| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.189995318_189995344dup | CA2753298 | P3H2 | c.580_606dup (p.Leu202_Val203insThrAlaGlyValGluAlaLeuGlnLeu) c.37_63dup (p.Leu21_Val22insThrAlaGlyValGluAlaLeuGlnLeu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.189995343T>A | CA355759796 | P3H2 | c.580A>T (p.Thr194Ser) c.37A>T (p.Thr13Ser) | |
| 3 | g.189995343T>C | CA355759797 | P3H2 | c.580A>G (p.Thr194Ala) c.37A>G (p.Thr13Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.189995343T>G | CA355759798 | P3H2 | c.580A>C (p.Thr194Pro) c.37A>C (p.Thr13Pro) | |
| 3 | g.189995343T= | CA1428574678 | P3H2 | c.580A= (p.Thr194=) c.37A= (p.Thr13=) | |
| 3 | g.189995344C>A | CA437418278 | P3H2 | c.579G>T (p.Ala193=) c.36G>T (p.Ala12=) | gnomAD v4 |
| 3 | g.189995344C= | CA1428574682 | P3H2 | c.579G= (p.Ala193=) c.36G= (p.Ala12=) | |
| 3 | g.189995344C>G | CA437418279 | P3H2 | c.579G>C (p.Ala193=) c.36G>C (p.Ala12=) | |
| 3 | g.189995344C>T | CA2753303 | P3H2 | c.579G>A (p.Ala193=) c.36G>A (p.Ala12=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.189995345_189995346del | CA2577990539 | P3H2 | c.578_579del (p.Ala193AspfsTer5) c.35_36del (p.Ala12AspfsTer5) | |
| 3 | g.189995345G>A | CA2753304 | P3H2 | c.578C>T (p.Ala193Val) c.35C>T (p.Ala12Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.189995345G>C | CA355759799 | P3H2 | c.578C>G (p.Ala193Gly) c.35C>G (p.Ala12Gly) | |
| 3 | g.189995345G= | CA1428574685 | P3H2 | c.578C= (p.Ala193=) c.35C= (p.Ala12=) | |
| 3 | g.189995345G>T | CA355759800 | P3H2 | c.578C>A (p.Ala193Glu) c.35C>A (p.Ala12Glu) | dbSNP |
| 3 | g.189995346C>A | CA355759801 | P3H2 | c.577G>T (p.Ala193Ser) c.34G>T (p.Ala12Ser) | |
| 3 | g.189995346C>G | CA355759803 | P3H2 | c.577G>C (p.Ala193Pro) c.34G>C (p.Ala12Pro) | |
| 3 | g.189995346C>T | CA355759802 | P3H2 | c.577G>A (p.Ala193Thr) c.34G>A (p.Ala12Thr) | gnomAD v3 gnomAD v4 |
| 3 | g.189995347C>A | CA355759804 | P3H2 | c.576G>T (p.Arg192Ser) c.33G>T (p.Arg11Ser) | |
| 3 | g.189995347C>G | CA355759805 | P3H2 | c.576G>C (p.Arg192Ser) c.33G>C (p.Arg11Ser) | |
| 3 | g.189995347C>T | CA437418280 | P3H2 | c.576G>A (p.Arg192=) c.33G>A (p.Arg11=) | |
| 3 | g.189995348C>A | CA355759806 | P3H2 | c.575G>T (p.Arg192Met) c.32G>T (p.Arg11Met) | |
| 3 | g.189995348C>G | CA355759807 | P3H2 | c.575G>C (p.Arg192Thr) c.32G>C (p.Arg11Thr) | ClinVar gnomAD v4 |
| 3 | g.189995348C>T | CA355759808 | P3H2 | c.575G>A (p.Arg192Lys) c.32G>A (p.Arg11Lys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.189995349T>A | CA355759809 | P3H2 | c.574A>T (p.Arg192Trp) c.31A>T (p.Arg11Trp) | |
| 3 | g.189995349T>C | CA355759810 | P3H2 | c.574A>G (p.Arg192Gly) c.31A>G (p.Arg11Gly) | |
| 3 | g.189995349T>G | CA437418281 | P3H2 | c.574A>C (p.Arg192=) c.31A>C (p.Arg11=) | |
| 3 | g.189995352_189995363del | CA2704967480 | P3H2 | c.563_574del (p.Ile188_Tyr191del) c.20_31del (p.Ile7_Tyr10del) | dbSNP |
| 3 | g.189995350G>A | CA437418282 | P3H2 | c.573C>T (p.Tyr191=) c.30C>T (p.Tyr10=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.189995350G>C | CA355759811 | P3H2 | c.573C>G (p.Tyr191Ter) c.30C>G (p.Tyr10Ter) | |
| 3 | g.189995350G= | CA1428574688 | P3H2 | c.573C= (p.Tyr191=) c.30C= (p.Tyr10=) | |
| 3 | g.189995350G>T | CA355759812 | P3H2 | c.573C>A (p.Tyr191Ter) c.30C>A (p.Tyr10Ter) | gnomAD v4 |
| 3 | g.189995351T>A | CA355759813 | P3H2 | c.572A>T (p.Tyr191Phe) c.29A>T (p.Tyr10Phe) | |
| 3 | g.189995351T>C | CA355759814 | P3H2 | c.572A>G (p.Tyr191Cys) c.29A>G (p.Tyr10Cys) | |
| 3 | g.189995351T>G | CA355759815 | P3H2 | c.572A>C (p.Tyr191Ser) c.29A>C (p.Tyr10Ser) | |
| 3 | g.189995352A>C | CA355759816 | P3H2 | c.571T>G (p.Tyr191Asp) c.28T>G (p.Tyr10Asp) | |
| 3 | g.189995352A>G | CA355759818 | P3H2 | c.571T>C (p.Tyr191His) c.28T>C (p.Tyr10His) | |
| 3 | g.189995352A>T | CA355759817 | P3H2 | c.571T>A (p.Tyr191Asn) c.28T>A (p.Tyr10Asn) | |
| 3 | g.189995353A>C | CA355759819 | P3H2 | c.570T>G (p.Asn190Lys) c.27T>G (p.Asn9Lys) | |
| 3 | g.189995353A>G | CA437418283 | P3H2 | c.570T>C (p.Asn190=) c.27T>C (p.Asn9=) | |
| 3 | g.189995353A>T | CA355759820 | P3H2 | c.570T>A (p.Asn190Lys) c.27T>A (p.Asn9Lys) | |
| 3 | g.189995354T>A | CA355759821 | P3H2 | c.569A>T (p.Asn190Ile) c.26A>T (p.Asn9Ile) | |
| 3 | g.189995354T>C | CA355759822 | P3H2 | c.569A>G (p.Asn190Ser) c.26A>G (p.Asn9Ser) | gnomAD v4 |
| 3 | g.189995354T>G | CA355759823 | P3H2 | c.569A>C (p.Asn190Thr) c.26A>C (p.Asn9Thr) | |
| 3 | g.189995355T>A | CA355759824 | P3H2 | c.568A>T (p.Asn190Tyr) c.25A>T (p.Asn9Tyr) | |
