ala) c.763T>G c.811T>G (p.Ser271Ala) | |
| X | g.152867648C>A | CA415286970 | NSDHL | c.764C>A (p.Ser255Tyr) c.812C>A (p.Ser271Tyr) | |
| X | g.152867648C>G | CA415286969 | NSDHL | c.764C>G (p.Ser255Cys) c.812C>G (p.Ser271Cys) | |
| X | g.152867648C>T | CA415286968 | NSDHL | c.764C>T (p.Ser255Phe) c.812C>T (p.Ser271Phe) | gnomAD v4 |
| X | g.152867649C>A | CA519157574 | NSDHL | c.765C>A (p.Ser255=) c.813C>A (p.Ser271=) | |
| X | g.152867649C>G | CA519157575 | NSDHL | c.765C>G (p.Ser255=) c.813C>G (p.Ser271=) | |
| X | g.152867649C>T | CA519157576 | NSDHL | c.765C>T (p.Ser255=) c.813C>T (p.Ser271=) | |
| X | g.152867650C>A | CA10544831 | NSDHL | c.766C>A (p.Arg256=) c.814C>A (p.Arg272=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.152867650C= | CA2466153912 | NSDHL | c.766C= (p.Arg256=) c.814C= (p.Arg272=) | |
| X | g.152867650C>G | CA415286971 | NSDHL | c.766C>G (p.Arg256Gly) c.814C>G (p.Arg272Gly) | ClinVar gnomAD v4 |
| X | g.152867650C>T | CA415286972 | NSDHL | c.766C>T (p.Arg256Ter) c.814C>T (p.Arg272Ter) | gnomAD v4 COSMIC |
| X | g.152867651G>A | CA415286973 | NSDHL | c.767G>A (p.Arg256Gln) c.815G>A (p.Arg272Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.152867651G>C | CA415286974 | NSDHL | c.767G>C (p.Arg256Pro) c.815G>C (p.Arg272Pro) | |
| X | g.152867651G= | CA2466153913 | NSDHL | c.767G= (p.Arg256=) c.815G= (p.Arg272=) | |
| X | g.152867651G>T | CA415286975 | NSDHL | c.767G>T (p.Arg256Leu) c.815G>T (p.Arg272Leu) | |
| X | g.152867652A>C | CA519157577 | NSDHL | c.768A>C (p.Arg256=) c.816A>C (p.Arg272=) | |
| X | g.152867652A>G | CA519157578 | NSDHL | c.768A>G (p.Arg256=) c.816A>G (p.Arg272=) | gnomAD v4 |
| X | g.152867652A>T | CA519157579 | NSDHL | c.768A>T (p.Arg256=) c.816A>T (p.Arg272=) | |
| X | g.152867653G>A | CA415286976 | NSDHL | c.769G>A (p.Asp257Asn) c.817G>A (p.Asp273Asn) | gnomAD v4 |
| X | g.152867653G>C | CA415286977 | NSDHL | c.769G>C (p.Asp257His) c.817G>C (p.Asp273His) | |
| X | g.152867653G>T | CA415286978 | NSDHL | c.769G>T (p.Asp257Tyr) c.817G>T (p.Asp273Tyr) | gnomAD v4 |
| X | g.152867654A>C | CA415286979 | NSDHL | c.770A>C (p.Asp257Ala) c.818A>C (p.Asp273Ala) | |
| X | g.152867654A>G | CA415286980 | NSDHL | c.770A>G (p.Asp257Gly) c.818A>G (p.Asp273Gly) | |
| X | g.152867654A>T | CA415286981 | NSDHL | c.770A>T (p.Asp257Val) c.818A>T (p.Asp273Val) | |
| X | g.152867655C>A | CA415286982 | NSDHL | c.771C>A (p.Asp257Glu) c.819C>A (p.Asp273Glu) | gnomAD v4 |
| X | g.152867655C>G | CA415286983 | NSDHL | c.771C>G (p.Asp257Glu) c.819C>G (p.Asp273Glu) | |
| X | g.152867655C>T | CA519157580 | NSDHL | c.771C>T (p.Asp257=) c.819C>T (p.Asp273=) | |
| X | g.152867656T>A | CA415286984 | NSDHL | c.772T>A (p.Ser258Thr) c.820T>A (p.Ser274Thr) | |
| X | g.152867656T>C | CA415286985 | NSDHL | c.772T>C (p.Ser258Pro) c.820T>C (p.Ser274Pro) | |
| X | g.152867656T>G | CA415286986 | NSDHL | c.772T>G (p.Ser258Ala) c.820T>G (p.Ser274Ala) | dbSNP |
