15 | g.65077396_65077424del | CA2628987120 | KBTBD13 | c.581_609del (p.Pro194ArgfsTer?)
| gnomAD v4 |
15 | g.65077413T>A | CA392861679 | KBTBD13 | c.598T>A (p.Leu200Met)
| |
15 | g.65077413T>C | CA490899090 | KBTBD13 | c.598T>C (p.Leu200=)
| |
15 | g.65077413T>G | CA392861682 | KBTBD13 | c.598T>G (p.Leu200Val)
| |
15 | g.65077414T>A | CA392861685 | KBTBD13 | c.599T>A (p.Leu200Ter)
| |
15 | g.65077414T>C | CA392861687 | KBTBD13 | c.599T>C (p.Leu200Ser)
| |
15 | g.65077414T>G | CA392861689 | KBTBD13 | c.599T>G (p.Leu200Trp)
| |
15 | g.65077415G>A | CA490899094 | KBTBD13 | c.600G>A (p.Leu200=)
| gnomAD v4 |
15 | g.65077415G>C | CA392861691 | KBTBD13 | c.600G>C (p.Leu200Phe)
| |
15 | g.65077415G>T | CA392861692 | KBTBD13 | c.600G>T (p.Leu200Phe)
| |
15 | g.65077420_65077437del | CA2628987124 | KBTBD13 | c.605_622del (p.Ala202_Leu207del)
| gnomAD v4 |
15 | g.65077416C>A | CA392861694 | KBTBD13 | c.601C>A (p.Leu201Met)
| dbSNP gnomAD v4 |
15 | g.65077416C= | CA2183439962 | KBTBD13 | c.601C= (p.Leu201=)
| |
15 | g.65077416C>G | CA392861696 | KBTBD13 | c.601C>G (p.Leu201Val)
| |
15 | g.65077416C>T | CA490899096 | KBTBD13 | c.601C>T (p.Leu201=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077416_65077425delinsCTGGCCGGGG | CA2183439964 | KBTBD13 | c.601_610delinsCTGGCCGGGG (p.Leu201=)
| |
15 | g.65077417T>A | CA392861701 | KBTBD13 | c.602T>A (p.Leu201Gln)
| |
15 | g.65077417T>C | CA392861703 | KBTBD13 | c.602T>C (p.Leu201Pro)
| gnomAD v4 |
15 | g.65077417T>G | CA392861699 | KBTBD13 | c.602T>G (p.Leu201Arg)
| gnomAD v4 |
15 | g.65077422_65077430del | CA915946036 | KBTBD13 | c.607_615del (p.Gly203_Ala205del)
| ClinVar dbSNP |
15 | g.65077418G>A | CA490899100 | KBTBD13 | c.603G>A (p.Leu201=)
| gnomAD v4 |
15 | g.65077418G>C | CA490899101 | KBTBD13 | c.603G>C (p.Leu201=)
| |
15 | g.65077418G>T | CA490899103 | KBTBD13 | c.603G>T (p.Leu201=)
| gnomAD v4 |
15 | g.65077419G>A | CA392861705 | KBTBD13 | c.604G>A (p.Ala202Thr)
| gnomAD v4 COSMIC |
15 | g.65077419G>C | CA392861707 | KBTBD13 | c.604G>C (p.Ala202Pro)
| |
15 | g.65077419G>T | CA392861710 | KBTBD13 | c.604G>T (p.Ala202Ser)
| gnomAD v4 |
15 | g.65077420C>A | CA392861713 | KBTBD13 | c.605C>A (p.Ala202Asp)
| gnomAD v4 |
15 | g.65077420C>G | CA392861716 | KBTBD13 | c.605C>G (p.Ala202Gly)
| |
15 | g.65077420C>T | CA392861718 | KBTBD13 | c.605C>T (p.Ala202Val)
| gnomAD v4 |
15 | g.65077421C>A | CA490899108 | KBTBD13 | c.606C>A (p.Ala202=)
| gnomAD v4 |
15 | g.65077421C= | CA2183439969 | KBTBD13 | c.606C= (p.Ala202=)
| |
15 | g.65077421C>G | CA490899109 | KBTBD13 | c.606C>G (p.Ala202=)
| |
15 | g.65077421C>T | CA7613944 | KBTBD13 | c.606C>T (p.Ala202=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077422G>A | CA392861723 | KBTBD13 | c.607G>A (p.Gly203Arg)
| ClinVar dbSNP gnomAD v4 COSMIC |
15 | g.65077422G>C | CA271503774 | KBTBD13 | c.607G>C (p.Gly203Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077422G= | CA2183439970 | KBTBD13 | c.607G= (p.Gly203=)
| |
15 | g.65077422G>T | CA392861725 | KBTBD13 | c.607G>T (p.Gly203Trp)
| gnomAD v4 |
15 | g.65077425del | CA2628987144 | KBTBD13 | c.610del (p.Val204TrpfsTer22)
| gnomAD v4 |
15 | g.65077423G>A | CA392861728 | KBTBD13 | c.608G>A (p.Gly203Glu)
| gnomAD v4 |
15 | g.65077423G>C | CA392861731 | KBTBD13 | c.608G>C (p.Gly203Ala)
| gnomAD v4 |
15 | g.65077423G>T | CA392861734 | KBTBD13 | c.608G>T (p.Gly203Val)
| gnomAD v4 |
15 | g.65077424G>A | CA7613945 | KBTBD13 | c.609G>A (p.Gly203=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.65077424G>C | CA490899114 | KBTBD13 | c.609G>C (p.Gly203=)
| |
15 | g.65077424G= | CA2183439973 | KBTBD13 | c.609G= (p.Gly203=)
| |
15 | g.65077424G>T | CA490899115 | KBTBD13 | c.609G>T (p.Gly203=)
| gnomAD v4 |
15 | g.65077425G>A | CA392861739 | KBTBD13 | c.610G>A (p.Val204Met)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077425G>C | CA392861743 | KBTBD13 | c.610G>C (p.Val204Leu)
| |
