17 | g.42184437T>A | CA399562298 | HCRT | c.113A>T (p.Asp38Val)
| |
17 | g.42184437T>C | CA399562296 | HCRT | c.113A>G (p.Asp38Gly)
| |
17 | g.42184437T>G | CA399562297 | HCRT | c.113A>C (p.Asp38Ala)
| |
17 | g.42184438C>A | CA399562299 | HCRT | c.112G>T (p.Asp38Tyr)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.42184438C= | CA2260368370 | HCRT | c.112G= (p.Asp38=)
| |
17 | g.42184438C>G | CA399562300 | HCRT | c.112G>C (p.Asp38His)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.42184438C>T | CA8573253 | HCRT | c.112G>A (p.Asp38Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.42184439G>A | CA500214015 | HCRT | c.111C>T (p.Pro37=)
| gnomAD v4 |
17 | g.42184439G>C | CA500214016 | HCRT | c.111C>G (p.Pro37=)
| |
17 | g.42184439G= | CA2260368371 | HCRT | c.111C= (p.Pro37=)
| |
17 | g.42184439G>T | CA500214014 | HCRT | c.111C>A (p.Pro37=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.42184440G>A | CA399562301 | HCRT | c.110C>T (p.Pro37Leu)
| gnomAD v4 |
17 | g.42184440G>C | CA399562302 | HCRT | c.110C>G (p.Pro37Arg)
| |
17 | g.42184440G>T | CA399562303 | HCRT | c.110C>A (p.Pro37His)
| gnomAD v4 |
17 | g.42184441G>A | CA399562304 | HCRT | c.109C>T (p.Pro37Ser)
| dbSNP gnomAD v4 |
17 | g.42184441G>C | CA399562305 | HCRT | c.109C>G (p.Pro37Ala)
| dbSNP gnomAD v2 |
17 | g.42184441G= | CA2260368372 | HCRT | c.109C= (p.Pro37=)
| |
17 | g.42184441G>T | CA399562306 | HCRT | c.109C>A (p.Pro37Thr)
| dbSNP gnomAD v4 |
17 | g.42184442C>A | CA8573254 | HCRT | c.108G>T (p.Leu36=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42184442C= | CA2260368373 | HCRT | c.108G= (p.Leu36=)
| |
17 | g.42184442C>G | CA500214017 | HCRT | c.108G>C (p.Leu36=)
| gnomAD v4 |
17 | g.42184442C>T | CA500214018 | HCRT | c.108G>A (p.Leu36=)
| gnomAD v4 |
17 | g.42184443A>C | CA399562307 | HCRT | c.107T>G (p.Leu36Arg)
| |
17 | g.42184443A>G | CA399562308 | HCRT | c.107T>C (p.Leu36Pro)
| gnomAD v4 |
17 | g.42184443A>T | CA399562309 | HCRT | c.107T>A (p.Leu36Gln)
| |
17 | g.42184444G>A | CA500214019 | HCRT | c.106C>T (p.Leu36=)
| |
17 | g.42184444G>C | CA399562311 | HCRT | c.106C>G (p.Leu36Val)
| gnomAD v4 |
17 | g.42184444G>T | CA399562310 | HCRT | c.106C>A (p.Leu36Met)
| gnomAD v4 |
17 | g.42184445G>A | CA8573255 | HCRT | c.105C>T (p.Pro35=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42184445G>C | CA500214021 | HCRT | c.105C>G (p.Pro35=)
| gnomAD v4 |
17 | g.42184445G= | CA2260368374 | HCRT | c.105C= (p.Pro35=)
| |
17 | g.42184445G>T | CA500214020 | HCRT | c.105C>A (p.Pro35=)
| gnomAD v4 |
17 | g.42184446G>A | CA399562312 | HCRT | c.104C>T (p.Pro35Leu)
| |
17 | g.42184446G>C | CA399562313 | HCRT | c.104C>G (p.Pro35Arg)
| |
17 | g.42184446G>T | CA399562314 | HCRT | c.104C>A (p.Pro35His)
| gnomAD v4 |
17 | g.42184447G>A | CA399562315 | HCRT | c.103C>T (p.Pro35Ser)
| gnomAD v4 |
17 | g.42184447G>C | CA399562316 | HCRT | c.103C>G (p.Pro35Ala)
| |
17 | g.42184447G>T | CA399562317 | HCRT | c.103C>A (p.Pro35Thr)
| gnomAD v4 |
17 | g.42184448C>A | CA399562318 | HCRT | c.102G>T (p.Gln34His)
| gnomAD v4 |
17 | g.42184448C= | CA2260368375 | HCRT | c.102G= (p.Gln34=)
| |
17 | g.42184448C>G | CA399562319 | HCRT | c.102G>C (p.Gln34His)
| |
17 | g.42184448C>T | CA8573256 | HCRT | c.102G>A (p.Gln34=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42184449T>A | CA399562320 | HCRT | c.101A>T (p.Gln34Leu)
| |
17 | g.42184449T>C | CA399562321 | HCRT | c.101A>G (p.Gln34Arg)
| gnomAD v4 |
17 | g.42184449T>G | CA399562322 | HCRT | c.101A>C (p.Gln34Pro)
| |
17 | g.42184449_42184471delinsTGTGCAGCCGCCCCGGACGACAA | CA2260368376 | HCRT | c.79_101delinsTTGTCGTCCGGGGCGGCTGCACA (p.Leu27=)
| |
17 | g.42184450G>A | CA399562325 | HCRT | c.100C>T (p.Gln34Ter)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.42184450G>C | CA399562324 | HCRT | c.100C>G (p.Gln34Glu)
| |
17 | g.42184450G= | CA2260368377 | HCRT | c.100C= (p.Gln34=)
| |
17 | g.42184450G>T | CA399562323 | HCRT | c.100C>A (p.Gln34Lys)
| gnomAD v4 |
17 | g.42184450_42184471del | CA8573257 | HCRT | c.79_100del (p.Leu27SerfsTer?)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42184451T>A | CA500214022 | HCRT | c.99A>T (p.Ala33=)
| |
17 | g.42184451T>C | CA500214023 | HCRT | c.99A>G (p.Ala33=)
| dbSNP |
17 | g.42184451T>G | CA500214024 | HCRT | c.99A>C (p.Ala33=)
| |
17 | g.42184451T= | CA2260368378 | HCRT | c.99A= (p.Ala33=)
| |
17 | g.42184452G>A | CA399562326 | HCRT | c.98C>T (p.Ala33Val)
| gnomAD v4 |
17 | g.42184452G>C | CA399562327 | HCRT | c.98C>G (p.Ala33Gly)
| |
17 | g.42184452G>T | CA399562328 | HCRT | c.98C>A (p.Ala33Glu)
| gnomAD v4 |
17 | g.42184453C>A | CA399562329 | HCRT | c.97G>T (p.Ala33Ser)
| |
17 | g.42184453C>G | CA399562330 | HCRT | c.97G>C (p.Ala33Pro)
| |
17 | g.42184453C>T | CA399562331 | HCRT | c.97G>A (p.Ala33Thr)
| gnomAD v4 |
17 | g.42184454A>C | CA500214026 | HCRT | c.96T>G (p.Ala32=)
| |
17 | g.42184454A>G | CA500214025 | HCRT | c.96T>C (p.Ala32=)
| gnomAD v4 |
17 | g.42184454A>T | CA500214027 | HCRT | c.96T>A (p.Ala32=)
| gnomAD v4 |
17 | g.42184455G>A | CA399562332 | HCRT | c.95C>T (p.Ala32Val)
| gnomAD v4 |
17 | g.42184455G>C | CA399562334 | HCRT | c.95C>G (p.Ala32Gly)
| |
17 | g.42184455G>T | CA399562333 | HCRT | c.95C>A (p.Ala32Asp)
| gnomAD v4 |
17 | g.42184456C>A | CA8573258 | HCRT | c.94G>T (p.Ala32Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42184456C= | CA2260368379 | HCRT | c.94G= (p.Ala32=)
| |
17 | g.42184456C>G | CA399562335 | HCRT | c.94G>C (p.Ala32Pro)
| |
17 | g.42184456C>T | CA399562336 | HCRT | c.94G>A (p.Ala32Thr)
| gnomAD v4 |
17 | g.42184457C>A | CA500214028 | HCRT | c.93G>T (p.Ala31=)
| gnomAD v4 |
17 | g.42184457C= | CA2260368380 | HCRT | c.93G= (p.Ala31=)
| |
17 | g.42184457C>G | CA8573260 | HCRT | c.93G>C (p.Ala31=)
| dbSNP ExAC gnomAD v4 |
17 | g.42184457C>T | CA500214029 | HCRT | c.93G>A (p.Ala31=)
| gnomAD v4 |
17 | g.42184457_42184458insCT | CA8573259 | HCRT | c.92_93insAG (p.Ala32GlyfsTer?)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42184458G>A | CA399562339 | HCRT | c.92C>T (p.Ala31Val)
| gnomAD v4 |
17 | g.42184458G>C | CA399562337 | HCRT | c.92C>G (p.Ala31Gly)
| |
17 | g.42184458G>T | CA399562338 | HCRT | c.92C>A (p.Ala31Glu)
| gnomAD v4 |
17 | g.42184459C>A | CA399562340 | HCRT | c.91G>T (p.Ala31Ser)
| |
17 | g.42184459C>G | CA399562341 | HCRT | c.91G>C (p.Ala31Pro)
| |
17 | g.42184459C>T | CA399562342 | HCRT | c.91G>A (p.Ala31Thr)
| gnomAD v4 |
17 | g.42184462del | CA2637931004 | HCRT | c.91del (p.Ala31ArgfsTer?)
| gnomAD v4 |
17 | g.42184460C>A | CA500214030 | HCRT | c.90G>T (p.Gly30=)
| gnomAD v4 |
17 | g.42184460C= | CA2260368381 | HCRT | c.90G= (p.Gly30=)
| |
17 | g.42184460C>G | CA8573261 | HCRT | c.90G>C (p.Gly30=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42184460C>T | CA8573262 | HCRT | c.90G>A (p.Gly30=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42184461C>A | CA399562345 | HCRT | c.89G>T (p.Gly30Val)
| gnomAD v4 |
17 | g.42184461C>G | CA399562343 | HCRT | c.89G>C (p.Gly30Ala)
| |
17 | g.42184461C>T | CA399562344 | HCRT | c.89G>A (p.Gly30Glu)
| |
17 | g.42184462C>A | CA399562346 | HCRT | c.88G>T (p.Gly30Trp)
| gnomAD v4 |
17 | g.42184462C= | CA2260368383 | HCRT | c.88G= (p.Gly30=)
| |
17 | g.42184462C>G | CA399562347 | HCRT | c.88G>C (p.Gly30Arg)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.42184462C>T | CA399562348 | HCRT | c.88G>A (p.Gly30Arg)
| gnomAD v4 |
17 | g.42184462_42184463delinsCG | CA2260368382 | HCRT | c.87_88delinsCG (p.Ser29=)
| |
17 | g.42184463G>A | CA8573263 | HCRT | c.87C>T (p.Ser29=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42184463G>C | CA8573264 | HCRT | c.87C>G (p.Ser29=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42184463G= | CA2260368385 | HCRT | c.87C= (p.Ser29=)
| |
17 | g.42184463G>T | CA500214031 | HCRT | c.87C>A (p.Ser29=)
| gnomAD v4 |
17 | g.42184464del | CA772085758 | HCRT | c.87del (p.Ala31ArgfsTer?)
