| 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 |
| 15 | g.65077514C>A | CA490898921 | KBTBD13 | c.699C>A (p.Pro233=)
| gnomAD v4 |
| 15 | g.65077514C= | CA2183440104 | KBTBD13 | c.699C= (p.Pro233=)
| |
| 15 | g.65077514C>G | CA7613959 | KBTBD13 | c.699C>G (p.Pro233=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.65077514C>T | CA490898922 | KBTBD13 | c.699C>T (p.Pro233=)
| gnomAD v4 |
| 15 | g.65077515G>A | CA392862464 | KBTBD13 | c.700G>A (p.Asp234Asn)
| ClinVar dbSNP gnomAD v4 |
| 15 | g.65077515G>C | CA392862472 | KBTBD13 | c.700G>C (p.Asp234His)
| |
| 15 | g.65077515G= | CA2183440107 | KBTBD13 | c.700G= (p.Asp234=)
| |
| 15 | g.65077515G>T | CA392862474 | KBTBD13 | c.700G>T (p.Asp234Tyr)
| gnomAD v4 |
| 15 | g.65077516A>C | CA392862489 | KBTBD13 | c.701A>C (p.Asp234Ala)
| |
| 15 | g.65077516A>G | CA392862477 | KBTBD13 | c.701A>G (p.Asp234Gly)
| gnomAD v4 |
| 15 | g.65077516A>T | CA392862481 | KBTBD13 | c.701A>T (p.Asp234Val)
| |
| 15 | g.65077517C>A | CA392862494 | KBTBD13 | c.702C>A (p.Asp234Glu)
| gnomAD v4 |
| 15 | g.65077517C= | CA2183440110 | KBTBD13 | c.702C= (p.Asp234=)
| |
| 15 | g.65077517C>G | CA392862496 | KBTBD13 | c.702C>G (p.Asp234Glu)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.65077517C>T | CA7613960 | KBTBD13 | c.702C>T (p.Asp234=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.65077518G>A | CA392862501 | KBTBD13 | c.703G>A (p.Gly235Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.65077518G>C | CA392862504 | KBTBD13 | c.703G>C (p.Gly235Arg)
| |
| 15 | g.65077518G= | CA2183440115 | KBTBD13 | c.703G= (p.Gly235=)
| |
| 15 | g.65077518G>T | CA392862508 | KBTBD13 | c.703G>T (p.Gly235Cys)
| gnomAD v4 |
| 15 | g.65077518_65077525delinsGGCGGCAC | CA2183440112 | KBTBD13 | c.703_710delinsGGCGGCAC (p.Gly235=)
| |
| 15 | g.65077519G>A | CA392862529 | KBTBD13 | c.704G>A (p.Gly235Asp)
| gnomAD v4 |
| 15 | g.65077519G>C | CA392862525 | KBTBD13 | c.704G>C (p.Gly235Ala)
| |
| 15 | g.65077519G>T | CA392862513 | KBTBD13 | c.704G>T (p.Gly235Val)
| gnomAD v4 |
| 15 | g.65077520_65077526del | CA618956829 | KBTBD13 | c.705_711del (p.Trp238SerfsTer?)
| dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.65077520C>A | CA490898935 | KBTBD13 | c.705C>A (p.Gly235=)
| gnomAD v4 |
| 15 | g.65077520C= | CA2183440118 | KBTBD13 | c.705C= (p.Gly235=)
| |
| 15 | g.65077520C>G | CA490898934 | KBTBD13 | c.705C>G (p.Gly235=)
| gnomAD v4 |
| 15 | g.65077520C>T | CA490898933 | KBTBD13 | c.705C>T (p.Gly235=)
| dbSNP gnomAD v4 |
| 15 | g.65077521G>A | CA7613961 | KBTBD13 | c.706G>A (p.Gly236Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.65077521G>C | CA392862533 | KBTBD13 | c.706G>C (p.Gly236Arg)
| |
| 15 | g.65077521G= | CA2183440121 | KBTBD13 | c.706G= (p.Gly236=)
| |
| 15 | g.65077521G>T | CA392862536 | KBTBD13 | c.706G>T (p.Gly236Cys)
| gnomAD v4 |
| 15 | g.65077522G>A | CA392862549 | KBTBD13 | c.707G>A (p.Gly236Asp)
| dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.65077522G>C | CA392862552 | KBTBD13 | c.707G>C (p.Gly236Ala)
| |
| 15 | g.65077522G= | CA2183440125 | KBTBD13 | c.707G= (p.Gly236=)
| |
| 15 | g.65077522G>T | CA392862556 | KBTBD13 | c.707G>T (p.Gly236Val)
| |
| 15 | g.65077523C>A | CA490898940 | KBTBD13 | c.708C>A (p.Gly236=)
| gnomAD v4 |
| 15 | g.65077523C= | CA2183440128 | KBTBD13 | c.708C= (p.Gly236=)
| |
| 15 | g.65077523C>G | CA490898942 | KBTBD13 | c.708C>G (p.Gly236=)
| |
| 15 | g.65077523C>T | CA490898941 | KBTBD13 | c.708C>T (p.Gly236=)
| dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.65077524A>C | CA392862563 | KBTBD13 | c.709A>C (p.Thr237Pro)
| |
| 15 | g.65077524A>G | CA392862559 | KBTBD13 | c.709A>G (p.Thr237Ala)
| |
| 15 | g.65077524A>T | CA392862560 | KBTBD13 | c.709A>T (p.Thr237Ser)
| |
| 15 | g.65077525C>A | CA392862568 | KBTBD13 | c.710C>A (p.Thr237Lys)
| gnomAD v4 |
| 15 | g.65077525C= | CA2183440129 | KBTBD13 | c.710C= (p.Thr237=)
| |
| 15 | g.65077525C>G | CA392862571 | KBTBD13 | c.710C>G (p.Thr237Arg)
| |
| 15 | g.65077525C>T | CA271503937 | KBTBD13 | c.710C>T (p.Thr237Met)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.65077526G>A | CA7613962 | KBTBD13 | c.711G>A (p.Thr237=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.65077526G>C | CA490898946 | KBTBD13 | c.711G>C (p.Thr237=)
| dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.65077526G= | CA2183440130 | KBTBD13 | c.711G= (p.Thr237=)
| |
| 15 | g.65077526G>T | CA490898947 | KBTBD13 | c.711G>T (p.Thr237=)
| gnomAD v4 |
| 15 | g.65077527T>A | CA392862578 | KBTBD13 | c.712T>A (p.Trp238Arg)
| |
| 15 | g.65077527T>C | CA392862581 | KBTBD13 | c.712T>C (p.Trp238Arg)
| gnomAD v4 |
| 15 | g.65077527T>G | CA392862583 | KBTBD13 | c.712T>G (p.Trp238Gly)
| |
| 15 | g.65077528G>A | CA392862587 | KBTBD13 | c.713G>A (p.Trp238Ter)
| gnomAD v4 |
| 15 | g.65077528G>C | CA392862590 | KBTBD13 | c.713G>C (p.Trp238Ser)
| |
| 15 | g.65077528G>T | CA392862591 | KBTBD13 | c.713G>T (p.Trp238Leu)
| gnomAD v4 |
| 15 | g.65077529G>A | CA392862592 | KBTBD13 | c.714G>A (p.Trp238Ter)
| dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.65077529G>C | CA392862595 | KBTBD13 | c.714G>C (p.Trp238Cys)