| 3 | g.189995355T>C | CA2753305 | P3H2 | c.568A>G (p.Asn190Asp) c.25A>G (p.Asn9Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.189995355T>G | CA355759825 | P3H2 | c.568A>C (p.Asn190His) c.25A>C (p.Asn9His) | |
| 3 | g.189995355T= | CA1428574696 | P3H2 | c.568A= (p.Asn190=) c.25A= (p.Asn9=) | |
| 3 | g.189995356C>A | CA355759826 | P3H2 | c.567G>T (p.Glu189Asp) c.24G>T (p.Glu8Asp) | |
| 3 | g.189995356C>G | CA355759827 | P3H2 | c.567G>C (p.Glu189Asp) c.24G>C (p.Glu8Asp) | |
| 3 | g.189995356C>T | CA437418285 | P3H2 | c.567G>A (p.Glu189=) c.24G>A (p.Glu8=) | COSMIC |
| 3 | g.189995357T>A | CA355759828 | P3H2 | c.566A>T (p.Glu189Val) c.23A>T (p.Glu8Val) | |
| 3 | g.189995357T>C | CA355759829 | P3H2 | c.566A>G (p.Glu189Gly) c.23A>G (p.Glu8Gly) | |
| 3 | g.189995357T>G | CA355759830 | P3H2 | c.566A>C (p.Glu189Ala) c.23A>C (p.Glu8Ala) | |
| 3 | g.189995358C>A | CA355759832 | P3H2 | c.565G>T (p.Glu189Ter) c.22G>T (p.Glu8Ter) | |
| 3 | g.189995358C= | CA1428574700 | P3H2 | c.565G= (p.Glu189=) c.22G= (p.Glu8=) | |
| 3 | g.189995358C>G | CA355759831 | P3H2 | c.565G>C (p.Glu189Gln) c.22G>C (p.Glu8Gln) | COSMIC |
| 3 | g.189995358C>T | CA2753306 | P3H2 | c.565G>A (p.Glu189Lys) c.22G>A (p.Glu8Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.189995359A>C | CA355759833 | P3H2 | c.564T>G (p.Ile188Met) c.21T>G (p.Ile7Met) | gnomAD v4 |
| 3 | g.189995359A>G | CA437418287 | P3H2 | c.564T>C (p.Ile188=) c.21T>C (p.Ile7=) | |
| 3 | g.189995359A>T | CA437418288 | P3H2 | c.564T>A (p.Ile188=) c.21T>A (p.Ile7=) | |
| 3 | g.189995360A>C | CA355759834 | P3H2 | c.563T>G (p.Ile188Ser) c.20T>G (p.Ile7Ser) | |
| 3 | g.189995360A>G | CA355759835 | P3H2 | c.563T>C (p.Ile188Thr) c.20T>C (p.Ile7Thr) | |
| 3 | g.189995360A>T | CA355759836 | P3H2 | c.563T>A (p.Ile188Asn) c.20T>A (p.Ile7Asn) | |
| 3 | g.189995361T>A | CA355759837 | P3H2 | c.562A>T (p.Ile188Phe) c.19A>T (p.Ile7Phe) | |
| 3 | g.189995361T>C | CA2753307 | P3H2 | c.562A>G (p.Ile188Val) c.19A>G (p.Ile7Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.189995361T>G | CA355759838 | P3H2 | c.562A>C (p.Ile188Leu) c.19A>C (p.Ile7Leu) | |
| 3 | g.189995361T= | CA1428574711 | P3H2 | c.562A= (p.Ile188=) c.19A= (p.Ile7=) | |
| 3 | g.189995362G>A | CA437418289 | P3H2 | c.561C>T (p.Asn187=) c.18C>T (p.Asn6=) | dbSNP |
| 3 | g.189995362G>C | CA355759839 | P3H2 | c.561C>G (p.Asn187Lys) c.18C>G (p.Asn6Lys) | |
| 3 | g.189995362G= | CA1428574715 | P3H2 | c.561C= (p.Asn187=) c.18C= (p.Asn6=) | |
| 3 | g.189995362G>T | CA355759840 | P3H2 | c.561C>A (p.Asn187Lys) c.18C>A (p.Asn6Lys) | |
| 3 | g.189995363T>A | CA355759841 | P3H2 | c.560A>T (p.Asn187Ile) c.17A>T (p.Asn6Ile) | |
| 3 | g.189995363T>C | CA355759842 | P3H2 | c.560A>G (p.Asn187Ser) c.17A>G (p.Asn6Ser) | gnomAD v4 |
| 3 | g.189995363T>G | CA355759843 | P3H2 | c.560A>C (p.Asn187Thr) c.17A>C (p.Asn6Thr) | |
| 3 | g.189995364T>A | CA355759846 | P3H2 | c.559A>T (p.Asn187Tyr) c.16A>T (p.Asn6Tyr) | |
| 3 | g.189995364T>C | CA355759844 | P3H2 | c.559A>G (p.Asn187Asp) c.16A>G (p.Asn6Asp) | |
| 3 | g.189995364T>G | CA355759845 | P3H2 | c.559A>C (p.Asn187His) c.16A>C (p.Asn6His) | |
| 3 | g.189995365C>A | CA355759847 | P3H2 | c.558G>T (p.Gln186His) c.15G>T (p.Gln5His) | |
| 3 | g.189995365C= | CA1428574723 | P3H2 | c.558G= (p.Gln186=) c.15G= (p.Gln5=) | |
| 3 | g.189995365C>G | CA355759848 | P3H2 | c.558G>C (p.Gln186His) c.15G>C (p.Gln5His) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.189995365C>T | CA437418290 | P3H2 | c.558G>A (p.Gln186=) c.15G>A (p.Gln5=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.189995366T>A | CA355759849 | P3H2 | c.557A>T (p.Gln186Leu) c.14A>T (p.Gln5Leu) | |
| 3 | g.189995366T>C | CA355759850 | P3H2 | c.557A>G (p.Gln186Arg) c.14A>G (p.Gln5Arg) | |
| 3 | g.189995366T>G | CA355759851 | P3H2 | c.557A>C (p.Gln186Pro) c.14A>C (p.Gln5Pro) | dbSNP |
| 3 | g.189995366T= | CA1428574728 | P3H2 | c.557A= (p.Gln186=) c.14A= (p.Gln5=) | |
| 3 | g.189995367G>A | CA175051 | P3H2 | c.556C>T (p.Gln186Ter) c.13C>T (p.Gln5Ter) | ClinVar dbSNP gnomAD v4 |
| 3 | g.189995367G>C | CA355759852 | P3H2 | c.556C>G (p.Gln186Glu) c.13C>G (p.Gln5Glu) | |
| 3 | g.189995367G= | CA1428574732 | P3H2 | c.556C= (p.Gln186=) c.13C= (p.Gln5=) | |
| 3 | g.189995367G>T | CA355759853 | P3H2 | c.556C>A (p.Gln186Lys) c.13C>A (p.Gln5Lys) | |
| 3 | g.189995368C>A | CA2753308 | P3H2 | c.555G>T (p.Gln185His) c.12G>T (p.Gln4His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.189995368C= | CA1428574741 | P3H2 | c.555G= (p.Gln185=) c.12G= (p.Gln4=) | |
| 3 | g.189995368C>G | CA355759854 | P3H2 | c.555G>C (p.Gln185His) c.12G>C (p.Gln4His) | |
| 3 | g.189995368C>T | CA437418291 | P3H2 | c.555G>A (p.Gln185=) c.12G>A (p.Gln4=) | |