15 | g.65077425G= | CA2183439975 | KBTBD13 | c.610G= (p.Val204=)
| |
15 | g.65077425G>T | CA392861741 | KBTBD13 | c.610G>T (p.Val204Leu)
| ClinVar dbSNP gnomAD v4 |
15 | g.65077426T>A | CA392861746 | KBTBD13 | c.611T>A (p.Val204Glu)
| |
15 | g.65077426T>C | CA271503778 | KBTBD13 | c.611T>C (p.Val204Ala)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077426T>G | CA392861749 | KBTBD13 | c.611T>G (p.Val204Gly)
| |
15 | g.65077426T= | CA2183439976 | KBTBD13 | c.611T= (p.Val204=)
| |
15 | g.65077429_65077437dup | CA970810913 | KBTBD13 | c.614_622dup (p.Leu207_Gly208insAlaThrLeu)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.65077427G>A | CA490899118 | KBTBD13 | c.612G>A (p.Val204=)
| |
15 | g.65077427G>C | CA490899120 | KBTBD13 | c.612G>C (p.Val204=)
| |
15 | g.65077427G>T | CA490899122 | KBTBD13 | c.612G>T (p.Val204=)
| gnomAD v4 |
15 | g.65077428G>A | CA392861752 | KBTBD13 | c.613G>A (p.Ala205Thr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077428G>C | CA392861755 | KBTBD13 | c.613G>C (p.Ala205Pro)
| |
15 | g.65077428G= | CA2183439982 | KBTBD13 | c.613G= (p.Ala205=)
| |
15 | g.65077428G>T | CA392861758 | KBTBD13 | c.613G>T (p.Ala205Ser)
| gnomAD v4 |
15 | g.65077429C>A | CA392861763 | KBTBD13 | c.614C>A (p.Ala205Asp)
| gnomAD v4 |
15 | g.65077429C= | CA2183439983 | KBTBD13 | c.614C= (p.Ala205=)
| |
15 | g.65077429C>G | CA392861766 | KBTBD13 | c.614C>G (p.Ala205Gly)
| |
15 | g.65077429C>T | CA392861769 | KBTBD13 | c.614C>T (p.Ala205Val)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077430C>A | CA490899130 | KBTBD13 | c.615C>A (p.Ala205=)
| gnomAD v4 |
15 | g.65077430C= | CA2183439985 | KBTBD13 | c.615C= (p.Ala205=)
| |
15 | g.65077430C>G | CA490899128 | KBTBD13 | c.615C>G (p.Ala205=)
| |
15 | g.65077430C>T | CA490899126 | KBTBD13 | c.615C>T (p.Ala205=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077431A>C | CA392861773 | KBTBD13 | c.616A>C (p.Thr206Pro)
| |
15 | g.65077431A>G | CA392861776 | KBTBD13 | c.616A>G (p.Thr206Ala)
| gnomAD v4 |
15 | g.65077431A>T | CA392861779 | KBTBD13 | c.616A>T (p.Thr206Ser)
| |
15 | g.65077432C>A | CA392861782 | KBTBD13 | c.617C>A (p.Thr206Lys)
| gnomAD v4 |
15 | g.65077432C= | CA2183439986 | KBTBD13 | c.617C= (p.Thr206=)
| |
15 | g.65077432C>G | CA392861787 | KBTBD13 | c.617C>G (p.Thr206Arg)
| |
15 | g.65077432C>T | CA392861785 | KBTBD13 | c.617C>T (p.Thr206Met)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077433G>A | CA490899133 | KBTBD13 | c.618G>A (p.Thr206=)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077433G>C | CA490899135 | KBTBD13 | c.618G>C (p.Thr206=)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077433G= | CA2183439990 | KBTBD13 | c.618G= (p.Thr206=)
| |
15 | g.65077433G>T | CA490899137 | KBTBD13 | c.618G>T (p.Thr206=)
| gnomAD v4 |
15 | g.65077434C>A | CA392861792 | KBTBD13 | c.619C>A (p.Leu207Met)
| |
15 | g.65077434C= | CA2183439992 | KBTBD13 | c.619C= (p.Leu207=)
| |
15 | g.65077434C>G | CA392861794 | KBTBD13 | c.619C>G (p.Leu207Val)
| dbSNP |
15 | g.65077434C>T | CA490899141 | KBTBD13 | c.619C>T (p.Leu207=)
| gnomAD v4 |
15 | g.65077435T>A | CA271503783 | KBTBD13 | c.620T>A (p.Leu207Gln)
| dbSNP |
15 | g.65077435T>C | CA392861798 | KBTBD13 | c.620T>C (p.Leu207Pro)
| gnomAD v4 |
15 | g.65077435T>G | CA392861801 | KBTBD13 | c.620T>G (p.Leu207Arg)
| |
15 | g.65077435T= | CA2183439994 | KBTBD13 | c.620T= (p.Leu207=)
| |
15 | g.65077436G>A | CA490899143 | KBTBD13 | c.621G>A (p.Leu207=)
| dbSNP gnomAD v4 |
15 | g.65077436G>C | CA490899147 | KBTBD13 | c.621G>C (p.Leu207=)
| |
15 | g.65077436G= | CA2183439997 | KBTBD13 | c.621G= (p.Leu207=)
| |
15 | g.65077436G>T | CA490899144 | KBTBD13 | c.621G>T (p.Leu207=)
| |
15 | g.65077437G>A | CA392861805 | KBTBD13 | c.622G>A (p.Gly208Ser)
| gnomAD v4 |
15 | g.65077437G>C | CA392861808 | KBTBD13 | c.622G>C (p.Gly208Arg)
| gnomAD v4 |
15 | g.65077437G>T | CA392861809 | KBTBD13 | c.622G>T (p.Gly208Cys)