| |
| 15 | g.65077529G= | CA2183440133 | KBTBD13 | c.714G= (p.Trp238=)
| |
| 15 | g.65077529G>T | CA392862597 | KBTBD13 | c.714G>T (p.Trp238Cys)
| |
| 15 | g.65077530C>A | CA392862600 | KBTBD13 | c.715C>A (p.His239Asn)
| gnomAD v4 |
| 15 | g.65077530C>G | CA392862610 | KBTBD13 | c.715C>G (p.His239Asp)
| |
| 15 | g.65077530C>T | CA392862604 | KBTBD13 | c.715C>T (p.His239Tyr)
| |
| 15 | g.65077531A>C | CA392862617 | KBTBD13 | c.716A>C (p.His239Pro)
| |
| 15 | g.65077531A>G | CA392862620 | KBTBD13 | c.716A>G (p.His239Arg)
| |
| 15 | g.65077531A>T | CA392862622 | KBTBD13 | c.716A>T (p.His239Leu)
| |
| 15 | g.65077532C>A | CA392862628 | KBTBD13 | c.717C>A (p.His239Gln)
| gnomAD v4 |
| 15 | g.65077532C= | CA2183440134 | KBTBD13 | c.717C= (p.His239=)
| |
| 15 | g.65077532C>G | CA271503949 | KBTBD13 | c.717C>G (p.His239Gln)
| dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.65077532C>T | CA271503951 | KBTBD13 | c.717C>T (p.His239=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.65077533G>A | CA392862637 | KBTBD13 | c.718G>A (p.Glu240Lys)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.65077533G>C | CA392862638 | KBTBD13 | c.718G>C (p.Glu240Gln)
| |
| 15 | g.65077533G= | CA2183440137 | KBTBD13 | c.718G= (p.Glu240=)
| |
| 15 | g.65077533G>T | CA392862639 | KBTBD13 | c.718G>T (p.Glu240Ter)
| dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.65077534A>C | CA392862641 | KBTBD13 | c.719A>C (p.Glu240Ala)
| |
| 15 | g.65077534A>G | CA392862644 | KBTBD13 | c.719A>G (p.Glu240Gly)
| gnomAD v4 |
| 15 | g.65077534A>T | CA392862646 | KBTBD13 | c.719A>T (p.Glu240Val)
| gnomAD v4 |
| 15 | g.65077535G>A | CA490898962 | KBTBD13 | c.720G>A (p.Glu240=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.65077535G>C | CA392862652 | KBTBD13 | c.720G>C (p.Glu240Asp)
| |
| 15 | g.65077535G= | CA2183440142 | KBTBD13 | c.720G= (p.Glu240=)
| |
| 15 | g.65077535G>T | CA392862658 | KBTBD13 | c.720G>T (p.Glu240Asp)
| gnomAD v4 |
| 15 | g.65077536T>A | CA392862676 | KBTBD13 | c.721T>A (p.Phe241Ile)
| |
| 15 | g.65077536T>C | CA392862667 | KBTBD13 | c.721T>C (p.Phe241Leu)
| gnomAD v4 |
| 15 | g.65077536T>G | CA392862672 | KBTBD13 | c.721T>G (p.Phe241Val)
| |
| 15 | g.65077537T>A | CA392862683 | KBTBD13 | c.722T>A (p.Phe241Tyr)
| |
| 15 | g.65077537T>C | CA392862687 | KBTBD13 | c.722T>C (p.Phe241Ser)
| dbSNP |
| 15 | g.65077537T>G | CA392862692 | KBTBD13 | c.722T>G (p.Phe241Cys)
| dbSNP |
| 15 | g.65077537T= | CA2183440144 | KBTBD13 | c.722T= (p.Phe241=)
| |
| 15 | g.65077538C>A | CA392862701 | KBTBD13 | c.723C>A (p.Phe241Leu)
| gnomAD v4 |
| 15 | g.65077538C= | CA2183440148 | KBTBD13 | c.723C= (p.Phe241=)
| |
| 15 | g.65077538C>G | CA392862705 | KBTBD13 | c.723C>G (p.Phe241Leu)
| |
| 15 | g.65077538C>T | CA490898970 | KBTBD13 | c.723C>T (p.Phe241=)
| dbSNP gnomAD v4 |
| 15 | g.65077541del | CA2628987438 | KBTBD13 | c.726del (p.Ser243AlafsTer?)
