Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.29252019_29252035delinsTATAGGCTTTGAACACCCA2254677690CRYBA1c.216-45_216-29delinsTATAGGCTTTGAACACC (n.216-45_216-29delinsTATAGGCTTTGAACACC)
c.206-1621_206-1605delinsTATAGGCTTTGAACACC
c.519-45_519-29delinsTATAGGCTTTGAACACC (n.519-45_519-29delinsTATAGGCTTTGAACACC)
17g.29252022_29252037delCA8473717CRYBA1c.216-42_216-27del (n.216-42_216-27del)
c.206-1618_206-1603del
c.519-42_519-27del (n.519-42_519-27del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.29252022_29252024delinsAGGCA2254677694CRYBA1c.216-42_216-40delinsAGG (n.216-42_216-40delinsAGG)
c.206-1618_206-1616delinsAGG
c.519-42_519-40delinsAGG (n.519-42_519-40delinsAGG)
17g.29252023G>ACA2636943197CRYBA1c.216-41G>A (n.216-41G>A)
c.206-1617G>A
c.519-41G>A (n.519-41G>A)
 gnomAD v4
17g.29252023G>CCA289216020CRYBA1c.216-41G>C (n.216-41G>C)
c.206-1617G>C
c.519-41G>C (n.519-41G>C)
 dbSNP
17g.29252023G=CA2254677695CRYBA1c.216-41G= (n.216-41G=)
c.206-1617G=
c.519-41G= (n.519-41G=)
17g.29252023_29252024delCA8473720CRYBA1c.216-41_216-40del (n.216-41_216-40del)
c.206-1617_206-1616del
c.519-41_519-40del (n.519-41_519-40del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.29252024G>ACA289216023CRYBA1c.216-40G>A (n.216-40G>A)
c.206-1616G>A
c.519-40G>A (n.519-40G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.29252024G=CA2254677696CRYBA1c.216-40G= (n.216-40G=)
c.206-1616G=
c.519-40G= (n.519-40G=)
17g.29252025C=CA2254677697CRYBA1c.216-39C= (n.216-39C=)
c.206-1615C=
c.519-39C= (n.519-39C=)
17g.29252025C>TCA289216025CRYBA1c.216-39C>T (n.216-39C>T)
c.206-1615C>T
c.519-39C>T (n.519-39C>T)
 dbSNP
17g.29252026T>CCA8473721CRYBA1c.216-38T>C (n.216-38T>C)
c.206-1614T>C
c.519-38T>C (n.519-38T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.29252026T=CA2254677698CRYBA1c.216-38T= (n.216-38T=)
c.206-1614T=
c.519-38T= (n.519-38T=)
17g.29252027T>ACA8473722CRYBA1c.216-37T>A (n.216-37T>A)
c.206-1613T>A
c.519-37T>A (n.519-37T>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.29252027T=CA2254677699CRYBA1c.216-37T= (n.216-37T=)
c.206-1613T=
c.519-37T= (n.519-37T=)
17g.29252028T>CCA2636943198CRYBA1c.216-36T>C (n.216-36T>C)
c.206-1612T>C
c.519-36T>C (n.519-36T>C)
 gnomAD v4
17g.29252029G>ACA8473723CRYBA1c.216-35G>A (n.216-35G>A)
c.206-1611G>A
c.519-35G>A (n.519-35G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.29252029G=CA2254677701CRYBA1c.216-35G= (n.216-35G=)
c.206-1611G=
c.519-35G= (n.519-35G=)
17g.29252029G>TCA2254677700CRYBA1c.216-35G>T (n.216-35G>T)
c.206-1611G>T
c.519-35G>T (n.519-35G>T)
 dbSNP gnomAD v4
17g.29252030A=CA2254677702CRYBA1c.216-34A= (n.216-34A=)
c.206-1610A=
c.519-34A= (n.519-34A=)
17g.29252030A>CCA625422910CRYBA1c.216-34A>C (n.216-34A>C)
c.206-1610A>C
c.519-34A>C (n.519-34A>C)
 dbSNP gnomAD v2 gnomAD v4
17g.29252033A=CA2254677703CRYBA1c.216-31A= (n.216-31A=)
c.206-1607A=
c.519-31A= (n.519-31A=)
17g.29252033A>CCA2581300268CRYBA1c.216-31A>C (n.216-31A>C)
c.206-1607A>C
c.519-31A>C (n.519-31A>C)
17g.29252033A>GCA8473724CRYBA1c.216-31A>G (n.216-31A>G)
c.206-1607A>G
c.519-31A>G (n.519-31A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.29252033A>TCA2581300267CRYBA1c.216-31A>T (n.216-31A>T)
c.206-1607A>T
c.519-31A>T (n.519-31A>T)
 gnomAD v4
17g.29252034C=CA2254677704CRYBA1c.216-30C= (n.216-30C=)
c.206-1606C=
c.519-30C= (n.519-30C=)
17g.29252034C>TCA2254677705CRYBA1c.216-30C>T (n.216-30C>T)
c.206-1606C>T
c.519-30C>T (n.519-30C>T)
 dbSNP gnomAD v4
17g.29252034_29252035insTACA2636943199CRYBA1c.216-30_216-29insTA (n.216-30_216-29insTA)
c.206-1606_206-1605insTA
c.519-30_519-29insTA (n.519-30_519-29insTA)
 gnomAD v4