| gnomAD v4 |
15 | g.65077438G>A | CA392861810 | KBTBD13 | c.623G>A (p.Gly208Asp)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077438G>C | CA392861811 | KBTBD13 | c.623G>C (p.Gly208Ala)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077438G= | CA2183440000 | KBTBD13 | c.623G= (p.Gly208=)
| |
15 | g.65077438G>T | CA392861812 | KBTBD13 | c.623G>T (p.Gly208Val)
| gnomAD v4 |
15 | g.65077439C>A | CA7613946 | KBTBD13 | c.624C>A (p.Gly208=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077439C= | CA2183440002 | KBTBD13 | c.624C= (p.Gly208=)
| |
15 | g.65077439C>G | CA490899152 | KBTBD13 | c.624C>G (p.Gly208=)
| |
15 | g.65077439C>T | CA490899153 | KBTBD13 | c.624C>T (p.Gly208=)
| dbSNP gnomAD v4 |
15 | g.65077440A= | CA2183440005 | KBTBD13 | c.625A= (p.Asn209=)
| |
15 | g.65077440A>C | CA392861819 | KBTBD13 | c.625A>C (p.Asn209His)
| |
15 | g.65077440A>G | CA392861822 | KBTBD13 | c.625A>G (p.Asn209Asp)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.65077440A>T | CA7613947 | KBTBD13 | c.625A>T (p.Asn209Tyr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077441A= | CA2183440006 | KBTBD13 | c.626A= (p.Asn209=)
| |
15 | g.65077441A>C | CA392861833 | KBTBD13 | c.626A>C (p.Asn209Thr)
| |
15 | g.65077441A>G | CA271503807 | KBTBD13 | c.626A>G (p.Asn209Ser)
| ClinVar dbSNP |
15 | g.65077441A>T | CA392861827 | KBTBD13 | c.626A>T (p.Asn209Ile)
| |
15 | g.65077442C>A | CA392861836 | KBTBD13 | c.627C>A (p.Asn209Lys)
| dbSNP gnomAD v4 |
15 | g.65077442C>G | CA392861838 | KBTBD13 | c.627C>G (p.Asn209Lys)
| gnomAD v4 |
15 | g.65077442C>T | CA490899161 | KBTBD13 | c.627C>T (p.Asn209=)
| ClinVar |
15 | g.65077443A>C | CA392861842 | KBTBD13 | c.628A>C (p.Lys210Gln)
| gnomAD v4 |
15 | g.65077443A>G | CA392861845 | KBTBD13 | c.628A>G (p.Lys210Glu)
| gnomAD v4 |
15 | g.65077443A>T | CA392861847 | KBTBD13 | c.628A>T (p.Lys210Ter)
| |
15 | g.65077444A>C | CA392861851 | KBTBD13 | c.629A>C (p.Lys210Thr)
| |
15 | g.65077444A>G | CA392861855 | KBTBD13 | c.629A>G (p.Lys210Arg)
| gnomAD v4 |
15 | g.65077444A>T | CA392861858 | KBTBD13 | c.629A>T (p.Lys210Met)
| gnomAD v4 |
15 | g.65077445G>A | CA7613948 | KBTBD13 | c.630G>A (p.Lys210=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.65077445G>C | CA392861866 | KBTBD13 | c.630G>C (p.Lys210Asn)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077445G= | CA2183440007 | KBTBD13 | c.630G= (p.Lys210=)
| |
15 | g.65077445G>T | CA392861869 | KBTBD13 | c.630G>T (p.Lys210Asn)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077446C>A | CA392861873 | KBTBD13 | c.631C>A (p.Leu211Ile)
| gnomAD v4 |
15 | g.65077446C= | CA2183440008 | KBTBD13 | c.631C= (p.Leu211=)
| |
15 | g.65077446C>G | CA392861875 | KBTBD13 | c.631C>G (p.Leu211Val)
| |
15 | g.65077446C>T | CA392861878 | KBTBD13 | c.631C>T (p.Leu211Phe)
| dbSNP |
15 | g.65077447T>A | CA271503823 | KBTBD13 | c.632T>A (p.Leu211His)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077447T>C | CA392861888 | KBTBD13 | c.632T>C (p.Leu211Pro)
| gnomAD v4 |
15 | g.65077447T>G | CA392861883 | KBTBD13 | c.632T>G (p.Leu211Arg)
| |
15 | g.65077447T= | CA2183440012 | KBTBD13 | c.632T= (p.Leu211=)
| |
15 | g.65077449dup | CA970810924 | KBTBD13 | c.634dup (p.Tyr212LeufsTer?)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.65077447_65077452delinsTTTACA | CA2183440011 | KBTBD13 | c.632_637delinsTTTACA (p.Leu211=)
| |
15 | g.65077448T>A | CA490899174 | KBTBD13 | c.633T>A (p.Leu211=)
| |
15 | g.65077448T>C | CA490899170 | KBTBD13 | c.633T>C (p.Leu211=)
| gnomAD v4 |
15 | g.65077448T>G | CA490899173 | KBTBD13 | c.633T>G (p.Leu211=)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.65077448T= | CA2183440019 | KBTBD13 | c.633T= (p.Leu211=)
| |
15 | g.65077449_65077453del | CA7613949 | KBTBD13 | c.634_638del (p.Tyr212ArgfsTer?)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077449T>A | CA392861897 | KBTBD13 | c.634T>A (p.Tyr212Asn)
