17 | g.80104170_80104729del | CA2697555214 | GAA | c.-32-385_143del
| ClinVar |
17 | g.80104642T>A | CA401360077 | GAA | c.56T>A (p.Val19Glu)
| |
17 | g.80104642T>C | CA401360079 | GAA | c.56T>C (p.Val19Ala)
| gnomAD v4 |
17 | g.80104642T>G | CA401360081 | GAA | c.56T>G (p.Val19Gly)
| |
17 | g.80104643G>A | CA502177014 | GAA | c.57G>A (p.Val19=)
| |
17 | g.80104643G>C | CA502177016 | GAA | c.57G>C (p.Val19=)
| |
17 | g.80104643G>T | CA502177020 | GAA | c.57G>T (p.Val19=)
| |
17 | g.80104644T>A | CA401360089 | GAA | c.58T>A (p.Ser20Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104644T>C | CA401360084 | GAA | c.58T>C (p.Ser20Pro)
| |
17 | g.80104644T>G | CA401360086 | GAA | c.58T>G (p.Ser20Ala)
| |
17 | g.80104644T= | CA2277810563 | GAA | c.58T= (p.Ser20=)
| |
17 | g.80104645C>A | CA401360091 | GAA | c.59C>A (p.Ser20Tyr)
| |
17 | g.80104645C= | CA2277810564 | GAA | c.59C= (p.Ser20=)
| |
17 | g.80104645C>G | CA16607527 | GAA | c.59C>G (p.Ser20Cys)
| ClinVar dbSNP gnomAD v4 |
17 | g.80104645C>T | CA8814775 | GAA | c.59C>T (p.Ser20Phe)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80104646C>A | CA502177027 | GAA | c.60C>A (p.Ser20=)
| |
17 | g.80104646C= | CA2277810565 | GAA | c.60C= (p.Ser20=)
| |
17 | g.80104646C>G | CA502177028 | GAA | c.60C>G (p.Ser20=)
| dbSNP gnomAD v4 |
17 | g.80104646C>T | CA502177029 | GAA | c.60C>T (p.Ser20=)
| |
17 | g.80104647T>A | CA401360095 | GAA | c.61T>A (p.Leu21Met)
| |
17 | g.80104647T>C | CA502177030 | GAA | c.61T>C (p.Leu21=)
| |
17 | g.80104647T>G | CA401360097 | GAA | c.61T>G (p.Leu21Val)
| |
17 | g.80104648T>A | CA401360100 | GAA | c.62T>A (p.Leu21Ter)
| |
17 | g.80104648T>C | CA401360104 | GAA | c.62T>C (p.Leu21Ser)
| |
17 | g.80104648T>G | CA401360102 | GAA | c.62T>G (p.Leu21Trp)
| |
17 | g.80104649G>A | CA502177034 | GAA | c.63G>A (p.Leu21=)
| |
17 | g.80104649G>C | CA401360106 | GAA | c.63G>C (p.Leu21Phe)
| |
17 | g.80104649G>T | CA401360108 | GAA | c.63G>T (p.Leu21Phe)
| gnomAD v4 |
17 | g.80104650G>A | CA401360111 | GAA | c.64G>A (p.Ala22Thr)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80104650G>C | CA401360113 | GAA | c.64G>C (p.Ala22Pro)
| |
17 | g.80104650G= | CA2277810566 | GAA | c.64G= (p.Ala22=)
| |
17 | g.80104650G>T | CA401360116 | GAA | c.64G>T (p.Ala22Ser)
| |
17 | g.80104651C>A | CA401360119 | GAA | c.65C>A (p.Ala22Glu)
| gnomAD v4 |
17 | g.80104651C= | CA2277810567 | GAA | c.65C= (p.Ala22=)
| |
17 | g.80104651C>G | CA401360121 | GAA | c.65C>G (p.Ala22Gly)
| |
17 | g.80104651C>T | CA8814776 | GAA | c.65C>T (p.Ala22Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80104652A>C | CA502177040 | GAA | c.66A>C (p.Ala22=)
| gnomAD v4 |
17 | g.80104652A>G | CA502177041 | GAA | c.66A>G (p.Ala22=)
| |
17 | g.80104652A>T | CA502177043 | GAA | c.66A>T (p.Ala22=)
| gnomAD v4 |
17 | g.80104653A= | CA2277810568 | GAA | c.67A= (p.Thr23=)
| |
17 | g.80104653A>C | CA401360126 | GAA | c.67A>C (p.Thr23Pro)
| gnomAD v4 |
17 | g.80104653A>G | CA8814777 | GAA | c.67A>G (p.Thr23Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104653A>T | CA401360129 | GAA | c.67A>T (p.Thr23Ser)
| |
17 | g.80104654C>A | CA401360132 | GAA | c.68C>A (p.Thr23Asn)
| |
17 | g.80104654C= | CA2277810569 | GAA | c.68C= (p.Thr23=)
| |
17 | g.80104654C>G | CA401360136 | GAA | c.68C>G (p.Thr23Ser)