17g.29252036A=CA2254677706CRYBA1c.216-28A= (n.216-28A=)
c.206-1604A=
c.519-28A= (n.519-28A=)
17g.29252036A>GCA625422912CRYBA1c.216-28A>G (n.216-28A>G)
c.206-1604A>G
c.519-28A>G (n.519-28A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.29252037T>CCA625422913CRYBA1c.216-27T>C (n.216-27T>C)
c.206-1603T>C
c.519-27T>C (n.519-27T>C)
 dbSNP gnomAD v2 gnomAD v4
17g.29252037T=CA2254677707CRYBA1c.216-27T= (n.216-27T=)
c.206-1603T=
c.519-27T= (n.519-27T=)
17g.29252038G>ACA2636943200CRYBA1c.216-26G>A (n.216-26G>A)
c.206-1602G>A
c.519-26G>A (n.519-26G>A)
 gnomAD v4
17g.29252039A>TCA2636943201CRYBA1c.216-25A>T (n.216-25A>T)
c.206-1601A>T
c.519-25A>T (n.519-25A>T)
 gnomAD v4
17g.29252040A=CA2254677708CRYBA1c.216-24A= (n.216-24A=)
c.206-1600A=
c.519-24A= (n.519-24A=)
17g.29252040A>GCA8473725CRYBA1c.216-24A>G (n.216-24A>G)
c.206-1600A>G
c.519-24A>G (n.519-24A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.29252040A>TCA2636943202CRYBA1c.216-24A>T (n.216-24A>T)
c.206-1600A>T
c.519-24A>T (n.519-24A>T)
 gnomAD v4
17g.29252041C>ACA625422915CRYBA1c.216-23C>A (n.216-23C>A)
c.206-1599C>A
c.519-23C>A (n.519-23C>A)
 dbSNP gnomAD v2 gnomAD v4
17g.29252041C=CA2254677709CRYBA1c.216-23C= (n.216-23C=)
c.206-1599C=
c.519-23C= (n.519-23C=)
17g.29252041C>TCA8473726CRYBA1c.216-23C>T (n.216-23C>T)
c.206-1599C>T
c.519-23C>T (n.519-23C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.29252047C=CA2254677710CRYBA1c.216-17C= (n.216-17C=)
c.206-1593C=
c.519-17C= (n.519-17C=)
17g.29252047_29252048insCATCA2254677711CRYBA1c.216-17_216-16insCAT (n.216-17_216-16insCAT)
c.206-1593_206-1592insCAT
c.519-17_519-16insCAT (n.519-17_519-16insCAT)
 dbSNP
17g.29252049A=CA2254677712CRYBA1c.216-15A= (n.216-15A=)
c.206-1591A=
c.519-15A= (n.519-15A=)
17g.29252049A>GCA2254677713CRYBA1c.216-15A>G (n.216-15A>G)
c.206-1591A>G
c.519-15A>G (n.519-15A>G)
 dbSNP gnomAD v3 gnomAD v4
17g.29252050delCA2733634047CRYBA1c.216-14del (n.216-14del)
c.206-1590del
c.519-14del (n.519-14del)
 dbSNP
17g.29252050C>TCA2636943203CRYBA1c.216-14C>T (n.216-14C>T)
c.206-1590C>T
c.519-14C>T (n.519-14C>T)
 gnomAD v4
17g.29252051A=CA2254677714CRYBA1c.216-13A= (n.216-13A=)
c.206-1589A=
c.519-13A= (n.519-13A=)
17g.29252051A>GCA625422917CRYBA1c.216-13A>G (n.216-13A>G)
c.206-1589A>G
c.519-13A>G (n.519-13A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.29252051_29252052delCA2636943204CRYBA1c.216-13_216-12del (n.216-13_216-12del)
c.206-1589_206-1588del
c.519-13_519-12del (n.519-13_519-12del)
 gnomAD v4
17g.29252052T>CCA982814498CRYBA1c.216-12T>C (n.216-12T>C)
c.206-1588T>C
c.519-12T>C (n.519-12T>C)
 dbSNP gnomAD v3 gnomAD v4
17g.29252052T=CA2254677715CRYBA1c.216-12T= (n.216-12T=)
c.206-1588T=
c.519-12T= (n.519-12T=)
17g.29252053delCA2636943205CRYBA1c.216-11del (n.216-11del)
c.206-1587del
c.519-11del (n.519-11del)
 gnomAD v4
17g.29252053G>ACA2254677716CRYBA1c.216-11G>A (n.216-11G>A)
c.206-1587G>A
c.519-11G>A (n.519-11G>A)
 dbSNP
17g.29252053G=CA2254677717CRYBA1c.216-11G= (n.216-11G=)
c.206-1587G=
c.519-11G= (n.519-11G=)
17g.29252055C=CA2254677718CRYBA1c.216-9C= (n.216-9C=)
c.206-1585C=
c.519-9C= (n.519-9C=)
17g.29252055C>TCA915949644CRYBA1c.216-9C>T (n.216-9C>T)
c.206-1585C>T
c.519-9C>T (n.519-9C>T)
 ClinVar dbSNP
17g.29252058T>CCA8473727CRYBA1c.216-6T>C (n.216-6T>C)
c.206-1582T>C
c.519-6T>C (n.519-6T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.29252058T=CA2254677719CRYBA1c.216-6T= (n.216-6T=)
c.206-1582T=
c.519-6T= (n.519-6T=)
17g.29252058_29252059delinsTGCA2254677720CRYBA1c.216-6_216-5delinsTG (n.216-6_216-5delinsTG)
c.206-1582_206-1581delinsTG
c.519-6_519-5delinsTG (n.519-6_519-5delinsTG)