| |
15 | g.65077449T>C | CA392861901 | KBTBD13 | c.634T>C (p.Tyr212His)
| gnomAD v4 |
15 | g.65077449T>G | CA392861905 | KBTBD13 | c.634T>G (p.Tyr212Asp)
| |
15 | g.65077450A>C | CA392861907 | KBTBD13 | c.635A>C (p.Tyr212Ser)
| |
15 | g.65077450A>G | CA392861908 | KBTBD13 | c.635A>G (p.Tyr212Cys)
| gnomAD v4 |
15 | g.65077450A>T | CA392861910 | KBTBD13 | c.635A>T (p.Tyr212Phe)
| gnomAD v4 |
15 | g.65077451C>A | CA392861913 | KBTBD13 | c.636C>A (p.Tyr212Ter)
| gnomAD v4 |
15 | g.65077451C>G | CA392861916 | KBTBD13 | c.636C>G (p.Tyr212Ter)
| |
15 | g.65077451C>T | CA490899177 | KBTBD13 | c.636C>T (p.Tyr212=)
| gnomAD v4 |
15 | g.65077452A>C | CA392861923 | KBTBD13 | c.637A>C (p.Ile213Leu)
| |
15 | g.65077452A>G | CA392861925 | KBTBD13 | c.637A>G (p.Ile213Val)
| gnomAD v4 |
15 | g.65077452A>T | CA392861929 | KBTBD13 | c.637A>T (p.Ile213Phe)
| gnomAD v4 |
15 | g.65077453T>A | CA392861940 | KBTBD13 | c.638T>A (p.Ile213Asn)
| |
15 | g.65077453T>C | CA392861933 | KBTBD13 | c.638T>C (p.Ile213Thr)
| |
15 | g.65077453T>G | CA392861936 | KBTBD13 | c.638T>G (p.Ile213Ser)
| |
15 | g.65077454C>A | CA490899180 | KBTBD13 | c.639C>A (p.Ile213=)
| gnomAD v4 |
15 | g.65077454C= | CA2183440021 | KBTBD13 | c.639C= (p.Ile213=)
| |
15 | g.65077454C>G | CA392861943 | KBTBD13 | c.639C>G (p.Ile213Met)
| |
15 | g.65077454C>T | CA490899183 | KBTBD13 | c.639C>T (p.Ile213=)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.65077455G>A | CA7613950 | KBTBD13 | c.640G>A (p.Val214Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077455G>C | CA392861951 | KBTBD13 | c.640G>C (p.Val214Leu)
| gnomAD v4 |
15 | g.65077455G= | CA2183440022 | KBTBD13 | c.640G= (p.Val214=)
| |
15 | g.65077455G>T | CA392861960 | KBTBD13 | c.640G>T (p.Val214Leu)
| dbSNP gnomAD v4 |
15 | g.65077456T>A | CA392861963 | KBTBD13 | c.641T>A (p.Val214Glu)
| |
15 | g.65077456T>C | CA392861965 | KBTBD13 | c.641T>C (p.Val214Ala)
| gnomAD v4 |
15 | g.65077456T>G | CA392861969 | KBTBD13 | c.641T>G (p.Val214Gly)
| |
15 | g.65077456_65077457delinsTG | CA2183440024 | KBTBD13 | c.641_642delinsTG (p.Val214=)
| |
15 | g.65077457G>A | CA7613951 | KBTBD13 | c.642G>A (p.Val214=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.65077457G>C | CA271503860 | KBTBD13 | c.642G>C (p.Val214=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077457G= | CA2183440029 | KBTBD13 | c.642G= (p.Val214=)
| |
15 | g.65077457G>T | CA490899191 | KBTBD13 | c.642G>T (p.Val214=)
| gnomAD v4 |
15 | g.65077462dup | CA618956888 | KBTBD13 | c.647dup (p.Val217ArgfsTer?)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077462del | CA618956889 | KBTBD13 | c.647del (p.Gly216AlafsTer10)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077458G>A | CA392861977 | KBTBD13 | c.643G>A (p.Gly215Arg)
| gnomAD v4 |
15 | g.65077458G>C | CA392861980 | KBTBD13 | c.643G>C (p.Gly215Arg)
| |
15 | g.65077458G>T | CA392861983 | KBTBD13 | c.643G>T (p.Gly215Trp)
| gnomAD v4 |
15 | g.65077459G>A | CA392861995 | KBTBD13 | c.644G>A (p.Gly215Glu)
| gnomAD v4 |
15 | g.65077459G>C | CA392861991 | KBTBD13 | c.644G>C (p.Gly215Ala)
| |
15 | g.65077459G>T | CA392861988 | KBTBD13 | c.644G>T (p.Gly215Val)
| gnomAD v4 |
15 | g.65077460G>A | CA490899196 | KBTBD13 | c.645G>A (p.Gly215=)
| dbSNP gnomAD v4 |
15 | g.65077460G>C | CA490899197 | KBTBD13 | c.645G>C (p.Gly215=)
| gnomAD v4 |
15 | g.65077460G= | CA2183440032 | KBTBD13 | c.645G= (p.Gly215=)
| |
15 | g.65077460G>T | CA490899198 | KBTBD13 | c.645G>T (p.Gly215=)
| gnomAD v4 |
15 | g.65077461G>A | CA271503868 | KBTBD13 | c.646G>A (p.Gly216Ser)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
15 | g.65077461G>C | CA392862002 | KBTBD13 | c.646G>C (p.Gly216Arg)
| |
15 | g.65077461G= | CA2183440034 | KBTBD13 | c.646G= (p.Gly216=)
| |
15 | g.65077461G>T | CA392862007 | KBTBD13 | c.646G>T (p.Gly216Cys)
| gnomAD v4 |