| |
17 | g.80104654C>T | CA401360134 | GAA | c.68C>T (p.Thr23Ile)
| ClinVar dbSNP |
17 | g.80104655C>A | CA8814778 | GAA | c.69C>A (p.Thr23=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80104655C= | CA2277810570 | GAA | c.69C= (p.Thr23=)
| |
17 | g.80104655C>G | CA502177050 | GAA | c.69C>G (p.Thr23=)
| gnomAD v4 |
17 | g.80104655C>T | CA8814779 | GAA | c.69C>T (p.Thr23=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104656G>A | CA8814780 | GAA | c.70G>A (p.Ala24Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104656G>C | CA401360144 | GAA | c.70G>C (p.Ala24Pro)
| |
17 | g.80104656G= | CA2277810571 | GAA | c.70G= (p.Ala24=)
| |
17 | g.80104656G>T | CA401360146 | GAA | c.70G>T (p.Ala24Ser)
| |
17 | g.80104657C>A | CA401360149 | GAA | c.71C>A (p.Ala24Asp)
| |
17 | g.80104657C= | CA2277810572 | GAA | c.71C= (p.Ala24=)
| |
17 | g.80104657C>G | CA401360152 | GAA | c.71C>G (p.Ala24Gly)
| |
17 | g.80104657C>T | CA294886529 | GAA | c.71C>T (p.Ala24Val)
| dbSNP |
17 | g.80104658T>A | CA502177056 | GAA | c.72T>A (p.Ala24=)
| |
17 | g.80104658T>C | CA8814781 | GAA | c.72T>C (p.Ala24=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80104658T>G | CA502177059 | GAA | c.72T>G (p.Ala24=)
| |
17 | g.80104658T= | CA2277810573 | GAA | c.72T= (p.Ala24=)
| |
17 | g.80104659G>A | CA401360158 | GAA | c.73G>A (p.Ala25Thr)
| gnomAD v4 |
17 | g.80104659G>C | CA401360161 | GAA | c.73G>C (p.Ala25Pro)
| |
17 | g.80104659G>T | CA401360163 | GAA | c.73G>T (p.Ala25Ser)
| gnomAD v4 |
17 | g.80104663_80104673del | CA2640274215 | GAA | c.77_87del (p.Leu26HisfsTer5)
| gnomAD v4 |
17 | g.80104660C>A | CA401360170 | GAA | c.74C>A (p.Ala25Glu)
| |
17 | g.80104660C= | CA2277810574 | GAA | c.74C= (p.Ala25=)
| |
17 | g.80104660C>G | CA401360166 | GAA | c.74C>G (p.Ala25Gly)
| |
17 | g.80104660C>T | CA8814782 | GAA | c.74C>T (p.Ala25Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80104661A= | CA2277810575 | GAA | c.75A= (p.Ala25=)
| |
17 | g.80104661A>C | CA502177064 | GAA | c.75A>C (p.Ala25=)
| ClinVar dbSNP |
17 | g.80104661A>G | CA502177066 | GAA | c.75A>G (p.Ala25=)
| ClinVar dbSNP gnomAD v4 |
17 | g.80104661A>T | CA502177068 | GAA | c.75A>T (p.Ala25=)
| ClinVar |
17 | g.80104662C>A | CA401360172 | GAA | c.76C>A (p.Leu26Ile)
| |
17 | g.80104662C= | CA2277810576 | GAA | c.76C= (p.Leu26=)
| |
17 | g.80104662C>G | CA401360174 | GAA | c.76C>G (p.Leu26Val)
| |
17 | g.80104662C>T | CA8814783 | GAA | c.76C>T (p.Leu26Phe)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104663T>A | CA401360178 | GAA | c.77T>A (p.Leu26His)
| |
17 | g.80104663T>C | CA401360180 | GAA | c.77T>C (p.Leu26Pro)
| |
17 | g.80104663T>G | CA401360183 | GAA | c.77T>G (p.Leu26Arg)
| ClinVar dbSNP |
17 | g.80104663T= | CA2277810577 | GAA | c.77T= (p.Leu26=)
| |
17 | g.80104664C>A | CA502177073 | GAA | c.78C>A (p.Leu26=)
| |
17 | g.80104664C>G | CA502177074 | GAA | c.78C>G (p.Leu26=)
| |
17 | g.80104664C>T | CA502177072 | GAA | c.78C>T (p.Leu26=)
| ClinVar dbSNP gnomAD v4 |
17 | g.80104665C>A | CA401360186 | GAA | c.79C>A (p.Leu27Met)
| |
17 | g.80104665C= | CA2277810578 | GAA | c.79C= (p.Leu27=)
| |
17 | g.80104665C>G | CA8814784 | GAA | c.79C>G (p.Leu27Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104665C>T | CA502177075 | GAA | c.79C>T (p.Leu27=)