17g.29252060delCA2254677721CRYBA1c.216-4del (n.216-4del)
c.206-1580del
c.519-4del (n.519-4del)
 dbSNP
17g.29252062A>CCA398476534CRYBA1c.216-2A>C (n.216-2A>C)
c.206-1578A>C
c.519-2A>C (n.519-2A>C)
17g.29252062A>GCA398476536CRYBA1c.216-2A>G (n.216-2A>G)
c.206-1578A>G
c.519-2A>G (n.519-2A>G)
17g.29252062A>TCA398476538CRYBA1c.216-2A>T (n.216-2A>T)
c.206-1578A>T
c.519-2A>T (n.519-2A>T)
17g.29252063G>ACA398476541CRYBA1c.216-1G>A (n.216-1G>A)
c.206-1577G>A
c.519-1G>A (n.519-1G>A)
17g.29252063G>CCA398476543CRYBA1c.216-1G>C (n.216-1G>C)
c.206-1577G>C
c.519-1G>C (n.519-1G>C)
17g.29252063G>TCA398476546CRYBA1c.216-1G>T (n.216-1G>T)
c.206-1577G>T
c.519-1G>T (n.519-1G>T)
17g.29252064C>ACA499147418CRYBA1c.216C>A (p.Ala72=)
c.206-1576C>A
c.519C>A (p.Ala173=)
 dbSNP
17g.29252064C=CA2254677722CRYBA1c.216C= (p.Ala72=)
c.206-1576C=
c.519C= (p.Ala173=)
17g.29252064C>GCA499147419CRYBA1c.216C>G (p.Ala72=)
c.206-1576C>G
c.519C>G (p.Ala173=)
17g.29252064C>TCA499147420CRYBA1c.216C>T (p.Ala72=)
c.206-1576C>T
c.519C>T (p.Ala173=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.29252065T>ACA398476549CRYBA1c.217T>A (p.Trp73Arg)
c.206-1575T>A
c.520T>A (p.Trp174Arg)
17g.29252065T>CCA398476550CRYBA1c.217T>C (p.Trp73Arg)
c.206-1575T>C
c.520T>C (p.Trp174Arg)
17g.29252065T>GCA398476552CRYBA1c.217T>G (p.Trp73Gly)
c.206-1575T>G
c.520T>G (p.Trp174Gly)
17g.29252066G>ACA398476555CRYBA1c.218G>A (p.Trp73Ter)
c.206-1574G>A
c.521G>A (p.Trp174Ter)
 gnomAD v4
17g.29252066G>CCA398476559CRYBA1c.218G>C (p.Trp73Ser)
c.206-1574G>C
c.521G>C (p.Trp174Ser)
17g.29252066G>TCA398476557CRYBA1c.218G>T (p.Trp73Leu)
c.206-1574G>T
c.521G>T (p.Trp174Leu)
17g.29252067G>ACA398476562CRYBA1c.219G>A (p.Trp73Ter)
c.206-1573G>A
c.522G>A (p.Trp174Ter)
17g.29252067G>CCA398476567CRYBA1c.219G>C (p.Trp73Cys)
c.206-1573G>C
c.522G>C (p.Trp174Cys)
17g.29252067G>TCA398476564CRYBA1c.219G>T (p.Trp73Cys)
c.206-1573G>T
c.522G>T (p.Trp174Cys)
17g.29252068A>CCA398476570CRYBA1c.220A>C (p.Ile74Leu)
c.206-1572A>C
c.523A>C (p.Ile175Leu)
17g.29252068A>GCA398476572CRYBA1c.220A>G (p.Ile74Val)
c.206-1572A>G
c.523A>G (p.Ile175Val)
17g.29252068A>TCA398476573CRYBA1c.220A>T (p.Ile74Phe)
c.206-1572A>T
c.523A>T (p.Ile175Phe)
17g.29252069T>ACA8473728CRYBA1c.221T>A (p.Ile74Asn)
c.206-1571T>A
c.524T>A (p.Ile175Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.29252069T>CCA8473729CRYBA1c.221T>C (p.Ile74Thr)
c.206-1571T>C
c.524T>C (p.Ile175Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.29252069T>GCA398476575CRYBA1c.221T>G (p.Ile74Ser)
c.206-1571T>G
c.524T>G (p.Ile175Ser)
17g.29252069T=CA2254677723CRYBA1c.221T= (p.Ile74=)
c.206-1571T=
c.524T= (p.Ile175=)
17g.29252070T>ACA499147421CRYBA1c.222T>A (p.Ile74=)
c.206-1570T>A
c.525T>A (p.Ile175=)
17g.29252070T>CCA499147422CRYBA1c.222T>C (p.Ile74=)
c.206-1570T>C
c.525T>C (p.Ile175=)
17g.29252070T>GCA398476576CRYBA1c.222T>G (p.Ile74Met)
c.206-1570T>G
c.525T>G (p.Ile175Met)
17g.29252071G>ACA398476577CRYBA1c.223G>A (p.Gly75Ser)
c.206-1569G>A
c.526G>A (p.Gly176Ser)
 gnomAD v4
17g.29252071G>CCA398476578CRYBA1c.223G>C (p.Gly75Arg)
c.206-1569G>C
c.526G>C (p.Gly176Arg)
17g.29252071G>TCA398476579CRYBA1c.223G>T (p.Gly75Cys)
c.206-1569G>T
c.526G>T (p.Gly176Cys)
17g.29252072G>ACA8473730CRYBA1c.224G>A (p.Gly75Asp)
c.206-1568G>A
c.527G>A (p.Gly176Asp)
 dbSNP ExAC gnomAD v2
17g.29252072G>CCA398476581CRYBA1c.224G>C (p.Gly75Ala)
c.206-1568G>C
c.527G>C (p.Gly176Ala)
17g.29252072G=CA2254677724CRYBA1c.224G= (p.Gly75=)
c.206-1568G=
c.527G= (p.Gly176=)
17g.29252072G>TCA398476580CRYBA1c.224G>T (p.Gly75Val)
c.206-1568G>T
c.527G>T (p.Gly176Val)
 gnomAD v4
17g.29252073T>ACA499147423CRYBA1c.225T>A (p.Gly75=)
c.206-1567T>A
