| 15 | g.65077568_65077572del | CA2628987444 | KBTBD13 | c.753_757del (p.Ala252GlyfsTer?)
| gnomAD v4 |
| 15 | g.65077569G>A | CA392862992 | KBTBD13 | c.754G>A (p.Ala252Thr)
| gnomAD v4 |
| 15 | g.65077569G>C | CA392862998 | KBTBD13 | c.754G>C (p.Ala252Pro)
| |
| 15 | g.65077569G>T | CA392862996 | KBTBD13 | c.754G>T (p.Ala252Ser)
| gnomAD v4 |
| 15 | g.65077570C>A | CA392863005 | KBTBD13 | c.755C>A (p.Ala252Glu)
| gnomAD v4 |
| 15 | g.65077570C= | CA2183440221 | KBTBD13 | c.755C= (p.Ala252=)
| |
| 15 | g.65077570C>G | CA392863012 | KBTBD13 | c.755C>G (p.Ala252Gly)
| gnomAD v4 |
| 15 | g.65077570C>T | CA392863009 | KBTBD13 | c.755C>T (p.Ala252Val)
| dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.65077571del | CA2628987445 | KBTBD13 | c.756del (p.Leu253TrpfsTer?)
| gnomAD v4 |
| 15 | g.65077571G>A | CA490899065 | KBTBD13 | c.756G>A (p.Ala252=)
| dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.65077571G>C | CA490899066 | KBTBD13 | c.756G>C (p.Ala252=)
| dbSNP |
| 15 | g.65077571G= | CA2183440227 | KBTBD13 | c.756G= (p.Ala252=)
| |
| 15 | g.65077571G>T | CA490899067 | KBTBD13 | c.756G>T (p.Ala252=)
| ClinVar dbSNP gnomAD v4 |
| 15 | g.65077571_65077572delinsAA | CA1139664033 | KBTBD13 | c.756_757delinsAA (p.Leu253Met)
| ClinVar dbSNP |
| 15 | g.65077571_65077572delinsGC | CA2183440229 | KBTBD13 | c.756_757delinsGC (p.Ala252=)
| |
| 15 | g.65077572C>A | CA7613971 | KBTBD13 | c.757C>A (p.Leu253Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.65077572C= | CA2183440236 | KBTBD13 | c.757C= (p.Leu253=)
| |
| 15 | g.65077572C>G | CA392863018 | KBTBD13 | c.757C>G (p.Leu253Val)
| dbSNP gnomAD v4 |
| 15 | g.65077572C>T | CA490899070 | KBTBD13 | c.757C>T (p.Leu253=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.65077573T>A | CA392863022 | KBTBD13 | c.758T>A (p.Leu253Gln)
| COSMIC |
| 15 | g.65077573T>C | CA392863027 | KBTBD13 | c.758T>C (p.Leu253Pro)
| |
| 15 | g.65077573T>G | CA392863029 | KBTBD13 | c.758T>G (p.Leu253Arg)
| |
| 15 | g.65077574G>A | CA490899074 | KBTBD13 | c.759G>A (p.Leu253=)
| gnomAD v4 |
| 15 | g.65077574G>C | CA490899072 | KBTBD13 | c.759G>C (p.Leu253=)
| |
| 15 | g.65077574G>T | CA490899071 | KBTBD13 | c.759G>T (p.Leu253=)
| |
| 15 | g.65077574_65077597del | CA2628987446 | KBTBD13 | c.759_782del (p.Ala254_Tyr261del)
| gnomAD v4 |
| 15 | g.65077575G>A | CA392863032 | KBTBD13 | c.760G>A (p.Ala254Thr)
| gnomAD v4 |
| 15 | g.65077575G>C | CA392863033 | KBTBD13 | c.760G>C (p.Ala254Pro)
| gnomAD v4 |
| 15 | g.65077575G>T | CA392863034 | KBTBD13 | c.760G>T (p.Ala254Ser)
| gnomAD v4 |
| 15 | g.65077576C>A | CA392863037 | KBTBD13 | c.761C>A (p.Ala254Asp)
| gnomAD v4 |
| 15 | g.65077576C>G | CA392863039 | KBTBD13 | c.761C>G (p.Ala254Gly)
| |
| 15 | g.65077576C>T | CA392863041 | KBTBD13 | c.761C>T (p.Ala254Val)
| gnomAD v4 |
| 15 | g.65077577C>A | CA490899077 | KBTBD13 | c.762C>A (p.Ala254=)
| gnomAD v4 |
| 15 | g.65077577C= | CA2183440241 | KBTBD13 | c.762C= (p.Ala254=)
| |
| 15 | g.65077577C>G | CA490899078 | KBTBD13 | c.762C>G (p.Ala254=)
| |
| 15 | g.65077577C>T | CA490899080 | KBTBD13 | c.762C>T (p.Ala254=)
| dbSNP gnomAD v4 |
| 15 | g.65077578G>A | CA392863052 | KBTBD13 | c.763G>A (p.Gly255Ser)
| gnomAD v4 |
| 15 | g.65077578G>C | CA392863048 | KBTBD13 | c.763G>C (p.Gly255Arg)
| |
| 15 | g.65077578G>T | CA392863047 | KBTBD13 | c.763G>T (p.Gly255Cys)
| gnomAD v4 |
| 15 | g.65077579del | CA2628987448 | KBTBD13 | c.764del (p.Gly255AlafsTer?)