15 | g.65077462G>A | CA392862015 | KBTBD13 | c.647G>A (p.Gly216Asp)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077462G>C | CA392862018 | KBTBD13 | c.647G>C (p.Gly216Ala)
| |
15 | g.65077462G= | CA2183440035 | KBTBD13 | c.647G= (p.Gly216=)
| |
15 | g.65077462G>T | CA392862020 | KBTBD13 | c.647G>T (p.Gly216Val)
| gnomAD v4 |
15 | g.65077463del | CA2575759313 | KBTBD13 | c.648del (p.Val217CysfsTer9)
| gnomAD v4 |
15 | g.65077463C>A | CA490899206 | KBTBD13 | c.648C>A (p.Gly216=)
| gnomAD v4 |
15 | g.65077463C= | CA2183440038 | KBTBD13 | c.648C= (p.Gly216=)
| |
15 | g.65077463C>G | CA490899209 | KBTBD13 | c.648C>G (p.Gly216=)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077463C>T | CA490899212 | KBTBD13 | c.648C>T (p.Gly216=)
| dbSNP gnomAD v4 |
15 | g.65077464G>A | CA271503874 | KBTBD13 | c.649G>A (p.Val217Met)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077464G>C | CA392862025 | KBTBD13 | c.649G>C (p.Val217Leu)
| |
15 | g.65077464G= | CA2183440043 | KBTBD13 | c.649G= (p.Val217=)
| |
15 | g.65077464G>T | CA392862022 | KBTBD13 | c.649G>T (p.Val217Leu)
| gnomAD v4 |
15 | g.65077465T>A | CA392862028 | KBTBD13 | c.650T>A (p.Val217Glu)
| gnomAD v4 |
15 | g.65077465T>C | CA392862029 | KBTBD13 | c.650T>C (p.Val217Ala)
| gnomAD v4 |
15 | g.65077465T>G | CA392862030 | KBTBD13 | c.650T>G (p.Val217Gly)
| |
15 | g.65077466G>A | CA490899217 | KBTBD13 | c.651G>A (p.Val217=)
| gnomAD v4 |
15 | g.65077466G>C | CA490899218 | KBTBD13 | c.651G>C (p.Val217=)
| |
15 | g.65077466G>T | CA490899220 | KBTBD13 | c.651G>T (p.Val217=)
| gnomAD v4 |
15 | g.65077467C>A | CA392862033 | KBTBD13 | c.652C>A (p.Arg218Ser)
| gnomAD v4 |
15 | g.65077467C= | CA2183440046 | KBTBD13 | c.652C= (p.Arg218=)
| |
15 | g.65077467C>G | CA392862044 | KBTBD13 | c.652C>G (p.Arg218Gly)
| gnomAD v4 |
15 | g.65077467C>T | CA7613952 | KBTBD13 | c.652C>T (p.Arg218Cys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077468G>A | CA392862045 | KBTBD13 | c.653G>A (p.Arg218His)
| ClinVar gnomAD v4 |
15 | g.65077468G>C | CA392862050 | KBTBD13 | c.653G>C (p.Arg218Pro)
| |
15 | g.65077468G>T | CA392862047 | KBTBD13 | c.653G>T (p.Arg218Leu)
| |
15 | g.65077469C>A | CA490899221 | KBTBD13 | c.654C>A (p.Arg218=)
| gnomAD v4 |
15 | g.65077469C= | CA2183440048 | KBTBD13 | c.654C= (p.Arg218=)
| |
15 | g.65077469C>G | CA490899222 | KBTBD13 | c.654C>G (p.Arg218=)
| gnomAD v4 |
15 | g.65077469C>T | CA490899224 | KBTBD13 | c.654C>T (p.Arg218=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077470G>A | CA392862051 | KBTBD13 | c.655G>A (p.Gly219Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077470G>C | CA392862052 | KBTBD13 | c.655G>C (p.Gly219Arg)
| gnomAD v4 |
15 | g.65077470G= | CA2183440050 | KBTBD13 | c.655G= (p.Gly219=)
| |
15 | g.65077470G>T | CA392862053 | KBTBD13 | c.655G>T (p.Gly219Cys)
| gnomAD v4 |
15 | g.65077471G>A | CA392862057 | KBTBD13 | c.656G>A (p.Gly219Asp)
| gnomAD v4 |
15 | g.65077471G>C | CA392862071 | KBTBD13 | c.656G>C (p.Gly219Ala)
| ClinVar |
15 | g.65077471G>T | CA392862075 | KBTBD13 | c.656G>T (p.Gly219Val)
| gnomAD v4 |
15 | g.65077472C>A | CA490899228 | KBTBD13 | c.657C>A (p.Gly219=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077472C= | CA2183440052 | KBTBD13 | c.657C= (p.Gly219=)
| |
15 | g.65077472C>G | CA490899229 | KBTBD13 | c.657C>G (p.Gly219=)
| |
15 | g.65077472C>T | CA490899230 | KBTBD13 | c.657C>T (p.Gly219=)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077473G>A | CA392862076 | KBTBD13 | c.658G>A (p.Ala220Thr)
| dbSNP gnomAD v4 |
15 | g.65077473G>C | CA392862077 | KBTBD13 | c.658G>C (p.Ala220Pro)
| |
15 | g.65077473G= | CA2183440054 | KBTBD13 | c.658G= (p.Ala220=)
| |
15 | g.65077473G>T | CA7613953 | KBTBD13 | c.658G>T (p.Ala220Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077473_65077474insACACCGTCTATA | CA2628987286 | KBTBD13 | c.658_659insACACCGTCTATA (p.Ala220delinsAspThrValTyrThr)
| gnomAD v4 |
15 | g.65077474C>A | CA392862083 | KBTBD13 | c.659C>A (p.Ala220Asp)
