Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.177404171_177404243delinsCTCCTTCCCCCCCCCACTTCCTAACCTCCCGGGGTCTGGGACTGAGGCGGGGTCCGGGTCGTGGGCTGAGGCTCA1603608868F12,SLC34A1c.971_1018+25delinsAGCCTCAGCCCACGACCCGGACCCCGCCTCAGTCCCAGACCCCGGGAGGTTAGGAAGTGGGGGGGGGAAGGAG
c.-45+645_-45+717delinsCTCCTTCCCCCCCCCACTTCCTAACCTCCCGGGGTCTGGGACTGAGGCGGGGTCCGGGTCGTGGGCTGAGGCT (p.=)
n.230_277+25delinsAGCCTCAGCCCACGACCCGGACCCCGCCTCAGTCCCAGACCCCGGGAGGTTAGGAAGTGGGGGGGGGAAGGAG
n.343_390+25delinsAGCCTCAGCCCACGACCCGGACCCCGCCTCAGTCCCAGACCCCGGGAGGTTAGGAAGTGGGGGGGGGAAGGAG
n.230_302delinsAGCCTCAGCCCACGACCCGGACCCCGCCTCAGTCCCAGACCCCGGGAGGTTAGGAAGTGGGGGGGGGAAGGAG
c.635_682+25delinsAGCCTCAGCCCACGACCCGGACCCCGCCTCAGTCCCAGACCCCGGGAGGTTAGGAAGTGGGGGGGGGAAGGAG
c.1416+7097_1416+7169delinsCTCCTTCCCCCCCCCACTTCCTAACCTCCCGGGGTCTGGGACTGAGGCGGGGTCCGGGTCGTGGGCTGAGGCT (p.=)
5g.177404174_177404245delCA3581301F12,SLC34A1c.971_1018+24del
c.-45+648_-45+719del (p.=)
n.230_277+24del
n.343_390+24del
n.230_301del
c.635_682+24del
c.1416+7100_1416+7171del (p.=)
ClinVar dbSNP ExAC gnomAD
5g.177404231G>ACA362328271F12,SLC34A1c.983C>T (p.Thr328Met)
c.-45+705G>A (p.=)
n.242C>T
n.355C>T
c.647C>T (p.Thr216Met)
c.1416+7157G>A (p.=)
COSMIC
5g.177404231G>CCA114819F12,SLC34A1c.983C>G (p.Thr328Arg)
c.-45+705G>C (p.=)
n.242C>G
n.355C>G
c.647C>G (p.Thr216Arg)
c.1416+7157G>C (p.=)
ClinVar dbSNP
5g.177404231G=CA1603609022F12,SLC34A1c.983C= (p.Thr328=)
c.-45+705G= (p.=)
n.242C=
n.355C=
c.647C= (p.Thr216=)
c.1416+7157G= (p.=)
5g.177404231G>TCA114817F12,SLC34A1c.983C>A (p.Thr328Lys)
c.-45+705G>T (p.=)
n.242C>A
n.355C>A
c.647C>A (p.Thr216Lys)
c.1416+7157G>T (p.=)
ClinVar dbSNP ExAC gnomAD
5g.177404232T>ACA362328275F12,SLC34A1c.982A>T (p.Thr328Ser)
c.-45+706T>A (p.=)
n.241A>T
n.354A>T
c.646A>T (p.Thr216Ser)
c.1416+7158T>A (p.=)
5g.177404232T>CCA362328277F12,SLC34A1c.982A>G (p.Thr328Ala)
c.-45+706T>C (p.=)
n.241A>G
n.354A>G
c.646A>G (p.Thr216Ala)
c.1416+7158T>C (p.=)
5g.177404232T>GCA362328278F12,SLC34A1c.982A>C (p.Thr328Pro)
c.-45+706T>G (p.=)
n.241A>C
n.354A>C
c.646A>C (p.Thr216Pro)
c.1416+7158T>G (p.=)
5g.177404233G>ACA447965044F12,SLC34A1c.981C>T (p.Pro327=)
c.-45+707G>A (p.=)
n.240C>T
n.353C>T
c.645C>T (p.Pro215=)
c.1416+7159G>A (p.=)
5g.177404233G>CCA447965046F12,SLC34A1c.981C>G (p.Pro327=)
c.-45+707G>C (p.=)
n.240C>G
n.353C>G
c.645C>G (p.Pro215=)
c.1416+7159G>C (p.=)
5g.177404233G>TCA447965052F12,SLC34A1c.981C>A (p.Pro327=)
c.-45+707G>T (p.=)
n.240C>A
n.353C>A
c.645C>A (p.Pro215=)
c.1416+7159G>T (p.=)
5g.177404234G>ACA362328279F12,SLC34A1c.980C>T (p.Pro327Leu)
c.-45+708G>A (p.=)
n.239C>T
n.352C>T
c.644C>T (p.Pro215Leu)
c.1416+7160G>A (p.=)
5g.177404234G>CCA362328280F12,SLC34A1c.980C>G (p.Pro327Arg)
c.-45+708G>C (p.=)
n.239C>G
n.352C>G
c.644C>G (p.Pro215Arg)
c.1416+7160G>C (p.=)
5g.177404234G>TCA362328282F12,SLC34A1c.980C>A (p.Pro327His)
c.-45+708G>T (p.=)
n.239C>A
n.352C>A
c.644C>A (p.Pro215His)
c.1416+7160G>T (p.=)
5g.177404235G>ACA362328284F12,SLC34A1c.979C>T (p.Pro327Ser)
c.-45+709G>A (p.=)
n.238C>T
n.351C>T
c.643C>T (p.Pro215Ser)
c.1416+7161G>A (p.=)
5g.177404235G>CCA362328287F12,SLC34A1c.979C>G (p.Pro327Ala)
c.-45+709G>C (p.=)
n.238C>G
n.351C>G
c.643C>G (p.Pro215Ala)
c.1416+7161G>C (p.=)
5g.177404235G=CA1603609028F12,SLC34A1c.979C= (p.Pro327=)
c.-45+709G= (p.=)
n.238C=
n.351C=
c.643C= (p.Pro215=)
c.1416+7161G= (p.=)
5g.177404235G>TCA362328286F12,SLC34A1c.979C>A (p.Pro327Thr)
c.-45+709G>T (p.=)
n.238C>A
n.351C>A
c.643C>A (p.Pro215Thr)
c.1416+7161G>T (p.=)
5g.177404236C>ACA362328288F12,SLC34A1c.978G>T (p.Gln326His)
c.-45+710C>A (p.=)
n.237G>T
n.350G>T
c.642G>T (p.Gln214His)
c.1416+7162C>A (p.=)
5g.177404236C=CA1603609030F12,SLC34A1c.978G= (p.Gln326=)
c.-45+710C= (p.=)
n.237G=
n.350G=
c.642G= (p.Gln214=)
c.1416+7162C= (p.=)
5g.177404236C>GCA362328290F12,SLC34A1c.978G>C (p.Gln326His)
c.-45+710C>G (p.=)
n.237G>C
n.350G>C
c.642G>C (p.Gln214His)
c.1416+7162C>G (p.=)
5g.177404236C>TCA3581332F12,SLC34A1c.978G>A (p.Gln326=)
c.-45+710C>T (p.=)
n.237G>A
n.350G>A
c.642G>A (p.Gln214=)
c.1416+7162C>T (p.=)
dbSNP ExAC gnomAD
5g.177404237T>ACA362328291F12,SLC34A1c.977A>T (p.Gln326Leu)
c.-45+711T>A (p.=)
n.236A>T
n.349A>T
c.641A>T (p.Gln214Leu)
c.1416+7163T>A (p.=)
5g.177404237T>CCA362328293F12,SLC34A1c.977A>G (p.Gln326Arg)
c.-45+711T>C (p.=)
n.236A>G
n.349A>G
c.641A>G (p.Gln214Arg)
c.1416+7163T>C (p.=)
5g.177404237T>GCA362328294F12,SLC34A1c.977A>C (p.Gln326Pro)
c.-45+711T>G (p.=)
n.236A>C
n.349A>C
c.641A>C (p.Gln214Pro)
c.1416+7163T>G (p.=)
5g.177404238G>ACA362328296F12,SLC34A1c.976C>T (p.Gln326Ter)
c.-45+712G>A (p.=)
n.235C>T
n.348C>T
c.640C>T (p.Gln214Ter)
c.1416+7164G>A (p.=)
5g.177404238G>CCA362328297F12,SLC34A1c.976C>G (p.Gln326Glu)
c.-45+712G>C (p.=)
n.235C>G
n.348C>G
c.640C>G (p.Gln214Glu)
c.1416+7164G>C (p.=)
5g.177404238G>TCA362328298F12,SLC34A1c.976C>A (p.Gln326Lys)
c.-45+712G>T (p.=)
n.235C>A
n.348C>A
c.640C>A (p.Gln214Lys)
c.1416+7164G>T (p.=)
5g.177404239A>CCA447965075F12,SLC34A1c.975T>G (p.Pro325=)
c.-45+713A>C (p.=)
n.234T>G
n.347T>G
c.639T>G (p.Pro213=)
c.1416+7165A>C (p.=)
5g.177404239A>GCA447965069F12,SLC34A1c.975T>C (p.Pro325=)
c.-45+713A>G (p.=)
n.234T>C
n.347T>C
c.639T>C (p.Pro213=)
c.1416+7165A>G (p.=)
5g.177404239A>TCA447965067F12,SLC34A1c.975T>A (p.Pro325=)
c.-45+713A>T (p.=)
n.234T>A
n.347T>A
c.639T>A (p.Pro213=)
c.1416+7165A>T (p.=)
5g.177404240G>ACA362328303F12,SLC34A1c.974C>T (p.Pro325Leu)
c.-45+714G>A (p.=)
n.233C>T
n.346C>T
c.638C>T (p.Pro213Leu)
c.1416+7166G>A (p.=)
5g.177404240G>CCA362328300F12,SLC34A1c.974C>G (p.Pro325Arg)
c.-45+714G>C (p.=)
n.233C>G
n.346C>G
c.638C>G (p.Pro213Arg)
c.1416+7166G>C (p.=)
5g.177404240G>TCA362328299F12,SLC34A1c.974C>A (p.Pro325His)
c.-45+714G>T (p.=)
n.233C>A
n.346C>A
c.638C>A (p.Pro213His)
c.1416+7166G>T (p.=)
5g.177404241G>ACA362328305F12,SLC34A1c.973C>T (p.Pro325Ser)
c.-45+715G>A (p.=)
n.232C>T
n.345C>T
c.637C>T (p.Pro213Ser)
c.1416+7167G>A (p.=)
5g.177404241G>CCA132836529F12,SLC34A1c.973C>G (p.Pro325Ala)
c.-45+715G>C (p.=)
n.232C>G
n.345C>G
c.637C>G (p.Pro213Ala)
c.1416+7167G>C (p.=)
dbSNP
5g.177404241G=CA1603609034F12,SLC34A1c.973C= (p.Pro325=)
c.-45+715G= (p.=)
n.232C=
n.345C=
c.637C= (p.Pro213=)
c.1416+7167G= (p.=)
5g.177404241G>TCA362328307F12,SLC34A1c.973C>A (p.Pro325Thr)
c.-45+715G>T (p.=)
n.232C>A
n.345C>A
c.637C>A (p.Pro213Thr)
c.1416+7167G>T (p.=)
5g.177404242C>ACA362328309F12,SLC34A1c.972G>T (p.Lys324Asn)
c.-45+716C>A (p.=)
n.231G>T
n.344G>T
c.636G>T (p.Lys212Asn)
c.1416+7168C>A (p.=)
5g.177404242C=CA1603609038F12,SLC34A1c.972G= (p.Lys324=)
c.-45+716C= (p.=)
n.231G=
n.344G=
c.636G= (p.Lys212=)
c.1416+7168C= (p.=)
5g.177404242C>GCA362328311F12,SLC34A1c.972G>C (p.Lys324Asn)
c.-45+716C>G (p.=)
n.231G>C
n.344G>C
c.636G>C (p.Lys212Asn)
c.1416+7168C>G (p.=)
5g.177404242C>TCA3581333F12,SLC34A1c.972G>A (p.Lys324=)
c.-45+716C>T (p.=)
n.231G>A
n.344G>A
c.636G>A (p.Lys212=)
c.1416+7168C>T (p.=)
dbSNP ExAC gnomAD
5g.177404243T>ACA362328315F12,SLC34A1c.971A>T (p.Lys324Met)
c.-45+717T>A (p.=)
n.230A>T
n.343A>T
c.635A>T (p.Lys212Met)
c.1416+7169T>A (p.=)
5g.177404243T>CCA362328316F12,SLC34A1c.971A>G (p.Lys324Arg)
c.-45+717T>C (p.=)
n.230A>G
n.343A>G
c.635A>G (p.Lys212Arg)
c.1416+7169T>C (p.=)
5g.177404243T>GCA362328317F12,SLC34A1c.971A>C (p.Lys324Thr)
c.-45+717T>G (p.=)
n.230A>C
n.343A>C
c.635A>C (p.Lys212Thr)
c.1416+7169T>G (p.=)
5g.177404244T>ACA362328319F12,SLC34A1c.970A>T (p.Lys324Ter)
c.-45+718T>A (p.=)
n.229A>T
n.342A>T
c.634A>T (p.Lys212Ter)
c.1416+7170T>A (p.=)
5g.177404244T>CCA362328321F12,SLC34A1c.970A>G (p.Lys324Glu)
c.-45+718T>C (p.=)
n.229A>G
n.342A>G
c.634A>G (p.Lys212Glu)
c.1416+7170T>C (p.=)
5g.177404244T>GCA362328323F12,SLC34A1c.970A>C (p.Lys324Gln)
c.-45+718T>G (p.=)
n.229A>C
n.342A>C
c.634A>C (p.Lys212Gln)
c.1416+7170T>G (p.=)
5g.177404245C>ACA447965096F12,SLC34A1c.969G>T (p.Pro323=)
c.-45+719C>A (p.=)
n.228G>T
n.341G>T
c.633G>T (p.Pro211=)
c.1416+7171C>A (p.=)

Number of alleles fetched