| gnomAD v4 |
| 15 | g.65077579G>A | CA392863059 | KBTBD13 | c.764G>A (p.Gly255Asp)
| gnomAD v4 |
| 15 | g.65077579G>C | CA392863077 | KBTBD13 | c.764G>C (p.Gly255Ala)
| |
| 15 | g.65077579G>T | CA392863086 | KBTBD13 | c.764G>T (p.Gly255Val)
| dbSNP gnomAD v4 |
| 15 | g.65077580C>A | CA490899082 | KBTBD13 | c.765C>A (p.Gly255=)
| gnomAD v4 |
| 15 | g.65077580C= | CA2183440243 | KBTBD13 | c.765C= (p.Gly255=)
| |
| 15 | g.65077580C>G | CA490899083 | KBTBD13 | c.765C>G (p.Gly255=)
| |
| 15 | g.65077580C>T | CA490899085 | KBTBD13 | c.765C>T (p.Gly255=)
| dbSNP gnomAD v4 |
| 15 | g.65077581T>A | CA392863091 | KBTBD13 | c.766T>A (p.Phe256Ile)
| |
| 15 | g.65077581T>C | CA392863094 | KBTBD13 | c.766T>C (p.Phe256Leu)
| gnomAD v4 |
| 15 | g.65077581T>G | CA392863095 | KBTBD13 | c.766T>G (p.Phe256Val)
| |
| 15 | g.65077582T>A | CA392863096 | KBTBD13 | c.767T>A (p.Phe256Tyr)
| |
| 15 | g.65077582T>C | CA392863097 | KBTBD13 | c.767T>C (p.Phe256Ser)
| dbSNP |
| 15 | g.65077582T>G | CA392863099 | KBTBD13 | c.767T>G (p.Phe256Cys)
| |
| 15 | g.65077583C>A | CA392863102 | KBTBD13 | c.768C>A (p.Phe256Leu)
| ClinVar dbSNP gnomAD v4 |
| 15 | g.65077583C= | CA2183440246 | KBTBD13 | c.768C= (p.Phe256=)
| |
| 15 | g.65077583C>G | CA392863105 | KBTBD13 | c.768C>G (p.Phe256Leu)
| dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.65077583C>T | CA7613972 | KBTBD13 | c.768C>T (p.Phe256=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.65077584G>A | CA392863113 | KBTBD13 | c.769G>A (p.Asp257Asn)
| ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 15 | g.65077584G>C | CA7613973 | KBTBD13 | c.769G>C (p.Asp257His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.65077584G= | CA2183440254 | KBTBD13 | c.769G= (p.Asp257=)
| |
| 15 | g.65077584G>T | CA392863112 | KBTBD13 | c.769G>T (p.Asp257Tyr)
| gnomAD v4 |
| 15 | g.65077585A>C | CA392863118 | KBTBD13 | c.770A>C (p.Asp257Ala)
| |
| 15 | g.65077585A>G | CA392863120 | KBTBD13 | c.770A>G (p.Asp257Gly)
| gnomAD v4 |
| 15 | g.65077585A>T | CA392863124 | KBTBD13 | c.770A>T (p.Asp257Val)
| |
| 15 | g.65077586C>A | CA392863127 | KBTBD13 | c.771C>A (p.Asp257Glu)
| gnomAD v4 |
| 15 | g.65077586C= | CA2183440259 | KBTBD13 | c.771C= (p.Asp257=)
| |
| 15 | g.65077586C>G | CA392863131 | KBTBD13 | c.771C>G (p.Asp257Glu)
| |
| 15 | g.65077586C>T | CA490899098 | KBTBD13 | c.771C>T (p.Asp257=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.65077587G>A | CA392863136 | KBTBD13 | c.772G>A (p.Gly258Ser)
| dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.65077587G>C | CA392863140 | KBTBD13 | c.772G>C (p.Gly258Arg)
| |
| 15 | g.65077587G= | CA2183440263 | KBTBD13 | c.772G= (p.Gly258=)
| |
| 15 | g.65077587G>T | CA7613974 | KBTBD13 | c.772G>T (p.Gly258Cys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.65077588G>A | CA392863148 | KBTBD13 | c.773G>A (p.Gly258Asp)
| dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.65077588G>C | CA392863149 | KBTBD13 | c.773G>C (p.Gly258Ala)
| dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.65077588G= | CA2183440266 | KBTBD13 | c.773G= (p.Gly258=)
| |
| 15 | g.65077588G>T | CA392863150 | KBTBD13 | c.773G>T (p.Gly258Val)
| dbSNP gnomAD v4 |
| 15 | g.65077589C>A | CA490899102 | KBTBD13 | c.774C>A (p.Gly258=)
| gnomAD v4 |
| 15 | g.65077589C= | CA2183440269 | KBTBD13 | c.774C= (p.Gly258=)
| |
| 15 | g.65077589C>G | CA490899104 | KBTBD13 | c.774C>G (p.Gly258=)
| |
| 15 | g.65077589C>T | CA7613975 | KBTBD13 | c.774C>T (p.Gly258=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.65077590C>A | CA392863159 | KBTBD13 | c.775C>A (p.Arg259Ser)
| gnomAD v4 |
| 15 | g.65077590C= | CA2183440277 | KBTBD13 | c.775C= (p.Arg259=)
| |
| 15 | g.65077590C>G | CA7613977 | KBTBD13 | c.775C>G (p.Arg259Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.65077590C>T | CA7613976 | KBTBD13 | c.775C>T (p.Arg259Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.65077591G>A | CA392863163 | KBTBD13 | c.776G>A (p.Arg259His)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.65077591G>C | CA392863165 | KBTBD13 | c.776G>C (p.Arg259Pro)
| |
| 15 | g.65077591G= | CA2183440281 | KBTBD13 | c.776G= (p.Arg259=)
| |
| 15 | g.65077591G>T | CA392863168 | KBTBD13 | c.776G>T (p.Arg259Leu)
| dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.65077592C>A | CA490899105 | KBTBD13 | c.777C>A (p.Arg259=)
| gnomAD v4 |
| 15 | g.65077592C>G | CA490899106 | KBTBD13 | c.777C>G (p.Arg259=)
| |
| 15 | g.65077592C>T | CA490899107 | KBTBD13 | c.777C>T (p.Arg259=)
| gnomAD v4 |
| 15 | g.65077593C>A | CA392863172 | KBTBD13 | c.778C>A (p.Leu260Ile)
| gnomAD v4 |
| 15 | g.65077593C= | CA2183440284 | KBTBD13 | c.778C= (p.Leu260=)
| |
| 15 | g.65077593C>G | CA392863176 | KBTBD13 | c.778C>G (p.Leu260Val)
| |
| 15 | g.65077593C>T | CA7613978 | KBTBD13 | c.778C>T (p.Leu260Phe)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.65077594T>A | CA392863190 | KBTBD13 | c.779T>A (p.Leu260His)
| gnomAD v4 |
| 15 | g.65077594T>C | CA392863192 | KBTBD13 | c.779T>C (p.Leu260Pro)
| |
| 15 | g.65077594T>G | CA392863194 | KBTBD13 | c.779T>G (p.Leu260Arg)
| gnomAD v4 |
| 15 | g.65077595C>A | CA490899111 | KBTBD13 | c.780C>A (p.Leu260=)
| gnomAD v4 |