| 3 | g.189995369T>A | CA355759855 | P3H2 | c.554A>T (p.Gln185Leu) c.11A>T (p.Gln4Leu) | |
| 3 | g.189995369T>C | CA355759856 | P3H2 | c.554A>G (p.Gln185Arg) c.11A>G (p.Gln4Arg) | gnomAD v4 |
| 3 | g.189995369T>G | CA355759857 | P3H2 | c.554A>C (p.Gln185Pro) c.11A>C (p.Gln4Pro) | |
| 3 | g.189995370G>A | CA355759860 | P3H2 | c.553C>T (p.Gln185Ter) c.10C>T (p.Gln4Ter) | |
| 3 | g.189995370G>C | CA355759859 | P3H2 | c.553C>G (p.Gln185Glu) c.10C>G (p.Gln4Glu) | |
| 3 | g.189995370G>T | CA355759858 | P3H2 | c.553C>A (p.Gln185Lys) c.10C>A (p.Gln4Lys) | |
| 3 | g.189995371C>A | CA355759861 | P3H2 | c.552G>T (p.Met184Ile) c.9G>T (p.Met3Ile) | |
| 3 | g.189995371C>G | CA355759862 | P3H2 | c.552G>C (p.Met184Ile) c.9G>C (p.Met3Ile) | |
| 3 | g.189995371C>T | CA355759863 | P3H2 | c.552G>A (p.Met184Ile) c.9G>A (p.Met3Ile) | |
| 3 | g.189995372A= | CA1428574747 | P3H2 | c.551T= (p.Met184=) c.8T= (p.Met3=) | |
| 3 | g.189995372A>C | CA355759864 | P3H2 | c.551T>G (p.Met184Arg) c.8T>G (p.Met3Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.189995372A>G | CA355759865 | P3H2 | c.551T>C (p.Met184Thr) c.8T>C (p.Met3Thr) | |
| 3 | g.189995372A>T | CA355759866 | P3H2 | c.551T>A (p.Met184Lys) c.8T>A (p.Met3Lys) | |
| 3 | g.189995373T>A | CA355759867 | P3H2 | c.550A>T (p.Met184Leu) c.7A>T (p.Met3Leu) | |
| 3 | g.189995373T>C | CA355759868 | P3H2 | c.550A>G (p.Met184Val) c.7A>G (p.Met3Val) | gnomAD v4 |
| 3 | g.189995373T>G | CA355759869 | P3H2 | c.550A>C (p.Met184Leu) c.7A>C (p.Met3Leu) | |
| 3 | g.189995374T>A | CA355759870 | P3H2 | c.549A>T (p.Glu183Asp) c.6A>T (p.Glu2Asp) | |
| 3 | g.189995374T>C | CA437418292 | P3H2 | c.549A>G (p.Glu183=) c.6A>G (p.Glu2=) | |
| 3 | g.189995374T>G | CA355759871 | P3H2 | c.549A>C (p.Glu183Asp) c.6A>C (p.Glu2Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.189995374T= | CA1428574751 | P3H2 | c.549A= (p.Glu183=) c.6A= (p.Glu2=) | |
| 3 | g.189995375T>A | CA89743112 | P3H2 | c.548A>T (p.Glu183Val) c.5A>T (p.Glu2Val) | dbSNP |
| 3 | g.189995375T>C | CA355759872 | P3H2 | c.548A>G (p.Glu183Gly) c.5A>G (p.Glu2Gly) | |
| 3 | g.189995375T>G | CA355759873 | P3H2 | c.548A>C (p.Glu183Ala) c.5A>C (p.Glu2Ala) | |
| 3 | g.189995375T= | CA1428574755 | P3H2 | c.548A= (p.Glu183=) c.5A= (p.Glu2=) | |
| 3 | g.189995376C>A | CA355759875 | P3H2 | c.547G>T (p.Glu183Ter) c.4G>T (p.Glu2Ter) | |
| 3 | g.189995376C= | CA1428574758 | P3H2 | c.547G= (p.Glu183=) c.4G= (p.Glu2=) | |
| 3 | g.189995376C>G | CA2753309 | P3H2 | c.547G>C (p.Glu183Gln) c.4G>C (p.Glu2Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.189995376C>T | CA355759874 | P3H2 | c.547G>A (p.Glu183Lys) c.4G>A (p.Glu2Lys) | gnomAD v4 COSMIC |
| 3 | g.189995377C>A | CA355759876 | P3H2 | c.546G>T (p.Met182Ile) c.3G>T (p.Met1Ile) | |
| 3 | g.189995377C= | CA1428574765 | P3H2 | c.546G= (p.Met182=) c.3G= (p.Met1=) | |
| 3 | g.189995377C>G | CA355759877 | P3H2 | c.546G>C (p.Met182Ile) c.3G>C (p.Met1Ile) | |
| 3 | g.189995377C>T | CA355759878 | P3H2 | c.546G>A (p.Met182Ile) c.3G>A (p.Met1Ile) | dbSNP gnomAD v4 |
| 3 | g.189995378A= | CA1428574770 | P3H2 | c.545T= (p.Met182=) c.2T= (p.Met1=) | |
| 3 | g.189995378A>C | CA355759879 | P3H2 | c.545T>G (p.Met182Arg) c.2T>G (p.Met1Arg) | |
| 3 | g.189995378A>G | CA355759880 | P3H2 | c.545T>C (p.Met182Thr) c.2T>C (p.Met1Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.189995378A>T | CA355759881 | P3H2 | c.545T>A (p.Met182Lys) c.2T>A (p.Met1Lys) | |
| 3 | g.189995379T>A | CA355759882 | P3H2 | c.544A>T (p.Met182Leu) c.1A>T (p.Met1Leu) | |
| 3 | g.189995379T>C | CA2753310 | P3H2 | c.544A>G (p.Met182Val) c.1A>G (p.Met1Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.189995379T>G | CA2753311 | P3H2 | c.544A>C (p.Met182Leu) c.1A>C (p.Met1Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.189995379T= | CA1428574777 | P3H2 | c.544A= (p.Met182=) c.1A= (p.Met1=) | |
| 3 | g.189995380G>A | CA437418295 | P3H2 | c.543C>T (p.His181=) c.-1C>T (n.-1C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.189995380G>C | CA355759883 | P3H2 | c.543C>G (p.His181Gln) c.-1C>G (n.-1C>G) | |
| 3 | g.189995380G= | CA1428574782 | P3H2 | c.543C= (p.His181=) c.-1C= (n.-1C=) | |
| 3 | g.189995380G>T | CA355759884 | P3H2 | c.543C>A (p.His181Gln) c.-1C>A (n.-1C>A) | |
| 3 | g.189995381T>A | CA355759885 | P3H2 | c.542A>T (p.His181Leu) c.-2A>T (n.-2A>T) | |
| 3 | g.189995381T>C | CA355759886 | P3H2 | c.542A>G (p.His181Arg) c.-2A>G (n.-2A>G) | |
| 3 | g.189995381T>G | CA355759887 | P3H2 | c.542A>C (p.His181Pro) c.-2A>C (n.-2A>C) | |
| 3 | g.189995382G>A | CA355759888 | P3H2 | c.541C>T (p.His181Tyr) c.-3C>T (n.-3C>T) | |