c.528T>A (p.Gly176=)
17g.29252073T>CCA289216092CRYBA1c.225T>C (p.Gly75=)
c.206-1567T>C
c.528T>C (p.Gly176=)
 dbSNP gnomAD v4
17g.29252073T>GCA499147424CRYBA1c.225T>G (p.Gly75=)
c.206-1567T>G
c.528T>G (p.Gly176=)
 gnomAD v4
17g.29252073T=CA2254677725CRYBA1c.225T= (p.Gly75=)
c.206-1567T=
c.528T= (p.Gly176=)
17g.29252074T>ACA398476582CRYBA1c.226T>A (p.Tyr76Asn)
c.206-1566T>A
c.529T>A (p.Tyr177Asn)
17g.29252074T>CCA398476583CRYBA1c.226T>C (p.Tyr76His)
c.206-1566T>C
c.529T>C (p.Tyr177His)
17g.29252074T>GCA398476584CRYBA1c.226T>G (p.Tyr76Asp)
c.206-1566T>G
c.529T>G (p.Tyr177Asp)
17g.29252075A=CA2254677726CRYBA1c.227A= (p.Tyr76=)
c.206-1565A=
c.530A= (p.Tyr177=)
17g.29252075A>CCA398476585CRYBA1c.227A>C (p.Tyr76Ser)
c.206-1565A>C
c.530A>C (p.Tyr177Ser)
17g.29252075A>GCA398476586CRYBA1c.227A>G (p.Tyr76Cys)
c.206-1565A>G
c.530A>G (p.Tyr177Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.29252075A>TCA398476587CRYBA1c.227A>T (p.Tyr76Phe)
c.206-1565A>T
c.530A>T (p.Tyr177Phe)
17g.29252076T>ACA398476588CRYBA1c.228T>A (p.Tyr76Ter)
c.206-1564T>A
c.531T>A (p.Tyr177Ter)
17g.29252076T>CCA499147425CRYBA1c.228T>C (p.Tyr76=)
c.206-1564T>C
c.531T>C (p.Tyr177=)
 dbSNP
17g.29252076T>GCA398476589CRYBA1c.228T>G (p.Tyr76Ter)
c.206-1564T>G
c.531T>G (p.Tyr177Ter)
17g.29252076T=CA2254677727CRYBA1c.228T= (p.Tyr76=)
c.206-1564T=
c.531T= (p.Tyr177=)
17g.29252077G>ACA8473731CRYBA1c.229G>A (p.Glu77Lys)
c.206-1563G>A
c.532G>A (p.Glu178Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.29252077G>CCA398476590CRYBA1c.229G>C (p.Glu77Gln)
c.206-1563G>C
c.532G>C (p.Glu178Gln)
 gnomAD v4
17g.29252077G=CA2254677728CRYBA1c.229G= (p.Glu77=)
c.206-1563G=
c.532G= (p.Glu178=)
17g.29252077G>TCA398476591CRYBA1c.229G>T (p.Glu77Ter)
c.206-1563G>T
c.532G>T (p.Glu178Ter)
17g.29252078A>CCA398476593CRYBA1c.230A>C (p.Glu77Ala)
c.206-1562A>C
c.533A>C (p.Glu178Ala)
17g.29252078A>GCA398476594CRYBA1c.230A>G (p.Glu77Gly)
c.206-1562A>G
c.533A>G (p.Glu178Gly)
17g.29252078A>TCA398476592CRYBA1c.230A>T (p.Glu77Val)
c.206-1562A>T
c.533A>T (p.Glu178Val)
17g.29252079G>ACA499147426CRYBA1c.231G>A (p.Glu77=)
c.206-1561G>A
c.534G>A (p.Glu178=)
 gnomAD v4
17g.29252079G>CCA398476595CRYBA1c.231G>C (p.Glu77Asp)
c.206-1561G>C
c.534G>C (p.Glu178Asp)
17g.29252079G>TCA398476596CRYBA1c.231G>T (p.Glu77Asp)
c.206-1561G>T
c.534G>T (p.Glu178Asp)
17g.29252080C>ACA398476597CRYBA1c.232C>A (p.His78Asn)
c.206-1560C>A
c.535C>A (p.His179Asn)
17g.29252080C>GCA398476598CRYBA1c.232C>G (p.His78Asp)
c.206-1560C>G
c.535C>G (p.His179Asp)
17g.29252080C>TCA398476599CRYBA1c.232C>T (p.His78Tyr)
c.206-1560C>T
c.535C>T (p.His179Tyr)
17g.29252081A>CCA398476600CRYBA1c.233A>C (p.His78Pro)
c.206-1559A>C
c.536A>C (p.His179Pro)
17g.29252081A>GCA398476601CRYBA1c.233A>G (p.His78Arg)
c.206-1559A>G
c.536A>G (p.His179Arg)
17g.29252081A>TCA398476602CRYBA1c.233A>T (p.His78Leu)
c.206-1559A>T
c.536A>T (p.His179Leu)
17g.29252082T>ACA398476603CRYBA1c.234T>A (p.His78Gln)
c.206-1558T>A
c.537T>A (p.His179Gln)
17g.29252082T>CCA499147427CRYBA1c.234T>C (p.His78=)
c.206-1558T>C
c.537T>C (p.His179=)
 gnomAD v4
17g.29252082T>GCA398476604CRYBA1c.234T>G (p.His78Gln)
c.206-1558T>G
c.537T>G (p.His179Gln)
17g.29252083A=CA2254677729CRYBA1c.235A= (p.Thr79=)
c.206-1557A=
c.538A= (p.Thr180=)
17g.29252083A>CCA398476605CRYBA1c.235A>C (p.Thr79Pro)
c.206-1557A>C
c.538A>C (p.Thr180Pro)
17g.29252083A>GCA8473732CRYBA1c.235A>G (p.Thr79Ala)
c.206-1557A>G
c.538A>G (p.Thr180Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17g.29252083A>TCA398476606CRYBA1c.235A>T (p.Thr79Ser)
c.206-1557A>T
c.538A>T (p.Thr180Ser)
17g.29252084C>ACA398476609CRYBA1c.236C>A (p.Thr79Asn)
c.206-1556C>A