| 15 | g.65077595C= | CA2183440288 | KBTBD13 | c.780C= (p.Leu260=)
| |
| 15 | g.65077595C>G | CA490899113 | KBTBD13 | c.780C>G (p.Leu260=)
| dbSNP gnomAD v4 |
| 15 | g.65077595C>T | CA490899112 | KBTBD13 | c.780C>T (p.Leu260=)
| gnomAD v4 |
| 15 | g.65077596T>A | CA392863201 | KBTBD13 | c.781T>A (p.Tyr261Asn)
| |
| 15 | g.65077596T>C | CA7613979 | KBTBD13 | c.781T>C (p.Tyr261His)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.65077596T>G | CA392863207 | KBTBD13 | c.781T>G (p.Tyr261Asp)
| |
| 15 | g.65077596T= | CA2183440291 | KBTBD13 | c.781T= (p.Tyr261=)
| |
| 15 | g.65077597A= | CA2183440293 | KBTBD13 | c.782A= (p.Tyr261=)
| |
| 15 | g.65077597A>C | CA392863215 | KBTBD13 | c.782A>C (p.Tyr261Ser)
| |
| 15 | g.65077597A>G | CA271504040 | KBTBD13 | c.782A>G (p.Tyr261Cys)
| ClinVar dbSNP |
| 15 | g.65077597A>T | CA392863218 | KBTBD13 | c.782A>T (p.Tyr261Phe)
| |
| 15 | g.65077598C>A | CA7613980 | KBTBD13 | c.783C>A (p.Tyr261Ter)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.65077598C= | CA2183440296 | KBTBD13 | c.783C= (p.Tyr261=)
| |
| 15 | g.65077598C>G | CA392863220 | KBTBD13 | c.783C>G (p.Tyr261Ter)
| gnomAD v4 |
| 15 | g.65077598C>T | CA490899121 | KBTBD13 | c.783C>T (p.Tyr261=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.65077599G>A | CA392863225 | KBTBD13 | c.784G>A (p.Ala262Thr)
| ClinVar dbSNP gnomAD v4 |
| 15 | g.65077599G>C | CA392863229 | KBTBD13 | c.784G>C (p.Ala262Pro)
| |
| 15 | g.65077599G= | CA2183440300 | KBTBD13 | c.784G= (p.Ala262=)
| |
| 15 | g.65077599G>T | CA392863231 | KBTBD13 | c.784G>T (p.Ala262Ser)
| gnomAD v4 |
| 15 | g.65077600C>A | CA392863236 | KBTBD13 | c.785C>A (p.Ala262Asp)
| gnomAD v4 |
| 15 | g.65077600C= | CA2183440302 | KBTBD13 | c.785C= (p.Ala262=)
| |
| 15 | g.65077600C>G | CA392863239 | KBTBD13 | c.785C>G (p.Ala262Gly)
| |
| 15 | g.65077600C>T | CA392863244 | KBTBD13 | c.785C>T (p.Ala262Val)
| dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.65077601C>A | CA490899123 | KBTBD13 | c.786C>A (p.Ala262=)
| gnomAD v4 |
| 15 | g.65077601C>G | CA490899125 | KBTBD13 | c.786C>G (p.Ala262=)
| |
| 15 | g.65077601C>T | CA490899127 | KBTBD13 | c.786C>T (p.Ala262=)
| gnomAD v4 |
| 15 | g.65077602A>C | CA392863260 | KBTBD13 | c.787A>C (p.Ile263Leu)
| |
| 15 | g.65077602A>G | CA392863258 | KBTBD13 | c.787A>G (p.Ile263Val)
| gnomAD v4 |
| 15 | g.65077602A>T | CA392863257 | KBTBD13 | c.787A>T (p.Ile263Phe)
| |
| 15 | g.65077603T>A | CA392863263 | KBTBD13 | c.788T>A (p.Ile263Asn)
| |
| 15 | g.65077603T>C | CA392863268 | KBTBD13 | c.788T>C (p.Ile263Thr)
| |
| 15 | g.65077603T>G | CA392863272 | KBTBD13 | c.788T>G (p.Ile263Ser)
| |
| 15 | g.65077604C>A | CA7613982 | KBTBD13 | c.789C>A (p.Ile263=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.65077604C= | CA2183440306 | KBTBD13 | c.789C= (p.Ile263=)
| |
| 15 | g.65077604C>G | CA392863275 | KBTBD13 | c.789C>G (p.Ile263Met)
| gnomAD v4 |
| 15 | g.65077604C>T | CA7613981 | KBTBD13 | c.789C>T (p.Ile263=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.65077605G>A | CA392863299 | KBTBD13 | c.790G>A (p.Gly264Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.65077605G>C | CA7613983 | KBTBD13 | c.790G>C (p.Gly264Arg)
| dbSNP ExAC gnomAD v4 |
| 15 | g.65077605G= | CA2183440310 | KBTBD13 | c.790G= (p.Gly264=)
| |
| 15 | g.65077605G>T | CA392863289 | KBTBD13 | c.790G>T (p.Gly264Cys)
| gnomAD v4 |
| 15 | g.65077606G>A | CA392863305 | KBTBD13 | c.791G>A (p.Gly264Asp)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 15 | g.65077606G>C | CA392863308 | KBTBD13 | c.791G>C (p.Gly264Ala)
| gnomAD v4 |
| 15 | g.65077606G= | CA2183440314 | KBTBD13 | c.791G= (p.Gly264=)
| |
| 15 | g.65077606G>T | CA392863313 | KBTBD13 | c.791G>T (p.Gly264Val)
| gnomAD v4 |
| 15 | g.65077607C>A | CA490899138 | KBTBD13 | c.792C>A (p.Gly264=)
| gnomAD v4 |
| 15 | g.65077607C= | CA2183440316 | KBTBD13 | c.792C= (p.Gly264=)
| |
| 15 | g.65077607C>G | CA490899139 | KBTBD13 | c.792C>G (p.Gly264=)
| gnomAD v4 |
| 15 | g.65077607C>T | CA490899140 | KBTBD13 | c.792C>T (p.Gly264=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.65077608G>A | CA271504068 | KBTBD13 | c.793G>A (p.Gly265Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.65077608G>C | CA392863321 | KBTBD13 | c.793G>C (p.Gly265Arg)
| gnomAD v4 |
| 15 | g.65077608G= | CA2183440322 | KBTBD13 | c.793G= (p.Gly265=)
| |
| 15 | g.65077608G>T | CA7613984 | KBTBD13 | c.793G>T (p.Gly265Cys)
| dbSNP ExAC gnomAD v4 |
| 15 | g.65077609G>A | CA153246 | KBTBD13 | c.794G>A (p.Gly265Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.65077609G>C | CA392863337 | KBTBD13 | c.794G>C (p.Gly265Ala)
| |
| 15 | g.65077609G= | CA2183440330 | KBTBD13 | c.794G= (p.Gly265=)
| |
| 15 | g.65077609G>T | CA392863340 | KBTBD13 | c.794G>T (p.Gly265Val)
| gnomAD v4 |
| 15 | g.65077610C>A | CA490899142 | KBTBD13 | c.795C>A (p.Gly265=)
| |
| 15 | g.65077610C= | CA2183440333 | KBTBD13 | c.795C= (p.Gly265=)
| |
| 15 | g.65077610C>G | CA490899145 | KBTBD13 | c.795C>G (p.Gly265=)
| |
| 15 | g.65077610C>T | CA7613985 | KBTBD13 | c.795C>T (p.Gly265=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.65077611del | CA2628987451 | KBTBD13 | c.796del (p.Glu266AsnfsTer?)