| 3 | g.189995382G>C | CA355759890 | P3H2 | c.541C>G (p.His181Asp) c.-3C>G (n.-3C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.189995382G= | CA1428574789 | P3H2 | c.541C= (p.His181=) c.-3C= (n.-3C=) | |
| 3 | g.189995382G>T | CA355759889 | P3H2 | c.541C>A (p.His181Asn) c.-3C>A (n.-3C>A) | |
| 3 | g.189995383C>A | CA355759891 | P3H2 | c.540G>T (p.Glu180Asp) c.-4G>T (n.-4G>T) | |
| 3 | g.189995383C= | CA1428574793 | P3H2 | c.540G= (p.Glu180=) c.-4G= (n.-4G=) | |
| 3 | g.189995383C>G | CA355759892 | P3H2 | c.540G>C (p.Glu180Asp) c.-4G>C (n.-4G>C) | |
| 3 | g.189995383C>T | CA437418296 | P3H2 | c.540G>A (p.Glu180=) c.-4G>A (n.-4G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.189995384T>A | CA355759893 | P3H2 | c.539A>T (p.Glu180Val) c.-5A>T (n.-5A>T) | |
| 3 | g.189995384T>C | CA355759894 | P3H2 | c.539A>G (p.Glu180Gly) c.-5A>G (n.-5A>G) | |
| 3 | g.189995384T>G | CA355759895 | P3H2 | c.539A>C (p.Glu180Ala) c.-5A>C (n.-5A>C) | |
| 3 | g.189995385C>A | CA355759896 | P3H2 | c.538G>T (p.Glu180Ter) c.-6G>T (n.-6G>T) | |
| 3 | g.189995385C>G | CA355759897 | P3H2 | c.538G>C (p.Glu180Gln) c.-6G>C (n.-6G>C) | |
| 3 | g.189995385C>T | CA355759898 | P3H2 | c.538G>A (p.Glu180Lys) c.-6G>A (n.-6G>A) | |
| 3 | g.189995386A>C | CA437418297 | P3H2 | c.537T>G (p.Pro179=) c.-7T>G (n.-7T>G) | |
| 3 | g.189995386A>G | CA437418299 | P3H2 | c.537T>C (p.Pro179=) c.-7T>C (n.-7T>C) | |
| 3 | g.189995386A>T | CA437418298 | P3H2 | c.537T>A (p.Pro179=) c.-7T>A (n.-7T>A) | |
| 3 | g.189995387G>A | CA355759899 | P3H2 | c.536C>T (p.Pro179Leu) c.-8C>T (n.-8C>T) | COSMIC |
| 3 | g.189995387G>C | CA355759900 | P3H2 | c.536C>G (p.Pro179Arg) c.-8C>G (n.-8C>G) | |
| 3 | g.189995387G>T | CA355759901 | P3H2 | c.536C>A (p.Pro179His) c.-8C>A (n.-8C>A) | gnomAD v4 |
| 3 | g.189995388G>A | CA355759902 | P3H2 | c.535C>T (p.Pro179Ser) c.-9C>T (n.-9C>T) | |
| 3 | g.189995388G>C | CA355759904 | P3H2 | c.535C>G (p.Pro179Ala) c.-9C>G (n.-9C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.189995388G= | CA1428574799 | P3H2 | c.535C= (p.Pro179=) c.-9C= (n.-9C=) | |
| 3 | g.189995388G>T | CA355759903 | P3H2 | c.535C>A (p.Pro179Thr) c.-9C>A (n.-9C>A) | gnomAD v4 |
| 3 | g.189995389G>A | CA437418300 | P3H2 | c.534C>T (p.Asn178=) c.-10C>T (n.-10C>T) | |
| 3 | g.189995389G>C | CA355759905 | P3H2 | c.534C>G (p.Asn178Lys) c.-10C>G (n.-10C>G) | |
| 3 | g.189995389G= | CA1428574803 | P3H2 | c.534C= (p.Asn178=) c.-10C= (n.-10C=) | |
| 3 | g.189995389G>T | CA2753312 | P3H2 | c.534C>A (p.Asn178Lys) c.-10C>A (n.-10C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.189995390T>A | CA355759906 | P3H2 | c.533A>T (p.Asn178Ile) c.-11A>T (n.-11A>T) | |
| 3 | g.189995390T>C | CA355759908 | P3H2 | c.533A>G (p.Asn178Ser) c.-11A>G (n.-11A>G) | |
| 3 | g.189995390T>G | CA355759907 | P3H2 | c.533A>C (p.Asn178Thr) c.-11A>C (n.-11A>C) | gnomAD v4 |
| 3 | g.189995391T>A | CA355759909 | P3H2 | c.532A>T (p.Asn178Tyr) c.-12A>T (n.-12A>T) | |
| 3 | g.189995391T>C | CA355759910 | P3H2 | c.532A>G (p.Asn178Asp) c.-12A>G (n.-12A>G) | gnomAD v4 |
| 3 | g.189995391T>G | CA355759911 | P3H2 | c.532A>C (p.Asn178His) c.-12A>C (n.-12A>C) | |
| 3 | g.189995392A>C | CA437418301 | P3H2 | c.531T>G (p.Ala177=) c.-13T>G (n.-13T>G) | |
| 3 | g.189995392A>G | CA437418302 | P3H2 | c.531T>C (p.Ala177=) c.-13T>C (n.-13T>C) | |
| 3 | g.189995392A>T | CA437418303 | P3H2 | c.531T>A (p.Ala177=) c.-13T>A (n.-13T>A) | |
| 3 | g.189995393G>A | CA355759912 | P3H2 | c.530C>T (p.Ala177Val) c.-14C>T (n.-14C>T) | |
| 3 | g.189995393G>C | CA355759913 | P3H2 | c.530C>G (p.Ala177Gly) c.-14C>G (n.-14C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.189995393G= | CA1428574812 | P3H2 | c.530C= (p.Ala177=) c.-14C= (n.-14C=) | |
| 3 | g.189995393G>T | CA355759914 | P3H2 | c.530C>A (p.Ala177Asp) c.-14C>A (n.-14C>A) | |
| 3 | g.189995394C>A | CA2753313 | P3H2 | c.529G>T (p.Ala177Ser) c.-15G>T (n.-15G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.189995394C= | CA1428574821 | P3H2 | c.529G= (p.Ala177=) c.-15G= (n.-15G=) | |
| 3 | g.189995394C>G | CA355759915 | P3H2 | c.529G>C (p.Ala177Pro) c.-15G>C (n.-15G>C) | gnomAD v4 |
| 3 | g.189995394C>T | CA355759916 | P3H2 | c.529G>A (p.Ala177Thr) c.-15G>A (n.-15G>A) | |
| 3 | g.189995395C>A | CA437418304 | P3H2 | c.528G>T (p.Val176=) c.-16G>T (n.-16G>T) | COSMIC |
| 3 | g.189995395C= | CA1428574830 | P3H2 | c.528G= (p.Val176=) c.-16G= (n.-16G=) | |
| 3 | g.189995395C>G | CA437418305 | P3H2 | c.528G>C (p.Val176=) c.-16G>C (n.-16G>C) | |
| 3 | g.189995395C>T | CA2753314 | P3H2 | c.528G>A (p.Val176=) c.-16G>A (n.-16G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.189995396A>C | CA355759919 | P3H2 | c.527T>G (p.Val176Gly) c.-17T>G (n.-17T>G) | |