| gnomAD v4 |
15 | g.65077474C>G | CA392862086 | KBTBD13 | c.659C>G (p.Ala220Gly)
| |
15 | g.65077474C>T | CA392862089 | KBTBD13 | c.659C>T (p.Ala220Val)
| gnomAD v4 |
15 | g.65077475del | CA2628987287 | KBTBD13 | c.660del (p.Ser221AlafsTer5)
| gnomAD v4 |
15 | g.65077475C>A | CA490899234 | KBTBD13 | c.660C>A (p.Ala220=)
| gnomAD v4 |
15 | g.65077475C= | CA2183440057 | KBTBD13 | c.660C= (p.Ala220=)
| |
15 | g.65077475C>G | CA490899236 | KBTBD13 | c.660C>G (p.Ala220=)
| |
15 | g.65077475C>T | CA490899238 | KBTBD13 | c.660C>T (p.Ala220=)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077476A>C | CA392862092 | KBTBD13 | c.661A>C (p.Ser221Arg)
| |
15 | g.65077476A>G | CA392862095 | KBTBD13 | c.661A>G (p.Ser221Gly)
| gnomAD v4 |
15 | g.65077476A>T | CA392862094 | KBTBD13 | c.661A>T (p.Ser221Cys)
| gnomAD v4 |
15 | g.65077476_65077477insCCGTCTATACGGTCAACC | CA2628987301 | KBTBD13 | c.661_662insCCGTCTATACGGTCAACC (p.Ser221delinsThrValTyrThrValAsnArg)
| gnomAD v4 |
15 | g.65077476_65077477insCCGTCTATACGGTCAACCGCATGTTCACGCTGCTCTAC | CA2628987311 | KBTBD13 | c.661_662insCCGTCTATACGGTCAACCGCATGTTCACGCTGCTCTAC (p.Ser221ThrfsTer18)
| gnomAD v4 |
15 | g.65077477G>A | CA392862098 | KBTBD13 | c.662G>A (p.Ser221Asn)
| ClinVar gnomAD v4 COSMIC |
15 | g.65077477G>C | CA392862100 | KBTBD13 | c.662G>C (p.Ser221Thr)
| gnomAD v4 |
15 | g.65077477G>T | CA392862104 | KBTBD13 | c.662G>T (p.Ser221Ile)
| gnomAD v4 |
15 | g.65077478C>A | CA392862106 | KBTBD13 | c.663C>A (p.Ser221Arg)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077478C= | CA2183440060 | KBTBD13 | c.663C= (p.Ser221=)
| |
15 | g.65077478C>G | CA392862117 | KBTBD13 | c.663C>G (p.Ser221Arg)
| |
15 | g.65077478C>T | CA490899242 | KBTBD13 | c.663C>T (p.Ser221=)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077479A>C | CA392862120 | KBTBD13 | c.664A>C (p.Lys222Gln)
| |
15 | g.65077479A>G | CA392862124 | KBTBD13 | c.664A>G (p.Lys222Glu)
| gnomAD v4 |
15 | g.65077479A>T | CA392862131 | KBTBD13 | c.664A>T (p.Lys222Ter)
| |
15 | g.65077480A>C | CA392862136 | KBTBD13 | c.665A>C (p.Lys222Thr)
| |
15 | g.65077480A>G | CA392862140 | KBTBD13 | c.665A>G (p.Lys222Arg)
| gnomAD v4 |
15 | g.65077480A>T | CA392862141 | KBTBD13 | c.665A>T (p.Lys222Met)
| |
15 | g.65077481G>A | CA271503882 | KBTBD13 | c.666G>A (p.Lys222=)
| dbSNP gnomAD v4 |
15 | g.65077481G>C | CA7613954 | KBTBD13 | c.666G>C (p.Lys222Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.65077481G= | CA2183440062 | KBTBD13 | c.666G= (p.Lys222=)
| |
15 | g.65077481G>T | CA392862145 | KBTBD13 | c.666G>T (p.Lys222Asn)
| gnomAD v4 |
15 | g.65077482G>A | CA392862153 | KBTBD13 | c.667G>A (p.Glu223Lys)
| gnomAD v4 |
15 | g.65077482G>C | CA392862163 | KBTBD13 | c.667G>C (p.Glu223Gln)
| |
15 | g.65077482G>T | CA392862160 | KBTBD13 | c.667G>T (p.Glu223Ter)
| |
15 | g.65077483del | CA2628987332 | KBTBD13 | c.668del (p.Glu223GlyfsTer3)
| gnomAD v4 |
15 | g.65077483A>C | CA392862167 | KBTBD13 | c.668A>C (p.Glu223Ala)
| |
15 | g.65077483A>G | CA392862168 | KBTBD13 | c.668A>G (p.Glu223Gly)
| gnomAD v4 |
15 | g.65077483A>T | CA392862170 | KBTBD13 | c.668A>T (p.Glu223Val)
| |
15 | g.65077484G>A | CA490899248 | KBTBD13 | c.669G>A (p.Glu223=)
| |
15 | g.65077484G>C | CA392862174 | KBTBD13 | c.669G>C (p.Glu223Asp)
| gnomAD v4 |
15 | g.65077484G>T | CA392862179 | KBTBD13 | c.669G>T (p.Glu223Asp)
| gnomAD v4 |
15 | g.65077485G>A | CA7613955 | KBTBD13 | c.670G>A (p.Val224Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077485G>C | CA392862182 | KBTBD13 | c.670G>C (p.Val224Leu)
| |
15 | g.65077485G= | CA2183440066 | KBTBD13 | c.670G= (p.Val224=)
| |
15 | g.65077485G>T | CA392862184 | KBTBD13 | c.670G>T (p.Val224Leu)
| gnomAD v4 |
15 | g.65077486T>A | CA392862187 | KBTBD13 | c.671T>A (p.Val224Glu)
| |
15 | g.65077486T>C | CA392862188 | KBTBD13 | c.671T>C (p.Val224Ala)
| gnomAD v4 |
15 | g.65077486T>G | CA392862191 | KBTBD13 | c.671T>G (p.Val224Gly)