| gnomAD v4 |
| 15 | g.65077611G>A | CA392863352 | KBTBD13 | c.796G>A (p.Glu266Lys)
| gnomAD v4 |
| 15 | g.65077611G>C | CA392863355 | KBTBD13 | c.796G>C (p.Glu266Gln)
| dbSNP gnomAD v2 |
| 15 | g.65077611G= | CA2183440337 | KBTBD13 | c.796G= (p.Glu266=)
| |
| 15 | g.65077611G>T | CA392863359 | KBTBD13 | c.796G>T (p.Glu266Ter)
| dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.65077612A>C | CA392863365 | KBTBD13 | c.797A>C (p.Glu266Ala)
| |
| 15 | g.65077612A>G | CA392863374 | KBTBD13 | c.797A>G (p.Glu266Gly)
| |
| 15 | g.65077612A>T | CA392863368 | KBTBD13 | c.797A>T (p.Glu266Val)
| |
| 15 | g.65077612_65077613delinsTG | CA2697549138 | KBTBD13 | c.797_798delinsTG (p.Glu266Val)
| ClinVar |
| 15 | g.65077613A= | CA2183440343 | KBTBD13 | c.798A= (p.Glu266=)
| |
| 15 | g.65077613A>C | CA392863383 | KBTBD13 | c.798A>C (p.Glu266Asp)
| dbSNP gnomAD v4 |
| 15 | g.65077613A>G | CA153249 | KBTBD13 | c.798A>G (p.Glu266=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.65077613A>T | CA392863392 | KBTBD13 | c.798A>T (p.Glu266Asp)
| dbSNP gnomAD v4 |
| 15 | g.65077613_65077614insGAGGACGCCCATCAGCAACTCTACGCCATCGGCGGCGAG | CA970811072 | KBTBD13 | c.798_799insGAGGACGCCCATCAGCAACTCTACGCCATCGGCGGCGAG (p.Glu266_Phe267insGluAspAlaHisGlnGlnLeuTyrAlaIleGlyGlyGlu)
| gnomAD v3 gnomAD v4 |
| 15 | g.65077614T>A | CA392863398 | KBTBD13 | c.799T>A (p.Phe267Ile)
| |
| 15 | g.65077614T>C | CA392863403 | KBTBD13 | c.799T>C (p.Phe267Leu)
| |
| 15 | g.65077614T>G | CA392863406 | KBTBD13 | c.799T>G (p.Phe267Val)
| |
| 15 | g.65077615T>A | CA392863416 | KBTBD13 | c.800T>A (p.Phe267Tyr)
| |
| 15 | g.65077615T>C | CA392863421 | KBTBD13 | c.800T>C (p.Phe267Ser)
| gnomAD v4 |
| 15 | g.65077615T>G | CA392863424 | KBTBD13 | c.800T>G (p.Phe267Cys)
| |
| 15 | g.65077615T= | CA2183440347 | KBTBD13 | c.800T= (p.Phe267=)
| |
| 15 | g.65077616C>A | CA392863451 | KBTBD13 | c.801C>A (p.Phe267Leu)
| dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.65077616C= | CA2183440351 | KBTBD13 | c.801C= (p.Phe267=)
| |
| 15 | g.65077616C>G | CA392863453 | KBTBD13 | c.801C>G (p.Phe267Leu)
| |
| 15 | g.65077616C>T | CA490899160 | KBTBD13 | c.801C>T (p.Phe267=)
| gnomAD v4 |
| 15 | g.65077617dup | CA7613986 | KBTBD13 | c.802dup (p.Gln268ProfsTer?)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.65077617C>A | CA392863473 | KBTBD13 | c.802C>A (p.Gln268Lys)
| gnomAD v4 |
| 15 | g.65077617C= | CA2183440354 | KBTBD13 | c.802C= (p.Gln268=)
| |
| 15 | g.65077617C>G | CA392863469 | KBTBD13 | c.802C>G (p.Gln268Glu)
| |
| 15 | g.65077617C>T | CA271504136 | KBTBD13 | c.802C>T (p.Gln268Ter)
| dbSNP gnomAD v4 |
| 15 | g.65077618A>C | CA392863479 | KBTBD13 | c.803A>C (p.Gln268Pro)
| gnomAD v4 |
| 15 | g.65077618A>G | CA392863483 | KBTBD13 | c.803A>G (p.Gln268Arg)
| gnomAD v4 |
| 15 | g.65077618A>T | CA392863487 | KBTBD13 | c.803A>T (p.Gln268Leu)
| |
| 15 | g.65077619G>A | CA490899162 | KBTBD13 | c.804G>A (p.Gln268=)
| gnomAD v4 |
| 15 | g.65077619G>C | CA392863497 | KBTBD13 | c.804G>C (p.Gln268His)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.65077619G= | CA2183440358 | KBTBD13 | c.804G= (p.Gln268=)
| |
| 15 | g.65077619G>T | CA392863501 | KBTBD13 | c.804G>T (p.Gln268His)
| gnomAD v4 |
| 15 | g.65077620A= | CA2183440360 | KBTBD13 | c.805A= (p.Arg269=)
| |
| 15 | g.65077620A>C | CA490899165 | KBTBD13 | c.805A>C (p.Arg269=)
| |