| 3 | g.189995396A>G | CA355759918 | P3H2 | c.527T>C (p.Val176Ala) c.-17T>C (n.-17T>C) | |
| 3 | g.189995396A>T | CA355759917 | P3H2 | c.527T>A (p.Val176Glu) c.-17T>A (n.-17T>A) | |
| 3 | g.189995397C>A | CA355759920 | P3H2 | c.526G>T (p.Val176Leu) c.-18G>T (n.-18G>T) | gnomAD v4 COSMIC |
| 3 | g.189995397C= | CA1428574839 | P3H2 | c.526G= (p.Val176=) c.-18G= (n.-18G=) | |
| 3 | g.189995397C>G | CA2753315 | P3H2 | c.526G>C (p.Val176Leu) c.-18G>C (n.-18G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.189995397C>T | CA2753316 | P3H2 | c.526G>A (p.Val176Met) c.-18G>A (n.-18G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.189995398G>A | CA2753317 | P3H2 | c.525C>T (p.Phe175=) c.-19C>T (n.-19C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.189995398G>C | CA355759921 | P3H2 | c.525C>G (p.Phe175Leu) c.-19C>G (n.-19C>G) | |
| 3 | g.189995398G= | CA1428574847 | P3H2 | c.525C= (p.Phe175=) c.-19C= (n.-19C=) | |
| 3 | g.189995398G>T | CA355759922 | P3H2 | c.525C>A (p.Phe175Leu) c.-19C>A (n.-19C>A) | gnomAD v4 |
| 3 | g.189995399A>C | CA355759923 | P3H2 | c.524T>G (p.Phe175Cys) c.-20T>G (n.-20T>G) | |
| 3 | g.189995399A>G | CA355759924 | P3H2 | c.524T>C (p.Phe175Ser) c.-20T>C (n.-20T>C) | |
| 3 | g.189995399A>T | CA355759925 | P3H2 | c.524T>A (p.Phe175Tyr) c.-20T>A (n.-20T>A) | |
| 3 | g.189995403dup | CA645515680 | P3H2 | c.524dup (p.Val176ArgfsTer3) c.-20dup (n.-20dup) | gnomAD v4 COSMIC |
| 3 | g.189995403del | CA2669049784 | P3H2 | c.524del (p.Phe175SerfsTer29) c.-20del (n.-20del) | gnomAD v4 |
| 3 | g.189995399_189995400insT | CA437418308 | P3H2 | c.523_524insA (p.Phe175TyrfsTer4) c.-21_-20insA (n.-21_-20insA) | |
| 3 | g.189995400A>C | CA355759926 | P3H2 | c.523T>G (p.Phe175Val) c.-21T>G (n.-21T>G) | |
| 3 | g.189995400A>G | CA355759927 | P3H2 | c.523T>C (p.Phe175Leu) c.-21T>C (n.-21T>C) | |
| 3 | g.189995400A>T | CA355759928 | P3H2 | c.523T>A (p.Phe175Ile) c.-21T>A (n.-21T>A) | |
| 3 | g.189995401A= | CA1428574852 | P3H2 | c.522T= (p.Phe174=) c.-22T= (n.-22T=) | |
| 3 | g.189995401A>C | CA355759930 | P3H2 | c.522T>G (p.Phe174Leu) c.-22T>G (n.-22T>G) | |
| 3 | g.189995401A>G | CA437418309 | P3H2 | c.522T>C (p.Phe174=) c.-22T>C (n.-22T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.189995401A>T | CA355759929 | P3H2 | c.522T>A (p.Phe174Leu) c.-22T>A (n.-22T>A) | |
| 3 | g.189995402A>C | CA355759931 | P3H2 | c.521T>G (p.Phe174Cys) c.-23T>G (n.-23T>G) | |
| 3 | g.189995402A>G | CA355759932 | P3H2 | c.521T>C (p.Phe174Ser) c.-23T>C (n.-23T>C) | |
| 3 | g.189995402A>T | CA355759933 | P3H2 | c.521T>A (p.Phe174Tyr) c.-23T>A (n.-23T>A) | |
| 3 | g.189995403A>C | CA355759934 | P3H2 | c.520T>G (p.Phe174Val) c.-24T>G (n.-24T>G) | |
| 3 | g.189995403A>G | CA355759935 | P3H2 | c.520T>C (p.Phe174Leu) c.-24T>C (n.-24T>C) | |
| 3 | g.189995403A>T | CA355759936 | P3H2 | c.520T>A (p.Phe174Ile) c.-24T>A (n.-24T>A) | |
| 3 | g.189995404T>A | CA437418311 | P3H2 | c.519A>T (p.Thr173=) c.-25A>T (n.-25A>T) | |
| 3 | g.189995404T>C | CA2753318 | P3H2 | c.519A>G (p.Thr173=) c.-25A>G (n.-25A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.189995404T>G | CA437418310 | P3H2 | c.519A>C (p.Thr173=) c.-25A>C (n.-25A>C) | |
| 3 | g.189995404T= | CA1428574854 | P3H2 | c.519A= (p.Thr173=) c.-25A= (n.-25A=) | |
| 3 | g.189995405G>A | CA355759937 | P3H2 | c.518C>T (p.Thr173Ile) c.-26C>T (n.-26C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.189995405G>C | CA2753319 | P3H2 | c.518C>G (p.Thr173Arg) c.-26C>G (n.-26C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.189995405G= | CA1428574856 | P3H2 | c.518C= (p.Thr173=) c.-26C= (n.-26C=) | |
| 3 | g.189995405G>T | CA355759938 | P3H2 | c.518C>A (p.Thr173Lys) c.-26C>A (n.-26C>A) | |
| 3 | g.189995406T>A | CA355759939 | P3H2 | c.517A>T (p.Thr173Ser) c.-27A>T (n.-27A>T) | |
| 3 | g.189995406T>C | CA355759940 | P3H2 | c.517A>G (p.Thr173Ala) c.-27A>G (n.-27A>G) | |
| 3 | g.189995406T>G | CA355759941 | P3H2 | c.517A>C (p.Thr173Pro) c.-27A>C (n.-27A>C) | |
| 3 | g.189995407G>A | CA2753320 | P3H2 | c.516C>T (p.His172=) c.-28C>T (n.-28C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.189995407G>C | CA355759942 | P3H2 | c.516C>G (p.His172Gln) c.-28C>G (n.-28C>G) | |
| 3 | g.189995407G= | CA1428574859 | P3H2 | c.516C= (p.His172=) c.-28C= (n.-28C=) | |
| 3 | g.189995407G>T | CA89743177 | P3H2 | c.516C>A (p.His172Gln) c.-28C>A (n.-28C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.189995408T>A | CA355759943 | P3H2 | c.515A>T (p.His172Leu) c.-29A>T (n.-29A>T) | dbSNP gnomAD v4 |
| 3 | g.189995408T>C | CA355759944 | P3H2 | c.515A>G (p.His172Arg) c.-29A>G (n.-29A>G) | |