| X | g.152867656T= | CA2466153914 | NSDHL | c.772T= (p.Ser258=) c.820T= (p.Ser274=) | |
| X | g.152867657C>A | CA415286987 | NSDHL | c.773C>A (p.Ser258Ter) c.821C>A (p.Ser274Ter) | |
| X | g.152867657C= | CA2466153915 | NSDHL | c.773C= (p.Ser258=) c.821C= (p.Ser274=) | |
| X | g.152867657C>G | CA415286988 | NSDHL | c.773C>G (p.Ser258Trp) c.821C>G (p.Ser274Trp) | |
| X | g.152867657C>T | CA247290 | NSDHL | c.773C>T (p.Ser258Leu) c.821C>T (p.Ser274Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.152867658G>A | CA10544832 | NSDHL | c.774G>A (p.Ser258=) c.822G>A (p.Ser274=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.152867658G>C | CA519157581 | NSDHL | c.774G>C (p.Ser258=) c.822G>C (p.Ser274=) | |
| X | g.152867658G= | CA2466153916 | NSDHL | c.774G= (p.Ser258=) c.822G= (p.Ser274=) | |
| X | g.152867658G>T | CA519157582 | NSDHL | c.774G>T (p.Ser258=) c.822G>T (p.Ser274=) | |
| X | g.152867659A= | CA2466153917 | NSDHL | c.775A= (p.Thr259=) c.823A= (p.Thr275=) | |
| X | g.152867659A>C | CA415286989 | NSDHL | c.775A>C (p.Thr259Pro) c.823A>C (p.Thr275Pro) | |
| X | g.152867659A>G | CA10544833 | NSDHL | c.775A>G (p.Thr259Ala) c.823A>G (p.Thr275Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.152867659A>T | CA415286990 | NSDHL | c.775A>T (p.Thr259Ser) c.823A>T (p.Thr275Ser) | |
| X | g.152867660C>A | CA415286991 | NSDHL | c.776C>A (p.Thr259Lys) c.824C>A (p.Thr275Lys) | |
| X | g.152867660C>G | CA415286992 | NSDHL | c.776C>G (p.Thr259Arg) c.824C>G (p.Thr275Arg) | |
| X | g.152867660C>T | CA415286993 | NSDHL | c.776C>T (p.Thr259Ile) c.824C>T (p.Thr275Ile) | |
| X | g.152867661A>C | CA519157583 | NSDHL | c.777A>C (p.Thr259=) c.825A>C (p.Thr275=) | |
| X | g.152867661A>G | CA519157584 | NSDHL | c.777A>G (p.Thr259=) c.825A>G (p.Thr275=) | gnomAD v4 |
| X | g.152867661A>T | CA519157585 | NSDHL | c.777A>T (p.Thr259=) c.825A>T (p.Thr275=) | |
| X | g.152867662C>A | CA415286994 | NSDHL | c.778C>A (p.Leu260Met) c.826C>A (p.Leu276Met) | dbSNP |
| X | g.152867662C= | CA2466153918 | NSDHL | c.778C= (p.Leu260=) c.826C= (p.Leu276=) | |
| X | g.152867662C>G | CA415286995 | NSDHL | c.778C>G (p.Leu260Val) c.826C>G (p.Leu276Val) | gnomAD v4 |
| X | g.152867662C>T | CA337613372 | NSDHL | c.778C>T (p.Leu260=) c.826C>T (p.Leu276=) | dbSNP gnomAD v4 |
| X | g.152867663T>A | CA415286996 | NSDHL | c.779T>A (p.Leu260Gln) c.827T>A (p.Leu276Gln) | |
| X | g.152867663T>C | CA415286997 | NSDHL | c.779T>C (p.Leu260Pro) c.827T>C (p.Leu276Pro) | |
| X | g.152867663T>G | CA415286998 | NSDHL | c.779T>G (p.Leu260Arg) c.827T>G (p.Leu276Arg) | |
| X | g.152867664G>A | CA519157586 | NSDHL | c.780G>A (p.Leu260=) c.828G>A (p.Leu276=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.152867664G>C | CA519157587 | NSDHL | c.780G>C (p.Leu260=) c.828G>C (p.Leu276=) | |
| X | g.152867664G= | CA2466153919 | NSDHL | c.780G= (p.Leu260=) c.828G= (p.Leu276=) | |