| ClinVar dbSNP gnomAD v4 |
17 | g.80104666T>A | CA401360189 | GAA | c.80T>A (p.Leu27Gln)
| |
17 | g.80104666T>C | CA401360190 | GAA | c.80T>C (p.Leu27Pro)
| |
17 | g.80104666T>G | CA401360192 | GAA | c.80T>G (p.Leu27Arg)
| |
17 | g.80104667G>A | CA502177076 | GAA | c.81G>A (p.Leu27=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104667G>C | CA502177077 | GAA | c.81G>C (p.Leu27=)
| |
17 | g.80104667G= | CA2277810579 | GAA | c.81G= (p.Leu27=)
| |
17 | g.80104667G>T | CA502177078 | GAA | c.81G>T (p.Leu27=)
| gnomAD v4 |
17 | g.80104670dup | CA2695200345 | GAA | c.84dup (p.His29AlafsTer6)
| ClinVar |
17 | g.80104668G>A | CA294886548 | GAA | c.82G>A (p.Gly28Arg)
| dbSNP |
17 | g.80104668G>C | CA401360197 | GAA | c.82G>C (p.Gly28Arg)
| |
17 | g.80104668G= | CA2277810580 | GAA | c.82G= (p.Gly28=)
| |
17 | g.80104668G>T | CA401360195 | GAA | c.82G>T (p.Gly28Trp)
| |
17 | g.80104669G>A | CA401360200 | GAA | c.83G>A (p.Gly28Glu)
| dbSNP gnomAD v4 |
17 | g.80104669G>C | CA401360202 | GAA | c.83G>C (p.Gly28Ala)
| |
17 | g.80104669G= | CA2277810581 | GAA | c.83G= (p.Gly28=)
| |
17 | g.80104669G>T | CA10604460 | GAA | c.83G>T (p.Gly28Val)
| ClinVar dbSNP |
17 | g.80104670G>A | CA8814785 | GAA | c.84G>A (p.Gly28=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80104670G>C | CA502177080 | GAA | c.84G>C (p.Gly28=)
| ClinVar |
17 | g.80104670G= | CA2277810582 | GAA | c.84G= (p.Gly28=)
| |
17 | g.80104670G>T | CA502177079 | GAA | c.84G>T (p.Gly28=)
| |
17 | g.80104671C>A | CA401360209 | GAA | c.85C>A (p.His29Asn)
| |
17 | g.80104671C= | CA2277810583 | GAA | c.85C= (p.His29=)
| |
17 | g.80104671C>G | CA401360211 | GAA | c.85C>G (p.His29Asp)
| |
17 | g.80104671C>T | CA294886572 | GAA | c.85C>T (p.His29Tyr)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80104672A>C | CA401360220 | GAA | c.86A>C (p.His29Pro)
| |
17 | g.80104672A>G | CA401360215 | GAA | c.86A>G (p.His29Arg)
| |
17 | g.80104672A>T | CA401360217 | GAA | c.86A>T (p.His29Leu)
| |
17 | g.80104673C>A | CA401360221 | GAA | c.87C>A (p.His29Gln)
| |
17 | g.80104673C= | CA2277810584 | GAA | c.87C= (p.His29=)
| |
17 | g.80104673C>G | CA401360222 | GAA | c.87C>G (p.His29Gln)
| |
17 | g.80104673C>T | CA502177081 | GAA | c.87C>T (p.His29=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80104674A>C | CA401360223 | GAA | c.88A>C (p.Ile30Leu)
| |
17 | g.80104674A>G | CA401360224 | GAA | c.88A>G (p.Ile30Val)
| |
17 | g.80104674A>T | CA401360225 | GAA | c.88A>T (p.Ile30Phe)
| |
17 | g.80104675T>A | CA401360226 | GAA | c.89T>A (p.Ile30Asn)
| |
17 | g.80104675T>C | CA401360228 | GAA | c.89T>C (p.Ile30Thr)
| |
17 | g.80104675T>G | CA401360227 | GAA | c.89T>G (p.Ile30Ser)
| |
17 | g.80104676C>A | CA502177082 | GAA | c.90C>A (p.Ile30=)
| |
17 | g.80104676C>G | CA401360229 | GAA | c.90C>G (p.Ile30Met)
| |
17 | g.80104676C>T | CA502177083 | GAA | c.90C>T (p.Ile30=)
| |
17 | g.80104676_80104679delinsCCTA | CA2277810585 | GAA | c.90_93delinsCCTA (p.Ile30=)
| |
17 | g.80104677C>A | CA401360230 | GAA | c.91C>A (p.Leu31Ile)
| |
17 | g.80104677C= | CA2277810586 | GAA | c.91C= (p.Leu31=)
| |
17 | g.80104677C>G | CA401360231 | GAA | c.91C>G (p.Leu31Val)
| dbSNP |
17 | g.80104677C>T | CA502177084 | GAA | c.91C>T (p.Leu31=)
| ClinVar dbSNP |