| dbSNP gnomAD v4 |
17 | g.42184463_42184466delinsGGAC | CA2260368384 | HCRT | c.84_87delinsGTCC (p.Ser28=)
| |
17 | g.42184464G>A | CA399562349 | HCRT | c.86C>T (p.Ser29Phe)
| gnomAD v4 |
17 | g.42184464G>C | CA399562351 | HCRT | c.86C>G (p.Ser29Cys)
| |
17 | g.42184464G>T | CA399562350 | HCRT | c.86C>A (p.Ser29Tyr)
| gnomAD v4 |
17 | g.42184467_42184469del | CA772085770 | HCRT | c.84_86del (p.Ser29del)
| dbSNP |
17 | g.42184465A= | CA2260368386 | HCRT | c.85T= (p.Ser29=)
| |
17 | g.42184465A>C | CA399562352 | HCRT | c.85T>G (p.Ser29Ala)
| |
17 | g.42184465A>G | CA8573265 | HCRT | c.85T>C (p.Ser29Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42184465A>T | CA399562353 | HCRT | c.85T>A (p.Ser29Thr)
| |
17 | g.42184466C>A | CA500214032 | HCRT | c.84G>T (p.Ser28=)
| gnomAD v4 |
17 | g.42184466C= | CA2260368387 | HCRT | c.84G= (p.Ser28=)
| |
17 | g.42184466C>G | CA500214033 | HCRT | c.84G>C (p.Ser28=)
| |
17 | g.42184466C>T | CA290717919 | HCRT | c.84G>A (p.Ser28=)
| dbSNP gnomAD v4 |
17 | g.42184467G>A | CA399562354 | HCRT | c.83C>T (p.Ser28Leu)
| gnomAD v4 |
17 | g.42184467G>C | CA399562355 | HCRT | c.83C>G (p.Ser28Trp)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42184467G= | CA2260368388 | HCRT | c.83C= (p.Ser28=)
| |
17 | g.42184467G>T | CA290717920 | HCRT | c.83C>A (p.Ser28Ter)
| dbSNP gnomAD v4 |
17 | g.42184468A>C | CA399562356 | HCRT | c.82T>G (p.Ser28Ala)
| |
17 | g.42184468A>G | CA399562357 | HCRT | c.82T>C (p.Ser28Pro)
| |
17 | g.42184468A>T | CA399562358 | HCRT | c.82T>A (p.Ser28Thr)
| |
17 | g.42184469C>A | CA399562359 | HCRT | c.81G>T (p.Leu27Phe)
| gnomAD v4 |
17 | g.42184469C= | CA2260368389 | HCRT | c.81G= (p.Leu27=)
| |
17 | g.42184469C>G | CA399562360 | HCRT | c.81G>C (p.Leu27Phe)
| |
17 | g.42184469C>T | CA500214034 | HCRT | c.81G>A (p.Leu27=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.42184470A= | CA2260368390 | HCRT | c.80T= (p.Leu27=)
| |
17 | g.42184470A>C | CA399562361 | HCRT | c.80T>G (p.Leu27Trp)
| dbSNP |
17 | g.42184470A>G | CA399562362 | HCRT | c.80T>C (p.Leu27Ser)
| |
17 | g.42184470A>T | CA399562363 | HCRT | c.80T>A (p.Leu27Ter)
| |
17 | g.42184471A>C | CA399562364 | HCRT | c.79T>G (p.Leu27Val)
| |
17 | g.42184471A>G | CA500214035 | HCRT | c.79T>C (p.Leu27=)
| dbSNP |
17 | g.42184471A>T | CA399562365 | HCRT | c.79T>A (p.Leu27Met)
| |
17 | g.42184472C>A | CA500214036 | HCRT | c.78G>T (p.Leu26=)
| gnomAD v4 |
17 | g.42184472C= | CA2260368391 | HCRT | c.78G= (p.Leu26=)
| |
17 | g.42184472C>G | CA500214037 | HCRT | c.78G>C (p.Leu26=)
| |
17 | g.42184472C>T | CA500214038 | HCRT | c.78G>A (p.Leu26=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.42184473A>C | CA399562366 | HCRT | c.77T>G (p.Leu26Arg)
| |
17 | g.42184473A>G | CA399562367 | HCRT | c.77T>C (p.Leu26Pro)
| gnomAD v4 |
17 | g.42184473A>T | CA399562368 | HCRT | c.77T>A (p.Leu26Gln)
| |
17 | g.42184474G>A | CA500214039 | HCRT | c.76C>T (p.Leu26=)
| gnomAD v4 |
17 | g.42184474G>C | CA399562369 | HCRT | c.76C>G (p.Leu26Val)
| dbSNP gnomAD v2 |
17 | g.42184474G= | CA2260368392 | HCRT | c.76C= (p.Leu26=)
| |
17 | g.42184474G>T | CA399562370 | HCRT | c.76C>A (p.Leu26Met)
| gnomAD v4 |
17 | g.42184475C>A | CA500214041 | HCRT | c.75G>T (p.Ala25=)
| gnomAD v4 |
17 | g.42184475C= | CA2260368393 | HCRT | c.75G= (p.Ala25=)
| |
17 | g.42184475C>G | CA500214040 | HCRT | c.75G>C (p.Ala25=)
| dbSNP |
17 | g.42184475C>T | CA8573266 | HCRT | c.75G>A (p.Ala25=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42184476G>A | CA8573267 | HCRT | c.74C>T (p.Ala25Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42184476G>C | CA399562371 | HCRT | c.74C>G (p.Ala25Gly)
| gnomAD v4 |
17 | g.42184476G= | CA2260368394 | HCRT | c.74C= (p.Ala25=)
| |
17 | g.42184476G>T | CA399562372 | HCRT | c.74C>A (p.Ala25Glu)
| gnomAD v4 |
17 | g.42184477C>A | CA399562373 | HCRT | c.73G>T (p.Ala25Ser)
| gnomAD v4 |
17 | g.42184477C= | CA2260368395 | HCRT | c.73G= (p.Ala25=)