| gnomAD v4 |
15 | g.65077487G>A | CA490899251 | KBTBD13 | c.672G>A (p.Val224=)
| gnomAD v4 |
15 | g.65077487G>C | CA490899253 | KBTBD13 | c.672G>C (p.Val224=)
| |
15 | g.65077487G>T | CA490899254 | KBTBD13 | c.672G>T (p.Val224=)
| gnomAD v4 |
15 | g.65077488G>A | CA392862204 | KBTBD13 | c.673G>A (p.Val225Ile)
| gnomAD v4 |
15 | g.65077488G>C | CA392862197 | KBTBD13 | c.673G>C (p.Val225Leu)
| |
15 | g.65077488G= | CA2183440071 | KBTBD13 | c.673G= (p.Val225=)
| |
15 | g.65077488G>T | CA392862194 | KBTBD13 | c.673G>T (p.Val225Leu)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.65077489T>A | CA392862209 | KBTBD13 | c.674T>A (p.Val225Glu)
| gnomAD v4 |
15 | g.65077489T>C | CA392862208 | KBTBD13 | c.674T>C (p.Val225Ala)
| gnomAD v4 |
15 | g.65077489T>G | CA392862213 | KBTBD13 | c.674T>G (p.Val225Gly)
| |
15 | g.65077490A>C | CA490899258 | KBTBD13 | c.675A>C (p.Val225=)
| |
15 | g.65077490A>G | CA490899259 | KBTBD13 | c.675A>G (p.Val225=)
| gnomAD v4 |
15 | g.65077490A>T | CA490899260 | KBTBD13 | c.675A>T (p.Val225=)
| gnomAD v4 |
15 | g.65077490dup | CA2628987348 | KBTBD13 | c.675dup (p.Glu226ArgfsTer25)
| gnomAD v4 |
15 | g.65077491G>A | CA392862223 | KBTBD13 | c.676G>A (p.Glu226Lys)
| |
15 | g.65077491G>C | CA392862226 | KBTBD13 | c.676G>C (p.Glu226Gln)
| dbSNP gnomAD v2 |
15 | g.65077491G= | CA2183440073 | KBTBD13 | c.676G= (p.Glu226=)
| |
15 | g.65077491G>T | CA392862228 | KBTBD13 | c.676G>T (p.Glu226Ter)
| gnomAD v4 |
15 | g.65077492A= | CA2183440077 | KBTBD13 | c.677A= (p.Glu226=)
| |
15 | g.65077492A>C | CA392862234 | KBTBD13 | c.677A>C (p.Glu226Ala)
| |
15 | g.65077492A>G | CA392862237 | KBTBD13 | c.677A>G (p.Glu226Gly)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077492A>T | CA392862239 | KBTBD13 | c.677A>T (p.Glu226Val)
| |
15 | g.65077493G>A | CA490899262 | KBTBD13 | c.678G>A (p.Glu226=)
| gnomAD v4 |
15 | g.65077493G>C | CA392862244 | KBTBD13 | c.678G>C (p.Glu226Asp)
| gnomAD v4 |
15 | g.65077493G>T | CA392862245 | KBTBD13 | c.678G>T (p.Glu226Asp)
| gnomAD v4 |
15 | g.65077494C>A | CA392862264 | KBTBD13 | c.679C>A (p.Leu227Met)
| gnomAD v4 COSMIC |
15 | g.65077494C= | CA2183440079 | KBTBD13 | c.679C= (p.Leu227=)
| |
15 | g.65077494C>G | CA392862266 | KBTBD13 | c.679C>G (p.Leu227Val)
| |
15 | g.65077494C>T | CA490899264 | KBTBD13 | c.679C>T (p.Leu227=)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077495T>A | CA392862268 | KBTBD13 | c.680T>A (p.Leu227Gln)
| |
15 | g.65077495T>C | CA392862270 | KBTBD13 | c.680T>C (p.Leu227Pro)
| gnomAD v4 |
15 | g.65077495T>G | CA392862274 | KBTBD13 | c.680T>G (p.Leu227Arg)
| |
15 | g.65077496G>A | CA490899265 | KBTBD13 | c.681G>A (p.Leu227=)
| gnomAD v4 |
15 | g.65077496G>C | CA490899266 | KBTBD13 | c.681G>C (p.Leu227=)
| |
15 | g.65077496G>T | CA490899267 | KBTBD13 | c.681G>T (p.Leu227=)
| gnomAD v4 |
15 | g.65077497G>A | CA392862279 | KBTBD13 | c.682G>A (p.Gly228Ser)
| gnomAD v4 |
15 | g.65077497G>C | CA392862281 | KBTBD13 | c.682G>C (p.Gly228Arg)
| |
15 | g.65077497G>T | CA392862285 | KBTBD13 | c.682G>T (p.Gly228Cys)
| |
15 | g.65077498G>A | CA392862292 | KBTBD13 | c.683G>A (p.Gly228Asp)
| gnomAD v4 |
15 | g.65077498G>C | CA392862295 | KBTBD13 | c.683G>C (p.Gly228Ala)
| |
15 | g.65077498G>T | CA392862293 | KBTBD13 | c.683G>T (p.Gly228Val)
| gnomAD v4 |
15 | g.65077499C>A | CA490899270 | KBTBD13 | c.684C>A (p.Gly228=)
| gnomAD v4 |
15 | g.65077499C= | CA2183440080 | KBTBD13 | c.684C= (p.Gly228=)
| |
15 | g.65077499C>G | CA490899269 | KBTBD13 | c.684C>G (p.Gly228=)
| |
15 | g.65077499C>T | CA7613956 | KBTBD13 | c.684C>T (p.Gly228=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077500T>A | CA392862305 | KBTBD13 | c.685T>A (p.Phe229Ile)
| |
15 | g.65077500T>C | CA392862309 | KBTBD13 | c.685T>C (p.Phe229Leu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077500T>G | CA392862310 | KBTBD13 | c.685T>G (p.Phe229Val)
| |
15 | g.65077500T= | CA2183440084 | KBTBD13 | c.685T= (p.Phe229=)
| |
15 | g.65077501T>A | CA392862315 | KBTBD13 | c.686T>A (p.Phe229Tyr)
| |
15 | g.65077501T>C | CA271503888 | KBTBD13 | c.686T>C (p.Phe229Ser)
| dbSNP gnomAD v3 gnomAD v4 |
15 | g.65077501T>G | CA392862322 | KBTBD13 | c.686T>G (p.Phe229Cys)
| gnomAD v4 |
15 | g.65077501T= | CA2183440087 | KBTBD13 | c.686T= (p.Phe229=)
| |
15 | g.65077501_65077504delinsTCTG | CA2183440088 | KBTBD13 | c.686_689delinsTCTG (p.Phe229=)
| |
15 | g.65077502C>A | CA392862329 | KBTBD13 | c.687C>A (p.Phe229Leu)
| gnomAD v4 |
15 | g.65077502C>G | CA392862333 | KBTBD13 | c.687C>G (p.Phe229Leu)
| |
15 | g.65077502C>T | CA490899274 | KBTBD13 | c.687C>T (p.Phe229=)
| gnomAD v4 |
15 | g.65077504_65077506del | CA618956890 | KBTBD13 | c.689_691del (p.Cys230del)
| dbSNP gnomAD v2 |
15 | g.65077503T>A | CA392862338 | KBTBD13 | c.688T>A (p.Cys230Ser)
| gnomAD v4 |
15 | g.65077503T>C | CA392862342 | KBTBD13 | c.688T>C (p.Cys230Arg)
| dbSNP gnomAD v4 |
15 | g.65077503T>G | CA392862343 | KBTBD13 | c.688T>G (p.Cys230Gly)
| |
15 | g.65077503T= | CA2183440091 | KBTBD13 | c.688T= (p.Cys230=)
| |
15 | g.65077504G>A | CA392862347 | KBTBD13 | c.689G>A (p.Cys230Tyr)
| gnomAD v4 |
15 | g.65077504G>C | CA392862354 | KBTBD13 | c.689G>C (p.Cys230Ser)
| |
15 | g.65077504G>T | CA392862350 | KBTBD13 | c.689G>T (p.Cys230Phe)
| gnomAD v4 |
15 | g.65077505C>A | CA392862360 | KBTBD13 | c.690C>A (p.Cys230Ter)
| gnomAD v4 |
15 | g.65077505C>G | CA392862362 | KBTBD13 | c.690C>G (p.Cys230Trp)
| |
15 | g.65077505C>T | CA490899278 | KBTBD13 | c.690C>T (p.Cys230=)
| gnomAD v4 |
15 | g.65077506T>A | CA392862368 | KBTBD13 | c.691T>A (p.Tyr231Asn)
| |
15 | g.65077506T>C | CA392862374 | KBTBD13 | c.691T>C (p.Tyr231His)
| gnomAD v4 |
15 | g.65077506T>G | CA392862378 | KBTBD13 | c.691T>G (p.Tyr231Asp)
| |
15 | g.65077507A= | CA2183440093 | KBTBD13 | c.692A= (p.Tyr231=)
| |
15 | g.65077507A>C | CA392862382 | KBTBD13 | c.692A>C (p.Tyr231Ser)
| |
15 | g.65077507A>G | CA7613957 | KBTBD13 | c.692A>G (p.Tyr231Cys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.65077507A>T | CA392862385 | KBTBD13 | c.692A>T (p.Tyr231Phe)
| |
15 | g.65077508C>A | CA392862391 | KBTBD13 | c.693C>A (p.Tyr231Ter)
| gnomAD v4 |
15 | g.65077508C= | CA2183440096 | KBTBD13 | c.693C= (p.Tyr231=)
| |
15 | g.65077508C>G | CA392862396 | KBTBD13 | c.693C>G (p.Tyr231Ter)
| gnomAD v4 |
15 | g.65077508C>T | CA490899282 | KBTBD13 | c.693C>T (p.Tyr231=)
| dbSNP gnomAD v4 |
15 | g.65077509G>A | CA392862403 | KBTBD13 | c.694G>A (p.Asp232Asn)
| dbSNP gnomAD v4 |
15 | g.65077509G>C | CA392862406 | KBTBD13 | c.694G>C (p.Asp232His)
| |
15 | g.65077509G= | CA2183440098 | KBTBD13 | c.694G= (p.Asp232=)
| |
15 | g.65077509G>T | CA392862410 | KBTBD13 | c.694G>T (p.Asp232Tyr)
| |
15 | g.65077510A>C | CA392862428 | KBTBD13 | c.695A>C (p.Asp232Ala)
| COSMIC |
15 | g.65077510A>G | CA392862418 | KBTBD13 | c.695A>G (p.Asp232Gly)
| gnomAD v4 |
15 | g.65077510A>T | CA392862424 | KBTBD13 | c.695A>T (p.Asp232Val)
| |
15 | g.65077511C>A | CA392862433 | KBTBD13 | c.696C>A (p.Asp232Glu)
| gnomAD v4 |
15 | g.65077511C>G | CA392862438 | KBTBD13 | c.696C>G (p.Asp232Glu)
| |
15 | g.65077511C>T | CA490899283 | KBTBD13 | c.696C>T (p.Asp232=)
| gnomAD v4 |
15 | g.65077514del | CA2628987383 | KBTBD13 | c.699del (p.Asp234ThrfsTer?)
| gnomAD v4 |
15 | g.65077512C>A | CA7613958 | KBTBD13 | c.697C>A (p.Pro233Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.65077512C= | CA2183440101 | KBTBD13 | c.697C= (p.Pro233=)
| |
15 | g.65077512C>G | CA392862446 | KBTBD13 | c.697C>G (p.Pro233Ala)
| |
15 | g.65077512C>T | CA392862453 | KBTBD13 | c.697C>T (p.Pro233Ser)
| dbSNP gnomAD v2 gnomAD v4 |
15 | g.65077513C>A | CA392862454 | KBTBD13 | c.698C>A (p.Pro233His)
| gnomAD v4 |
15 | g.65077513C>G | CA392862455 | KBTBD13 | c.698C>G (p.Pro233Arg)
| |
15 | g.65077513C>T | CA392862456 | KBTBD13 | c.698C>T (p.Pro233Leu)
| gnomAD v4 |