| 3 | g.189995408T>G | CA355759945 | P3H2 | c.515A>C (p.His172Pro) c.-29A>C (n.-29A>C) | |
| 3 | g.189995408T= | CA1428574863 | P3H2 | c.515A= (p.His172=) c.-29A= (n.-29A=) | |
| 3 | g.189995409G>A | CA355759946 | P3H2 | c.514C>T (p.His172Tyr) c.-30C>T (n.-30C>T) | dbSNP gnomAD v4 |
| 3 | g.189995409G>C | CA355759947 | P3H2 | c.514C>G (p.His172Asp) c.-30C>G (n.-30C>G) | ClinVar dbSNP gnomAD v4 |
| 3 | g.189995409G= | CA1428574871 | P3H2 | c.514C= (p.His172=) c.-30C= (n.-30C=) | |
| 3 | g.189995409G>T | CA355759948 | P3H2 | c.514C>A (p.His172Asn) c.-30C>A (n.-30C>A) | |
| 3 | g.189995410A= | CA1428574877 | P3H2 | c.513T= (p.Ala171=) c.-31T= (n.-31T=) | |
| 3 | g.189995410A>C | CA437418312 | P3H2 | c.513T>G (p.Ala171=) c.-31T>G (n.-31T>G) | |
| 3 | g.189995410A>G | CA437418313 | P3H2 | c.513T>C (p.Ala171=) c.-31T>C (n.-31T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.189995410A>T | CA89743186 | P3H2 | c.513T>A (p.Ala171=) c.-31T>A (n.-31T>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.189995411G>A | CA355759949 | P3H2 | c.512C>T (p.Ala171Val) c.-32C>T (n.-32C>T) | |
| 3 | g.189995411G>C | CA2753321 | P3H2 | c.512C>G (p.Ala171Gly) c.-32C>G (n.-32C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.189995411G= | CA1428574882 | P3H2 | c.512C= (p.Ala171=) c.-32C= (n.-32C=) | |
| 3 | g.189995411G>T | CA355759950 | P3H2 | c.512C>A (p.Ala171Asp) c.-32C>A (n.-32C>A) | |
| 3 | g.189995412C>A | CA355759951 | P3H2 | c.511G>T (p.Ala171Ser) c.-33G>T (n.-33G>T) | |
| 3 | g.189995412C>G | CA355759952 | P3H2 | c.511G>C (p.Ala171Pro) c.-33G>C (n.-33G>C) | |
| 3 | g.189995412C>T | CA355759953 | P3H2 | c.511G>A (p.Ala171Thr) c.-33G>A (n.-33G>A) | gnomAD v4 |
| 3 | g.189995413T>A | CA437418316 | P3H2 | c.510A>T (p.Ala170=) c.-34A>T (n.-34A>T) | |
| 3 | g.189995413T>C | CA437418314 | P3H2 | c.510A>G (p.Ala170=) c.-34A>G (n.-34A>G) | dbSNP |
| 3 | g.189995413T>G | CA437418315 | P3H2 | c.510A>C (p.Ala170=) c.-34A>C (n.-34A>C) | |
| 3 | g.189995413T= | CA1428574893 | P3H2 | c.510A= (p.Ala170=) c.-34A= (n.-34A=) | |
| 3 | g.189995414G>A | CA355759955 | P3H2 | c.509C>T (p.Ala170Val) c.-35C>T (n.-35C>T) | gnomAD v4 |
| 3 | g.189995414G>C | CA355759956 | P3H2 | c.509C>G (p.Ala170Gly) c.-35C>G (n.-35C>G) | |
| 3 | g.189995414G= | CA1428574898 | P3H2 | c.509C= (p.Ala170=) c.-35C= (n.-35C=) | |
| 3 | g.189995414G>T | CA355759954 | P3H2 | c.509C>A (p.Ala170Glu) c.-35C>A (n.-35C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.189995415C>A | CA355759958 | P3H2 | c.508G>T (p.Ala170Ser) c.-36G>T (n.-36G>T) | |
| 3 | g.189995415C= | CA1428574902 | P3H2 | c.508G= (p.Ala170=) c.-36G= (n.-36G=) | |
| 3 | g.189995415C>G | CA355759957 | P3H2 | c.508G>C (p.Ala170Pro) c.-36G>C (n.-36G>C) | |
| 3 | g.189995415C>T | CA2753322 | P3H2 | c.508G>A (p.Ala170Thr) c.-36G>A (n.-36G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.189995416T>A | CA355759959 | P3H2 | c.507A>T (p.Glu169Asp) c.-37A>T (n.-37A>T) | dbSNP |
| 3 | g.189995416T>C | CA2753323 | P3H2 | c.507A>G (p.Glu169=) c.-37A>G (n.-37A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.189995416T>G | CA355759960 | P3H2 | c.507A>C (p.Glu169Asp) c.-37A>C (n.-37A>C) | |
| 3 | g.189995416T= | CA1428574921 | P3H2 | c.507A= (p.Glu169=) c.-37A= (n.-37A=) | |
| 3 | g.189995417T>A | CA2753324 | P3H2 | c.506A>T (p.Glu169Val) c.-38A>T (n.-38A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.189995417T>C | CA355759961 | P3H2 | c.506A>G (p.Glu169Gly) c.-38A>G (n.-38A>G) | |
| 3 | g.189995417T>G | CA355759962 | P3H2 | c.506A>C (p.Glu169Ala) c.-38A>C (n.-38A>C) | |
| 3 | g.189995417T= | CA1428574926 | P3H2 | c.506A= (p.Glu169=) c.-38A= (n.-38A=) | |
| 3 | g.189995418C>A | CA355759963 | P3H2 | c.505G>T (p.Glu169Ter) c.-39G>T (n.-39G>T) | |
| 3 | g.189995418C= | CA1428574930 | P3H2 | c.505G= (p.Glu169=) c.-39G= (n.-39G=) | |
| 3 | g.189995418C>G | CA355759964 | P3H2 | c.505G>C (p.Glu169Gln) c.-39G>C (n.-39G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.189995418C>T | CA355759965 | P3H2 | c.505G>A (p.Glu169Lys) c.-39G>A (n.-39G>A) | |
| 3 | g.189995419C>A | CA437418319 | P3H2 | c.504G>T (p.Val168=) c.-40G>T (n.-40G>T) | |
| 3 | g.189995419C= | CA1428574933 | P3H2 | c.504G= (p.Val168=) c.-40G= (n.-40G=) | |
| 3 | g.189995419C>G | CA437418317 | P3H2 | c.504G>C (p.Val168=) c.-40G>C (n.-40G>C) | dbSNP |
| 3 | g.189995419C>T | CA437418318 | P3H2 | c.504G>A (p.Val168=) c.-40G>A (n.-40G>A) | |
| 3 | g.189995420A>C | CA355759968 | P3H2 | c.503T>G (p.Val168Gly) c.-41T>G (n.-41T>G) | |
| 3 | g.189995420A>G | CA355759967 | P3H2 | c.503T>C (p.Val168Ala) c.-41T>C (n.-41T>C) | |