c.539C>A (p.Thr180Asn)
17g.29252084C>GCA398476608CRYBA1c.236C>G (p.Thr79Ser)
c.206-1556C>G
c.539C>G (p.Thr180Ser)
17g.29252084C>TCA398476607CRYBA1c.236C>T (p.Thr79Ile)
c.206-1556C>T
c.539C>T (p.Thr180Ile)
 gnomAD v4
17g.29252085C>ACA499147428CRYBA1c.237C>A (p.Thr79=)
c.206-1555C>A
c.540C>A (p.Thr180=)
17g.29252085C>GCA499147429CRYBA1c.237C>G (p.Thr79=)
c.206-1555C>G
c.540C>G (p.Thr180=)
17g.29252085C>TCA499147430CRYBA1c.237C>T (p.Thr79=)
c.206-1555C>T
c.540C>T (p.Thr180=)
17g.29252086A=CA2254677730CRYBA1c.238A= (p.Ser80=)
c.206-1554A=
c.541A= (p.Ser181=)
17g.29252086A>CCA398476610CRYBA1c.238A>C (p.Ser80Arg)
c.206-1554A>C
c.541A>C (p.Ser181Arg)
 dbSNP gnomAD v2
17g.29252086A>GCA289216101CRYBA1c.238A>G (p.Ser80Gly)
c.206-1554A>G
c.541A>G (p.Ser181Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.29252086A>TCA398476611CRYBA1c.238A>T (p.Ser80Cys)
c.206-1554A>T
c.541A>T (p.Ser181Cys)
17g.29252087G>ACA8473733CRYBA1c.239G>A (p.Ser80Asn)
c.206-1553G>A
c.542G>A (p.Ser181Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.29252087G>CCA398476612CRYBA1c.239G>C (p.Ser80Thr)
c.206-1553G>C
c.542G>C (p.Ser181Thr)
17g.29252087G=CA2254677731CRYBA1c.239G= (p.Ser80=)
c.206-1553G=
c.542G= (p.Ser181=)
17g.29252087G>TCA398476613CRYBA1c.239G>T (p.Ser80Ile)
c.206-1553G>T
c.542G>T (p.Ser181Ile)
17g.29252088C>ACA398476614CRYBA1c.240C>A (p.Ser80Arg)
c.206-1552C>A
c.543C>A (p.Ser181Arg)
17g.29252088C=CA2254677732CRYBA1c.240C= (p.Ser80=)
c.206-1552C=
c.543C= (p.Ser181=)
17g.29252088C>GCA398476615CRYBA1c.240C>G (p.Ser80Arg)
c.206-1552C>G
c.543C>G (p.Ser181Arg)
17g.29252088C>TCA8473734CRYBA1c.240C>T (p.Ser80=)
c.206-1552C>T
c.543C>T (p.Ser181=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.29252089T>ACA398476616CRYBA1c.241T>A (p.Phe81Ile)
c.206-1551T>A
c.544T>A (p.Phe182Ile)
17g.29252089T>CCA398476617CRYBA1c.241T>C (p.Phe81Leu)
c.206-1551T>C
c.544T>C (p.Phe182Leu)
17g.29252089T>GCA398476618CRYBA1c.241T>G (p.Phe81Val)
c.206-1551T>G
c.544T>G (p.Phe182Val)
17g.29252089_29252090dupCA2254677733CRYBA1c.241_242dup (p.Cys82SerfsTer?)
c.206-1551_206-1550dup
c.544_545dup (p.Cys183SerfsTer?)
 dbSNP
17g.29252090T>ACA398476619CRYBA1c.242T>A (p.Phe81Tyr)
c.206-1550T>A
c.545T>A (p.Phe182Tyr)
17g.29252090T>CCA398476621CRYBA1c.242T>C (p.Phe81Ser)
c.206-1550T>C
c.545T>C (p.Phe182Ser)
17g.29252090T>GCA398476620CRYBA1c.242T>G (p.Phe81Cys)
c.206-1550T>G
c.545T>G (p.Phe182Cys)
17g.29252091C>ACA398476622CRYBA1c.243C>A (p.Phe81Leu)
c.206-1549C>A
c.546C>A (p.Phe182Leu)
17g.29252091C>GCA398476623CRYBA1c.243C>G (p.Phe81Leu)
c.206-1549C>G
c.546C>G (p.Phe182Leu)
17g.29252091C>TCA499147431CRYBA1c.243C>T (p.Phe81=)
c.206-1549C>T
c.546C>T (p.Phe182=)
 COSMIC
17g.29252092T>ACA398476624CRYBA1c.244T>A (p.Cys82Ser)
c.206-1548T>A
c.547T>A (p.Cys183Ser)
17g.29252092T>CCA398476626CRYBA1c.244T>C (p.Cys82Arg)
c.206-1548T>C
c.547T>C (p.Cys183Arg)
 dbSNP gnomAD v2 gnomAD v4
17g.29252092T>GCA398476625CRYBA1c.244T>G (p.Cys82Gly)
c.206-1548T>G
c.547T>G (p.Cys183Gly)
17g.29252092T=CA2254677734CRYBA1c.244T= (p.Cys82=)
c.206-1548T=
c.547T= (p.Cys183=)
17g.29252093G>ACA398476627CRYBA1c.245G>A (p.Cys82Tyr)
c.206-1547G>A
c.548G>A (p.Cys183Tyr)
17g.29252093G>CCA398476629CRYBA1c.245G>C (p.Cys82Ser)
c.206-1547G>C
c.548G>C (p.Cys183Ser)
17g.29252093G>TCA398476628CRYBA1c.245G>T (p.Cys82Phe)
c.206-1547G>T
c.548G>T (p.Cys183Phe)
17g.29252094T>ACA398476630CRYBA1c.246T>A (p.Cys82Ter)
c.206-1546T>A
c.549T>A (p.Cys183Ter)
17g.29252094T>CCA499147432CRYBA1c.246T>C (p.Cys82=)
c.206-1546T>C
c.549T>C (p.Cys183=)
 dbSNP gnomAD v3 gnomAD v4
17g.29252094T>GCA398476631CRYBA1c.246T>G (p.Cys82Trp)
c.206-1546T>G
c.549T>G (p.Cys183Trp)
