Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.41354195_41354214delinsGGTGTGGGTCACCAGAGAAACA2336426943TMEM91c.-30+2993_-30+3012delinsGGTGTGGGTCACCAGAGAAA (n.-30+2993_-30+3012delinsGGTGTGGGTCACCAGAGAAA)
c.22_41delinsGGTGTGGGTCACCAGAGAAA (p.Gly8=)
n.350+2993_350+3012delinsGGTGTGGGTCACCAGAGAAA
19g.41354197_41354215delCA633167810TMEM91c.-30+2995_-30+3013del (n.-30+2995_-30+3013del)
c.24_42del (p.Val9GlyfsTer?)
n.350+2995_350+3013del
 dbSNP gnomAD v2 gnomAD v4
19g.41354201G>ACA406006706TMEM91c.-30+2999G>A (n.-30+2999G>A)
c.28G>A (p.Gly10Ser)
n.350+2999G>A
19g.41354201G>CCA406006708TMEM91c.-30+2999G>C (n.-30+2999G>C)
c.28G>C (p.Gly10Arg)
n.350+2999G>C
 dbSNP gnomAD v2 gnomAD v4
19g.41354201G=CA2336426947TMEM91c.-30+2999G= (n.-30+2999G=)
c.28G= (p.Gly10=)
n.350+2999G=
19g.41354201G>TCA406006704TMEM91c.-30+2999G>T (n.-30+2999G>T)
c.28G>T (p.Gly10Cys)
n.350+2999G>T
 gnomAD v4
19g.41354202G>ACA308519867TMEM91c.-30+3000G>A (n.-30+3000G>A)
c.29G>A (p.Gly10Asp)
n.350+3000G>A
 dbSNP gnomAD v4
19g.41354202G>CCA406006710TMEM91c.-30+3000G>C (n.-30+3000G>C)
c.29G>C (p.Gly10Ala)
n.350+3000G>C
19g.41354202G=CA2336426948TMEM91c.-30+3000G= (n.-30+3000G=)
c.29G= (p.Gly10=)
n.350+3000G=
19g.41354202G>TCA406006712TMEM91c.-30+3000G>T (n.-30+3000G>T)
c.29G>T (p.Gly10Val)
n.350+3000G>T
 gnomAD v4
19g.41354203T>ACA507559432TMEM91c.-30+3001T>A (n.-30+3001T>A)
c.30T>A (p.Gly10=)
n.350+3001T>A
19g.41354203T>CCA507559434TMEM91c.-30+3001T>C (n.-30+3001T>C)
c.30T>C (p.Gly10=)
n.350+3001T>C
19g.41354203T>GCA507559438TMEM91c.-30+3001T>G (n.-30+3001T>G)
c.30T>G (p.Gly10=)
n.350+3001T>G
19g.41354204C>ACA406006714TMEM91c.-30+3002C>A (n.-30+3002C>A)
c.31C>A (p.His11Asn)
n.350+3002C>A
 gnomAD v4
19g.41354204C>GCA406006716TMEM91c.-30+3002C>G (n.-30+3002C>G)
c.31C>G (p.His11Asp)
n.350+3002C>G
19g.41354204C>TCA406006717TMEM91c.-30+3002C>T (n.-30+3002C>T)
c.31C>T (p.His11Tyr)
n.350+3002C>T
 gnomAD v4
19g.41354205A>CCA406006719TMEM91c.-30+3003A>C (n.-30+3003A>C)
c.32A>C (p.His11Pro)
n.350+3003A>C
19g.41354205A>GCA406006721TMEM91c.-30+3003A>G (n.-30+3003A>G)
c.32A>G (p.His11Arg)
n.350+3003A>G
19g.41354205A>TCA406006723TMEM91c.-30+3003A>T (n.-30+3003A>T)
c.32A>T (p.His11Leu)
n.350+3003A>T
19g.41354206C>ACA406006724TMEM91c.-30+3004C>A (n.-30+3004C>A)
c.33C>A (p.His11Gln)
n.350+3004C>A
19g.41354206C>GCA406006726TMEM91c.-30+3004C>G (n.-30+3004C>G)
c.33C>G (p.His11Gln)
n.350+3004C>G
19g.41354206C>TCA507559449TMEM91c.-30+3004C>T (n.-30+3004C>T)
c.33C>T (p.His11=)
n.350+3004C>T
19g.41354207delCA2585298664TMEM91c.-30+3005del (n.-30+3005del)
c.34del (p.Gln12ArgfsTer?)