| 3 | g.189995420A>T | CA355759966 | P3H2 | c.503T>A (p.Val168Glu) c.-41T>A (n.-41T>A) | |
| 3 | g.189995421C>A | CA355759969 | P3H2 | c.502G>T (p.Val168Leu) c.-42G>T (n.-42G>T) | |
| 3 | g.189995421C>G | CA355759970 | P3H2 | c.502G>C (p.Val168Leu) c.-42G>C (n.-42G>C) | |
| 3 | g.189995421C>T | CA355759971 | P3H2 | c.502G>A (p.Val168Met) c.-42G>A (n.-42G>A) | |
| 3 | g.189995421_189995428delinsCTGCTTTT | CA1428574935 | P3H2 | c.495_502delinsAAAAGCAG (p.Glu165=) c.-49_-42delinsAAAAGCAG (n.-49_-42delinsAAAAGCAG) | |
| 3 | g.189995421_189995431delinsCTGCTTTTTCG | CA1428574934 | P3H2 | c.492_502delinsCGAAAAAGCAG (p.Leu164=) c.-52_-42delinsCGAAAAAGCAG (n.-52_-42delinsCGAAAAAGCAG) | |
| 3 | g.189995422T>A | CA89743252 | P3H2 | c.501A>T (p.Ala167=) c.-43A>T (n.-43A>T) | dbSNP gnomAD v4 |
| 3 | g.189995422T>C | CA437418320 | P3H2 | c.501A>G (p.Ala167=) c.-43A>G (n.-43A>G) | |
| 3 | g.189995422T>G | CA437418321 | P3H2 | c.501A>C (p.Ala167=) c.-43A>C (n.-43A>C) | |
| 3 | g.189995422T= | CA1428574943 | P3H2 | c.501A= (p.Ala167=) c.-43A= (n.-43A=) | |
| 3 | g.189995422_189995423delinsAA | CA2573136837 | P3H2 | c.500_501delinsTT (p.Ala167Val) c.-44_-43delinsTT (n.-44_-43delinsTT) | ClinVar dbSNP |
| 3 | g.189995423_189995429del | CA904217773 | P3H2 | c.495_501del (p.Lys166TrpfsTer?) c.-49_-43del (n.-49_-43del) | dbSNP |
| 3 | g.189995422_189995431del | CA2753325 | P3H2 | c.492_501del (p.Glu165TrpfsTer?) c.-52_-43del (n.-52_-43del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.189995423G>A | CA89743269 | P3H2 | c.500C>T (p.Ala167Val) c.-44C>T (n.-44C>T) | dbSNP gnomAD v4 |
| 3 | g.189995423G>C | CA355759972 | P3H2 | c.500C>G (p.Ala167Gly) c.-44C>G (n.-44C>G) | |
| 3 | g.189995423G= | CA1428574948 | P3H2 | c.500C= (p.Ala167=) c.-44C= (n.-44C=) | |
| 3 | g.189995423G>T | CA355759973 | P3H2 | c.500C>A (p.Ala167Glu) c.-44C>A (n.-44C>A) | gnomAD v4 |
| 3 | g.189995424C>A | CA355759974 | P3H2 | c.499G>T (p.Ala167Ser) c.-45G>T (n.-45G>T) | |
| 3 | g.189995424C>G | CA355759975 | P3H2 | c.499G>C (p.Ala167Pro) c.-45G>C (n.-45G>C) | ClinVar dbSNP gnomAD v4 |
| 3 | g.189995424C>T | CA355759976 | P3H2 | c.499G>A (p.Ala167Thr) c.-45G>A (n.-45G>A) | gnomAD v4 |
| 3 | g.189995425T>A | CA355759977 | P3H2 | c.498A>T (p.Lys166Asn) c.-46A>T (n.-46A>T) | |
| 3 | g.189995425T>C | CA437418322 | P3H2 | c.498A>G (p.Lys166=) c.-46A>G (n.-46A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.189995425T>G | CA355759978 | P3H2 | c.498A>C (p.Lys166Asn) c.-46A>C (n.-46A>C) | |
| 3 | g.189995425T= | CA1428574954 | P3H2 | c.498A= (p.Lys166=) c.-46A= (n.-46A=) | |
| 3 | g.189995429del | CA2669049785 | P3H2 | c.498del (p.Ala167GlnfsTer?) c.-46del (n.-46del) | gnomAD v4 |
| 3 | g.189995426T>A | CA355759980 | P3H2 | c.497A>T (p.Lys166Ile) c.-47A>T (n.-47A>T) | |
| 3 | g.189995426T>C | CA355759981 | P3H2 | c.497A>G (p.Lys166Arg) c.-47A>G (n.-47A>G) | |
| 3 | g.189995426T>G | CA355759979 | P3H2 | c.497A>C (p.Lys166Thr) c.-47A>C (n.-47A>C) | |
| 3 | g.189995427T>A | CA355759982 | P3H2 | c.496A>T (p.Lys166Ter) c.-48A>T (n.-48A>T) | |
| 3 | g.189995427T>C | CA355759983 | P3H2 | c.496A>G (p.Lys166Glu) c.-48A>G (n.-48A>G) | |
| 3 | g.189995427T>G | CA355759984 | P3H2 | c.496A>C (p.Lys166Gln) c.-48A>C (n.-48A>C) | |
| 3 | g.189995428T>A | CA355759985 | P3H2 | c.495A>T (p.Glu165Asp) c.-49A>T (n.-49A>T) | |
| 3 | g.189995428T>C | CA437418323 | P3H2 | c.495A>G (p.Glu165=) c.-49A>G (n.-49A>G) | |
| 3 | g.189995428T>G | CA355759986 | P3H2 | c.495A>C (p.Glu165Asp) c.-49A>C (n.-49A>C) | |
| 3 | g.189995429T>A | CA355759987 | P3H2 | c.494A>T (p.Glu165Val) c.-50A>T (n.-50A>T) | dbSNP |
| 3 | g.189995429T>C | CA2753326 | P3H2 | c.494A>G (p.Glu165Gly) c.-50A>G (n.-50A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.189995429T>G | CA355759988 | P3H2 | c.494A>C (p.Glu165Ala) c.-50A>C (n.-50A>C) | |
| 3 | g.189995429T= | CA1428574962 | P3H2 | c.494A= (p.Glu165=) c.-50A= (n.-50A=) | |
| 3 | g.189995430C>A | CA89743270 | P3H2 | c.493G>T (p.Glu165Ter) c.-51G>T (n.-51G>T) | dbSNP gnomAD v4 |
| 3 | g.189995430C= | CA1428574967 | P3H2 | c.493G= (p.Glu165=) c.-51G= (n.-51G=) | |
| 3 | g.189995430C>G | CA355759989 | P3H2 | c.493G>C (p.Glu165Gln) c.-51G>C (n.-51G>C) | |
| 3 | g.189995430C>T | CA2753327 | P3H2 | c.493G>A (p.Glu165Lys) c.-51G>A (n.-51G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.189995430_189995431delinsTA | CA645515681 | P3H2 | c.492_493delinsTA (p.Glu165Lys) c.-52_-51delinsTA (n.-52_-51delinsTA) | COSMIC |
| 3 | g.189995431G>A | CA2753328 | P3H2 | c.492C>T (p.Leu164=) c.-52C>T (n.-52C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.189995431G>C | CA437418325 | P3H2 | c.492C>G (p.Leu164=) c.-52C>G (n.-52C>G) | dbSNP |