17g.29252094T=CA2254677735CRYBA1c.246T= (p.Cys82=)
c.206-1546T=
c.549T= (p.Cys183=)
17g.29252095G>ACA398476632CRYBA1c.247G>A (p.Gly83Arg)
c.206-1545G>A
c.550G>A (p.Gly184Arg)
17g.29252095G>CCA398476633CRYBA1c.247G>C (p.Gly83Arg)
c.206-1545G>C
c.550G>C (p.Gly184Arg)
17g.29252095G>TCA398476634CRYBA1c.247G>T (p.Gly83Trp)
c.206-1545G>T
c.550G>T (p.Gly184Trp)
17g.29252096G>ACA398476635CRYBA1c.248G>A (p.Gly83Glu)
c.206-1544G>A
c.551G>A (p.Gly184Glu)
17g.29252096G>CCA398476636CRYBA1c.248G>C (p.Gly83Ala)
c.206-1544G>C
c.551G>C (p.Gly184Ala)
17g.29252096G>TCA398476637CRYBA1c.248G>T (p.Gly83Val)
c.206-1544G>T
c.551G>T (p.Gly184Val)
 COSMIC
17g.29252097G>ACA499147433CRYBA1c.249G>A (p.Gly83=)
c.206-1543G>A
c.552G>A (p.Gly184=)
 dbSNP gnomAD v2 gnomAD v4
17g.29252097G>CCA289216104CRYBA1c.249G>C (p.Gly83=)
c.206-1543G>C
c.552G>C (p.Gly184=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.29252097G=CA2254677736CRYBA1c.249G= (p.Gly83=)
c.206-1543G=
c.552G= (p.Gly184=)
17g.29252097G>TCA499147434CRYBA1c.249G>T (p.Gly83=)
c.206-1543G>T
c.552G>T (p.Gly184=)
17g.29252098C>ACA398476638CRYBA1c.250C>A (p.Gln84Lys)
c.206-1542C>A
c.553C>A (p.Gln185Lys)
17g.29252098C=CA2254677737CRYBA1c.250C= (p.Gln84=)
c.206-1542C=
c.553C= (p.Gln185=)
17g.29252098C>GCA398476639CRYBA1c.250C>G (p.Gln84Glu)
c.206-1542C>G
c.553C>G (p.Gln185Glu)
17g.29252098C>TCA398476640CRYBA1c.250C>T (p.Gln84Ter)
c.206-1542C>T
c.553C>T (p.Gln185Ter)
 dbSNP gnomAD v3 gnomAD v4
17g.29252099A>CCA398476643CRYBA1c.251A>C (p.Gln84Pro)
c.206-1541A>C
c.554A>C (p.Gln185Pro)
17g.29252099A>GCA398476641CRYBA1c.251A>G (p.Gln84Arg)
c.206-1541A>G
c.554A>G (p.Gln185Arg)
 gnomAD v4
17g.29252099A>TCA398476642CRYBA1c.251A>T (p.Gln84Leu)
c.206-1541A>T
c.554A>T (p.Gln185Leu)
17g.29252099_29252101delinsAACCA2254677738CRYBA1c.251_253delinsAAC (p.Gln84=)
c.206-1541_206-1539delinsAAC
c.554_556delinsAAC (p.Gln185=)
17g.29252100A>CCA398476644CRYBA1c.252A>C (p.Gln84His)
c.206-1540A>C
c.555A>C (p.Gln185His)
17g.29252100A>GCA499147435CRYBA1c.252A>G (p.Gln84=)
c.206-1540A>G
c.555A>G (p.Gln185=)
 gnomAD v4
17g.29252100A>TCA398476645CRYBA1c.252A>T (p.Gln84His)
c.206-1540A>T
c.555A>T (p.Gln185His)
17g.29252101_29252102delCA8473735CRYBA1c.253_254del (p.Gln85ValfsTer18)
c.206-1539_206-1538del
c.556_557del (p.Gln186ValfsTer18)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.29252101C>ACA398476646CRYBA1c.253C>A (p.Gln85Lys)
c.206-1539C>A
c.556C>A (p.Gln186Lys)
17g.29252101C>GCA398476647CRYBA1c.253C>G (p.Gln85Glu)
c.206-1539C>G
c.556C>G (p.Gln186Glu)
17g.29252101C>TCA398476648CRYBA1c.253C>T (p.Gln85Ter)
c.206-1539C>T
c.556C>T (p.Gln186Ter)
17g.29252102A>CCA398476649CRYBA1c.254A>C (p.Gln85Pro)
c.206-1538A>C
c.557A>C (p.Gln186Pro)
17g.29252102A>GCA398476650CRYBA1c.254A>G (p.Gln85Arg)
c.206-1538A>G
c.557A>G (p.Gln186Arg)
17g.29252102A>TCA398476651CRYBA1c.254A>T (p.Gln85Leu)
c.206-1538A>T
c.557A>T (p.Gln186Leu)
17g.29252103G>ACA499147436CRYBA1c.255G>A (p.Gln85=)
c.206-1537G>A
c.558G>A (p.Gln186=)
17g.29252103G>CCA398476653CRYBA1c.255G>C (p.Gln85His)
c.206-1537G>C
c.558G>C (p.Gln186His)
17g.29252103G>TCA398476652CRYBA1c.255G>T (p.Gln85His)
c.206-1537G>T
c.558G>T (p.Gln186His)
17g.29252103_29252104delinsGTCA2254677739CRYBA1c.255_256delinsGT (p.Gln85=)
c.206-1537_206-1536delinsGT
c.558_559delinsGT (p.Gln186=)
17g.29252104T>ACA398476654CRYBA1c.256T>A (p.Phe86Ile)
c.206-1536T>A
c.559T>A (p.Phe187Ile)
17g.29252104T>CCA398476655CRYBA1c.256T>C (p.Phe86Leu)
c.206-1536T>C
c.559T>C (p.Phe187Leu)
17g.29252104T>GCA398476656CRYBA1c.256T>G (p.Phe86Val)
c.206-1536T>G
c.559T>G (p.Phe187Val)
17g.29252106delCA8473736CRYBA1c.258del (p.Phe86LeufsTer?)