17 | g.80104679_80104681del | CA628018663 | GAA | c.93_95del (p.Leu32del)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104678T>A | CA401360232 | GAA | c.92T>A (p.Leu31Gln)
| |
17 | g.80104678T>C | CA401360233 | GAA | c.92T>C (p.Leu31Pro)
| |
17 | g.80104678T>G | CA401360234 | GAA | c.92T>G (p.Leu31Arg)
| |
17 | g.80104679A>C | CA502177085 | GAA | c.93A>C (p.Leu31=)
| |
17 | g.80104679A>G | CA502177086 | GAA | c.93A>G (p.Leu31=)
| dbSNP |
17 | g.80104679A>T | CA502177087 | GAA | c.93A>T (p.Leu31=)
| |
17 | g.80104680C>A | CA401360235 | GAA | c.94C>A (p.Leu32Ile)
| gnomAD v4 |
17 | g.80104680C>G | CA401360236 | GAA | c.94C>G (p.Leu32Val)
| |
17 | g.80104680C>T | CA401360237 | GAA | c.94C>T (p.Leu32Phe)
| |
17 | g.80104681T>A | CA401360238 | GAA | c.95T>A (p.Leu32His)
| |
17 | g.80104681T>C | CA401360239 | GAA | c.95T>C (p.Leu32Pro)
| |
17 | g.80104681T>G | CA401360240 | GAA | c.95T>G (p.Leu32Arg)
| |
17 | g.80104682C>A | CA502177088 | GAA | c.96C>A (p.Leu32=)
| |
17 | g.80104682C= | CA2277810587 | GAA | c.96C= (p.Leu32=)
| |
17 | g.80104682C>G | CA502177089 | GAA | c.96C>G (p.Leu32=)
| ClinVar dbSNP |
17 | g.80104682C>T | CA502177090 | GAA | c.96C>T (p.Leu32=)
| |
17 | g.80104683C>A | CA401360241 | GAA | c.97C>A (p.His33Asn)
| |
17 | g.80104683C>G | CA401360243 | GAA | c.97C>G (p.His33Asp)
| |
17 | g.80104683C>T | CA401360242 | GAA | c.97C>T (p.His33Tyr)
| |
17 | g.80104684A= | CA2277810588 | GAA | c.98A= (p.His33=)
| |
17 | g.80104684A>C | CA401360244 | GAA | c.98A>C (p.His33Pro)
| gnomAD v4 |
17 | g.80104684A>G | CA8814786 | GAA | c.98A>G (p.His33Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80104684A>T | CA401360245 | GAA | c.98A>T (p.His33Leu)
| |
17 | g.80104685T>A | CA401360246 | GAA | c.99T>A (p.His33Gln)
| |
17 | g.80104685T>C | CA8814787 | GAA | c.99T>C (p.His33=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104685T>G | CA401360247 | GAA | c.99T>G (p.His33Gln)
| |
17 | g.80104685T= | CA2277810589 | GAA | c.99T= (p.His33=)
| |
17 | g.80104686G>A | CA401360248 | GAA | c.100G>A (p.Asp34Asn)
| |
17 | g.80104686G>C | CA401360249 | GAA | c.100G>C (p.Asp34His)
| |
17 | g.80104686G= | CA2277810590 | GAA | c.100G= (p.Asp34=)
| |
17 | g.80104686G>T | CA8814788 | GAA | c.100G>T (p.Asp34Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80104687A>C | CA401360250 | GAA | c.101A>C (p.Asp34Ala)
| |
17 | g.80104687A>G | CA401360251 | GAA | c.101A>G (p.Asp34Gly)
| gnomAD v4 |
17 | g.80104687A>T | CA401360252 | GAA | c.101A>T (p.Asp34Val)
| |
17 | g.80104688T>A | CA401360254 | GAA | c.102T>A (p.Asp34Glu)
| gnomAD v4 |
17 | g.80104688T>C | CA502177091 | GAA | c.102T>C (p.Asp34=)
| |
17 | g.80104688T>G | CA401360253 | GAA | c.102T>G (p.Asp34Glu)
| |
17 | g.80104689T>A | CA401360255 | GAA | c.103T>A (p.Phe35Ile)
| |
17 | g.80104689T>C | CA401360256 | GAA | c.103T>C (p.Phe35Leu)
| dbSNP |
17 | g.80104689T>G | CA401360257 | GAA | c.103T>G (p.Phe35Val)
| COSMIC |
17 | g.80104689T= | CA2277810591 | GAA | c.103T= (p.Phe35=)
| |
17 | g.80104690T>A | CA401360258 | GAA | c.104T>A (p.Phe35Tyr)
| |
17 | g.80104690T>C | CA401360259 | GAA | c.104T>C (p.Phe35Ser)
| |
17 | g.80104690T>G | CA401360260 | GAA | c.104T>G (p.Phe35Cys)
| |
17 | g.80104691C>A | CA401360261 | GAA | c.105C>A (p.Phe35Leu)
| gnomAD v4 |
17 | g.80104691C>G | CA401360262 | GAA | c.105C>G (p.Phe35Leu)
| |