n.350+3005del
 gnomAD v4
19g.41354207C>ACA406006729TMEM91c.-30+3005C>A (n.-30+3005C>A)
c.34C>A (p.Gln12Lys)
n.350+3005C>A
 gnomAD v4
19g.41354207C>GCA406006730TMEM91c.-30+3005C>G (n.-30+3005C>G)
c.34C>G (p.Gln12Glu)
n.350+3005C>G
19g.41354207C>TCA406006728TMEM91c.-30+3005C>T (n.-30+3005C>T)
c.34C>T (p.Gln12Ter)
n.350+3005C>T
19g.41354207_41354211delinsCAGAGCA2336426949TMEM91c.-30+3005_-30+3009delinsCAGAG (n.-30+3005_-30+3009delinsCAGAG)
c.34_38delinsCAGAG (p.Gln12=)
n.350+3005_350+3009delinsCAGAG
19g.41354208A>CCA406006731TMEM91c.-30+3006A>C (n.-30+3006A>C)
c.35A>C (p.Gln12Pro)
n.350+3006A>C
19g.41354208A>GCA406006733TMEM91c.-30+3006A>G (n.-30+3006A>G)
c.35A>G (p.Gln12Arg)
n.350+3006A>G
19g.41354208A>TCA406006734TMEM91c.-30+3006A>T (n.-30+3006A>T)
c.35A>T (p.Gln12Leu)
n.350+3006A>T
19g.41354209_41354212delCA633167811TMEM91c.-30+3007_-30+3010del (n.-30+3007_-30+3010del)
c.36_39del (p.Lys14GlyfsTer?)
n.350+3007_350+3010del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41354209G>ACA308519877TMEM91c.-30+3007G>A (n.-30+3007G>A)
c.36G>A (p.Gln12=)
n.350+3007G>A
 dbSNP gnomAD v3 gnomAD v4
19g.41354209G>CCA406006736TMEM91c.-30+3007G>C (n.-30+3007G>C)
c.36G>C (p.Gln12His)
n.350+3007G>C
19g.41354209G=CA2336426951TMEM91c.-30+3007G= (n.-30+3007G=)
c.36G= (p.Gln12=)
n.350+3007G=
19g.41354209G>TCA406006737TMEM91c.-30+3007G>T (n.-30+3007G>T)
c.36G>T (p.Gln12His)
n.350+3007G>T
 gnomAD v4
19g.41354210_41354211insTGACA2585298665TMEM91c.-30+3008_-30+3009insTGA (n.-30+3008_-30+3009insTGA)
c.37_38insTGA (p.Gln12_Arg13insMet)
n.350+3008_350+3009insTGA
 gnomAD v4
19g.41354209_41354213delinsGAGAACA2336426950TMEM91c.-30+3007_-30+3011delinsGAGAA (n.-30+3007_-30+3011delinsGAGAA)
c.36_40delinsGAGAA (p.Gln12=)
n.350+3007_350+3011delinsGAGAA
19g.41354210A>CCA507559463TMEM91c.-30+3008A>C (n.-30+3008A>C)
c.37A>C (p.Arg13=)
n.350+3008A>C
 gnomAD v4
19g.41354210A>GCA406006740TMEM91c.-30+3008A>G (n.-30+3008A>G)
c.37A>G (p.Arg13Gly)
n.350+3008A>G
19g.41354210A>TCA406006739TMEM91c.-30+3008A>T (n.-30+3008A>T)
c.37A>T (p.Arg13Ter)
n.350+3008A>T
19g.41354213_41354216delCA633167812TMEM91c.-30+3011_-30+3014del (n.-30+3011_-30+3014del)
c.40_43del (p.Lys14GlyfsTer?)
n.350+3011_350+3014del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.41354211G>ACA406006742TMEM91c.-30+3009G>A (n.-30+3009G>A)
c.38G>A (p.Arg13Lys)
n.350+3009G>A
 dbSNP gnomAD v3 gnomAD v4
19g.41354211G>CCA406006744TMEM91c.-30+3009G>C (n.-30+3009G>C)
c.38G>C (p.Arg13Thr)
n.350+3009G>C
19g.41354211G=CA2336426953TMEM91c.-30+3009G= (n.-30+3009G=)
c.38G= (p.Arg13=)
n.350+3009G=
19g.41354211G>TCA406006745TMEM91c.-30+3009G>T (n.-30+3009G>T)
c.38G>T (p.Arg13Ile)
n.350+3009G>T
 gnomAD v4
19g.41354211_41354213delinsGAACA2336426952TMEM91c.-30+3009_-30+3011delinsGAA (n.-30+3009_-30+3011delinsGAA)
c.38_40delinsGAA (p.Arg13=)
n.350+3009_350+3011delinsGAA
19g.41354212A>CCA406006747TMEM91c.-30+3010A>C (n.-30+3010A>C)
c.39A>C (p.Arg13Ser)
n.350+3010A>C
19g.41354212A>GCA507559472TMEM91c.-30+3010A>G (n.-30+3010A>G)
c.39A>G (p.Arg13=)
n.350+3010A>G
 gnomAD v4
19g.41354212A>TCA406006748TMEM91c.-30+3010A>T (n.-30+3010A>T)
c.39A>T (p.Arg13Ser)
n.350+3010A>T
19g.41354213_41354214delCA9460197TMEM91c.-30+3011_-30+3012del (n.-30+3011_-30+3012del)
c.40_41del (p.Lys14GlufsTer8)
n.350+3011_350+3012del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched