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 |
|---|---|---|---|---|---|
| 9 | g.127823973_127830053del | CA1139661202 | ENG | c.-327-226_588+331del c.220-226_1134+331del | ClinVar |
| 9 | g.127823973_127830815del | CA1139661203 | ENG | c.-327-988_588+331del c.220-988_1134+331del | ClinVar |
| 9 | g.127824679_127826283del | CA1139661205 | ENG | c.-24+229_445+123del c.523+229_991+123del | ClinVar |
| 9 | g.127824681_127830056del | CA1139661206 | ENG | c.-327-225_445+123del c.220-225_991+123del | ClinVar |
| 9 | g.127824709_127824895delinsGCCCAAGCTCACACAGAGGTGCTTCACCAACAGTGTGGCCACTGATCCAAGGGAGGGGAAGGGAAGGGAGGGGCAGGGGAAGGGTGCTCACCGCAGCTGGAGGCATGAAGTGAGACAATGCTGGCCAGCGGTAGCTCCACGAAGGATGCCACAATGCTGGCATTGAGCATCCGGGCCTCCCCCAGGA | CA1879973147 | ENG | c.350_445+91delinsTCCTGGGGGAGGCCCGGATGCTCAATGCCAGCATTGTGGCATCCTTCGTGGAGCTACCGCTGGCCAGCATTGTCTCACTTCATGCCTCCAGCTGCGGTGAGCACCCTTCCCCTGCCCCTCCCTTCCCTTCCCCTCCCTTGGATCAGTGGCCACACTGTTGGTGAAGCACCTCTGTGTGAGCTTGGGC c.896_991+91delinsTCCTGGGGGAGGCCCGGATGCTCAATGCCAGCATTGTGGCATCCTTCGTGGAGCTACCGCTGGCCAGCATTGTCTCACTTCATGCCTCCAGCTGCGGTGAGCACCCTTCCCCTGCCCCTCCCTTCCCTTCCCCTCCCTTGGATCAGTGGCCACACTGTTGGTGAAGCACCTCTGTGTGAGCTTGGGC | |
| 9 | g.127824710_127824895del | CA658797291 | ENG | c.350_445+90del c.896_991+90del | ClinVar dbSNP |
| 9 | g.127824772_127824792dup | CA5252915 | ENG | c.445+18_445+38dup (n.445+18_445+38dup) c.991+18_991+38dup (n.991+18_991+38dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127824772_127824792del | CA5252914 | ENG | c.445+18_445+38del (n.445+18_445+38del) c.991+18_991+38del (n.991+18_991+38del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127824792_127824793insAGGGGGAGGGGCAGGGGAAGGG | CA5252922 | ENG | c.445+26_445+27insCCTCCCTTCCCCTGCCCCTCCC (n.445+26_445+27insCCTCCCTTCCCCTGCCCCTCCC) c.991+26_991+27insCCTCCCTTCCCCTGCCCCTCCC (n.991+26_991+27insCCTCCCTTCCCCTGCCCCTCCC) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127824782_127824787dup | CA1879973309 | ENG | c.445+18_445+23dup (n.445+18_445+23dup) c.991+18_991+23dup (n.991+18_991+23dup) | dbSNP gnomAD v4 |
| 9 | g.127824787del | CA2691808516 | ENG | c.445+16del (n.445+16del) c.991+16del (n.991+16del) | gnomAD v4 |
| 9 | g.127824787_127824788insCAGGG | CA2579461277 | ENG | c.445+15_445+16insTGCCC (n.445+15_445+16insTGCCC) c.991+15_991+16insTGCCC (n.991+15_991+16insTGCCC) | |
| 9 | g.127824787G>A | CA2691808527 | ENG | c.445+13C>T (n.445+13C>T) c.991+13C>T (n.991+13C>T) | gnomAD v4 |
| 9 | g.127824787G>C | CA1129279638 | ENG | c.445+13C>G (n.445+13C>G) c.991+13C>G (n.991+13C>G) | gnomAD v3 gnomAD v4 |
| 9 | g.127824787G= | CA1879973332 | ENG | c.445+13C= (n.445+13C=) c.991+13C= (n.991+13C=) | |
| 9 | g.127824787G>T | CA653542275 | ENG | c.445+13C>A (n.445+13C>A) c.991+13C>A (n.991+13C>A) | gnomAD v4 COSMIC |
| 9 | g.127824788A= | CA1879973334 | ENG | c.445+12T= (n.445+12T=) c.991+12T= (n.991+12T=) | |
| 9 | g.127824788A>C | CA200312991 | ENG | c.445+12T>G (n.445+12T>G) c.991+12T>G (n.991+12T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127824788A>G | CA1879973337 | ENG | c.445+12T>C (n.445+12T>C) c.991+12T>C (n.991+12T>C) | dbSNP gnomAD v4 |
| 9 | g.127824789dup | CA200312987 | ENG | c.445+12dup (n.445+12dup) c.991+12dup (n.991+12dup) | dbSNP |
| 9 | g.127824789del | CA2691808531 | ENG | c.445+12del (n.445+12del) c.991+12del (n.991+12del) | gnomAD v4 |
| 9 | g.127824789A>C | CA1129279644 | ENG | c.445+11T>G (n.445+11T>G) c.991+11T>G (n.991+11T>G) | gnomAD v3 gnomAD v4 |
| 9 | g.127824789A>G | CA2691808532 | ENG | c.445+11T>C (n.445+11T>C) c.991+11T>C (n.991+11T>C) | gnomAD v4 |
| 9 | g.127824790G>A | CA860196789 | ENG | c.445+10C>T (n.445+10C>T) c.991+10C>T (n.991+10C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.127824790G= | CA1879973338 | ENG | c.445+10C= (n.445+10C=) c.991+10C= (n.991+10C=) | |
| 9 | g.127824790G>T | CA2691808534 | ENG | c.445+10C>A (n.445+10C>A) c.991+10C>A (n.991+10C>A) | gnomAD v4 |
| 9 | g.127824791G>A | CA590939461 | ENG | c.445+9C>T (n.445+9C>T) c.991+9C>T (n.991+9C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127824791G= | CA1879973341 | ENG | c.445+9C= (n.445+9C=) c.991+9C= (n.991+9C=) | |
| 9 | g.127824791G>T | CA2691808537 | ENG | c.445+9C>A (n.445+9C>A) c.991+9C>A (n.991+9C>A) | gnomAD v4 |
| 9 | g.127824792G>T | CA2499219639 | ENG | c.445+8C>A (n.445+8C>A) c.991+8C>A (n.991+8C>A) | ClinVar dbSNP gnomAD v4 |
| 9 | g.127824793T>A | CA2691808545 | ENG | c.445+7A>T (n.445+7A>T) c.991+7A>T (n.991+7A>T) | gnomAD v4 |
| 9 | g.127824793T>C | CA200312999 | ENG | c.445+7A>G (n.445+7A>G) c.991+7A>G (n.991+7A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127824793T>G | CA590939462 | ENG | c.445+7A>C (n.445+7A>C) c.991+7A>C (n.991+7A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127824793T= | CA1879973343 | ENG | c.445+7A= (n.445+7A=) c.991+7A= (n.991+7A=) | |
| 9 | g.127824794G>A | CA2691808554 | ENG | c.445+6C>T (n.445+6C>T) c.991+6C>T (n.991+6C>T) | gnomAD v4 |
| 9 | g.127824795C>A | CA2691808556 | ENG | c.445+5G>T (n.445+5G>T) c.991+5G>T (n.991+5G>T) | gnomAD v4 |