| X | g.152867664G>T | CA519157588 | NSDHL | c.780G>T (p.Leu260=) c.828G>T (p.Leu276=) | |
| X | g.152867666del | CA2694983378 | NSDHL | c.782del (p.Gly261ValfsTer23) c.830del (p.Gly277ValfsTer23) | gnomAD v4 |
| X | g.152867665G>A | CA337613376 | NSDHL | c.781G>A (p.Gly261Ser) c.829G>A (p.Gly277Ser) | dbSNP gnomAD v4 |
| X | g.152867665G>C | CA415286999 | NSDHL | c.781G>C (p.Gly261Arg) c.829G>C (p.Gly277Arg) | |
| X | g.152867665G= | CA2466153920 | NSDHL | c.781G= (p.Gly261=) c.829G= (p.Gly277=) | |
| X | g.152867665G>T | CA415287000 | NSDHL | c.781G>T (p.Gly261Cys) c.829G>T (p.Gly277Cys) | |
| X | g.152867666G>A | CA415287001 | NSDHL | c.782G>A (p.Gly261Asp) c.830G>A (p.Gly277Asp) | |
| X | g.152867666G>C | CA10544834 | NSDHL | c.782G>C (p.Gly261Ala) c.830G>C (p.Gly277Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.152867666G= | CA2466153921 | NSDHL | c.782G= (p.Gly261=) c.830G= (p.Gly277=) | |
| X | g.152867666G>T | CA415287002 | NSDHL | c.782G>T (p.Gly261Val) c.830G>T (p.Gly277Val) | |
| X | g.152867667T>A | CA519157589 | NSDHL | c.783T>A (p.Gly261=) c.831T>A (p.Gly277=) | |
| X | g.152867667T>C | CA519157590 | NSDHL | c.783T>C (p.Gly261=) c.831T>C (p.Gly277=) | |
| X | g.152867667T>G | CA10544835 | NSDHL | c.783T>G (p.Gly261=) c.831T>G (p.Gly277=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.152867667T= | CA2466153922 | NSDHL | c.783T= (p.Gly261=) c.831T= (p.Gly277=) | |
| X | g.152867668G>A | CA415287005 | NSDHL | c.784G>A (p.Gly262Arg) c.832G>A (p.Gly278Arg) | |
| X | g.152867668G>C | CA415287004 | NSDHL | c.784G>C (p.Gly262Arg) c.832G>C (p.Gly278Arg) | |
| X | g.152867668G>T | CA415287003 | NSDHL | c.784G>T (p.Gly262Trp) c.832G>T (p.Gly278Trp) | |
| X | g.152867669G>A | CA415287006 | NSDHL | c.785G>A (p.Gly262Glu) c.833G>A (p.Gly278Glu) | gnomAD v4 |
| X | g.152867669G>C | CA415287008 | NSDHL | c.785G>C (p.Gly262Ala) c.833G>C (p.Gly278Ala) | |
| X | g.152867669G>T | CA415287007 | NSDHL | c.785G>T (p.Gly262Val) c.833G>T (p.Gly278Val) | |
| X | g.152867670G>A | CA519157591 | NSDHL | c.786G>A (p.Gly262=) c.834G>A (p.Gly278=) | |
| X | g.152867670G>C | CA519157592 | NSDHL | c.786G>C (p.Gly262=) c.834G>C (p.Gly278=) | |
| X | g.152867670G>T | CA519157593 | NSDHL | c.786G>T (p.Gly262=) c.834G>T (p.Gly278=) | |
| X | g.152867671A>C | CA415287009 | NSDHL | c.787A>C (p.Lys263Gln) c.835A>C (p.Lys279Gln) | |
| X | g.152867671A>G | CA415287011 | NSDHL | c.787A>G (p.Lys263Glu) c.835A>G (p.Lys279Glu) | |
| X | g.152867671A>T | CA415287010 | NSDHL | c.787A>T (p.Lys263Ter) c.835A>T (p.Lys279Ter) | |
| X | g.152867672A= | CA2466153923 | NSDHL | c.788A= (p.Lys263=) c.836A= (p.Lys279=) | |
| X | g.152867672A>C | CA415287012 | NSDHL | c.788A>C (p.Lys263Thr) c.836A>C (p.Lys279Thr) | dbSNP |
| X | g.152867672A>G | CA415287013 | NSDHL | c.788A>G (p.Lys263Arg) c.836A>G (p.Lys279Arg) | gnomAD v4 |
| X | g.152867672A>T | CA415287014 | NSDHL | c.788A>T (p.Lys263Met) c.836A>T (p.Lys279Met) | |