| gnomAD v4 |
| 15 | g.65077539C>A | CA392862711 | KBTBD13 | c.724C>A (p.Pro242Thr)
| |
| 15 | g.65077539C= | CA2183440151 | KBTBD13 | c.724C= (p.Pro242=)
| |
| 15 | g.65077539C>G | CA7613963 | KBTBD13 | c.724C>G (p.Pro242Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.65077539C>T | CA392862717 | KBTBD13 | c.724C>T (p.Pro242Ser)
| gnomAD v4 |
| 15 | g.65077539_65077549delinsCCCAGCCCGCA | CA2183440152 | KBTBD13 | c.724_734delinsCCCAGCCCGCA (p.Pro242=)
| |
| 15 | g.65077540C>A | CA392862727 | KBTBD13 | c.725C>A (p.Pro242His)
| gnomAD v4 |
| 15 | g.65077540C= | CA2183440156 | KBTBD13 | c.725C= (p.Pro242=)
| |
| 15 | g.65077540C>G | CA392862730 | KBTBD13 | c.725C>G (p.Pro242Arg)
| dbSNP |
| 15 | g.65077540C>T | CA392862732 | KBTBD13 | c.725C>T (p.Pro242Leu)
| dbSNP gnomAD v2 |
| 15 | g.65077546_65077555del | CA919576526 | KBTBD13 | c.731_740del (p.Pro244ArgfsTer?)
| dbSNP |
| 15 | g.65077541C>A | CA490898973 | KBTBD13 | c.726C>A (p.Pro242=)
| gnomAD v4 |
| 15 | g.65077541C>G | CA490898974 | KBTBD13 | c.726C>G (p.Pro242=)
| |
| 15 | g.65077541C>T | CA490898975 | KBTBD13 | c.726C>T (p.Pro242=)
| |
| 15 | g.65077542A= | CA2183440160 | KBTBD13 | c.727A= (p.Ser243=)
| |
| 15 | g.65077542A>C | CA392862742 | KBTBD13 | c.727A>C (p.Ser243Arg)
| |
| 15 | g.65077542A>G | CA392862735 | KBTBD13 | c.727A>G (p.Ser243Gly)
| dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.65077542A>T | CA392862739 | KBTBD13 | c.727A>T (p.Ser243Cys)
| gnomAD v4 |
| 15 | g.65077543G>A | CA392862746 | KBTBD13 | c.728G>A (p.Ser243Asn)
| |
| 15 | g.65077543G>C | CA392862748 | KBTBD13 | c.728G>C (p.Ser243Thr)
| gnomAD v4 |
| 15 | g.65077543G>T | CA392862750 | KBTBD13 | c.728G>T (p.Ser243Ile)
| gnomAD v4 |
| 15 | g.65077544C>A | CA392862754 | KBTBD13 | c.729C>A (p.Ser243Arg)
| gnomAD v4 |
| 15 | g.65077544C= | CA2183440163 | KBTBD13 | c.729C= (p.Ser243=)
| |
| 15 | g.65077544C>G | CA7613964 | KBTBD13 | c.729C>G (p.Ser243Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.65077544C>T | CA490898980 | KBTBD13 | c.729C>T (p.Ser243=)
| |
| 15 | g.65077545C>A | CA392862764 | KBTBD13 | c.730C>A (p.Pro244Thr)
| gnomAD v4 |
| 15 | g.65077545C= | CA2183440167 | KBTBD13 | c.730C= (p.Pro244=)
| |
| 15 | g.65077545C>G | CA392862773 | KBTBD13 | c.730C>G (p.Pro244Ala)
| |
| 15 | g.65077545C>T | CA392862779 | KBTBD13 | c.730C>T (p.Pro244Ser)
| dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.65077546_65077548dup | CA2628987440 | KBTBD13 | c.731_733dup (p.Pro244_His245insPro)
| gnomAD v4 |
| 15 | g.65077546C>A | CA392862786 | KBTBD13 | c.731C>A (p.Pro244Gln)
| gnomAD v4 |
| 15 | g.65077546C= | CA2183440170 | KBTBD13 | c.731C= (p.Pro244=)
| |
| 15 | g.65077546C>G | CA392862791 | KBTBD13 | c.731C>G (p.Pro244Arg)
| dbSNP |
| 15 | g.65077546C>T | CA392862789 | KBTBD13 | c.731C>T (p.Pro244Leu)
| dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.65077547G>A | CA7613965 | KBTBD13 | c.732G>A (p.Pro244=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.65077547G>C | CA490898987 | KBTBD13 | c.732G>C (p.Pro244=)
| dbSNP |
| 15 | g.65077547G= | CA2183440174 | KBTBD13 | c.732G= (p.Pro244=)
| |
| 15 | g.65077547G>T | CA490898989 | KBTBD13 | c.732G>T (p.Pro244=)
| gnomAD v4 |
| 15 | g.65077548C>A | CA392862795 | KBTBD13 | c.733C>A (p.His245Asn)
| gnomAD v4 |
| 15 | g.65077548C>G | CA392862797 | KBTBD13 | c.733C>G (p.His245Asp)
| |
| 15 | g.65077548C>T | CA392862800 | KBTBD13 | c.733C>T (p.His245Tyr)
| gnomAD v4 |
| 15 | g.65077549A= | CA2183440178 | KBTBD13 | c.734A= (p.His245=)
| |
| 15 | g.65077549A>C | CA271503983 | KBTBD13 | c.734A>C (p.His245Pro)
| dbSNP gnomAD v4 |
| 15 | g.65077549A>G | CA392862806 | KBTBD13 | c.734A>G (p.His245Arg)
| |
| 15 | g.65077549A>T | CA392862810 | KBTBD13 | c.734A>T (p.His245Leu)
| |
| 15 | g.65077550C>A | CA392862814 | KBTBD13 | c.735C>A (p.His245Gln)
| gnomAD v4 |
| 15 | g.65077550C>G | CA392862817 | KBTBD13 | c.735C>G (p.His245Gln)
| gnomAD v4 |
| 15 | g.65077550C>T | CA490898999 | KBTBD13 | c.735C>T (p.His245=)
| gnomAD v4 |
| 15 | g.65077552_65077555dup | CA2628987441 | KBTBD13 | c.737_740dup (p.Arg248AlafsTer4)
| gnomAD v4 |
| 15 | g.65077551C>A | CA392862820 | KBTBD13 | c.736C>A (p.Gln246Lys)
| dbSNP |
| 15 | g.65077551C= | CA2183440182 | KBTBD13 | c.736C= (p.Gln246=)
| |
| 15 | g.65077551C>G | CA392862821 | KBTBD13 | c.736C>G (p.Gln246Glu)
| |
| 15 | g.65077551C>T | CA392862823 | KBTBD13 | c.736C>T (p.Gln246Ter)
| gnomAD v4 |
| 15 | g.65077552A>C | CA392862827 | KBTBD13 | c.737A>C (p.Gln246Pro)
| |
| 15 | g.65077552A>G | CA392862828 | KBTBD13 | c.737A>G (p.Gln246Arg)
| |
| 15 | g.65077552A>T | CA392862829 | KBTBD13 | c.737A>T (p.Gln246Leu)
| |
| 15 | g.65077553G>A | CA490899005 | KBTBD13 | c.738G>A (p.Gln246=)
| ClinVar gnomAD v4 |
| 15 | g.65077553G>C | CA392862830 | KBTBD13 | c.738G>C (p.Gln246His)
| |
| 15 | g.65077553G>T | CA392862832 | KBTBD13 | c.738G>T (p.Gln246His)
| gnomAD v4 |
| 15 | g.65077554C>A | CA392862846 | KBTBD13 | c.739C>A (p.Pro247Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.65077554C= | CA2183440184 | KBTBD13 | c.739C= (p.Pro247=)
| |
| 15 | g.65077554C>G | CA392862853 | KBTBD13 | c.739C>G (p.Pro247Ala)
| |
| 15 | g.65077554C>T | CA392862856 | KBTBD13 | c.739C>T (p.Pro247Ser)
| gnomAD v4 |
| 15 | g.65077555C>A | CA271503990 | KBTBD13 | c.740C>A (p.Pro247Gln)
| dbSNP gnomAD v4 |
| 15 | g.65077555C= | CA2183440188 | KBTBD13 | c.740C= (p.Pro247=)
| |
| 15 | g.65077555C>G | CA392862861 | KBTBD13 | c.740C>G (p.Pro247Arg)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.65077555C>T | CA7613966 | KBTBD13 | c.740C>T (p.Pro247Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.65077556G>A | CA490899013 | KBTBD13 | c.741G>A (p.Pro247=)
| gnomAD v4 |