17 | g.80104691C>T | CA502177092 | GAA | c.105C>T (p.Phe35=)
| ClinVar gnomAD v4 |
17 | g.80104692C>A | CA401360263 | GAA | c.106C>A (p.Leu36Met)
| gnomAD v4 |
17 | g.80104692C>G | CA401360264 | GAA | c.106C>G (p.Leu36Val)
| |
17 | g.80104692C>T | CA502177093 | GAA | c.106C>T (p.Leu36=)
| gnomAD v4 |
17 | g.80104693T>A | CA401360265 | GAA | c.107T>A (p.Leu36Gln)
| |
17 | g.80104693T>C | CA401360266 | GAA | c.107T>C (p.Leu36Pro)
| |
17 | g.80104693T>G | CA401360267 | GAA | c.107T>G (p.Leu36Arg)
| |
17 | g.80104694G>A | CA502177095 | GAA | c.108G>A (p.Leu36=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80104694G>C | CA502177096 | GAA | c.108G>C (p.Leu36=)
| ClinVar dbSNP |
17 | g.80104694G= | CA2277810592 | GAA | c.108G= (p.Leu36=)
| |
17 | g.80104694G>T | CA502177097 | GAA | c.108G>T (p.Leu36=)
| ClinVar dbSNP |
17 | g.80104695C>A | CA401360268 | GAA | c.109C>A (p.Leu37Met)
| |
17 | g.80104695C= | CA2277810593 | GAA | c.109C= (p.Leu37=)
| |
17 | g.80104695C>G | CA8814789 | GAA | c.109C>G (p.Leu37Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104695C>T | CA502177099 | GAA | c.109C>T (p.Leu37=)
| |
17 | g.80104696T>A | CA401360269 | GAA | c.110T>A (p.Leu37Gln)
| |
17 | g.80104696T>C | CA401360271 | GAA | c.110T>C (p.Leu37Pro)
| |
17 | g.80104696T>G | CA401360270 | GAA | c.110T>G (p.Leu37Arg)
| |
17 | g.80104697G>A | CA502177102 | GAA | c.111G>A (p.Leu37=)
| |
17 | g.80104697G>C | CA502177104 | GAA | c.111G>C (p.Leu37=)
| |
17 | g.80104697G>T | CA502177105 | GAA | c.111G>T (p.Leu37=)
| |
17 | g.80104698G>A | CA401360272 | GAA | c.112G>A (p.Val38Ile)
| |
17 | g.80104698G>C | CA401360274 | GAA | c.112G>C (p.Val38Leu)
| |
17 | g.80104698G>T | CA401360273 | GAA | c.112G>T (p.Val38Phe)
| |
17 | g.80104699T>A | CA401360275 | GAA | c.113T>A (p.Val38Asp)
| |
17 | g.80104699T>C | CA401360277 | GAA | c.113T>C (p.Val38Ala)
| gnomAD v4 |
17 | g.80104699T>G | CA401360276 | GAA | c.113T>G (p.Val38Gly)
| |
17 | g.80104700T>A | CA502177110 | GAA | c.114T>A (p.Val38=)
| |
17 | g.80104700T>C | CA502177111 | GAA | c.114T>C (p.Val38=)
| |
17 | g.80104700T>G | CA502177112 | GAA | c.114T>G (p.Val38=)
| |
17 | g.80104701C>A | CA401360278 | GAA | c.115C>A (p.Pro39Thr)
| ClinVar dbSNP |
17 | g.80104701C= | CA2277810594 | GAA | c.115C= (p.Pro39=)
| |
17 | g.80104701C>G | CA401360279 | GAA | c.115C>G (p.Pro39Ala)
| |
17 | g.80104701C>T | CA8814790 | GAA | c.115C>T (p.Pro39Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80104702C>A | CA401360280 | GAA | c.116C>A (p.Pro39His)
| |
17 | g.80104702C= | CA2277810595 | GAA | c.116C= (p.Pro39=)
| |
17 | g.80104702C>G | CA401360281 | GAA | c.116C>G (p.Pro39Arg)
| |
17 | g.80104702C>T | CA401360282 | GAA | c.116C>T (p.Pro39Leu)
| ClinVar dbSNP gnomAD v4 |
17 | g.80104703C>A | CA502177114 | GAA | c.117C>A (p.Pro39=)
| |
17 | g.80104703C= | CA2277810596 | GAA | c.117C= (p.Pro39=)
| |
17 | g.80104703C>G | CA502177115 | GAA | c.117C>G (p.Pro39=)
| |
17 | g.80104703C>T | CA502177116 | GAA | c.117C>T (p.Pro39=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104704C>A | CA502177117 | GAA | c.118C>A (p.Arg40=)
| |
17 | g.80104704C= | CA2277810597 | GAA | c.118C= (p.Arg40=)
| |
17 | g.80104704C>G | CA401360283 | GAA | c.118C>G (p.Arg40Gly)
| ClinVar dbSNP gnomAD v4 COSMIC |
17 | g.80104704C>T | CA8814791 | GAA | c.118C>T (p.Arg40Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104705G>A | CA8814792 | GAA | c.119G>A (p.Arg40Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104705G>C | CA401360284 | GAA | c.119G>C (p.Arg40Pro)
| |
17 | g.80104705G= | CA2277810598 | GAA | c.119G= (p.Arg40=)
| |
17 | g.80104705G>T | CA401360285 | GAA | c.119G>T (p.Arg40Leu)
| |
17 | g.80104706A>C | CA502177121 | GAA | c.120A>C (p.Arg40=)
| |
17 | g.80104706A>G | CA502177122 | GAA | c.120A>G (p.Arg40=)
| |
17 | g.80104706A>T | CA502177120 | GAA | c.120A>T (p.Arg40=)
| |
17 | g.80104707G>A | CA401360288 | GAA | c.121G>A (p.Glu41Lys)
| |
17 | g.80104707G>C | CA401360286 | GAA | c.121G>C (p.Glu41Gln)
| |
17 | g.80104707G>T | CA401360287 | GAA | c.121G>T (p.Glu41Ter)
| |
17 | g.80104708A>C | CA401360289 | GAA | c.122A>C (p.Glu41Ala)
| |
17 | g.80104708A>G | CA401360290 | GAA | c.122A>G (p.Glu41Gly)
| |
17 | g.80104708A>T | CA401360291 | GAA | c.122A>T (p.Glu41Val)
| |
17 | g.80104709G>A | CA502177123 | GAA | c.123G>A (p.Glu41=)
| |
17 | g.80104709G>C | CA401360292 | GAA | c.123G>C (p.Glu41Asp)
| |
17 | g.80104709G>T | CA401360293 | GAA | c.123G>T (p.Glu41Asp)
| |
17 | g.80104710C>A | CA401360294 | GAA | c.124C>A (p.Leu42Met)
| |
17 | g.80104710C>G | CA401360295 | GAA | c.124C>G (p.Leu42Val)
| gnomAD v4 |
17 | g.80104710C>T | CA502177126 | GAA | c.124C>T (p.Leu42=)
| gnomAD v4 |
17 | g.80104711T>A | CA401360296 | GAA | c.125T>A (p.Leu42Gln)
| |
17 | g.80104711T>C | CA401360297 | GAA | c.125T>C (p.Leu42Pro)
| gnomAD v4 |
17 | g.80104711T>G | CA401360298 | GAA | c.125T>G (p.Leu42Arg)
| gnomAD v4 |
17 | g.80104712G>A | CA502177127 | GAA | c.126G>A (p.Leu42=)
| gnomAD v4 |
17 | g.80104712G>C | CA502177128 | GAA | c.126G>C (p.Leu42=)
| ClinVar dbSNP |
17 | g.80104712G>T | CA502177129 | GAA | c.126G>T (p.Leu42=)
| |
17 | g.80104713A>C | CA401360300 | GAA | c.127A>C (p.Ser43Arg)
| |
17 | g.80104713A>G | CA401360301 | GAA | c.127A>G (p.Ser43Gly)
| |
17 | g.80104713A>T | CA401360299 | GAA | c.127A>T (p.Ser43Cys)
| |
17 | g.80104714G>A | CA401360302 | GAA | c.128G>A (p.Ser43Asn)
| gnomAD v4 |
17 | g.80104714G>C | CA401360303 | GAA | c.128G>C (p.Ser43Thr)
| gnomAD v4 |
17 | g.80104714G>T | CA401360304 | GAA | c.128G>T (p.Ser43Ile)
| |
17 | g.80104715T>A | CA401360305 | GAA | c.129T>A (p.Ser43Arg)
| |
17 | g.80104715T>C | CA502177130 | GAA | c.129T>C (p.Ser43=)
| gnomAD v4 |
17 | g.80104715T>G | CA401360306 | GAA | c.129T>G (p.Ser43Arg)
| |
17 | g.80104716G>A | CA401360307 | GAA | c.130G>A (p.Gly44Ser)
| |
17 | g.80104716G>C | CA401360308 | GAA | c.130G>C (p.Gly44Arg)
| |
17 | g.80104716G>T | CA401360309 | GAA | c.130G>T (p.Gly44Cys)
| |
17 | g.80104717G>A | CA401360310 | GAA | c.131G>A (p.Gly44Asp)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80104717G>C | CA401360311 | GAA | c.131G>C (p.Gly44Ala)
| |
17 | g.80104717G= | CA2277810599 | GAA | c.131G= (p.Gly44=)
| |
17 | g.80104717G>T | CA8814793 | GAA | c.131G>T (p.Gly44Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104718C>A | CA502177131 | GAA | c.132C>A (p.Gly44=)
| |
17 | g.80104718C>G | CA502177132 | GAA | c.132C>G (p.Gly44=)
| |
17 | g.80104718C>T | CA502177133 | GAA | c.132C>T (p.Gly44=)
| ClinVar dbSNP gnomAD v4 |
17 | g.80104719del | CA2695200346 | GAA | c.133del (p.Ser45ProfsTer?)
| ClinVar |
17 | g.80104719T>A | CA401360313 | GAA | c.133T>A (p.Ser45Thr)
| |
17 | g.80104719T>C | CA401360314 | GAA | c.133T>C (p.Ser45Pro)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104719T>G | CA401360312 | GAA | c.133T>G (p.Ser45Ala)
| ClinVar dbSNP |
17 | g.80104719T= | CA2277810600 | GAA | c.133T= (p.Ser45=)
| |
17 | g.80104720C>A | CA401360315 | GAA | c.134C>A (p.Ser45Tyr)
| |
17 | g.80104720C= | CA2277810601 | GAA | c.134C= (p.Ser45=)
| |
17 | g.80104720C>G | CA401360316 | GAA | c.134C>G (p.Ser45Cys)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80104720C>T | CA401360317 | GAA | c.134C>T (p.Ser45Phe)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80104721C>A | CA502177134 | GAA | c.135C>A (p.Ser45=)
| |
17 | g.80104721C>G | CA502177135 | GAA | c.135C>G (p.Ser45=)
| |
17 | g.80104721C>T | CA502177136 | GAA | c.135C>T (p.Ser45=)
| ClinVar dbSNP |
17 | g.80104722T>A | CA401360318 | GAA | c.136T>A (p.Ser46Thr)
| |
17 | g.80104722T>C | CA8814794 | GAA | c.136T>C (p.Ser46Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.80104722T>G | CA401360319 | GAA | c.136T>G (p.Ser46Ala)
| |
17 | g.80104722T= | CA2277810602 | GAA | c.136T= (p.Ser46=)
| |
17 | g.80104723C>A | CA401360320 | GAA | c.137C>A (p.Ser46Tyr)
| |
17 | g.80104723C= | CA2277810603 | GAA | c.137C= (p.Ser46=)
| |
17 | g.80104723C>G | CA401360322 | GAA | c.137C>G (p.Ser46Cys)
| |
17 | g.80104723C>T | CA401360321 | GAA | c.137C>T (p.Ser46Phe)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.80104724C>A | CA502177137 | GAA | c.138C>A (p.Ser46=)
| |
17 | g.80104724C= | CA2277810604 | GAA | c.138C= (p.Ser46=)
| |
17 | g.80104724C>G | CA502177138 | GAA | c.138C>G (p.Ser46=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80104724C>T | CA8814795 | GAA | c.138C>T (p.Ser46=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.80104725C>A | CA401360323 | GAA | c.139C>A (p.Pro47Thr)
| |
17 | g.80104725C= | CA2277810605 | GAA | c.139C= (p.Pro47=)
| |
17 | g.80104725C>G | CA401360324 | GAA | c.139C>G (p.Pro47Ala)
| |
17 | g.80104725C>T | CA294886602 | GAA | c.139C>T (p.Pro47Ser)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80104726C>A | CA401360327 | GAA | c.140C>A (p.Pro47Gln)
| |
17 | g.80104726C>G | CA401360326 | GAA | c.140C>G (p.Pro47Arg)
| |
17 | g.80104726C>T | CA401360325 | GAA | c.140C>T (p.Pro47Leu)
| |
17 | g.80104727A>C | CA502177140 | GAA | c.141A>C (p.Pro47=)
| |
17 | g.80104727A>G | CA502177141 | GAA | c.141A>G (p.Pro47=)
| |
17 | g.80104727A>T | CA502177139 | GAA | c.141A>T (p.Pro47=)
| |
17 | g.80104728G>A | CA401360328 | GAA | c.142G>A (p.Val48Ile)
| |
17 | g.80104728G>C | CA401360330 | GAA | c.142G>C (p.Val48Leu)
| |
17 | g.80104728G>T | CA401360329 | GAA | c.142G>T (p.Val48Phe)
| |
17 | g.80104729T>A | CA401360331 | GAA | c.143T>A (p.Val48Asp)
| gnomAD v4 |
17 | g.80104729T>C | CA401360332 | GAA | c.143T>C (p.Val48Ala)
| |
17 | g.80104729T>G | CA401360333 | GAA | c.143T>G (p.Val48Gly)
| |
17 | g.80104734_80107789del | CA658795223 | GAA | c.148_859-11del
| ClinVar |
17 | g.80104730C>A | CA502177142 | GAA | c.144C>A (p.Val48=)
| ClinVar |
17 | g.80104730C= | CA2277810606 | GAA | c.144C= (p.Val48=)
| |