| 15 | g.65077620A>G | CA392863509 | KBTBD13 | c.805A>G (p.Arg269Gly)
| dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.65077620A>T | CA392863514 | KBTBD13 | c.805A>T (p.Arg269Trp)
| gnomAD v4 |
| 15 | g.65077621G>A | CA392863522 | KBTBD13 | c.806G>A (p.Arg269Lys)
| gnomAD v4 |
| 15 | g.65077621G>C | CA392863525 | KBTBD13 | c.806G>C (p.Arg269Thr)
| gnomAD v4 |
| 15 | g.65077621G= | CA2183440364 | KBTBD13 | c.806G= (p.Arg269=)
| |
| 15 | g.65077621G>T | CA392863528 | KBTBD13 | c.806G>T (p.Arg269Met)
| dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.65077622G>A | CA490899168 | KBTBD13 | c.807G>A (p.Arg269=)
| dbSNP gnomAD v4 |
| 15 | g.65077622G>C | CA392863541 | KBTBD13 | c.807G>C (p.Arg269Ser)
| |
| 15 | g.65077622G= | CA2183440367 | KBTBD13 | c.807G= (p.Arg269=)
| |
| 15 | g.65077622G>T | CA392863549 | KBTBD13 | c.807G>T (p.Arg269Ser)
| gnomAD v4 |
| 15 | g.65077623A>C | CA392863553 | KBTBD13 | c.808A>C (p.Thr270Pro)
| |
| 15 | g.65077623A>G | CA392863571 | KBTBD13 | c.808A>G (p.Thr270Ala)
| |
| 15 | g.65077623A>T | CA392863564 | KBTBD13 | c.808A>T (p.Thr270Ser)
| |
| 15 | g.65077624C>A | CA392863575 | KBTBD13 | c.809C>A (p.Thr270Lys)
| gnomAD v4 |
| 15 | g.65077624C= | CA2183440369 | KBTBD13 | c.809C= (p.Thr270=)
| |
| 15 | g.65077624C>G | CA392863578 | KBTBD13 | c.809C>G (p.Thr270Arg)
| dbSNP gnomAD v4 |
| 15 | g.65077624C>T | CA7613987 | KBTBD13 | c.809C>T (p.Thr270Met)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.65077625G>A | CA490899171 | KBTBD13 | c.810G>A (p.Thr270=)
| gnomAD v4 |
| 15 | g.65077625G>C | CA271504141 | KBTBD13 | c.810G>C (p.Thr270=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.65077625G= | CA2183440372 | KBTBD13 | c.810G= (p.Thr270=)
| |
| 15 | g.65077625G>T | CA490899175 | KBTBD13 | c.810G>T (p.Thr270=)
| gnomAD v4 |
| 15 | g.65077626C>A | CA392863584 | KBTBD13 | c.811C>A (p.Pro271Thr)
| gnomAD v4 |
| 15 | g.65077626C= | CA2183440377 | KBTBD13 | c.811C= (p.Pro271=)
| |
| 15 | g.65077626C>G | CA392863587 | KBTBD13 | c.811C>G (p.Pro271Ala)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.65077626C>T | CA392863590 | KBTBD13 | c.811C>T (p.Pro271Ser)
| dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.65077628del | CA2628987456 | KBTBD13 | c.813del (p.Ile272SerfsTer?)
| gnomAD v4 |
| 15 | g.65077627C>A | CA392863593 | KBTBD13 | c.812C>A (p.Pro271His)
| gnomAD v4 |
| 15 | g.65077627C= | CA2183440379 | KBTBD13 | c.812C= (p.Pro271=)
| |
| 15 | g.65077627C>G | CA392863596 | KBTBD13 | c.812C>G (p.Pro271Arg)
| gnomAD v4 |
| 15 | g.65077627C>T | CA271504161 | KBTBD13 | c.812C>T (p.Pro271Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.65077628C>A | CA490899176 | KBTBD13 | c.813C>A (p.Pro271=)
| gnomAD v4 |
| 15 | g.65077628C= | CA2183440385 | KBTBD13 | c.813C= (p.Pro271=)
| |
| 15 | g.65077628C>G | CA490899178 | KBTBD13 | c.813C>G (p.Pro271=)
| |
| 15 | g.65077628C>T | CA271504169 | KBTBD13 | c.813C>T (p.Pro271=)
| dbSNP gnomAD v4 |
| 15 | g.65077629A>C | CA392863604 | KBTBD13 | c.814A>C (p.Ile272Leu)
| gnomAD v4 |
| 15 | g.65077629A>G | CA392863608 | KBTBD13 | c.814A>G (p.Ile272Val)
| gnomAD v4 |
| 15 | g.65077629A>T | CA392863610 | KBTBD13 | c.814A>T (p.Ile272Phe)
| |
| 15 | g.65077630T>A | CA7613988 | KBTBD13 | c.815T>A (p.Ile272Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.65077630T>C | CA392863620 | KBTBD13 | c.815T>C (p.Ile272Thr)
| gnomAD v4 |
| 15 | g.65077630T>G | CA392863640 | KBTBD13 | c.815T>G (p.Ile272Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.65077630T= | CA2183440386 | KBTBD13 | c.815T= (p.Ile272=)
| |
| 15 | g.65077631C>A | CA490899184 | KBTBD13 | c.816C>A (p.Ile272=)
| dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.65077631C= | CA2183440388 | KBTBD13 | c.816C= (p.Ile272=)
| |
| 15 | g.65077631C>G | CA7613989 | KBTBD13 | c.816C>G (p.Ile272Met)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.65077631C>T | CA490899188 | KBTBD13 | c.816C>T (p.Ile272=)
| gnomAD v4 |
| 15 | g.65077632A= | CA2183440391 | KBTBD13 | c.817A= (p.Ser273=)
| |
| 15 | g.65077632A>C | CA392863648 | KBTBD13 | c.817A>C (p.Ser273Arg)
| dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.65077632A>G | CA392863653 | KBTBD13 | c.817A>G (p.Ser273Gly)
| gnomAD v4 |
| 15 | g.65077632A>T | CA392863657 | KBTBD13 | c.817A>T (p.Ser273Cys)
| gnomAD v4 |
| 15 | g.65077633G>A | CA392863660 | KBTBD13 | c.818G>A (p.Ser273Asn)
| gnomAD v4 |
| 15 | g.65077633G>C | CA392863665 | KBTBD13 | c.818G>C (p.Ser273Thr)
| |
| 15 | g.65077633G= | CA2183440393 | KBTBD13 | c.818G= (p.Ser273=)
| |
| 15 | g.65077633G>T | CA392863667 | KBTBD13 | c.818G>T (p.Ser273Ile)
| dbSNP gnomAD v4 |
| 15 | g.65077634C>A | CA392863670 | KBTBD13 | c.819C>A (p.Ser273Arg)
| dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.65077634C= | CA2183440398 | KBTBD13 | c.819C= (p.Ser273=)
| |
| 15 | g.65077634C>G | CA392863672 | KBTBD13 | c.819C>G (p.Ser273Arg)
| |
| 15 | g.65077634C>T | CA490899190 | KBTBD13 | c.819C>T (p.Ser273=)
| dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.65077635T>A | CA392863681 | KBTBD13 | c.820T>A (p.Ser274Thr)
| |
| 15 | g.65077635T>C | CA392863684 | KBTBD13 | c.820T>C (p.Ser274Pro)
| |
| 15 | g.65077635T>G | CA392863689 | KBTBD13 | c.820T>G (p.Ser274Ala)
| |
| 15 | g.65077636C>A | CA392863701 | KBTBD13 | c.821C>A (p.Ser274Tyr)
| gnomAD v4 |
| 15 | g.65077636C>G | CA392863704 | KBTBD13 | c.821C>G (p.Ser274Cys)
| |
| 15 | g.65077636C>T | CA392863697 | KBTBD13 | c.821C>T (p.Ser274Phe)
| gnomAD v4 |
| 15 | g.65077637C>A | CA490899194 | KBTBD13 | c.822C>A (p.Ser274=)
| gnomAD v4 |
| 15 | g.65077637C= | CA2183440401 | KBTBD13 | c.822C= (p.Ser274=)
| |
| 15 | g.65077637C>G | CA490899195 | KBTBD13 | c.822C>G (p.Ser274=)
| |
| 15 | g.65077637C>T | CA7613990 | KBTBD13 | c.822C>T (p.Ser274=)
| dbSNP ExAC gnomAD v3 gnomAD v4 |
| 15 | g.65077638G>A | CA392863712 | KBTBD13 | c.823G>A (p.Val275Met)
| gnomAD v4 |
| 15 | g.65077638G>C | CA392863718 | KBTBD13 | c.823G>C (p.Val275Leu)
| ClinVar dbSNP gnomAD v4 |
| 15 | g.65077638G= | CA2183440410 | KBTBD13 | c.823G= (p.Val275=)
| |
| 15 | g.65077638G>T | CA392863721 | KBTBD13 | c.823G>T (p.Val275Leu)
| gnomAD v4 |
| 15 | g.65077639T>A | CA392863726 | KBTBD13 | c.824T>A (p.Val275Glu)
| |
| 15 | g.65077639T>C | CA392863732 | KBTBD13 | c.824T>C (p.Val275Ala)
| |
| 15 | g.65077639T>G | CA392863736 | KBTBD13 | c.824T>G (p.Val275Gly)
| |
| 15 | g.65077640G>A | CA490899205 | KBTBD13 | c.825G>A (p.Val275=)
| dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.65077640G>C | CA490899207 | KBTBD13 | c.825G>C (p.Val275=)
| |
| 15 | g.65077640G= | CA2183440412 | KBTBD13 | c.825G= (p.Val275=)
| |
| 15 | g.65077640G>T | CA490899210 | KBTBD13 | c.825G>T (p.Val275=)
| gnomAD v4 |
| 15 | g.65077641del | CA2628987457 | KBTBD13 | c.826del (p.Glu276SerfsTer?)
| gnomAD v4 |
| 15 | g.65077641G>A | CA392863746 | KBTBD13 | c.826G>A (p.Glu276Lys)
| |
| 15 | g.65077641G>C | CA392863750 | KBTBD13 | c.826G>C (p.Glu276Gln)
| |
| 15 | g.65077641G= | CA2183440416 | KBTBD13 | c.826G= (p.Glu276=)
| |
| 15 | g.65077641G>T | CA392863753 | KBTBD13 | c.826G>T (p.Glu276Ter)
| dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.65077642A= | CA2183440420 | KBTBD13 | c.827A= (p.Glu276=)
| |
| 15 | g.65077642A>C | CA392863773 | KBTBD13 | c.827A>C (p.Glu276Ala)
| |
| 15 | g.65077642A>G | CA392863774 | KBTBD13 | c.827A>G (p.Glu276Gly)
| dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.65077642A>T | CA392863775 | KBTBD13 | c.827A>T (p.Glu276Val)
| |
| 15 | g.65077643G>A | CA490899284 | KBTBD13 | c.828G>A (p.Glu276=)
| gnomAD v4 |
| 15 | g.65077643G>C | CA392863792 | KBTBD13 | c.828G>C (p.Glu276Asp)
| |
| 15 | g.65077643G>T | CA392863778 | KBTBD13 | c.828G>T (p.Glu276Asp)
| gnomAD v4 |
| 15 | g.65077644C>A | CA7613991 | KBTBD13 | c.829C>A (p.Arg277Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.65077644C= | CA2183440423 | KBTBD13 | c.829C= (p.Arg277=)
| |
| 15 | g.65077644C>G | CA392863801 | KBTBD13 | c.829C>G (p.Arg277Gly)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.65077644C>T | CA392863816 | KBTBD13 | c.829C>T (p.Arg277Cys)
| gnomAD v4 |
| 15 | g.65077645G>A | CA392863819 | KBTBD13 | c.830G>A (p.Arg277His)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.65077645G>C | CA392863820 | KBTBD13 | c.830G>C (p.Arg277Pro)
| |
| 15 | g.65077645G= | CA2183440425 | KBTBD13 | c.830G= (p.Arg277=)
| |
| 15 | g.65077645G>T | CA392863821 | KBTBD13 | c.830G>T (p.Arg277Leu)
| dbSNP gnomAD v4 |
| 15 | g.65077646C>A | CA490899285 | KBTBD13 | c.831C>A (p.Arg277=)
| gnomAD v4 |
| 15 | g.65077646C= | CA2183440428 | KBTBD13 | c.831C= (p.Arg277=)
| |
| 15 | g.65077646C>G | CA7613992 | KBTBD13 | c.831C>G (p.Arg277=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.65077646C>T | CA490899286 | KBTBD13 | c.831C>T (p.Arg277=)
| |
| 15 | g.65077647T>A | CA392863828 | KBTBD13 | c.832T>A (p.Tyr278Asn)
| dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.65077647T>C | CA392863830 | KBTBD13 | c.832T>C (p.Tyr278His)
| gnomAD v4 |
| 15 | g.65077647T>G | CA392863834 | KBTBD13 | c.832T>G (p.Tyr278Asp)
| |
| 15 | g.65077647T= | CA2183440433 | KBTBD13 | c.832T= (p.Tyr278=)
| |
| 15 | g.65077648A= | CA2183440435 | KBTBD13 | c.833A= (p.Tyr278=)
| |
| 15 | g.65077648A>C | CA392863840 | KBTBD13 | c.833A>C (p.Tyr278Ser)
| |
| 15 | g.65077648A>G | CA392863848 | KBTBD13 | c.833A>G (p.Tyr278Cys)
| gnomAD v4 |
| 15 | g.65077648A>T | CA7613993 | KBTBD13 | c.833A>T (p.Tyr278Phe)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.65077649C>A | CA392863859 | KBTBD13 | c.834C>A (p.Tyr278Ter)
| gnomAD v4 COSMIC |
| 15 | g.65077649C= | CA2183440437 | KBTBD13 | c.834C= (p.Tyr278=)
| |
| 15 | g.65077649C>G | CA392863857 | KBTBD13 | c.834C>G (p.Tyr278Ter)
| |
| 15 | g.65077649C>T | CA7613994 | KBTBD13 | c.834C>T (p.Tyr278=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.65077650_65077667del | CA2628987462 | KBTBD13 | c.835_852del (p.Asp279_Cys284del)
| gnomAD v4 |
| 15 | g.65077650G>A | CA392863864 | KBTBD13 | c.835G>A (p.Asp279Asn)
| dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.65077650G>C | CA392863867 | KBTBD13 | c.835G>C (p.Asp279His)
| |
| 15 | g.65077650G= | CA2183440440 | KBTBD13 | c.835G= (p.Asp279=)
| |
| 15 | g.65077650G>T | CA392863866 | KBTBD13 | c.835G>T (p.Asp279Tyr)
| gnomAD v4 |
| 15 | g.65077651A>C | CA392863870 | KBTBD13 | c.836A>C (p.Asp279Ala)
| |
| 15 | g.65077651A>G | CA392863879 | KBTBD13 | c.836A>G (p.Asp279Gly)
| |
| 15 | g.65077651A>T | CA392863874 | KBTBD13 | c.836A>T (p.Asp279Val)
| |
| 15 | g.65077652C>A | CA392863881 | KBTBD13 | c.837C>A (p.Asp279Glu)
| dbSNP gnomAD v4 |
| 15 | g.65077652C= | CA2183440446 | KBTBD13 | c.837C= (p.Asp279=)
| |
| 15 | g.65077652C>G | CA392863882 | KBTBD13 | c.837C>G (p.Asp279Glu)
| |
| 15 | g.65077652C>T | CA490899287 | KBTBD13 | c.837C>T (p.Asp279=)
| gnomAD v4 |
| 15 | g.65077653C>A | CA392863888 | KBTBD13 | c.838C>A (p.Pro280Thr)
| gnomAD v4 |
| 15 | g.65077653C>G | CA392863889 | KBTBD13 | c.838C>G (p.Pro280Ala)
| gnomAD v4 |
| 15 | g.65077653C>T | CA392863890 | KBTBD13 | c.838C>T (p.Pro280Ser)
| gnomAD v4 |
| 15 | g.65077654C>A | CA392863892 | KBTBD13 | c.839C>A (p.Pro280Gln)
| dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.65077654C= | CA2183440450 | KBTBD13 | c.839C= (p.Pro280=)
| |
| 15 | g.65077654C>G | CA392863897 | KBTBD13 | c.839C>G (p.Pro280Arg)
| |
| 15 | g.65077654C>T | CA7613995 | KBTBD13 | c.839C>T (p.Pro280Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.65077655A>C | CA490899288 | KBTBD13 | c.840A>C (p.Pro280=)
| |
| 15 | g.65077655A>G | CA490899289 | KBTBD13 | c.840A>G (p.Pro280=)
| gnomAD v4 |
| 15 | g.65077655A>T | CA490899290 | KBTBD13 | c.840A>T (p.Pro280=)
| |
| 15 | g.65077656G>A | CA392863898 | KBTBD13 | c.841G>A (p.Ala281Thr)
| dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.65077656G>C | CA392863899 | KBTBD13 | c.841G>C (p.Ala281Pro)
| |
| 15 | g.65077656G= | CA2183440453 | KBTBD13 | c.841G= (p.Ala281=)
| |
| 15 | g.65077656G>T | CA392863902 | KBTBD13 | c.841G>T (p.Ala281Ser)
| dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.65077657C>A | CA392863921 | KBTBD13 | c.842C>A (p.Ala281Asp)
| dbSNP |
| 15 | g.65077657C= | CA2183440456 | KBTBD13 | c.842C= (p.Ala281=)
| |
| 15 | g.65077657C>G | CA392863919 | KBTBD13 | c.842C>G (p.Ala281Gly)
| |
| 15 | g.65077657C>T | CA392863914 | KBTBD13 | c.842C>T (p.Ala281Val)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.65077658C>A | CA490899291 | KBTBD13 | c.843C>A (p.Ala281=)
| |
| 15 | g.65077658C= | CA2183440458 | KBTBD13 | c.843C= (p.Ala281=)
| |
| 15 | g.65077658C>G | CA490899292 | KBTBD13 | c.843C>G (p.Ala281=)
| dbSNP gnomAD v4 |
| 15 | g.65077658C>T | CA490899293 | KBTBD13 | c.843C>T (p.Ala281=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.65077659G>A | CA7613996 | KBTBD13 | c.844G>A (p.Ala282Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.65077659G>C | CA392863925 | KBTBD13 | c.844G>C (p.Ala282Pro)
| |
| 15 | g.65077659G= | CA2183440461 | KBTBD13 | c.844G= (p.Ala282=)
| |
| 15 | g.65077659G>T | CA392863928 | KBTBD13 | c.844G>T (p.Ala282Ser)
| gnomAD v4 |
| 15 | g.65077660C>A | CA392863937 | KBTBD13 | c.845C>A (p.Ala282Glu)
| gnomAD v4 |
| 15 | g.65077660C= | CA2183440465 | KBTBD13 | c.845C= (p.Ala282=)
| |
| 15 | g.65077660C>G | CA392863942 | KBTBD13 | c.845C>G (p.Ala282Gly)
| dbSNP gnomAD v2 |
| 15 | g.65077660C>T | CA392863945 | KBTBD13 | c.845C>T (p.Ala282Val)
| gnomAD v4 |
| 15 | g.65077661G>A | CA490899294 | KBTBD13 | c.846G>A (p.Ala282=)
| gnomAD v4 |
| 15 | g.65077661G>C | CA490899295 | KBTBD13 | c.846G>C (p.Ala282=)
| gnomAD v4 |
| 15 | g.65077661G>T | CA490899296 | KBTBD13 | c.846G>T (p.Ala282=)
| gnomAD v4 |
| 15 | g.65077663dup | CA1139532849 | KBTBD13 | c.848dup (p.Cys284LeufsTer?)
| ClinVar dbSNP gnomAD v4 |
| 15 | g.65077662G>A | CA7613997 | KBTBD13 | c.847G>A (p.Gly283Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.65077662G>C | CA392863949 | KBTBD13 | c.847G>C (p.Gly283Arg)
| |
| 15 | g.65077662G= | CA2183440469 | KBTBD13 | c.847G= (p.Gly283=)
| |
| 15 | g.65077662G>T | CA392863951 | KBTBD13 | c.847G>T (p.Gly283Cys)
| gnomAD v4 |
| 15 | g.65077663G>A | CA271504216 | KBTBD13 | c.848G>A (p.Gly283Asp)
| dbSNP gnomAD v4 |
| 15 | g.65077663G>C | CA392863958 | KBTBD13 | c.848G>C (p.Gly283Ala)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.65077663G= | CA2183440473 | KBTBD13 | c.848G= (p.Gly283=)
| |
| 15 | g.65077663G>T | CA392863964 | KBTBD13 | c.848G>T (p.Gly283Val)
| gnomAD v4 |
| 15 | g.65077664C>A | CA490899298 | KBTBD13 | c.849C>A (p.Gly283=)
| gnomAD v4 |
| 15 | g.65077664C= | CA2183440476 | KBTBD13 | c.849C= (p.Gly283=)
| |
| 15 | g.65077664C>G | CA490899297 | KBTBD13 | c.849C>G (p.Gly283=)
| |
| 15 | g.65077664C>T | CA7613998 | KBTBD13 | c.849C>T (p.Gly283=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.65077665T>A | CA392863982 | KBTBD13 | c.850T>A (p.Cys284Ser)
| |
| 15 | g.65077665T>C | CA392863975 | KBTBD13 | c.850T>C (p.Cys284Arg)
| |
| 15 | g.65077665T>G | CA271504237 | KBTBD13 | c.850T>G (p.Cys284Gly)
| dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.65077665T= | CA2183440479 | KBTBD13 | c.850T= (p.Cys284=)
| |
| 15 | g.65077665_65077666insA | CA2523654557 | KBTBD13 | c.850_851insA (p.Cys284Ter)
| |
| 15 | g.65077666G>A | CA7613999 | KBTBD13 | c.851G>A (p.Cys284Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.65077666G>C | CA392863995 | KBTBD13 | c.851G>C (p.Cys284Ser)
| |
| 15 | g.65077666G= | CA2183440481 | KBTBD13 | c.851G= (p.Cys284=)
| |
| 15 | g.65077666G>T | CA392864012 | KBTBD13 | c.851G>T (p.Cys284Phe)
| gnomAD v4 |
| 15 | g.65077667C>A | CA392864016 | KBTBD13 | c.852C>A (p.Cys284Ter)
| |
| 15 | g.65077667C= | CA2183440483 | KBTBD13 | c.852C= (p.Cys284=)
| |
| 15 | g.65077667C>G | CA392864017 | KBTBD13 | c.852C>G (p.Cys284Trp)
| |
| 15 | g.65077667C>T | CA490899299 | KBTBD13 | c.852C>T (p.Cys284=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.65077668T>A | CA392864018 | KBTBD13 | c.853T>A (p.Trp285Arg)
| gnomAD v4 |
| 15 | g.65077668T>C | CA7614000 | KBTBD13 | c.853T>C (p.Trp285Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.65077668T>G | CA392864021 | KBTBD13 | c.853T>G (p.Trp285Gly)
| |
| 15 | g.65077668T= | CA2183440485 | KBTBD13 | c.853T= (p.Trp285=)
| |
| 15 | g.65077669G>A | CA392864024 | KBTBD13 | c.854G>A (p.Trp285Ter)
| |
| 15 | g.65077669G>C | CA392864026 | KBTBD13 | c.854G>C (p.Trp285Ser)
| gnomAD v4 |
| 15 | g.65077669G>T | CA392864027 | KBTBD13 | c.854G>T (p.Trp285Leu)
| gnomAD v4 |