c.206-1534del
c.561del (p.Phe187LeufsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.29252105T>ACA398476657CRYBA1c.257T>A (p.Phe86Tyr)
c.206-1535T>A
c.560T>A (p.Phe187Tyr)
17g.29252105T>CCA398476658CRYBA1c.257T>C (p.Phe86Ser)
c.206-1535T>C
c.560T>C (p.Phe187Ser)
17g.29252105T>GCA398476659CRYBA1c.257T>G (p.Phe86Cys)
c.206-1535T>G
c.560T>G (p.Phe187Cys)
17g.29252106T>ACA398476660CRYBA1c.258T>A (p.Phe86Leu)
c.206-1534T>A
c.561T>A (p.Phe187Leu)
17g.29252106T>CCA499147437CRYBA1c.258T>C (p.Phe86=)
c.206-1534T>C
c.561T>C (p.Phe187=)
17g.29252106T>GCA398476661CRYBA1c.258T>G (p.Phe86Leu)
c.206-1534T>G
c.561T>G (p.Phe187Leu)
17g.29252107A=CA2254677740CRYBA1c.259A= (p.Ile87=)
c.206-1533A=
c.562A= (p.Ile188=)
17g.29252107A>CCA398476662CRYBA1c.259A>C (p.Ile87Leu)
c.206-1533A>C
c.562A>C (p.Ile188Leu)
17g.29252107A>GCA398476663CRYBA1c.259A>G (p.Ile87Val)
c.206-1533A>G
c.562A>G (p.Ile188Val)
17g.29252107A>TCA8473737CRYBA1c.259A>T (p.Ile87Phe)
c.206-1533A>T
c.562A>T (p.Ile188Phe)
 dbSNP ExAC gnomAD v2
17g.29252108T>ACA398476665CRYBA1c.260T>A (p.Ile87Asn)
c.206-1532T>A
c.563T>A (p.Ile188Asn)
 dbSNP
17g.29252108T>CCA289216137CRYBA1c.260T>C (p.Ile87Thr)
c.206-1532T>C
c.563T>C (p.Ile188Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.29252108T>GCA398476664CRYBA1c.260T>G (p.Ile87Ser)
c.206-1532T>G
c.563T>G (p.Ile188Ser)
17g.29252108T=CA2254677741CRYBA1c.260T= (p.Ile87=)
c.206-1532T=
c.563T= (p.Ile188=)
17g.29252109C>ACA499147438CRYBA1c.261C>A (p.Ile87=)
c.206-1531C>A
c.564C>A (p.Ile188=)
 gnomAD v4
17g.29252109C=CA2254677742CRYBA1c.261C= (p.Ile87=)
c.206-1531C=
c.564C= (p.Ile188=)
17g.29252109C>GCA398476666CRYBA1c.261C>G (p.Ile87Met)
c.206-1531C>G
c.564C>G (p.Ile188Met)
 dbSNP gnomAD v4
17g.29252109C>TCA499147439CRYBA1c.261C>T (p.Ile87=)
c.206-1531C>T
c.564C>T (p.Ile188=)
 dbSNP
17g.29252110C>ACA398476667CRYBA1c.262C>A (p.Leu88Met)
c.206-1530C>A
c.565C>A (p.Leu189Met)
 gnomAD v4
17g.29252110C>GCA398476668CRYBA1c.262C>G (p.Leu88Val)
c.206-1530C>G
c.565C>G (p.Leu189Val)
17g.29252110C>TCA499147440CRYBA1c.262C>T (p.Leu88=)
c.206-1530C>T
c.565C>T (p.Leu189=)
17g.29252111T>ACA398476669CRYBA1c.263T>A (p.Leu88Gln)
c.206-1529T>A
c.566T>A (p.Leu189Gln)
17g.29252111T>CCA398476670CRYBA1c.263T>C (p.Leu88Pro)
c.206-1529T>C
c.566T>C (p.Leu189Pro)
17g.29252111T>GCA398476671CRYBA1c.263T>G (p.Leu88Arg)
c.206-1529T>G
c.566T>G (p.Leu189Arg)
17g.29252112G>ACA499147441CRYBA1c.264G>A (p.Leu88=)
c.206-1528G>A
c.567G>A (p.Leu189=)
17g.29252112G>CCA499147442CRYBA1c.264G>C (p.Leu88=)
c.206-1528G>C
c.567G>C (p.Leu189=)
17g.29252112G>TCA499147443CRYBA1c.264G>T (p.Leu88=)
c.206-1528G>T
c.567G>T (p.Leu189=)
17g.29252113G>ACA398476672CRYBA1c.265G>A (p.Glu89Lys)
c.206-1527G>A
c.568G>A (p.Glu190Lys)
17g.29252113G>CCA398476673CRYBA1c.265G>C (p.Glu89Gln)
c.206-1527G>C
c.568G>C (p.Glu190Gln)
17g.29252113G>TCA398476674CRYBA1c.265G>T (p.Glu89Ter)
c.206-1527G>T
c.568G>T (p.Glu190Ter)
17g.29252114A=CA2254677743CRYBA1c.266A= (p.Glu89=)
c.206-1526A=
c.569A= (p.Glu190=)
17g.29252114A>CCA398476675CRYBA1c.266A>C (p.Glu89Ala)
c.206-1526A>C
c.569A>C (p.Glu190Ala)
17g.29252114A>GCA398476676CRYBA1c.266A>G (p.Glu89Gly)
c.206-1526A>G
c.569A>G (p.Glu190Gly)
17g.29252114A>TCA8473738CRYBA1c.266A>T (p.Glu89Val)
c.206-1526A>T
c.569A>T (p.Glu190Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.29252114_29252119delinsAGAGAGCA2254677744CRYBA1c.266_271delinsAGAGAG (p.Glu89=)
c.206-1526_206-1521delinsAGAGAG
c.569_574delinsAGAGAG (p.Glu190=)
17g.29252115G>ACA499147444CRYBA1c.267G>A (p.Glu89=)
c.206-1525G>A