| |
17 | g.42184477C>G | CA399562374 | HCRT | c.73G>C (p.Ala25Pro)
| |
17 | g.42184477C>T | CA399562375 | HCRT | c.73G>A (p.Ala25Thr)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.42184478G>A | CA500214042 | HCRT | c.72C>T (p.Pro24=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42184478G>C | CA290717922 | HCRT | c.72C>G (p.Pro24=)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.42184478G= | CA2260368396 | HCRT | c.72C= (p.Pro24=)
| |
17 | g.42184478G>T | CA500214043 | HCRT | c.72C>A (p.Pro24=)
| gnomAD v4 |
17 | g.42184479G>A | CA399562376 | HCRT | c.71C>T (p.Pro24Leu)
| gnomAD v4 |
17 | g.42184479G>C | CA399562378 | HCRT | c.71C>G (p.Pro24Arg)
| |
17 | g.42184479G>T | CA399562377 | HCRT | c.71C>A (p.Pro24His)
| gnomAD v4 |
17 | g.42184482_42184484del | CA2637931005 | HCRT | c.69_71del (p.Pro24del)
| gnomAD v4 |
17 | g.42184480G>A | CA399562379 | HCRT | c.70C>T (p.Pro24Ser)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42184480G>C | CA399562381 | HCRT | c.70C>G (p.Pro24Ala)
| |
17 | g.42184480G= | CA2260368397 | HCRT | c.70C= (p.Pro24=)
| |
17 | g.42184480G>T | CA399562380 | HCRT | c.70C>A (p.Pro24Thr)
| gnomAD v4 |
17 | g.42184481C>A | CA500214044 | HCRT | c.69G>T (p.Pro23=)
| gnomAD v4 |
17 | g.42184481C>G | CA500214046 | HCRT | c.69G>C (p.Pro23=)
| |
17 | g.42184481C>T | CA500214045 | HCRT | c.69G>A (p.Pro23=)
| gnomAD v4 |
17 | g.42184482G>A | CA399562382 | HCRT | c.68C>T (p.Pro23Leu)
| gnomAD v4 |
17 | g.42184482G>C | CA399562384 | HCRT | c.68C>G (p.Pro23Arg)
| |
17 | g.42184482G>T | CA399562383 | HCRT | c.68C>A (p.Pro23Gln)
| gnomAD v4 |
17 | g.42184482_42184491delinsGGCAGCAGCA | CA2260368398 | HCRT | c.59_68delinsTGCTGCTGCC (p.Leu20=)
| |
17 | g.42184483G>A | CA399562385 | HCRT | c.67C>T (p.Pro23Ser)
| gnomAD v4 |
17 | g.42184483G>C | CA399562386 | HCRT | c.67C>G (p.Pro23Ala)
| dbSNP |
17 | g.42184483G= | CA2260368399 | HCRT | c.67C= (p.Pro23=)
| |
17 | g.42184483G>T | CA399562387 | HCRT | c.67C>A (p.Pro23Thr)
| gnomAD v4 |
17 | g.42184483_42184484del | CA2637931007 | HCRT | c.66_67del (p.Pro23AlafsTer?)
| gnomAD v4 |
17 | g.42184502_42184504dup | CA8573270 | HCRT | c.65_67dup (p.Leu22_Pro23insLeu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42184499_42184504dup | CA8573269 | HCRT | c.62_67dup (p.Leu22_Pro23insLeuLeu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42184496_42184504dup | CA626217902 | HCRT | c.59_67dup (p.Leu22_Pro23insLeuLeuLeu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42184493_42184504dup | CA2637931008 | HCRT | c.56_67dup (p.Leu22_Pro23insLeuLeuLeuLeu)
| gnomAD v4 |
17 | g.42184502_42184504del | CA8573268 | HCRT | c.65_67del (p.Leu22del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
17 | g.42184499_42184504del | CA8573271 | HCRT | c.62_67del (p.Leu21_Leu22del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42184496_42184504del | CA626217901 | HCRT | c.59_67del (p.Leu20_Leu22del)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.42184493_42184504del | CA2637931006 | HCRT | c.56_67del (p.Leu19_Leu22del)
| gnomAD v4 |
17 | g.42184484C>A | CA500214047 | HCRT | c.66G>T (p.Leu22=)
| |
17 | g.42184484C>G | CA500214049 | HCRT | c.66G>C (p.Leu22=)
| |
17 | g.42184484C>T | CA500214048 | HCRT | c.66G>A (p.Leu22=)
| gnomAD v4 |
17 | g.42184485A= | CA2260368400 | HCRT | c.65T= (p.Leu22=)
| |
17 | g.42184485A>C | CA399562388 | HCRT | c.65T>G (p.Leu22Arg)
| |
17 | g.42184485A>G | CA8573272 | HCRT | c.65T>C (p.Leu22Pro)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42184485A>T | CA399562389 | HCRT | c.65T>A (p.Leu22Gln)
| |
17 | g.42184486G>A | CA500214050 | HCRT | c.64C>T (p.Leu22=)
| gnomAD v4 |
17 | g.42184486G>C | CA399562390 | HCRT | c.64C>G (p.Leu22Val)
| |
17 | g.42184486G>T | CA399562391 | HCRT | c.64C>A (p.Leu22Met)
| gnomAD v4 |
17 | g.42184486_42184487del | CA2637931009 | HCRT | c.63_64del (p.Leu22AlafsTer?)