| X | g.152867673G>A | CA519157594 | NSDHL | c.789G>A (p.Lys263=) c.837G>A (p.Lys279=) | gnomAD v4 |
| X | g.152867673G>C | CA415287015 | NSDHL | c.789G>C (p.Lys263Asn) c.837G>C (p.Lys279Asn) | |
| X | g.152867673G>T | CA415287016 | NSDHL | c.789G>T (p.Lys263Asn) c.837G>T (p.Lys279Asn) | |
| X | g.152867674G>A | CA415287017 | NSDHL | c.789+1G>A (n.789+1G>A) c.837+1G>A (n.837+1G>A) | gnomAD v4 |
| X | g.152867674G>C | CA415287018 | NSDHL | c.789+1G>C (n.789+1G>C) c.837+1G>C (n.837+1G>C) | |
| X | g.152867674G>T | CA415287019 | NSDHL | c.789+1G>T (n.789+1G>T) c.837+1G>T (n.837+1G>T) | |
| X | g.152867675T>A | CA415287020 | NSDHL | c.789+2T>A (n.789+2T>A) c.837+2T>A (n.837+2T>A) | |
| X | g.152867675T>C | CA415287021 | NSDHL | c.789+2T>C (n.789+2T>C) c.837+2T>C (n.837+2T>C) | gnomAD v4 |
| X | g.152867675T>G | CA415287022 | NSDHL | c.789+2T>G (n.789+2T>G) c.837+2T>G (n.837+2T>G) | |
| X | g.152867676A>G | CA2694983379 | NSDHL | c.789+3A>G (n.789+3A>G) c.837+3A>G (n.837+3A>G) | gnomAD v4 |
| X | g.152867677del | CA2579725526 | NSDHL | c.789+4del (n.789+4del) c.837+4del (n.837+4del) | |
| X | g.152867678G>A | CA2694983380 | NSDHL | c.789+5G>A (n.789+5G>A) c.837+5G>A (n.837+5G>A) | gnomAD v4 |
| X | g.152867678G>C | CA10544836 | NSDHL | c.789+5G>C (n.789+5G>C) c.837+5G>C (n.837+5G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.152867678G= | CA2466153924 | NSDHL | c.789+5G= (n.789+5G=) c.837+5G= (n.837+5G=) | |
| X | g.152867678G>T | CA645215710 | NSDHL | c.789+5G>T (n.789+5G>T) c.837+5G>T (n.837+5G>T) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.152867679G>A | CA2694983381 | NSDHL | c.789+6G>A (n.789+6G>A) c.837+6G>A (n.837+6G>A) | gnomAD v4 |
| X | g.152867679G>T | CA2694983382 | NSDHL | c.789+6G>T (n.789+6G>T) c.837+6G>T (n.837+6G>T) | gnomAD v4 |
| X | g.152867680C>A | CA2694983383 | NSDHL | c.789+7C>A (n.789+7C>A) c.837+7C>A (n.837+7C>A) | gnomAD v4 |
| X | g.152867681C>A | CA2579725527 | NSDHL | c.789+8C>A (n.789+8C>A) c.837+8C>A (n.837+8C>A) | gnomAD v4 |
| X | g.152867681C= | CA2466153925 | NSDHL | c.789+8C= (n.789+8C=) c.837+8C= (n.837+8C=) | |
| X | g.152867681C>T | CA10544837 | NSDHL | c.789+8C>T (n.789+8C>T) c.837+8C>T (n.837+8C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.152867685_152867687del | CA2694983384 | NSDHL | c.789+12_789+14del (n.789+12_789+14del) c.837+12_837+14del (n.837+12_837+14del) | gnomAD v4 |
| X | g.152867682T>A | CA2694983385 | NSDHL | c.789+9T>A (n.789+9T>A) c.837+9T>A (n.837+9T>A) | gnomAD v4 |
| X | g.152867682T>C | CA2694983386 | NSDHL | c.789+9T>C (n.789+9T>C) c.837+9T>C (n.837+9T>C) | gnomAD v4 |
| X | g.152867683G>A | CA2694983387 | NSDHL | c.789+10G>A (n.789+10G>A) c.837+10G>A (n.837+10G>A) | gnomAD v4 |
| X | g.152867683G>C | CA2694983388 | NSDHL | c.789+10G>C (n.789+10G>C) c.837+10G>C (n.837+10G>C) | gnomAD v4 |