c.570G>A (p.Glu190=)
17g.29252115G>CCA289216148CRYBA1c.267G>C (p.Glu89Asp)
c.206-1525G>C
c.570G>C (p.Glu190Asp)
 dbSNP
17g.29252115G=CA2254677746CRYBA1c.267G= (p.Glu89=)
c.206-1525G=
c.570G= (p.Glu190=)
17g.29252115G>TCA398476677CRYBA1c.267G>T (p.Glu89Asp)
c.206-1525G>T
c.570G>T (p.Glu190Asp)
17g.29252119_29252123delCA2254677745CRYBA1c.271_275del (p.Gly91IlefsTer11)
c.206-1521_206-1517del
c.574_578del (p.Gly192IlefsTer11)
 dbSNP
17g.29252116A>CCA499147445CRYBA1c.268A>C (p.Arg90=)
c.206-1524A>C
c.571A>C (p.Arg191=)
17g.29252116A>GCA398476678CRYBA1c.268A>G (p.Arg90Gly)
c.206-1524A>G
c.571A>G (p.Arg191Gly)
17g.29252116A>TCA398476679CRYBA1c.268A>T (p.Arg90Ter)
c.206-1524A>T
c.571A>T (p.Arg191Ter)
17g.29252116_29252119delinsAGAGCA2254677747CRYBA1c.268_271delinsAGAG (p.Arg90=)
c.206-1524_206-1521delinsAGAG
c.571_574delinsAGAG (p.Arg191=)
17g.29252117G>ACA8473739CRYBA1c.269G>A (p.Arg90Lys)
c.206-1523G>A
c.572G>A (p.Arg191Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.29252117G>CCA398476680CRYBA1c.269G>C (p.Arg90Thr)
c.206-1523G>C
c.572G>C (p.Arg191Thr)
17g.29252117G=CA2254677748CRYBA1c.269G= (p.Arg90=)
c.206-1523G=
c.572G= (p.Arg191=)
17g.29252117G>TCA398476681CRYBA1c.269G>T (p.Arg90Ile)
c.206-1523G>T
c.572G>T (p.Arg191Ile)
17g.29252120_29252122delCA16621704CRYBA1c.272_274del (p.Gly91del)
c.206-1520_206-1518del
c.575_577del (p.Gly192del)
 ClinVar dbSNP gnomAD v4 COSMIC
17g.29252118A>CCA398476682CRYBA1c.270A>C (p.Arg90Ser)
c.206-1522A>C
c.573A>C (p.Arg191Ser)
17g.29252118A>GCA499147446CRYBA1c.270A>G (p.Arg90=)
c.206-1522A>G
c.573A>G (p.Arg191=)
17g.29252118A>TCA398476683CRYBA1c.270A>T (p.Arg90Ser)
c.206-1522A>T
c.573A>T (p.Arg191Ser)
17g.29252119G>ACA398476684CRYBA1c.271G>A (p.Gly91Arg)
c.206-1521G>A
c.574G>A (p.Gly192Arg)
 gnomAD v4
17g.29252119G>CCA398476686CRYBA1c.271G>C (p.Gly91Arg)
c.206-1521G>C
c.574G>C (p.Gly192Arg)
 gnomAD v4
17g.29252119G>TCA398476685CRYBA1c.271G>T (p.Gly91Ter)
c.206-1521G>T
c.574G>T (p.Gly192Ter)
17g.29252120G>ACA398476687CRYBA1c.272G>A (p.Gly91Glu)
c.206-1520G>A
c.575G>A (p.Gly192Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.29252120G>CCA398476688CRYBA1c.272G>C (p.Gly91Ala)
c.206-1520G>C
c.575G>C (p.Gly192Ala)
17g.29252120G=CA2254677749CRYBA1c.272G= (p.Gly91=)
c.206-1520G=
c.575G= (p.Gly192=)
17g.29252120G>TCA398476689CRYBA1c.272G>T (p.Gly91Val)
c.206-1520G>T
c.575G>T (p.Gly192Val)
17g.29252121A=CA2254677750CRYBA1c.273A= (p.Gly91=)
c.206-1519A=
c.576A= (p.Gly192=)
17g.29252121A>CCA499147447CRYBA1c.273A>C (p.Gly91=)
c.206-1519A>C
c.576A>C (p.Gly192=)
17g.29252121A>GCA8473740CRYBA1c.273A>G (p.Gly91=)
c.206-1519A>G
c.576A>G (p.Gly192=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.29252121A>TCA499147448CRYBA1c.273A>T (p.Gly91=)
c.206-1519A>T
c.576A>T (p.Gly192=)
17g.29252122G>ACA8473741CRYBA1c.274G>A (p.Glu92Lys)
c.206-1518G>A
c.577G>A (p.Glu193Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.29252122G>CCA8473742CRYBA1c.274G>C (p.Glu92Gln)
c.206-1518G>C
c.577G>C (p.Glu193Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.29252122G=CA2254677751CRYBA1c.274G= (p.Glu92=)
c.206-1518G=
c.577G= (p.Glu193=)
17g.29252122G>TCA398476690CRYBA1c.274G>T (p.Glu92Ter)
c.206-1518G>T
c.577G>T (p.Glu193Ter)
17g.29252123A>CCA398476691CRYBA1c.275A>C (p.Glu92Ala)
c.206-1517A>C
c.578A>C (p.Glu193Ala)
17g.29252123A>GCA398476692CRYBA1c.275A>G (p.Glu92Gly)
c.206-1517A>G
c.578A>G (p.Glu193Gly)
17g.29252123A>TCA398476693CRYBA1c.275A>T (p.Glu92Val)
c.206-1517A>T
c.578A>T (p.Glu193Val)

Number of alleles fetched