| gnomAD v4 |
17 | g.42184487C>A | CA500214053 | HCRT | c.63G>T (p.Leu21=)
| gnomAD v4 |
17 | g.42184487C= | CA2260368401 | HCRT | c.63G= (p.Leu21=)
| |
17 | g.42184487C>G | CA500214051 | HCRT | c.63G>C (p.Leu21=)
| dbSNP |
17 | g.42184487C>T | CA500214052 | HCRT | c.63G>A (p.Leu21=)
| gnomAD v4 |
17 | g.42184488A>C | CA399562394 | HCRT | c.62T>G (p.Leu21Arg)
| |
17 | g.42184488A>G | CA399562392 | HCRT | c.62T>C (p.Leu21Pro)
| gnomAD v4 |
17 | g.42184488A>T | CA399562393 | HCRT | c.62T>A (p.Leu21Gln)
| |
17 | g.42184492_42184493insAAGCAG | CA2260368402 | HCRT | c.62_63insTCTGCT (p.Leu21_Leu22insLeuLeu)
| dbSNP |
17 | g.42184489del | CA2637931010 | HCRT | c.61del (p.Leu21CysfsTer?)
| gnomAD v4 |
17 | g.42184489G>A | CA8573273 | HCRT | c.61C>T (p.Leu21=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42184489G>C | CA399562395 | HCRT | c.61C>G (p.Leu21Val)
| dbSNP gnomAD v4 |
17 | g.42184489G= | CA2260368403 | HCRT | c.61C= (p.Leu21=)
| |
17 | g.42184489G>T | CA399562396 | HCRT | c.61C>A (p.Leu21Met)
| gnomAD v4 |
17 | g.42184490C>A | CA500214055 | HCRT | c.60G>T (p.Leu20=)
| gnomAD v4 |
17 | g.42184490C= | CA2260368404 | HCRT | c.60G= (p.Leu20=)
| |
17 | g.42184490C>G | CA500214056 | HCRT | c.60G>C (p.Leu20=)
| dbSNP gnomAD v4 |
17 | g.42184490C>T | CA500214054 | HCRT | c.60G>A (p.Leu20=)
| gnomAD v4 |
17 | g.42184491A= | CA2260368405 | HCRT | c.59T= (p.Leu20=)
| |
17 | g.42184491A>C | CA399562397 | HCRT | c.59T>G (p.Leu20Arg)
| |
17 | g.42184491A>G | CA399562398 | HCRT | c.59T>C (p.Leu20Pro)
| dbSNP gnomAD v2 |
17 | g.42184491A>T | CA399562399 | HCRT | c.59T>A (p.Leu20Gln)
| |
17 | g.42184494_42184508dup | CA2637931011 | HCRT | c.45_59dup (p.Leu20_Leu21insLeuLeuLeuLeuLeu)
| gnomAD v4 |
17 | g.42184492del | CA2637931012 | HCRT | c.58del (p.Leu20CysfsTer?)
| gnomAD v4 |
17 | g.42184492G>A | CA500214057 | HCRT | c.58C>T (p.Leu20=)
| gnomAD v4 |
17 | g.42184492G>C | CA399562400 | HCRT | c.58C>G (p.Leu20Val)
| |
17 | g.42184492G>T | CA399562401 | HCRT | c.58C>A (p.Leu20Met)
| gnomAD v4 |
17 | g.42184493C>A | CA500214059 | HCRT | c.57G>T (p.Leu19=)
| gnomAD v4 |
17 | g.42184493C= | CA2260368406 | HCRT | c.57G= (p.Leu19=)
| |
17 | g.42184493C>G | CA500214058 | HCRT | c.57G>C (p.Leu19=)
| gnomAD v4 |
17 | g.42184493C>T | CA500214060 | HCRT | c.57G>A (p.Leu19=)
| gnomAD v4 |
17 | g.42184494A= | CA2260368407 | HCRT | c.56T= (p.Leu19=)
| |
17 | g.42184494A>C | CA399562402 | HCRT | c.56T>G (p.Leu19Arg)
| |
17 | g.42184494A>G | CA8573274 | HCRT | c.56T>C (p.Leu19Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42184494A>T | CA399562403 | HCRT | c.56T>A (p.Leu19Gln)
| |
17 | g.42184497_42184508dup | CA983804178 | HCRT | c.45_56dup (p.Leu19_Leu20insLeuLeuLeuLeu)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.42184495G>A | CA500214061 | HCRT | c.55C>T (p.Leu19=)
| gnomAD v4 |
17 | g.42184495G>C | CA399562404 | HCRT | c.55C>G (p.Leu19Val)
| |
17 | g.42184495G>T | CA399562405 | HCRT | c.55C>A (p.Leu19Met)
| |
17 | g.42184496C>A | CA8573275 | HCRT | c.54G>T (p.Leu18=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42184496C= | CA2260368408 | HCRT | c.54G= (p.Leu18=)
| |
17 | g.42184496C>G | CA500214062 | HCRT | c.54G>C (p.Leu18=)
| |
17 | g.42184496C>T | CA500214063 | HCRT | c.54G>A (p.Leu18=)
| gnomAD v4 |
17 | g.42184497del | CA2637931013 | HCRT | c.53del (p.Leu18ArgfsTer?)