| 9 | g.127824795C>T | CA2691808558 | ENG | c.445+5G>A (n.445+5G>A) c.991+5G>A (n.991+5G>A) | gnomAD v4 |
| 9 | g.127824796T>A | CA2691808560 | ENG | c.445+4A>T (n.445+4A>T) c.991+4A>T (n.991+4A>T) | gnomAD v4 |
| 9 | g.127824796T>C | CA2573143993 | ENG | c.445+4A>G (n.445+4A>G) c.991+4A>G (n.991+4A>G) | ClinVar dbSNP |
| 9 | g.127824797C>A | CA2691808563 | ENG | c.445+3G>T (n.445+3G>T) c.991+3G>T (n.991+3G>T) | gnomAD v4 |
| 9 | g.127824797C= | CA1879973346 | ENG | c.445+3G= (n.445+3G=) c.991+3G= (n.991+3G=) | |
| 9 | g.127824797C>T | CA5252927 | ENG | c.445+3G>A (n.445+3G>A) c.991+3G>A (n.991+3G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.127824798A= | CA1879973357 | ENG | c.445+2T= (n.445+2T=) c.991+2T= (n.991+2T=) | |
| 9 | g.127824798A>C | CA374981834 | ENG | c.445+2T>G (n.445+2T>G) c.991+2T>G (n.991+2T>G) | ClinVar dbSNP |
| 9 | g.127824798A>G | CA374981837 | ENG | c.445+2T>C (n.445+2T>C) c.991+2T>C (n.991+2T>C) | ClinVar dbSNP |
| 9 | g.127824798A>T | CA374981840 | ENG | c.445+2T>A (n.445+2T>A) c.991+2T>A (n.991+2T>A) | ClinVar |
| 9 | g.127824799C>A | CA374981851 | ENG | c.445+1G>T (n.445+1G>T) c.991+1G>T (n.991+1G>T) | gnomAD v4 |
| 9 | g.127824799C>G | CA374981852 | ENG | c.445+1G>C (n.445+1G>C) c.991+1G>C (n.991+1G>C) | ClinVar |
| 9 | g.127824799C>T | CA374981854 | ENG | c.445+1G>A (n.445+1G>A) c.991+1G>A (n.991+1G>A) | |
| 9 | g.127824800del | CA2739265075 | ENG | c.445+1del c.991+1del | ClinVar |
| 9 | g.127824800C>A | CA374981858 | ENG | c.445G>T (p.Gly149Cys) c.991G>T (p.Gly331Cys) | gnomAD v4 |
| 9 | g.127824800C= | CA1879973363 | ENG | c.445G= (p.Gly149=) c.991G= (p.Gly331=) | |
| 9 | g.127824800C>G | CA374981859 | ENG | c.445G>C (p.Gly149Arg) c.991G>C (p.Gly331Arg) | |
| 9 | g.127824800C>T | CA16612528 | ENG | c.445G>A (p.Gly149Ser) c.991G>A (p.Gly331Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 9 | g.127824801del | CA2695211246 | ENG | c.444del (p.Cys148TrpfsTer29) c.990del (p.Cys330TrpfsTer29) | |
| 9 | g.127824801G>A | CA5252928 | ENG | c.444C>T (p.Cys148=) c.990C>T (p.Cys330=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127824801G>C | CA374981862 | ENG | c.444C>G (p.Cys148Trp) c.990C>G (p.Cys330Trp) | |
| 9 | g.127824801G= | CA1879973371 | ENG | c.444C= (p.Cys148=) c.990C= (p.Cys330=) | |
| 9 | g.127824801G>T | CA374981863 | ENG | c.444C>A (p.Cys148Ter) c.990C>A (p.Cys330Ter) | ClinVar |
| 9 | g.127824802C>A | CA374981865 | ENG | c.443G>T (p.Cys148Phe) c.989G>T (p.Cys330Phe) | ClinVar |
| 9 | g.127824802C>G | CA374981872 | ENG | c.443G>C (p.Cys148Ser) c.989G>C (p.Cys330Ser) | |
| 9 | g.127824802C>T | CA374981876 | ENG | c.443G>A (p.Cys148Tyr) c.989G>A (p.Cys330Tyr) | gnomAD v4 |
| 9 | g.127824803A>C | CA374981880 | ENG | c.442T>G (p.Cys148Gly) c.988T>G (p.Cys330Gly) | |
| 9 | g.127824803A>G | CA374981878 | ENG | c.442T>C (p.Cys148Arg) c.988T>C (p.Cys330Arg) | gnomAD v4 |
| 9 | g.127824803A>T | CA374981879 | ENG | c.442T>A (p.Cys148Ser) c.988T>A (p.Cys330Ser) | |
| 9 | g.127824804G>A | CA467230892 | ENG | c.441C>T (p.Ser147=) c.987C>T (p.Ser329=) | |
| 9 | g.127824804G>C | CA374981881 | ENG | c.441C>G (p.Ser147Arg) c.987C>G (p.Ser329Arg) | |
| 9 | g.127824804G>T | CA374981882 | ENG | c.441C>A (p.Ser147Arg) c.987C>A (p.Ser329Arg) | |
| 9 | g.127824805C>A | CA374981884 | ENG | c.440G>T (p.Ser147Ile) c.986G>T (p.Ser329Ile) | gnomAD v4 |
| 9 | g.127824805C>G | CA374981886 | ENG | c.440G>C (p.Ser147Thr) c.986G>C (p.Ser329Thr) | |
| 9 | g.127824805C>T | CA374981887 | ENG | c.440G>A (p.Ser147Asn) c.986G>A (p.Ser329Asn) | |
| 9 | g.127824806T>A | CA374981908 | ENG | c.439A>T (p.Ser147Cys) c.985A>T (p.Ser329Cys) | ClinVar dbSNP |
| 9 | g.127824806T>C | CA374981915 | ENG | c.439A>G (p.Ser147Gly) c.985A>G (p.Ser329Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127824806T>G | CA374981910 | ENG | c.439A>C (p.Ser147Arg) c.985A>C (p.Ser329Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.127824806T= | CA1879973377 | ENG | c.439A= (p.Ser147=) c.985A= (p.Ser329=) | |
| 9 | g.127824807G>A | CA467230893 | ENG | c.438C>T (p.Ser146=) c.984C>T (p.Ser328=) | |
| 9 | g.127824807G>C | CA467230894 | ENG | c.438C>G (p.Ser146=) c.984C>G (p.Ser328=) | |
| 9 | g.127824807G>T | CA467230895 | ENG | c.438C>A (p.Ser146=) c.984C>A (p.Ser328=) | |
| 9 | g.127824807_127824808delinsCT | CA915947173 | ENG | c.437_438delinsAG (p.Ser146Ter) c.983_984delinsAG (p.Ser328Ter) | ClinVar dbSNP |
| 9 | g.127824807_127824808delinsGG | CA1879973390 | ENG | c.437_438delinsCC (p.Ser146=) c.983_984delinsCC (p.Ser328=) | |
| 9 | g.127824808G>A | CA374981918 | ENG | c.437C>T (p.Ser146Phe) c.983C>T (p.Ser328Phe) | |
| 9 | g.127824808G>C | CA374981921 | ENG | c.437C>G (p.Ser146Cys) c.983C>G (p.Ser328Cys) | |
| 9 | g.127824808G>T | CA374981924 | ENG | c.437C>A (p.Ser146Tyr) c.983C>A (p.Ser328Tyr) | |
| 9 | g.127824809A>C | CA374981927 | ENG | c.436T>G (p.Ser146Ala) c.982T>G (p.Ser328Ala) | |
| 9 | g.127824809A>G | CA374981929 | ENG | c.436T>C (p.Ser146Pro) c.982T>C (p.Ser328Pro) | |
| 9 | g.127824809A>T | CA374981931 | ENG | c.436T>A (p.Ser146Thr) c.982T>A (p.Ser328Thr) | ClinVar |
| 9 | g.127824809_127824810delinsAG | CA1879973393 | ENG | c.435_436delinsCT (p.Ala145=) c.981_982delinsCT (p.Ala327=) | |
| 9 | g.127824810_127824813dup | CA2695211247 | ENG | c.433_436dup (p.Ser146CysfsTer7) c.979_982dup (p.Ser328CysfsTer7) | |
| 9 | g.127824810G>A | CA467230896 | ENG | c.435C>T (p.Ala145=) c.981C>T (p.Ala327=) | gnomAD v4 COSMIC COSMIC |
| 9 | g.127824810G>C | CA467230897 | ENG | c.435C>G (p.Ala145=) c.981C>G (p.Ala327=) | |
| 9 | g.127824810G>T | CA467230898 | ENG | c.435C>A (p.Ala145=) c.981C>A (p.Ala327=) | gnomAD v4 |
| 9 | g.127824811del | CA5252929 | ENG | c.435del (p.Ser146ProfsTer?) c.981del (p.Ser328ProfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.127824811G>A | CA374981934 | ENG | c.434C>T (p.Ala145Val) c.980C>T (p.Ala327Val) | gnomAD v4 |
| 9 | g.127824811G>C | CA374981935 | ENG | c.434C>G (p.Ala145Gly) c.980C>G (p.Ala327Gly) | |
| 9 | g.127824811G= | CA1879973399 | ENG | c.434C= (p.Ala145=) c.980C= (p.Ala327=) | |
| 9 | g.127824811G>T | CA200313005 | ENG | c.434C>A (p.Ala145Asp) c.980C>A (p.Ala327Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.127824812C>A | CA374981953 | ENG | c.433G>T (p.Ala145Ser) c.979G>T (p.Ala327Ser) | gnomAD v4 |
| 9 | g.127824812C= | CA1879973403 | ENG | c.433G= (p.Ala145=) c.979G= (p.Ala327=) | |
| 9 | g.127824812C>G | CA374981951 | ENG | c.433G>C (p.Ala145Pro) c.979G>C (p.Ala327Pro) | |
| 9 | g.127824812C>T | CA374981941 | ENG | c.433G>A (p.Ala145Thr) c.979G>A (p.Ala327Thr) | dbSNP gnomAD v4 |
| 9 | g.127824813A= | CA1879973408 | ENG | c.432T= (p.His144=) c.978T= (p.His326=) | |
| 9 | g.127824813A>C | CA374981954 | ENG | c.432T>G (p.His144Gln) c.978T>G (p.His326Gln) | |
| 9 | g.127824813A>G | CA467230899 | ENG | c.432T>C (p.His144=) c.978T>C (p.His326=) | dbSNP |
| 9 | g.127824813A>T | CA374981955 | ENG | c.432T>A (p.His144Gln) c.978T>A (p.His326Gln) | |
| 9 | g.127824814T>A | CA374981957 | ENG | c.431A>T (p.His144Leu) c.977A>T (p.His326Leu) | |
| 9 | g.127824814T>C | CA374981959 | ENG | c.431A>G (p.His144Arg) c.977A>G (p.His326Arg) | dbSNP |
| 9 | g.127824814T>G | CA374981965 | ENG | c.431A>C (p.His144Pro) c.977A>C (p.His326Pro) | |
| 9 | g.127824814T= | CA1879973412 | ENG | c.431A= (p.His144=) c.977A= (p.His326=) | |
| 9 | g.127824815G>A | CA374981969 | ENG | c.430C>T (p.His144Tyr) c.976C>T (p.His326Tyr) | gnomAD v4 COSMIC COSMIC |
| 9 | g.127824815G>C | CA374981972 | ENG | c.430C>G (p.His144Asp) c.976C>G (p.His326Asp) | |
| 9 | g.127824815G>T | CA374981974 | ENG | c.430C>A (p.His144Asn) c.976C>A (p.His326Asn) | |
| 9 | g.127824816A= | CA1879973420 | ENG | c.429T= (p.Leu143=) c.975T= (p.Leu325=) | |
| 9 | g.127824816A>C | CA5252930 | ENG | c.429T>G (p.Leu143=) c.975T>G (p.Leu325=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127824816A>G | CA467230900 | ENG | c.429T>C (p.Leu143=) c.975T>C (p.Leu325=) | |
| 9 | g.127824816A>T | CA467230901 | ENG | c.429T>A (p.Leu143=) c.975T>A (p.Leu325=) | |
| 9 | g.127824817A= | CA1879973429 | ENG | c.428T= (p.Leu143=) c.974T= (p.Leu325=) | |
| 9 | g.127824817A>C | CA374981980 | ENG | c.428T>G (p.Leu143Arg) c.974T>G (p.Leu325Arg) | ClinVar dbSNP |
| 9 | g.127824817A>G | CA374981983 | ENG | c.428T>C (p.Leu143Pro) c.974T>C (p.Leu325Pro) | |
| 9 | g.127824817A>T | CA5252931 | ENG | c.428T>A (p.Leu143His) c.974T>A (p.Leu325His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127824818G>A | CA374981988 | ENG | c.427C>T (p.Leu143Phe) c.973C>T (p.Leu325Phe) | |
| 9 | g.127824818G>C | CA374981992 | ENG | c.427C>G (p.Leu143Val) c.973C>G (p.Leu325Val) | |
| 9 | g.127824818G>T | CA374981994 | ENG | c.427C>A (p.Leu143Ile) c.973C>A (p.Leu325Ile) | |
| 9 | g.127824818dup | CA2580079632 | ENG | c.427dup (p.Leu143ProfsTer9) c.973dup (p.Leu325ProfsTer9) | ClinVar |
| 9 | g.127824819T>A | CA467230904 | ENG | c.426A>T (p.Ser142=) c.972A>T (p.Ser324=) | |
| 9 | g.127824819T>C | CA467230903 | ENG | c.426A>G (p.Ser142=) c.972A>G (p.Ser324=) | |
| 9 | g.127824819T>G | CA467230902 | ENG | c.426A>C (p.Ser142=) c.972A>C (p.Ser324=) | |
| 9 | g.127824820G>A | CA374982003 | ENG | c.425C>T (p.Ser142Leu) c.971C>T (p.Ser324Leu) | |
| 9 | g.127824820G>C | CA374982001 | ENG | c.425C>G (p.Ser142Ter) c.971C>G (p.Ser324Ter) | |
| 9 | g.127824820G>T | CA374981999 | ENG | c.425C>A (p.Ser142Ter) c.971C>A (p.Ser324Ter) | gnomAD v4 |
| 9 | g.127824821A= | CA1879973439 | ENG | c.424T= (p.Ser142=) c.970T= (p.Ser324=) | |
| 9 | g.127824821A>C | CA374982006 | ENG | c.424T>G (p.Ser142Ala) c.970T>G (p.Ser324Ala) | |
| 9 | g.127824821A>G | CA374982011 | ENG | c.424T>C (p.Ser142Pro) c.970T>C (p.Ser324Pro) | ClinVar dbSNP |
| 9 | g.127824821A>T | CA374982013 | ENG | c.424T>A (p.Ser142Thr) c.970T>A (p.Ser324Thr) | |
| 9 | g.127824822G>A | CA467230905 | ENG | c.423C>T (p.Val141=) c.969C>T (p.Val323=) | |
| 9 | g.127824822G>C | CA467230906 | ENG | c.423C>G (p.Val141=) c.969C>G (p.Val323=) | |
| 9 | g.127824822G>T | CA467230907 | ENG | c.423C>A (p.Val141=) c.969C>A (p.Val323=) | gnomAD v4 |
| 9 | g.127824822_127824824delinsGAC | CA1879973444 | ENG | c.421_423delinsGTC (p.Val141=) c.967_969delinsGTC (p.Val323=) | |
| 9 | g.127824823A>C | CA374982018 | ENG | c.422T>G (p.Val141Gly) c.968T>G (p.Val323Gly) | |
| 9 | g.127824823A>G | CA374982020 | ENG | c.422T>C (p.Val141Ala) c.968T>C (p.Val323Ala) | gnomAD v4 |
| 9 | g.127824823A>T | CA374982024 | ENG | c.422T>A (p.Val141Asp) c.968T>A (p.Val323Asp) | |
| 9 | g.127824823dup | CA2695211251 | ENG | c.422dup (p.Ser142LeufsTer10) c.968dup (p.Ser324LeufsTer10) | |
| 9 | g.127824824_127824825del | CA1139661207 | ENG | c.421_422del (p.Val141LeufsTer10) c.967_968del (p.Val323LeufsTer10) | ClinVar dbSNP |
| 9 | g.127824834_127824869del | CA2573053101 | ENG | c.387_422del (p.Ala130_Val141del) c.933_968del (p.Ala312_Val323del) | ClinVar dbSNP |
| 9 | g.127824824C>A | CA374982025 | ENG | c.421G>T (p.Val141Phe) c.967G>T (p.Val323Phe) | |
| 9 | g.127824824C= | CA1879973452 | ENG | c.421G= (p.Val141=) c.967G= (p.Val323=) | |
| 9 | g.127824824C>G | CA374982026 | ENG | c.421G>C (p.Val141Leu) c.967G>C (p.Val323Leu) | |
| 9 | g.127824824C>T | CA374982027 | ENG | c.421G>A (p.Val141Ile) c.967G>A (p.Val323Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.127824825A= | CA1879973464 | ENG | c.420T= (p.Ile140=) c.966T= (p.Ile322=) | |
| 9 | g.127824825A>C | CA200313014 | ENG | c.420T>G (p.Ile140Met) c.966T>G (p.Ile322Met) | ClinVar dbSNP gnomAD v4 |
| 9 | g.127824825A>G | CA467230908 | ENG | c.420T>C (p.Ile140=) c.966T>C (p.Ile322=) | |
| 9 | g.127824825A>T | CA467230909 | ENG | c.420T>A (p.Ile140=) c.966T>A (p.Ile322=) | |
| 9 | g.127824825_127824826del | CA2695211253 | ENG | c.419_420del (p.Ile140SerfsTer11) c.965_966del (p.Ile322SerfsTer11) | ClinVar |
| 9 | g.127824826dup | CA2580079633 | ENG | c.420dup (p.Val141CysfsTer11) c.966dup (p.Val323CysfsTer11) | ClinVar |
| 9 | g.127824826A= | CA1879973469 | ENG | c.419T= (p.Ile140=) c.965T= (p.Ile322=) | |
| 9 | g.127824826A>C | CA374982031 | ENG | c.419T>G (p.Ile140Ser) c.965T>G (p.Ile322Ser) | gnomAD v4 |
| 9 | g.127824826A>G | CA5252932 | ENG | c.419T>C (p.Ile140Thr) c.965T>C (p.Ile322Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127824826A>T | CA374982034 | ENG | c.419T>A (p.Ile140Asn) c.965T>A (p.Ile322Asn) | |
| 9 | g.127824827T>A | CA374982039 | ENG | c.418A>T (p.Ile140Phe) c.964A>T (p.Ile322Phe) | |
| 9 | g.127824827T>C | CA374982043 | ENG | c.418A>G (p.Ile140Val) c.964A>G (p.Ile322Val) | |
| 9 | g.127824827T>G | CA374982037 | ENG | c.418A>C (p.Ile140Leu) c.964A>C (p.Ile322Leu) | |
| 9 | g.127824828G>A | CA467230910 | ENG | c.417C>T (p.Ser139=) c.963C>T (p.Ser321=) | gnomAD v4 |
| 9 | g.127824828G>C | CA374982046 | ENG | c.417C>G (p.Ser139Arg) c.963C>G (p.Ser321Arg) | |
| 9 | g.127824828G>T | CA374982047 | ENG | c.417C>A (p.Ser139Arg) c.963C>A (p.Ser321Arg) | |
| 9 | g.127824829C>A | CA374982048 | ENG | c.416G>T (p.Ser139Ile) c.962G>T (p.Ser321Ile) | gnomAD v4 |
| 9 | g.127824829C>G | CA374982049 | ENG | c.416G>C (p.Ser139Thr) c.962G>C (p.Ser321Thr) | |
| 9 | g.127824829C>T | CA374982051 | ENG | c.416G>A (p.Ser139Asn) c.962G>A (p.Ser321Asn) | gnomAD v4 |
| 9 | g.127824830T>A | CA374982053 | ENG | c.415A>T (p.Ser139Cys) c.961A>T (p.Ser321Cys) | |
| 9 | g.127824830T>C | CA374982056 | ENG | c.415A>G (p.Ser139Gly) c.961A>G (p.Ser321Gly) | |
| 9 | g.127824830T>G | CA374982057 | ENG | c.415A>C (p.Ser139Arg) c.961A>C (p.Ser321Arg) | |
| 9 | g.127824831_127824840del | CA2695211256 | ENG | c.406_415del (p.Pro136AlafsTer?) c.952_961del (p.Pro318AlafsTer?) | |
| 9 | g.127824831G>A | CA467230911 | ENG | c.414C>T (p.Ala138=) c.960C>T (p.Ala320=) | |
| 9 | g.127824831G>C | CA467230913 | ENG | c.414C>G (p.Ala138=) c.960C>G (p.Ala320=) | |
| 9 | g.127824831G>T | CA467230912 | ENG | c.414C>A (p.Ala138=) c.960C>A (p.Ala320=) | |
| 9 | g.127824833_127824839del | CA2691808635 | ENG | c.408_414del (p.Leu137AlafsTer?) c.954_960del (p.Leu319AlafsTer?) | gnomAD v4 |
| 9 | g.127824832G>A | CA374982062 | ENG | c.413C>T (p.Ala138Val) c.959C>T (p.Ala320Val) | gnomAD v4 |
| 9 | g.127824832G>C | CA374982064 | ENG | c.413C>G (p.Ala138Gly) c.959C>G (p.Ala320Gly) | |
| 9 | g.127824832G>T | CA374982065 | ENG | c.413C>A (p.Ala138Asp) c.959C>A (p.Ala320Asp) | |
| 9 | g.127824833C>A | CA374982068 | ENG | c.412G>T (p.Ala138Ser) c.958G>T (p.Ala320Ser) | |
| 9 | g.127824833C>G | CA374982067 | ENG | c.412G>C (p.Ala138Pro) c.958G>C (p.Ala320Pro) | |
| 9 | g.127824833C>T | CA374982066 | ENG | c.412G>A (p.Ala138Thr) c.958G>A (p.Ala320Thr) | gnomAD v4 COSMIC COSMIC |
| 9 | g.127824834C>A | CA467230914 | ENG | c.411G>T (p.Leu137=) c.957G>T (p.Leu319=) | |
| 9 | g.127824834C>G | CA467230915 | ENG | c.411G>C (p.Leu137=) c.957G>C (p.Leu319=) | |
| 9 | g.127824834C>T | CA467230916 | ENG | c.411G>A (p.Leu137=) c.957G>A (p.Leu319=) | |
| 9 | g.127824834_127824840delinsCAGCGGT | CA1879973472 | ENG | c.405_411delinsACCGCTG (p.Leu135=) c.951_957delinsACCGCTG (p.Leu317=) | |
| 9 | g.127824835A>C | CA374982072 | ENG | c.410T>G (p.Leu137Arg) c.956T>G (p.Leu319Arg) | ClinVar |
| 9 | g.127824835A>G | CA374982074 | ENG | c.410T>C (p.Leu137Pro) c.956T>C (p.Leu319Pro) | gnomAD v4 |
| 9 | g.127824835A>T | CA374982077 | ENG | c.410T>A (p.Leu137Gln) c.956T>A (p.Leu319Gln) | |
| 9 | g.127824838_127824843del | CA1879973475 | ENG | c.405_410del (p.Pro136_Leu137del) c.951_956del (p.Pro318_Leu319del) | ClinVar dbSNP |
| 9 | g.127824835_127824836insTTGTCTTC | CA2739265076 | ENG | c.409_410insGAAGACAA (p.Leu137ArgfsTer?) c.955_956insGAAGACAA (p.Leu319ArgfsTer?) | ClinVar |
| 9 | g.127824836G>A | CA467230917 | ENG | c.409C>T (p.Leu137=) c.955C>T (p.Leu319=) | |
| 9 | g.127824836G>C | CA374982080 | ENG | c.409C>G (p.Leu137Val) c.955C>G (p.Leu319Val) | |
| 9 | g.127824836G>T | CA374982081 | ENG | c.409C>A (p.Leu137Met) c.955C>A (p.Leu319Met) | |
| 9 | g.127824836_127824837delinsTTGTCTTCGT | CA2697558067 | ENG | c.408_409delinsACGAAGACAA (p.Leu137ArgfsTer?) c.954_955delinsACGAAGACAA (p.Leu319ArgfsTer?) | ClinVar |
| 9 | g.127824837C>A | CA467230918 | ENG | c.408G>T (p.Pro136=) c.954G>T (p.Pro318=) | ClinVar dbSNP |
| 9 | g.127824837C= | CA1879973479 | ENG | c.408G= (p.Pro136=) c.954G= (p.Pro318=) | |
| 9 | g.127824837C>G | CA467230919 | ENG | c.408G>C (p.Pro136=) c.954G>C (p.Pro318=) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.127824837C>T | CA5252933 | ENG | c.408G>A (p.Pro136=) c.954G>A (p.Pro318=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127824838G>A | CA374982087 | ENG | c.407C>T (p.Pro136Leu) c.953C>T (p.Pro318Leu) | gnomAD v4 |
| 9 | g.127824838G>C | CA374982089 | ENG | c.407C>G (p.Pro136Arg) c.953C>G (p.Pro318Arg) | ClinVar dbSNP gnomAD v4 |
| 9 | g.127824838G= | CA1879973485 | ENG | c.407C= (p.Pro136=) c.953C= (p.Pro318=) | |
| 9 | g.127824838G>T | CA374982091 | ENG | c.407C>A (p.Pro136Gln) c.953C>A (p.Pro318Gln) | |
| 9 | g.127824839dup | CA2695211259 | ENG | c.407dup (p.Leu137AlafsTer15) c.953dup (p.Leu319AlafsTer15) | |
| 9 | g.127824839G>A | CA374982093 | ENG | c.406C>T (p.Pro136Ser) c.952C>T (p.Pro318Ser) | |
| 9 | g.127824839G>C | CA374982095 | ENG | c.406C>G (p.Pro136Ala) c.952C>G (p.Pro318Ala) | |
| 9 | g.127824839G= | CA1879973488 | ENG | c.406C= (p.Pro136=) c.952C= (p.Pro318=) | |
| 9 | g.127824839G>T | CA200313036 | ENG | c.406C>A (p.Pro136Thr) c.952C>A (p.Pro318Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.127824840T>A | CA467230922 | ENG | c.405A>T (p.Leu135=) c.951A>T (p.Leu317=) | |
| 9 | g.127824840T>C | CA467230921 | ENG | c.405A>G (p.Leu135=) c.951A>G (p.Leu317=) | |
| 9 | g.127824840T>G | CA467230920 | ENG | c.405A>C (p.Leu135=) c.951A>C (p.Leu317=) | gnomAD v4 |
| 9 | g.127824841A>C | CA374982104 | ENG | c.404T>G (p.Leu135Arg) c.950T>G (p.Leu317Arg) | |
| 9 | g.127824841A>G | CA374982107 | ENG | c.404T>C (p.Leu135Pro) c.950T>C (p.Leu317Pro) | ClinVar |
| 9 | g.127824841A>T | CA374982101 | ENG | c.404T>A (p.Leu135Gln) c.950T>A (p.Leu317Gln) | ClinVar |
| 9 | g.127824842G>A | CA467230923 | ENG | c.403C>T (p.Leu135=) c.949C>T (p.Leu317=) | |
| 9 | g.127824842G>C | CA374982109 | ENG | c.403C>G (p.Leu135Val) c.949C>G (p.Leu317Val) | |
| 9 | g.127824842G>T | CA374982111 | ENG | c.403C>A (p.Leu135Ile) c.949C>A (p.Leu317Ile) | |
| 9 | g.127824843C>A | CA374982113 | ENG | c.402G>T (p.Glu134Asp) c.948G>T (p.Glu316Asp) | gnomAD v4 |
| 9 | g.127824843C>G | CA374982114 | ENG | c.402G>C (p.Glu134Asp) c.948G>C (p.Glu316Asp) | |
| 9 | g.127824843C>T | CA467230924 | ENG | c.402G>A (p.Glu134=) c.948G>A (p.Glu316=) | |
| 9 | g.127824844T>A | CA374982115 | ENG | c.401A>T (p.Glu134Val) c.947A>T (p.Glu316Val) | |
| 9 | g.127824844T>C | CA374982116 | ENG | c.401A>G (p.Glu134Gly) c.947A>G (p.Glu316Gly) | dbSNP |
| 9 | g.127824844T>G | CA374982117 | ENG | c.401A>C (p.Glu134Ala) c.947A>C (p.Glu316Ala) | |
| 9 | g.127824845C>A | CA374982119 | ENG | c.400G>T (p.Glu134Ter) c.946G>T (p.Glu316Ter) | gnomAD v4 |
| 9 | g.127824845C>G | CA374982122 | ENG | c.400G>C (p.Glu134Gln) c.946G>C (p.Glu316Gln) | |
| 9 | g.127824845C>T | CA374982124 | ENG | c.400G>A (p.Glu134Lys) c.946G>A (p.Glu316Lys) | |
| 9 | g.127824846C>A | CA467230925 | ENG | c.399G>T (p.Val133=) c.945G>T (p.Val315=) | gnomAD v4 |
| 9 | g.127824846C>G | CA467230926 | ENG | c.399G>C (p.Val133=) c.945G>C (p.Val315=) | |
| 9 | g.127824846C>T | CA467230927 | ENG | c.399G>A (p.Val133=) c.945G>A (p.Val315=) | |
| 9 | g.127824847_127824848del | CA2580079634 | ENG | c.398_399del (p.Val133GlyfsTer18) c.944_945del (p.Val315GlyfsTer18) | ClinVar |
| 9 | g.127824847A>C | CA374982126 | ENG | c.398T>G (p.Val133Gly) c.944T>G (p.Val315Gly) | |
| 9 | g.127824847A>G | CA374982127 | ENG | c.398T>C (p.Val133Ala) c.944T>C (p.Val315Ala) | gnomAD v4 |
| 9 | g.127824847A>T | CA374982131 | ENG | c.398T>A (p.Val133Glu) c.944T>A (p.Val315Glu) | |
| 9 | g.127824848C>A | CA374982134 | ENG | c.397G>T (p.Val133Leu) c.943G>T (p.Val315Leu) | ClinVar |
| 9 | g.127824848C= | CA1879973493 | ENG | c.397G= (p.Val133=) c.943G= (p.Val315=) | |
| 9 | g.127824848C>G | CA374982132 | ENG | c.397G>C (p.Val133Leu) c.943G>C (p.Val315Leu) | gnomAD v4 |
| 9 | g.127824848C>T | CA5252934 | ENG | c.397G>A (p.Val133Met) c.943G>A (p.Val315Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 9 | g.127824849G>A | CA200313048 | ENG | c.396C>T (p.Phe132=) c.942C>T (p.Phe314=) | ClinVar dbSNP gnomAD v4 |
| 9 | g.127824849G>C | CA374982138 | ENG | c.396C>G (p.Phe132Leu) c.942C>G (p.Phe314Leu) | |
| 9 | g.127824849G= | CA1879973500 | ENG | c.396C= (p.Phe132=) c.942C= (p.Phe314=) | |
| 9 | g.127824849G>T | CA5252935 | ENG | c.396C>A (p.Phe132Leu) c.942C>A (p.Phe314Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.127824850A>C | CA374982144 | ENG | c.395T>G (p.Phe132Cys) c.941T>G (p.Phe314Cys) | |
| 9 | g.127824850A>G | CA374982146 | ENG | c.395T>C (p.Phe132Ser) c.941T>C (p.Phe314Ser) | |
| 9 | g.127824850A>T | CA374982148 | ENG | c.395T>A (p.Phe132Tyr) c.941T>A (p.Phe314Tyr) | |
| 9 | g.127824851A>C | CA374982151 | ENG | c.394T>G (p.Phe132Val) c.940T>G (p.Phe314Val) | |
| 9 | g.127824851A>G | CA374982154 | ENG | c.394T>C (p.Phe132Leu) c.940T>C (p.Phe314Leu) | |
| 9 | g.127824851A>T | CA374982157 | ENG | c.394T>A (p.Phe132Ile) c.940T>A (p.Phe314Ile) | |
| 9 | g.127824852G>A | CA467230928 | ENG | c.393C>T (p.Ser131=) c.939C>T (p.Ser313=) | |
| 9 | g.127824852G>C | CA467230929 | ENG | c.393C>G (p.Ser131=) c.939C>G (p.Ser313=) | |
| 9 | g.127824852G>T | CA467230930 | ENG | c.393C>A (p.Ser131=) c.939C>A (p.Ser313=) | |
| 9 | g.127824853G>A | CA374982160 | ENG | c.392C>T (p.Ser131Phe) c.938C>T (p.Ser313Phe) | gnomAD v4 |
| 9 | g.127824853G>C | CA374982163 | ENG | c.392C>G (p.Ser131Cys) c.938C>G (p.Ser313Cys) | |
| 9 | g.127824853G>T | CA374982166 | ENG | c.392C>A (p.Ser131Tyr) c.938C>A (p.Ser313Tyr) | |
| 9 | g.127824854A>C | CA374982170 | ENG | c.391T>G (p.Ser131Ala) c.937T>G (p.Ser313Ala) | |
| 9 | g.127824854A>G | CA374982173 | ENG | c.391T>C (p.Ser131Pro) c.937T>C (p.Ser313Pro) | |
| 9 | g.127824854A>T | CA374982178 | ENG | c.391T>A (p.Ser131Thr) c.937T>A (p.Ser313Thr) | |
| 9 | g.127824855T>A | CA467230931 | ENG | c.390A>T (p.Ala130=) c.936A>T (p.Ala312=) | |
| 9 | g.127824855T>C | CA467230932 | ENG | c.390A>G (p.Ala130=) c.936A>G (p.Ala312=) | |
| 9 | g.127824855T>G | CA467230933 | ENG | c.390A>C (p.Ala130=) c.936A>C (p.Ala312=) | |
| 9 | g.127824856G>A | CA5252936 | ENG | c.389C>T (p.Ala130Val) c.935C>T (p.Ala312Val) | dbSNP ExAC gnomAD v2 |
| 9 | g.127824856G>C | CA374982180 | ENG | c.389C>G (p.Ala130Gly) c.935C>G (p.Ala312Gly) | |
| 9 | g.127824856G= | CA1879973508 | ENG | c.389C= (p.Ala130=) c.935C= (p.Ala312=) | |
| 9 | g.127824856G>T | CA374982179 | ENG | c.389C>A (p.Ala130Glu) c.935C>A (p.Ala312Glu) | |
| 9 | g.127824857C>A | CA374982183 | ENG | c.388G>T (p.Ala130Ser) c.934G>T (p.Ala312Ser) | |
| 9 | g.127824857C>G | CA374982186 | ENG | c.388G>C (p.Ala130Pro) c.934G>C (p.Ala312Pro) | |
| 9 | g.127824857C>T | CA374982191 | ENG | c.388G>A (p.Ala130Thr) c.934G>A (p.Ala312Thr) | gnomAD v4 |
| 9 | g.127824858del | CA1139533027 | ENG | c.388del (p.Ala130HisfsTer?) c.934del (p.Ala312HisfsTer?) | ClinVar dbSNP |
| 9 | g.127824858C>A | CA5252937 | ENG | c.387G>T (p.Val129=) c.933G>T (p.Val311=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127824858C= | CA1879973515 | ENG | c.387G= (p.Val129=) c.933G= (p.Val311=) | |
| 9 | g.127824858C>G | CA467230934 | ENG | c.387G>C (p.Val129=) c.933G>C (p.Val311=) | gnomAD v4 |
| 9 | g.127824858C>T | CA467230935 | ENG | c.387G>A (p.Val129=) c.933G>A (p.Val311=) | ClinVar dbSNP gnomAD v4 |
| 9 | g.127824859A>C | CA374982196 | ENG | c.386T>G (p.Val129Gly) c.932T>G (p.Val311Gly) | ClinVar |
| 9 | g.127824859A>G | CA374982204 | ENG | c.386T>C (p.Val129Ala) c.932T>C (p.Val311Ala) | |
| 9 | g.127824859A>T | CA374982207 | ENG | c.386T>A (p.Val129Glu) c.932T>A (p.Val311Glu) | |
| 9 | g.127824860C>A | CA374982213 | ENG | c.385G>T (p.Val129Leu) c.931G>T (p.Val311Leu) | |
| 9 | g.127824860C>G | CA374982225 | ENG | c.385G>C (p.Val129Leu) c.931G>C (p.Val311Leu) | |
| 9 | g.127824860C>T | CA374982222 | ENG | c.385G>A (p.Val129Met) c.931G>A (p.Val311Met) | |
| 9 | g.127824861A>C | CA374982229 | ENG | c.384T>G (p.Ile128Met) c.930T>G (p.Ile310Met) | |
| 9 | g.127824861A>G | CA467230937 | ENG | c.384T>C (p.Ile128=) c.930T>C (p.Ile310=) | gnomAD v4 |
| 9 | g.127824861A>T | CA467230936 | ENG | c.384T>A (p.Ile128=) c.930T>A (p.Ile310=) | |
| 9 | g.127824862A= | CA1879973520 | ENG | c.383T= (p.Ile128=) c.929T= (p.Ile310=) | |
| 9 | g.127824862A>C | CA374982232 | ENG | c.383T>G (p.Ile128Ser) c.929T>G (p.Ile310Ser) | |
| 9 | g.127824862A>G | CA374982235 | ENG | c.383T>C (p.Ile128Thr) c.929T>C (p.Ile310Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127824862A>T | CA374982238 | ENG | c.383T>A (p.Ile128Asn) c.929T>A (p.Ile310Asn) | |
| 9 | g.127824862_127824882del | CA2695211262 | ENG | c.363_383del (p.Arg122_Ile128del) c.909_929del (p.Arg304_Ile310del) | |
| 9 | g.127824863T>A | CA374982239 | ENG | c.382A>T (p.Ile128Phe) c.928A>T (p.Ile310Phe) | |
| 9 | g.127824863T>C | CA374982243 | ENG | c.382A>G (p.Ile128Val) c.928A>G (p.Ile310Val) | |
| 9 | g.127824863T>G | CA374982241 | ENG | c.382A>C (p.Ile128Leu) c.928A>C (p.Ile310Leu) | |
| 9 | g.127824864G>A | CA467230938 | ENG | c.381C>T (p.Ser127=) c.927C>T (p.Ser309=) | dbSNP |
| 9 | g.127824864G>C | CA374982247 | ENG | c.381C>G (p.Ser127Arg) c.927C>G (p.Ser309Arg) | |
| 9 | g.127824864G= | CA1879973521 | ENG | c.381C= (p.Ser127=) c.927C= (p.Ser309=) | |
| 9 | g.127824864G>T | CA374982254 | ENG | c.381C>A (p.Ser127Arg) c.927C>A (p.Ser309Arg) | |
| 9 | g.127824866_127824869dup | CA2580079635 | ENG | c.378_381dup (p.Ile128GlnfsTer25) c.924_927dup (p.Ile310GlnfsTer25) | ClinVar |
| 9 | g.127824865C>A | CA374982258 | ENG | c.380G>T (p.Ser127Ile) c.926G>T (p.Ser309Ile) | |
| 9 | g.127824865C= | CA1879973524 | ENG | c.380G= (p.Ser127=) c.926G= (p.Ser309=) | |
| 9 | g.127824865C>G | CA374982260 | ENG | c.380G>C (p.Ser127Thr) c.926G>C (p.Ser309Thr) | |
| 9 | g.127824865C>T | CA374982264 | ENG | c.380G>A (p.Ser127Asn) c.926G>A (p.Ser309Asn) | |
| 9 | g.127824866T>A | CA374982267 | ENG | c.379A>T (p.Ser127Cys) c.925A>T (p.Ser309Cys) | |
| 9 | g.127824866T>C | CA374982268 | ENG | c.379A>G (p.Ser127Gly) c.925A>G (p.Ser309Gly) | |
| 9 | g.127824866T>G | CA374982271 | ENG | c.379A>C (p.Ser127Arg) c.925A>C (p.Ser309Arg) | |
| 9 | g.127824866_127824868dup | CA1879973525 | ENG | c.377_379dup (p.Ala126_Ser127insThr) c.923_925dup (p.Ala308_Ser309insThr) | ClinVar dbSNP |
| 9 | g.127824867G>A | CA467230939 | ENG | c.378C>T (p.Ala126=) c.924C>T (p.Ala308=) | |
| 9 | g.127824867G>C | CA467230940 | ENG | c.378C>G (p.Ala126=) c.924C>G (p.Ala308=) | |
| 9 | g.127824867G>T | CA467230941 | ENG | c.378C>A (p.Ala126=) c.924C>A (p.Ala308=) | |
| 9 | g.127824868G>A | CA374982274 | ENG | c.377C>T (p.Ala126Val) c.923C>T (p.Ala308Val) | dbSNP |
| 9 | g.127824868G>C | CA374982276 | ENG | c.377C>G (p.Ala126Gly) c.923C>G (p.Ala308Gly) | |
| 9 | g.127824868G= | CA1879973531 | ENG | c.377C= (p.Ala126=) c.923C= (p.Ala308=) | |
| 9 | g.127824868G>T | CA374982277 | ENG | c.377C>A (p.Ala126Asp) c.923C>A (p.Ala308Asp) | ClinVar dbSNP |
| 9 | g.127824869C>A | CA374982283 | ENG | c.376G>T (p.Ala126Ser) c.922G>T (p.Ala308Ser) | gnomAD v4 |
| 9 | g.127824869C>G | CA374982282 | ENG | c.376G>C (p.Ala126Pro) c.922G>C (p.Ala308Pro) | |
| 9 | g.127824869C>T | CA374982280 | ENG | c.376G>A (p.Ala126Thr) c.922G>A (p.Ala308Thr) | COSMIC COSMIC |
| 9 | g.127824869dup | CA2573143967 | ENG | c.376dup (p.Ala126GlyfsTer26) c.922dup (p.Ala308GlyfsTer26) | ClinVar dbSNP |
| 9 | g.127824870A= | CA1879973534 | ENG | c.375T= (p.Asn125=) c.921T= (p.Asn307=) | |
| 9 | g.127824870A>C | CA374982285 | ENG | c.375T>G (p.Asn125Lys) c.921T>G (p.Asn307Lys) | |
| 9 | g.127824870A>G | CA467230942 | ENG | c.375T>C (p.Asn125=) c.921T>C (p.Asn307=) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.127824870A>T | CA374982288 | ENG | c.375T>A (p.Asn125Lys) c.921T>A (p.Asn307Lys) | |
| 9 | g.127824871T>A | CA374982291 | ENG | c.374A>T (p.Asn125Ile) c.920A>T (p.Asn307Ile) | ClinVar |
| 9 | g.127824871T>C | CA5252938 | ENG | c.374A>G (p.Asn125Ser) c.920A>G (p.Asn307Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127824871T>G | CA374982294 | ENG | c.374A>C (p.Asn125Thr) c.920A>C (p.Asn307Thr) | |
| 9 | g.127824871T= | CA1879973543 | ENG | c.374A= (p.Asn125=) c.920A= (p.Asn307=) | |
| 9 | g.127824871_127824872del | CA2580079636 | ENG | c.373_374del (p.Asn125CysfsTer26) c.919_920del (p.Asn307CysfsTer26) | ClinVar |
| 9 | g.127824872dup | CA658797292 | ENG | c.374dup (p.Asn125LysfsTer27) c.920dup (p.Asn307LysfsTer27) | ClinVar dbSNP |
| 9 | g.127824872_127824910del | CA913184987 | ENG | c.336_374del (p.Thr113_Asn125del) c.882_920del (p.Thr295_Asn307del) | ClinVar dbSNP |
| 9 | g.127824872T>A | CA374982302 | ENG | c.373A>T (p.Asn125Tyr) c.919A>T (p.Asn307Tyr) | |
| 9 | g.127824872T>C | CA374982307 | ENG | c.373A>G (p.Asn125Asp) c.919A>G (p.Asn307Asp) | ClinVar dbSNP gnomAD v4 |
| 9 | g.127824872T>G | CA374982303 | ENG | c.373A>C (p.Asn125His) c.919A>C (p.Asn307His) | gnomAD v4 |
| 9 | g.127824872T= | CA1879973550 | ENG | c.373A= (p.Asn125=) c.919A= (p.Asn307=) | |
| 9 | g.127824872_127824880delinsTGAGCATCC | CA1879973548 | ENG | c.365_373delinsGGATGCTCA (p.Arg122=) c.911_919delinsGGATGCTCA (p.Arg304=) | |
| 9 | g.127824873G>A | CA467230945 | ENG | c.372C>T (p.Leu124=) c.918C>T (p.Leu306=) | gnomAD v4 |
| 9 | g.127824873G>C | CA467230946 | ENG | c.372C>G (p.Leu124=) c.918C>G (p.Leu306=) | |
| 9 | g.127824873G>T | CA467230947 | ENG | c.372C>A (p.Leu124=) c.918C>A (p.Leu306=) | COSMIC COSMIC |
| 9 | g.127824874_127824875del | CA2580079637 | ENG | c.371_372del (p.Leu124GlnfsTer27) c.917_918del (p.Leu306GlnfsTer27) | ClinVar |
| 9 | g.127824874_127824881del | CA891842558 | ENG | c.365_372del (p.Arg122GlnfsTer27) c.911_918del (p.Arg304GlnfsTer27) | ClinVar dbSNP |
| 9 | g.127824874A>C | CA374982311 | ENG | c.371T>G (p.Leu124Arg) c.917T>G (p.Leu306Arg) | |
| 9 | g.127824874A>G | CA374982314 | ENG | c.371T>C (p.Leu124Pro) c.917T>C (p.Leu306Pro) | ClinVar |
| 9 | g.127824874A>T | CA374982315 | ENG | c.371T>A (p.Leu124His) c.917T>A (p.Leu306His) | |
| 9 | g.127824875del | CA2580079638 | ENG | c.370del (p.Leu124SerfsTer?) c.916del (p.Leu306SerfsTer?) | ClinVar |
| 9 | g.127824875G>A | CA374982318 | ENG | c.370C>T (p.Leu124Phe) c.916C>T (p.Leu306Phe) | |