| 15 | g.65077556G>C | CA490899014 | KBTBD13 | c.741G>C (p.Pro247=)
| dbSNP |
| 15 | g.65077556G= | CA2183440191 | KBTBD13 | c.741G= (p.Pro247=)
| |
| 15 | g.65077556G>T | CA490899015 | KBTBD13 | c.741G>T (p.Pro247=)
| gnomAD v4 |
| 15 | g.65077557C>A | CA259983 | KBTBD13 | c.742C>A (p.Arg248Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.65077557C= | CA2183440199 | KBTBD13 | c.742C= (p.Arg248=)
| |
| 15 | g.65077557C>G | CA392862891 | KBTBD13 | c.742C>G (p.Arg248Gly)
| |
| 15 | g.65077557C>T | CA7613967 | KBTBD13 | c.742C>T (p.Arg248Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.65077558G>A | CA392862895 | KBTBD13 | c.743G>A (p.Arg248His)
| dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.65077558G>C | CA392862896 | KBTBD13 | c.743G>C (p.Arg248Pro)
| |
| 15 | g.65077558G= | CA2183440204 | KBTBD13 | c.743G= (p.Arg248=)
| |
| 15 | g.65077558G>T | CA392862900 | KBTBD13 | c.743G>T (p.Arg248Leu)
| gnomAD v4 |
| 15 | g.65077559C>A | CA490899021 | KBTBD13 | c.744C>A (p.Arg248=)
| gnomAD v4 |
| 15 | g.65077559C= | CA2183440207 | KBTBD13 | c.744C= (p.Arg248=)
| |
| 15 | g.65077559C>G | CA490899023 | KBTBD13 | c.744C>G (p.Arg248=)
| |
| 15 | g.65077559C>T | CA271503998 | KBTBD13 | c.744C>T (p.Arg248=)
| dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.65077560T>A | CA392862917 | KBTBD13 | c.745T>A (p.Tyr249Asn)
| |
| 15 | g.65077560T>C | CA392862905 | KBTBD13 | c.745T>C (p.Tyr249His)
| gnomAD v4 |
| 15 | g.65077560T>G | CA392862914 | KBTBD13 | c.745T>G (p.Tyr249Asp)
| |
| 15 | g.65077561A= | CA2183440210 | KBTBD13 | c.746A= (p.Tyr249=)
| |
| 15 | g.65077561A>C | CA392862922 | KBTBD13 | c.746A>C (p.Tyr249Ser)
| |
| 15 | g.65077561A>G | CA392862923 | KBTBD13 | c.746A>G (p.Tyr249Cys)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.65077561A>T | CA392862924 | KBTBD13 | c.746A>T (p.Tyr249Phe)
| |
| 15 | g.65077562T>A | CA392862925 | KBTBD13 | c.747T>A (p.Tyr249Ter)
| |
| 15 | g.65077562T>C | CA490899031 | KBTBD13 | c.747T>C (p.Tyr249=)
| |
| 15 | g.65077562T>G | CA392862927 | KBTBD13 | c.747T>G (p.Tyr249Ter)
| |
| 15 | g.65077563G>A | CA392862948 | KBTBD13 | c.748G>A (p.Asp250Asn)
| gnomAD v2 |
| 15 | g.65077563G>C | CA392862935 | KBTBD13 | c.748G>C (p.Asp250His)
| |
| 15 | g.65077563G>T | CA392862940 | KBTBD13 | c.748G>T (p.Asp250Tyr)
| |
| 15 | g.65077563_65077565delinsGAC | CA2183440212 | KBTBD13 | c.748_750delinsGAC (p.Asp250=)
| |
| 15 | g.65077564A= | CA2183440215 | KBTBD13 | c.749A= (p.Asp250=)
| |
| 15 | g.65077564A>C | CA392862949 | KBTBD13 | c.749A>C (p.Asp250Ala)
| |
| 15 | g.65077564A>G | CA392862951 | KBTBD13 | c.749A>G (p.Asp250Gly)
| |
| 15 | g.65077564A>T | CA392862953 | KBTBD13 | c.749A>T (p.Asp250Val)
| dbSNP gnomAD v4 |
| 15 | g.65077567_65077568del | CA7613968 | KBTBD13 | c.752_753del (p.Thr251SerfsTer?)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