| gnomAD v4 |
17 | g.42184497A>C | CA399562406 | HCRT | c.53T>G (p.Leu18Arg)
| |
17 | g.42184497A>G | CA399562407 | HCRT | c.53T>C (p.Leu18Pro)
| |
17 | g.42184497A>T | CA399562408 | HCRT | c.53T>A (p.Leu18Gln)
| |
17 | g.42184500_42184508dup | CA626217903 | HCRT | c.45_53dup (p.Leu18_Leu19insLeuLeuLeu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42184498G>A | CA500214064 | HCRT | c.52C>T (p.Leu18=)
| gnomAD v4 |
17 | g.42184498G>C | CA399562409 | HCRT | c.52C>G (p.Leu18Val)
| |
17 | g.42184498G>T | CA399562410 | HCRT | c.52C>A (p.Leu18Met)
| gnomAD v4 |
17 | g.42184498_42184499del | CA2637931014 | HCRT | c.51_52del (p.Leu18AlafsTer?)
| gnomAD v4 |
17 | g.42184499C>A | CA500214066 | HCRT | c.51G>T (p.Leu17=)
| |
17 | g.42184499C= | CA2260368409 | HCRT | c.51G= (p.Leu17=)
| |
17 | g.42184499C>G | CA500214065 | HCRT | c.51G>C (p.Leu17=)
| |
17 | g.42184499C>T | CA500214067 | HCRT | c.51G>A (p.Leu17=)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.42184499_42184500del | CA2637931015 | HCRT | c.50_51del (p.Leu17ProfsTer?)
| gnomAD v4 |
17 | g.42184500A>C | CA399562411 | HCRT | c.50T>G (p.Leu17Arg)
| |
17 | g.42184500A>G | CA399562412 | HCRT | c.50T>C (p.Leu17Pro)
| |
17 | g.42184500A>T | CA399562413 | HCRT | c.50T>A (p.Leu17Gln)
| |
17 | g.42184503_42184508dup | CA2260368410 | HCRT | c.45_50dup (p.Leu17_Leu18insLeuLeu)
| dbSNP |
17 | g.42184501G>A | CA500214068 | HCRT | c.49C>T (p.Leu17=)
| gnomAD v4 |
17 | g.42184501G>C | CA399562414 | HCRT | c.49C>G (p.Leu17Val)
| |
17 | g.42184501G>T | CA399562415 | HCRT | c.49C>A (p.Leu17Met)
| gnomAD v4 |
17 | g.42184502C>A | CA500214069 | HCRT | c.48G>T (p.Leu16=)
| gnomAD v4 |
17 | g.42184502C= | CA2260368411 | HCRT | c.48G= (p.Leu16=)
| |
17 | g.42184502C>G | CA500214070 | HCRT | c.48G>C (p.Leu16=)
| |
17 | g.42184502C>T | CA8573276 | HCRT | c.48G>A (p.Leu16=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42184503A= | CA2260368412 | HCRT | c.47T= (p.Leu16=)
| |
17 | g.42184503A>C | CA118704 | HCRT | c.47T>G (p.Leu16Arg)
| ClinVar dbSNP |
17 | g.42184503A>G | CA399562416 | HCRT | c.47T>C (p.Leu16Pro)
| |
17 | g.42184503A>T | CA399562417 | HCRT | c.47T>A (p.Leu16Gln)
| |
17 | g.42184504G>A | CA500214071 | HCRT | c.46C>T (p.Leu16=)
| gnomAD v4 |
17 | g.42184504G>C | CA399562418 | HCRT | c.46C>G (p.Leu16Val)
| dbSNP |
17 | g.42184504G= | CA2260368413 | HCRT | c.46C= (p.Leu16=)
| |
17 | g.42184504G>T | CA399562419 | HCRT | c.46C>A (p.Leu16Met)
| gnomAD v4 |
17 | g.42184505T>A | CA500214072 | HCRT | c.45A>T (p.Leu15=)
| |
17 | g.42184505T>C | CA290717931 | HCRT | c.45A>G (p.Leu15=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.42184505T>G | CA500214073 | HCRT | c.45A>C (p.Leu15=)
| |
17 | g.42184505T= | CA2260368414 | HCRT | c.45A= (p.Leu15=)
| |
17 | g.42184506A= | CA2260368415 | HCRT | c.44T= (p.Leu15=)
| |
17 | g.42184506A>C | CA399562420 | HCRT | c.44T>G (p.Leu15Arg)
| |
17 | g.42184506A>G | CA399562421 | HCRT | c.44T>C (p.Leu15Pro)
| dbSNP gnomAD v4 |
17 | g.42184506A>T | CA399562422 | HCRT | c.44T>A (p.Leu15Gln)
| |
17 | g.42184507G>A | CA500214074 | HCRT | c.43C>T (p.Leu15=)
| gnomAD v4 |
17 | g.42184507G>C | CA399562423 | HCRT | c.43C>G (p.Leu15Val)
| dbSNP gnomAD v4 |
17 | g.42184507G= | CA2260368416 | HCRT | c.43C= (p.Leu15=)
| |
17 | g.42184507G>T | CA399562424 | HCRT | c.43C>A (p.Leu15Ile)
| gnomAD v4 |
17 | g.42184508C>A | CA500214075 | HCRT | c.42G>T (p.Thr14=)