| 3 | g.189995431G= | CA1428574978 | P3H2 | c.492C= (p.Leu164=) c.-52C= (n.-52C=) | |
| 3 | g.189995431G>T | CA437418326 | P3H2 | c.492C>A (p.Leu164=) c.-52C>A (n.-52C>A) | gnomAD v4 |
| 3 | g.189995432A= | CA1428574984 | P3H2 | c.491T= (p.Leu164=) c.-53T= (n.-53T=) | |
| 3 | g.189995432A>C | CA355759991 | P3H2 | c.491T>G (p.Leu164Arg) c.-53T>G (n.-53T>G) | |
| 3 | g.189995432A>G | CA2753330 | P3H2 | c.491T>C (p.Leu164Pro) c.-53T>C (n.-53T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.189995432A>T | CA355759990 | P3H2 | c.491T>A (p.Leu164His) c.-53T>A (n.-53T>A) | |
| 3 | g.189995432_189995433insAAA | CA2753329 | P3H2 | c.491_492insTTT (p.Leu164_Glu165insPhe) c.-53_-52insTTT (n.-53_-52insTTT) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.189995433G>A | CA355759992 | P3H2 | c.490C>T (p.Leu164Phe) c.-54C>T (n.-54C>T) | |
| 3 | g.189995433G>C | CA355759993 | P3H2 | c.490C>G (p.Leu164Val) c.-54C>G (n.-54C>G) | |
| 3 | g.189995433G>T | CA355759994 | P3H2 | c.490C>A (p.Leu164Ile) c.-54C>A (n.-54C>A) | |
| 3 | g.189995434C>A | CA355759995 | P3H2 | c.489G>T (p.Gln163His) c.-55G>T (n.-55G>T) | |
| 3 | g.189995434C>G | CA355759996 | P3H2 | c.489G>C (p.Gln163His) c.-55G>C (n.-55G>C) | |
| 3 | g.189995434C>T | CA437418327 | P3H2 | c.489G>A (p.Gln163=) c.-55G>A (n.-55G>A) | gnomAD v4 |
| 3 | g.189995435T>A | CA355759999 | P3H2 | c.488A>T (p.Gln163Leu) c.-56A>T (n.-56A>T) | |
| 3 | g.189995435T>C | CA355759997 | P3H2 | c.488A>G (p.Gln163Arg) c.-56A>G (n.-56A>G) | gnomAD v4 |
| 3 | g.189995435T>G | CA355759998 | P3H2 | c.488A>C (p.Gln163Pro) c.-56A>C (n.-56A>C) | |
| 3 | g.189995436G>A | CA355760000 | P3H2 | c.487C>T (p.Gln163Ter) c.-57C>T (n.-57C>T) | |
| 3 | g.189995436G>C | CA355760001 | P3H2 | c.487C>G (p.Gln163Glu) c.-57C>G (n.-57C>G) | |
| 3 | g.189995436G>T | CA355760002 | P3H2 | c.487C>A (p.Gln163Lys) c.-57C>A (n.-57C>A) | gnomAD v4 |
| 3 | g.189995437G>A | CA437418328 | P3H2 | c.486C>T (p.Asn162=) c.-58C>T (n.-58C>T) | gnomAD v4 |
| 3 | g.189995437G>C | CA355760003 | P3H2 | c.486C>G (p.Asn162Lys) c.-58C>G (n.-58C>G) | gnomAD v4 |
| 3 | g.189995437G= | CA1428574990 | P3H2 | c.486C= (p.Asn162=) c.-58C= (n.-58C=) | |
| 3 | g.189995437G>T | CA355760004 | P3H2 | c.486C>A (p.Asn162Lys) c.-58C>A (n.-58C>A) | dbSNP gnomAD v4 |
| 3 | g.189995438T>A | CA355760005 | P3H2 | c.485A>T (p.Asn162Ile) c.-59A>T (n.-59A>T) | |
| 3 | g.189995438T>C | CA355760007 | P3H2 | c.485A>G (p.Asn162Ser) c.-59A>G (n.-59A>G) | gnomAD v4 |
| 3 | g.189995438T>G | CA355760006 | P3H2 | c.485A>C (p.Asn162Thr) c.-59A>C (n.-59A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.189995438T= | CA1428574993 | P3H2 | c.485A= (p.Asn162=) c.-59A= (n.-59A=) | |
| 3 | g.189995439T>A | CA355760008 | P3H2 | c.484A>T (p.Asn162Tyr) c.-60A>T (n.-60A>T) | |
| 3 | g.189995439T>C | CA355760010 | P3H2 | c.484A>G (p.Asn162Asp) c.-60A>G (n.-60A>G) | |
| 3 | g.189995439T>G | CA355760009 | P3H2 | c.484A>C (p.Asn162His) c.-60A>C (n.-60A>C) | |
| 3 | g.189995440A>C | CA437418329 | P3H2 | c.483T>G (p.Leu161=) c.-61T>G (n.-61T>G) | |
| 3 | g.189995440A>G | CA437418330 | P3H2 | c.483T>C (p.Leu161=) c.-61T>C (n.-61T>C) | |
| 3 | g.189995440A>T | CA437418331 | P3H2 | c.483T>A (p.Leu161=) c.-61T>A (n.-61T>A) | |
| 3 | g.189995441del | CA2669049786 | P3H2 | c.483del (p.Asn162ThrfsTer?) c.-61del (n.-61del) | gnomAD v4 |
| 3 | g.189995441A= | CA1428575001 | P3H2 | c.482T= (p.Leu161=) c.-62T= (n.-62T=) | |
| 3 | g.189995441A>C | CA355760011 | P3H2 | c.482T>G (p.Leu161Arg) c.-62T>G (n.-62T>G) | |
| 3 | g.189995441A>G | CA355760013 | P3H2 | c.482T>C (p.Leu161Pro) c.-62T>C (n.-62T>C) | gnomAD v4 |
| 3 | g.189995441A>T | CA355760012 | P3H2 | c.482T>A (p.Leu161His) c.-62T>A (n.-62T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.189995442G>A | CA355760014 | P3H2 | c.481C>T (p.Leu161Phe) c.-63C>T (n.-63C>T) | |
| 3 | g.189995442G>C | CA355760016 | P3H2 | c.481C>G (p.Leu161Val) c.-63C>G (n.-63C>G) | |
| 3 | g.189995442G>T | CA355760015 | P3H2 | c.481C>A (p.Leu161Ile) c.-63C>A (n.-63C>A) | |
| 3 | g.189995442_189995444del | CA2740493712 | P3H2 | c.481-2_481del c.-63-2_-63del | |
| 3 | g.189995443C>A | CA89743287 | P3H2 | c.481-1G>T (n.481-1G>T) c.-63-1G>T (n.-63-1G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.189995443C= | CA1428575003 | P3H2 | c.481-1G= (n.481-1G=) c.-63-1G= (n.-63-1G=) | |
| 3 | g.189995443C>G | CA355760017 | P3H2 | c.481-1G>C (n.481-1G>C) c.-63-1G>C (n.-63-1G>C) | |
| 3 | g.189995443C>T | CA355760018 | P3H2 | c.481-1G>A (n.481-1G>A) c.-63-1G>A (n.-63-1G>A) |