| X | g.152867684C>A | CA2694983389 | NSDHL | c.789+11C>A (n.789+11C>A) c.837+11C>A (n.837+11C>A) | gnomAD v4 |
| X | g.152867684C>T | CA2694983390 | NSDHL | c.789+11C>T (n.789+11C>T) c.837+11C>T (n.837+11C>T) | gnomAD v4 |
| X | g.152867685T>C | CA2694983391 | NSDHL | c.789+12T>C (n.789+12T>C) c.837+12T>C (n.837+12T>C) | gnomAD v4 |
| X | g.152867686G>A | CA2694983392 | NSDHL | c.789+13G>A (n.789+13G>A) c.837+13G>A (n.837+13G>A) | gnomAD v4 |
| X | g.152867686G>T | CA1138499125 | NSDHL | c.789+13G>T (n.789+13G>T) c.837+13G>T (n.837+13G>T) | gnomAD v3 gnomAD v4 |
| X | g.152867687C>A | CA2694983393 | NSDHL | c.789+14C>A (n.789+14C>A) c.837+14C>A (n.837+14C>A) | gnomAD v4 |
| X | g.152867687C= | CA2466153926 | NSDHL | c.789+14C= (n.789+14C=) c.837+14C= (n.837+14C=) | |
| X | g.152867687C>T | CA645215711 | NSDHL | c.789+14C>T (n.789+14C>T) c.837+14C>T (n.837+14C>T) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.152867688A= | CA2466153927 | NSDHL | c.789+15A= (n.789+15A=) c.837+15A= (n.837+15A=) | |
| X | g.152867688A>G | CA2466153928 | NSDHL | c.789+15A>G (n.789+15A>G) c.837+15A>G (n.837+15A>G) | dbSNP gnomAD v4 |
| X | g.152867688A>T | CA337613391 | NSDHL | c.789+15A>T (n.789+15A>T) c.837+15A>T (n.837+15A>T) | dbSNP gnomAD v4 |
| X | g.152867689C>A | CA2579725528 | NSDHL | c.789+16C>A (n.789+16C>A) c.837+16C>A (n.837+16C>A) | gnomAD v4 |
| X | g.152867689C= | CA2466153929 | NSDHL | c.789+16C= (n.789+16C=) c.837+16C= (n.837+16C=) | |
| X | g.152867689C>G | CA2694983395 | NSDHL | c.789+16C>G (n.789+16C>G) c.837+16C>G (n.837+16C>G) | gnomAD v4 |
| X | g.152867689C>T | CA337613394 | NSDHL | c.789+16C>T (n.789+16C>T) c.837+16C>T (n.837+16C>T) | dbSNP gnomAD v4 |
| X | g.152867689_152867690del | CA2694983394 | NSDHL | c.789+16_789+17del (n.789+16_789+17del) c.837+16_837+17del (n.837+16_837+17del) | gnomAD v4 |
| X | g.152867690C>A | CA2694983396 | NSDHL | c.789+17C>A (n.789+17C>A) c.837+17C>A (n.837+17C>A) | gnomAD v4 |
| X | g.152867690C= | CA2466153930 | NSDHL | c.789+17C= (n.789+17C=) c.837+17C= (n.837+17C=) | |
| X | g.152867690C>T | CA10544838 | NSDHL | c.789+17C>T (n.789+17C>T) c.837+17C>T (n.837+17C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.152867690_152867691insTGTGCAG | CA2694983397 | NSDHL | c.789+17_789+18insTGTGCAG (n.789+17_789+18insTGTGCAG) c.837+17_837+18insTGTGCAG (n.837+17_837+18insTGTGCAG) | gnomAD v4 |
| X | g.152867691G>A | CA10544839 | NSDHL | c.789+18G>A (n.789+18G>A) c.837+18G>A (n.837+18G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.152867691G= | CA2466153931 | NSDHL | c.789+18G= (n.789+18G=) c.837+18G= (n.837+18G=) | |
| X | g.152867691G>T | CA2694983398 | NSDHL | c.789+18G>T (n.789+18G>T) c.837+18G>T (n.837+18G>T) | gnomAD v4 |
| X | g.152867692G>A | CA2466153933 | NSDHL | c.789+19G>A (n.789+19G>A) c.837+19G>A (n.837+19G>A) | dbSNP gnomAD v4 |
| X | g.152867692G= | CA2466153932 | NSDHL | c.789+19G= (n.789+19G=) c.837+19G= (n.837+19G=) |