| gnomAD v4 |
17 | g.42184508C= | CA2260368417 | HCRT | c.42G= (p.Thr14=)
| |
17 | g.42184508C>G | CA500214077 | HCRT | c.42G>C (p.Thr14=)
| |
17 | g.42184508C>T | CA500214076 | HCRT | c.42G>A (p.Thr14=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42184509G>A | CA8573277 | HCRT | c.41C>T (p.Thr14Met)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42184509G>C | CA399562425 | HCRT | c.41C>G (p.Thr14Arg)
| |
17 | g.42184509G= | CA2260368418 | HCRT | c.41C= (p.Thr14=)
| |
17 | g.42184509G>T | CA399562426 | HCRT | c.41C>A (p.Thr14Lys)
| gnomAD v4 |
17 | g.42184510T>A | CA399562429 | HCRT | c.40A>T (p.Thr14Ser)
| |
17 | g.42184510T>C | CA399562428 | HCRT | c.40A>G (p.Thr14Ala)
| dbSNP |
17 | g.42184510T>G | CA399562427 | HCRT | c.40A>C (p.Thr14Pro)
| |
17 | g.42184511C>A | CA500214078 | HCRT | c.39G>T (p.Val13=)
| gnomAD v4 |
17 | g.42184511C>G | CA500214080 | HCRT | c.39G>C (p.Val13=)
| |
17 | g.42184511C>T | CA500214079 | HCRT | c.39G>A (p.Val13=)
| |
17 | g.42184512A>C | CA399562430 | HCRT | c.38T>G (p.Val13Gly)
| |
17 | g.42184512A>G | CA399562432 | HCRT | c.38T>C (p.Val13Ala)
| |
17 | g.42184512A>T | CA399562431 | HCRT | c.38T>A (p.Val13Glu)
| |
17 | g.42184513C>A | CA399562433 | HCRT | c.37G>T (p.Val13Leu)
| gnomAD v4 |
17 | g.42184513C>G | CA399562434 | HCRT | c.37G>C (p.Val13Leu)
| |
17 | g.42184513C>T | CA399562435 | HCRT | c.37G>A (p.Val13Met)
| gnomAD v4 |
17 | g.42184514G>A | CA500214082 | HCRT | c.36C>T (p.Ala12=)
| dbSNP gnomAD v4 |
17 | g.42184514G>C | CA500214081 | HCRT | c.36C>G (p.Ala12=)
| |
17 | g.42184514G= | CA2260368419 | HCRT | c.36C= (p.Ala12=)
| |
17 | g.42184514G>T | CA8573278 | HCRT | c.36C>A (p.Ala12=)
| dbSNP ExAC gnomAD v4 |
17 | g.42184515G>A | CA399562436 | HCRT | c.35C>T (p.Ala12Val)
| gnomAD v4 |
17 | g.42184515G>C | CA399562437 | HCRT | c.35C>G (p.Ala12Gly)
| |
17 | g.42184515G>T | CA399562438 | HCRT | c.35C>A (p.Ala12Asp)
| gnomAD v4 |
17 | g.42184516C>A | CA8573279 | HCRT | c.34G>T (p.Ala12Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42184516C= | CA2260368420 | HCRT | c.34G= (p.Ala12=)
| |
17 | g.42184516C>G | CA399562439 | HCRT | c.34G>C (p.Ala12Pro)
| gnomAD v4 |
17 | g.42184516C>T | CA8573280 | HCRT | c.34G>A (p.Ala12Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42184517G>A | CA290717935 | HCRT | c.33C>T (p.Ala11=)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.42184517G>C | CA500214083 | HCRT | c.33C>G (p.Ala11=)
| |
17 | g.42184517G= | CA2260368421 | HCRT | c.33C= (p.Ala11=)
| |
17 | g.42184517G>T | CA500214084 | HCRT | c.33C>A (p.Ala11=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.42184518G>A | CA399562442 | HCRT | c.32C>T (p.Ala11Val)
| dbSNP gnomAD v4 |
17 | g.42184518G>C | CA399562441 | HCRT | c.32C>G (p.Ala11Gly)
| |
17 | g.42184518G= | CA2260368422 | HCRT | c.32C= (p.Ala11=)
| |
17 | g.42184518G>T | CA399562440 | HCRT | c.32C>A (p.Ala11Asp)
| |
17 | g.42184519C>A | CA399562443 | HCRT | c.31G>T (p.Ala11Ser)
| |
17 | g.42184519C>G | CA399562444 | HCRT | c.31G>C (p.Ala11Pro)
| |
17 | g.42184519C>T | CA399562445 | HCRT | c.31G>A (p.Ala11Thr)
| gnomAD v4 |
17 | g.42184520C>A | CA399562446 | HCRT | c.30G>T (p.Trp10Cys)
| gnomAD v4 |
17 | g.42184520C>G | CA399562447 | HCRT | c.30G>C (p.Trp10Cys)
| |
17 | g.42184520C>T | CA399562448 | HCRT | c.30G>A (p.Trp10Ter)
| |
17 | g.42184521C>A | CA399562449 | HCRT | c.29G>T (p.Trp10Leu)
| gnomAD v4 |
17 | g.42184521C= | CA2260368423 | HCRT | c.29G= (p.Trp10=)
| |
17 | g.42184521C>G | CA399562450 | HCRT | c.29G>C (p.Trp10Ser)
| |
17 | g.42184521C>T | CA399562451 | HCRT | c.29G>A (p.Trp10Ter)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
17 | g.42184522A= | CA2260368424 | HCRT | c.28T= (p.Trp10=)
| |
17 | g.42184522A>C | CA399562452 | HCRT | c.28T>G (p.Trp10Gly)
| |
17 | g.42184522A>G | CA290717936 | HCRT | c.28T>C (p.Trp10Arg)
| dbSNP gnomAD v4 |
17 | g.42184522A>T | CA399562453 | HCRT | c.28T>A (p.Trp10Arg)
| |
17 | g.42184523G>A | CA500214086 | HCRT | c.27C>T (p.Ser9=)
| gnomAD v4 |
17 | g.42184523G>C | CA500214085 | HCRT | c.27C>G (p.Ser9=)
| |
17 | g.42184523G>T | CA500214087 | HCRT | c.27C>A (p.Ser9=)
| gnomAD v4 |
17 | g.42184524G>A | CA399562455 | HCRT | c.26C>T (p.Ser9Phe)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42184524G>C | CA399562456 | HCRT | c.26C>G (p.Ser9Cys)
| |
17 | g.42184524G= | CA2260368425 | HCRT | c.26C= (p.Ser9=)
| |
17 | g.42184524G>T | CA399562454 | HCRT | c.26C>A (p.Ser9Tyr)
| |
17 | g.42184525A>C | CA399562457 | HCRT | c.25T>G (p.Ser9Ala)
| |
17 | g.42184525A>G | CA399562458 | HCRT | c.25T>C (p.Ser9Pro)
| |
17 | g.42184525A>T | CA399562459 | HCRT | c.25T>A (p.Ser9Thr)
| |
17 | g.42184526del | CA2576273571 | HCRT | c.24del (p.Ser9ProfsTer5)
| |
17 | g.42184526G>A | CA500214088 | HCRT | c.24C>T (p.Val8=)
| gnomAD v4 |
17 | g.42184526G>C | CA500214089 | HCRT | c.24C>G (p.Val8=)
| |
17 | g.42184526G>T | CA500214090 | HCRT | c.24C>A (p.Val8=)
| |
17 | g.42184527A= | CA2260368426 | HCRT | c.23T= (p.Val8=)
| |
17 | g.42184527A>C | CA399562460 | HCRT | c.23T>G (p.Val8Gly)
| |
17 | g.42184527A>G | CA399562461 | HCRT | c.23T>C (p.Val8Ala)
| |
17 | g.42184527A>T | CA399562462 | HCRT | c.23T>A (p.Val8Asp)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.42184528C>A | CA399562463 | HCRT | c.22G>T (p.Val8Phe)
| gnomAD v4 |
17 | g.42184528C>G | CA399562464 | HCRT | c.22G>C (p.Val8Leu)
| |
17 | g.42184528C>T | CA399562465 | HCRT | c.22G>A (p.Val8Ile)
| |
17 | g.42184529C>A | CA399562466 | HCRT | c.22-1G>T (n.22-1G>T)
| gnomAD v4 |
17 | g.42184529C>G | CA399562467 | HCRT | c.22-1G>C (n.22-1G>C)
| |
17 | g.42184529C>T | CA399562468 | HCRT | c.22-1G>A (n.22-1G>A)
| gnomAD v4 |
17 | g.42184530T>A | CA399562470 | HCRT | c.22-2A>T (n.22-2A>T)
| |
17 | g.42184530T>C | CA399562471 | HCRT | c.22-2A>G (n.22-2A>G)
| gnomAD v4 |
17 | g.42184530T>G | CA399562469 | HCRT | c.22-2A>C (n.22-2A>C)
| |
17 | g.42184530_42184539del | CA2637931016 | HCRT | c.22-11_22-2del (n.22-11_22-2del)
| gnomAD v4 |
17 | g.42184532G>T | CA2637931017 | HCRT | c.22-4C>A (n.22-4C>A)
| gnomAD v4 |
17 | g.42184534dup | CA2637931018 | HCRT | c.22-4dup (n.22-4dup)
| gnomAD v4 |
17 | g.42184533G>A | CA8573281 | HCRT | c.22-5C>T (n.22-5C>T)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42184533G= | CA2260368427 | HCRT | c.22-5C= (n.22-5C=)
| |
17 | g.42184533G>T | CA2637931019 | HCRT | c.22-5C>A (n.22-5C>A)
| gnomAD v4 |
17 | g.42184534G>C | CA2637931020 | HCRT | c.22-6C>G (n.22-6C>G)
| gnomAD v4 |
17 | g.42184534G= | CA2260368428 | HCRT | c.22-6C= (n.22-6C=)
| |
17 | g.42184534G>T | CA8573282 | HCRT | c.22-6C>A (n.22-6C>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42184536G>T | CA2637931021 | HCRT | c.22-8C>A (n.22-8C>A)
| gnomAD v4 |
17 | g.42184537A>G | CA2637931022 | HCRT | c.22-9T>C (n.22-9T>C)
| gnomAD v4 |