| 9 | g.127824875G>C | CA374982322 | ENG | c.370C>G (p.Leu124Val) c.916C>G (p.Leu306Val) | |
| 9 | g.127824875G>T | CA374982325 | ENG | c.370C>A (p.Leu124Ile) c.916C>A (p.Leu306Ile) | COSMIC COSMIC |
| 9 | g.127824876C>A | CA374982334 | ENG | c.369G>T (p.Met123Ile) c.915G>T (p.Met305Ile) | |
| 9 | g.127824876C>G | CA374982331 | ENG | c.369G>C (p.Met123Ile) c.915G>C (p.Met305Ile) | |
| 9 | g.127824876C>T | CA374982329 | ENG | c.369G>A (p.Met123Ile) c.915G>A (p.Met305Ile) | |
| 9 | g.127824877A>C | CA374982339 | ENG | c.368T>G (p.Met123Arg) c.914T>G (p.Met305Arg) | |
| 9 | g.127824877A>G | CA374982341 | ENG | c.368T>C (p.Met123Thr) c.914T>C (p.Met305Thr) | |
| 9 | g.127824877A>T | CA374982344 | ENG | c.368T>A (p.Met123Lys) c.914T>A (p.Met305Lys) | |
| 9 | g.127824878T>A | CA374982347 | ENG | c.367A>T (p.Met123Leu) c.913A>T (p.Met305Leu) | |
| 9 | g.127824878T>C | CA374982349 | ENG | c.367A>G (p.Met123Val) c.913A>G (p.Met305Val) | |
| 9 | g.127824878T>G | CA374982353 | ENG | c.367A>C (p.Met123Leu) c.913A>C (p.Met305Leu) | |
| 9 | g.127824879C>A | CA467230948 | ENG | c.366G>T (p.Arg122=) c.912G>T (p.Arg304=) | |
| 9 | g.127824879C= | CA1879973560 | ENG | c.366G= (p.Arg122=) c.912G= (p.Arg304=) | |
| 9 | g.127824879C>G | CA467230949 | ENG | c.366G>C (p.Arg122=) c.912G>C (p.Arg304=) | |
| 9 | g.127824879C>T | CA467230950 | ENG | c.366G>A (p.Arg122=) c.912G>A (p.Arg304=) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.127824880C>A | CA374982356 | ENG | c.365G>T (p.Arg122Leu) c.911G>T (p.Arg304Leu) | |
| 9 | g.127824880C= | CA1879973568 | ENG | c.365G= (p.Arg122=) c.911G= (p.Arg304=) | |
| 9 | g.127824880C>G | CA374982363 | ENG | c.365G>C (p.Arg122Pro) c.911G>C (p.Arg304Pro) | |
| 9 | g.127824880C>T | CA5252939 | ENG | c.365G>A (p.Arg122Gln) c.911G>A (p.Arg304Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127824881G>A | CA200313055 | ENG | c.364C>T (p.Arg122Trp) c.910C>T (p.Arg304Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127824881G>C | CA5252940 | ENG | c.364C>G (p.Arg122Gly) c.910C>G (p.Arg304Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127824881G= | CA1879973584 | ENG | c.364C= (p.Arg122=) c.910C= (p.Arg304=) | |
| 9 | g.127824881G>T | CA467474558 | ENG | c.364C>A (p.Arg122=) c.910C>A (p.Arg304=) | |
| 9 | g.127824883dup | CA374982369 | ENG | c.364dup (p.Arg122ProfsTer30) c.910dup (p.Arg304ProfsTer30) | dbSNP |
| 9 | g.127824883del | CA2580079639 | ENG | c.364del (p.Arg122GlyfsTer?) c.910del (p.Arg304GlyfsTer?) | ClinVar |
| 9 | g.127824882G>A | CA5252941 | ENG | c.363C>T (p.Ala121=) c.909C>T (p.Ala303=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.127824882G>C | CA467474560 | ENG | c.363C>G (p.Ala121=) c.909C>G (p.Ala303=) | |
| 9 | g.127824882G= | CA1879973599 | ENG | c.363C= (p.Ala121=) c.909C= (p.Ala303=) | |
| 9 | g.127824882G>T | CA467474561 | ENG | c.363C>A (p.Ala121=) c.909C>A (p.Ala303=) | dbSNP |
| 9 | g.127824883G>A | CA374982378 | ENG | c.362C>T (p.Ala121Val) c.908C>T (p.Ala303Val) | COSMIC COSMIC |
| 9 | g.127824883G>C | CA374982380 | ENG | c.362C>G (p.Ala121Gly) c.908C>G (p.Ala303Gly) | |
| 9 | g.127824883G>T | CA374982383 | ENG | c.362C>A (p.Ala121Asp) c.908C>A (p.Ala303Asp) | ClinVar |
| 9 | g.127824884C>A | CA374982386 | ENG | c.361G>T (p.Ala121Ser) c.907G>T (p.Ala303Ser) | |
| 9 | g.127824884C= | CA1879973605 | ENG | c.361G= (p.Ala121=) c.907G= (p.Ala303=) | |
| 9 | g.127824884C>G | CA5252942 | ENG | c.361G>C (p.Ala121Pro) c.907G>C (p.Ala303Pro) | dbSNP ExAC gnomAD v2 |
| 9 | g.127824884C>T | CA374982392 | ENG | c.361G>A (p.Ala121Thr) c.907G>A (p.Ala303Thr) | gnomAD v4 |
| 9 | g.127824885C>A | CA374982395 | ENG | c.360G>T (p.Glu120Asp) c.906G>T (p.Glu302Asp) | |
| 9 | g.127824885C>G | CA374982397 | ENG | c.360G>C (p.Glu120Asp) c.906G>C (p.Glu302Asp) | |
| 9 | g.127824885C>T | CA467474565 | ENG | c.360G>A (p.Glu120=) c.906G>A (p.Glu302=) | ClinVar |
| 9 | g.127824886T>A | CA374982414 | ENG | c.359A>T (p.Glu120Val) c.905A>T (p.Glu302Val) | |
| 9 | g.127824886T>C | CA5252943 | ENG | c.359A>G (p.Glu120Gly) c.905A>G (p.Glu302Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.127824886T>G | CA374982411 | ENG | c.359A>C (p.Glu120Ala) c.905A>C (p.Glu302Ala) | |
| 9 | g.127824886T= | CA1879973610 | ENG | c.359A= (p.Glu120=) c.905A= (p.Glu302=) | |
| 9 | g.127824887C>A | CA16612407 | ENG | c.358G>T (p.Glu120Ter) c.904G>T (p.Glu302Ter) | ClinVar dbSNP |
| 9 | g.127824887C= | CA1879973617 | ENG | c.358G= (p.Glu120=) c.904G= (p.Glu302=) | |
| 9 | g.127824887C>G | CA374982420 | ENG | c.358G>C (p.Glu120Gln) c.904G>C (p.Glu302Gln) | |
| 9 | g.127824887C>T | CA374982422 | ENG | c.358G>A (p.Glu120Lys) c.904G>A (p.Glu302Lys) | |
| 9 | g.127824891dup | CA658656033 | ENG | c.358dup (p.Glu120GlyfsTer?) c.904dup (p.Glu302GlyfsTer?) | ClinVar dbSNP |
| 9 | g.127824890_127824891dup | CA2580617564 | ENG | c.357_358dup (p.Glu120GlyfsTer?) c.903_904dup (p.Glu302GlyfsTer?) | |
| 9 | g.127824891del | CA2691808696 | ENG | c.358del (p.Glu120ArgfsTer?) c.904del (p.Glu302ArgfsTer?) | gnomAD v4 |