17 | g.80104730C>G | CA502177143 | GAA | c.144C>G (p.Val48=)
| |
17 | g.80104730C>T | CA294886609 | GAA | c.144C>T (p.Val48=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80104731C>A | CA401360334 | GAA | c.145C>A (p.Leu49Met)
| |
17 | g.80104731C>G | CA401360335 | GAA | c.145C>G (p.Leu49Val)
| |
17 | g.80104731C>T | CA502177144 | GAA | c.145C>T (p.Leu49=)
| |
17 | g.80104732T>A | CA401360336 | GAA | c.146T>A (p.Leu49Gln)
| |
17 | g.80104732T>C | CA401360337 | GAA | c.146T>C (p.Leu49Pro)
| |
17 | g.80104732T>G | CA401360338 | GAA | c.146T>G (p.Leu49Arg)
| |
17 | g.80104733G>A | CA294886613 | GAA | c.147G>A (p.Leu49=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.80104733G>C | CA502177146 | GAA | c.147G>C (p.Leu49=)
| |
17 | g.80104733G= | CA2277810607 | GAA | c.147G= (p.Leu49=)
| |
17 | g.80104733G>T | CA502177147 | GAA | c.147G>T (p.Leu49=)
| |
17 | g.80104734G>A | CA401360339 | GAA | c.148G>A (p.Glu50Lys)
| ClinVar dbSNP |
17 | g.80104734G>C | CA401360340 | GAA | c.148G>C (p.Glu50Gln)
| |
17 | g.80104734G= | CA2277810608 | GAA | c.148G= (p.Glu50=)
| |
17 | g.80104734G>T | CA401360341 | GAA | c.148G>T (p.Glu50Ter)
| ClinVar dbSNP |
17 | g.80104735A>C | CA401360344 | GAA | c.149A>C (p.Glu50Ala)
| |
17 | g.80104735A>G | CA401360342 | GAA | c.149A>G (p.Glu50Gly)
| dbSNP |
17 | g.80104735A>T | CA401360343 | GAA | c.149A>T (p.Glu50Val)
| |
17 | g.80104736G>A | CA502177148 | GAA | c.150G>A (p.Glu50=)
| |
17 | g.80104736G>C | CA401360345 | GAA | c.150G>C (p.Glu50Asp)
| |
17 | g.80104736G>T | CA401360346 | GAA | c.150G>T (p.Glu50Asp)
| |
17 | g.80104737G>A | CA401360347 | GAA | c.151G>A (p.Glu51Lys)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.80104737G>C | CA401360348 | GAA | c.151G>C (p.Glu51Gln)
| gnomAD v4 |
17 | g.80104737G= | CA2277810609 | GAA | c.151G= (p.Glu51=)
| |
17 | g.80104737G>T | CA401360349 | GAA | c.151G>T (p.Glu51Ter)
| |
17 | g.80104738A= | CA2277810610 | GAA | c.152A= (p.Glu51=)
| |
17 | g.80104738A>C | CA401360350 | GAA | c.152A>C (p.Glu51Ala)
| |
17 | g.80104738A>G | CA294886615 | GAA | c.152A>G (p.Glu51Gly)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.80104738A>T | CA401360351 | GAA | c.152A>T (p.Glu51Val)
| |
17 | g.80104739G>A | CA502177149 | GAA | c.153G>A (p.Glu51=)
| |
17 | g.80104739G>C | CA401360352 | GAA | c.153G>C (p.Glu51Asp)
| |
17 | g.80104739G>T | CA401360353 | GAA | c.153G>T (p.Glu51Asp)
| |
17 | g.80104740A>C | CA401360355 | GAA | c.154A>C (p.Thr52Pro)
| dbSNP |
17 | g.80104740A>G | CA401360356 | GAA | c.154A>G (p.Thr52Ala)
| dbSNP |
17 | g.80104740A>T | CA401360354 | GAA | c.154A>T (p.Thr52Ser)
| |
17 | g.80104740_80104742delinsACT | CA2277810611 | GAA | c.154_156delinsACT (p.Thr52=)
| |
17 | g.80104741C>A | CA401360357 | GAA | c.155C>A (p.Thr52Asn)
| |
17 | g.80104741C>G | CA401360358 | GAA | c.155C>G (p.Thr52Ser)
| |
17 | g.80104741C>T | CA401360359 | GAA | c.155C>T (p.Thr52Ile)
| |
17 | g.80104742_80104743del | CA294886619 | GAA | c.156_157del (p.His53ProfsTer?)
| ClinVar dbSNP gnomAD v4 |
17 | g.80104742T>A | CA502177151 | GAA | c.156T>A (p.Thr52=)
| ClinVar dbSNP |
17 | g.80104742T>C | CA502177152 | GAA | c.156T>C (p.Thr52=)
| |
17 | g.80104742T>G | CA502177150 | GAA | c.156T>G (p.Thr52=)
| |