Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.53248673C>ACA2569187581IQSEC2c.2618+48G>T (n.2618+48G>T)
c.411+48G>T
c.2459+48G>T (n.2459+48G>T)
c.2429+48G>T (n.2429+48G>T)
c.1844+48G>T (n.1844+48G>T)
c.2555+48G>T (n.2555+48G>T)
c.1781+48G>T (n.1781+48G>T)
c.1748+48G>T (n.1748+48G>T)
n.2782+48G>T
c.1961+48G>T (n.1961+48G>T)
n.2776+48G>T
Xg.53248673C>TCA2843560935IQSEC2c.2618+48G>A (n.2618+48G>A)
c.411+48G>A
c.2459+48G>A (n.2459+48G>A)
c.2429+48G>A (n.2429+48G>A)
c.1844+48G>A (n.1844+48G>A)
c.2555+48G>A (n.2555+48G>A)
c.1781+48G>A (n.1781+48G>A)
c.1748+48G>A (n.1748+48G>A)
n.2782+48G>A
c.1961+48G>A (n.1961+48G>A)
n.2776+48G>A
Xg.53248674T>CCA2693789954IQSEC2c.2618+47A>G (n.2618+47A>G)
c.411+47A>G
c.2459+47A>G (n.2459+47A>G)
c.2429+47A>G (n.2429+47A>G)
c.1844+47A>G (n.1844+47A>G)
c.2555+47A>G (n.2555+47A>G)
c.1781+47A>G (n.1781+47A>G)
c.1748+47A>G (n.1748+47A>G)
n.2782+47A>G
c.1961+47A>G (n.1961+47A>G)
n.2776+47A>G
 gnomAD v4
Xg.53248677dupCA2839073549IQSEC2c.2618+47dup (n.2618+47dup)
c.411+47dup
c.2459+47dup (n.2459+47dup)
c.2429+47dup (n.2429+47dup)
c.1844+47dup (n.1844+47dup)
c.2555+47dup (n.2555+47dup)
c.1781+47dup (n.1781+47dup)
c.1748+47dup (n.1748+47dup)
n.2782+47dup
c.1961+47dup (n.1961+47dup)
n.2776+47dup
Xg.53248677delCA2579614689IQSEC2c.2618+47del (n.2618+47del)
c.411+47del
c.2459+47del (n.2459+47del)
c.2429+47del (n.2429+47del)
c.1844+47del (n.1844+47del)
c.2555+47del (n.2555+47del)
c.1781+47del (n.1781+47del)
c.1748+47del (n.1748+47del)
n.2782+47del
c.1961+47del (n.1961+47del)
n.2776+47del
 gnomAD v4
Xg.53248677T>ACA2838284038IQSEC2c.2618+44A>T (n.2618+44A>T)
c.411+44A>T
c.2459+44A>T (n.2459+44A>T)
c.2429+44A>T (n.2429+44A>T)
c.1844+44A>T (n.1844+44A>T)
c.2555+44A>T (n.2555+44A>T)
c.1781+44A>T (n.1781+44A>T)
c.1748+44A>T (n.1748+44A>T)
n.2782+44A>T
c.1961+44A>T (n.1961+44A>T)
n.2776+44A>T
Xg.53248681G>ACA876276107IQSEC2c.2618+40C>T (n.2618+40C>T)
c.411+40C>T
c.2459+40C>T (n.2459+40C>T)
c.2429+40C>T (n.2429+40C>T)
c.1844+40C>T (n.1844+40C>T)
c.2555+40C>T (n.2555+40C>T)
c.1781+40C>T (n.1781+40C>T)
c.1748+40C>T (n.1748+40C>T)
n.2782+40C>T
c.1961+40C>T (n.1961+40C>T)
n.2776+40C>T
 dbSNP gnomAD v4
Xg.53248681G=CA2429775052IQSEC2c.2618+40C= (n.2618+40C=)
c.411+40C=
c.2459+40C= (n.2459+40C=)
c.2429+40C= (n.2429+40C=)
c.1844+40C= (n.1844+40C=)
c.2555+40C= (n.2555+40C=)
c.1781+40C= (n.1781+40C=)
c.1748+40C= (n.1748+40C=)
n.2782+40C=
c.1961+40C= (n.1961+40C=)
n.2776+40C=
Xg.53248681G>TCA2579614694IQSEC2c.2618+40C>A (n.2618+40C>A)
c.411+40C>A
c.2459+40C>A (n.2459+40C>A)
c.2429+40C>A (n.2429+40C>A)
c.1844+40C>A (n.1844+40C>A)
c.2555+40C>A (n.2555+40C>A)
c.1781+40C>A (n.1781+40C>A)
c.1748+40C>A (n.1748+40C>A)
n.2782+40C>A
c.1961+40C>A (n.1961+40C>A)
n.2776+40C>A
Xg.53248682delCA2843560936IQSEC2c.2618+40del (n.2618+40del)
c.411+40del
c.2459+40del (n.2459+40del)
c.2429+40del (n.2429+40del)
c.1844+40del (n.1844+40del)
c.2555+40del (n.2555+40del)
c.1781+40del (n.1781+40del)
c.1748+40del (n.1748+40del)
n.2782+40del
c.1961+40del (n.1961+40del)
n.2776+40del
Xg.53248682G>ACA2843560937IQSEC2c.2618+39C>T (n.2618+39C>T)
c.411+39C>T
c.2459+39C>T (n.2459+39C>T)
c.2429+39C>T (n.2429+39C>T)
c.1844+39C>T (n.1844+39C>T)
c.2555+39C>T (n.2555+39C>T)
c.1781+39C>T (n.1781+39C>T)
c.1748+39C>T (n.1748+39C>T)
n.2782+39C>T
c.1961+39C>T (n.1961+39C>T)
n.2776+39C>T
Xg.53248683A=CA2429775053IQSEC2c.2618+38T= (n.2618+38T=)
c.411+38T=
c.2459+38T= (n.2459+38T=)
c.2429+38T= (n.2429+38T=)
c.1844+38T= (n.1844+38T=)
c.2555+38T= (n.2555+38T=)
c.1781+38T= (n.1781+38T=)
c.1748+38T= (n.1748+38T=)
n.2782+38T=
c.1961+38T= (n.1961+38T=)
n.2776+38T=
Xg.53248683A>GCA2429775054IQSEC2c.2618+38T>C (n.2618+38T>C)
c.411+38T>C
c.2459+38T>C (n.2459+38T>C)
c.2429+38T>C (n.2429+38T>C)
c.1844+38T>C (n.1844+38T>C)
c.2555+38T>C (n.2555+38T>C)
c.1781+38T>C (n.1781+38T>C)
c.1748+38T>C (n.1748+38T>C)
n.2782+38T>C
c.1961+38T>C (n.1961+38T>C)
n.2776+38T>C
 dbSNP gnomAD v4
Xg.53248685T>CCA2579614697IQSEC2c.2618+36A>G (n.2618+36A>G)
c.411+36A>G
c.2459+36A>G (n.2459+36A>G)
c.2429+36A>G (n.2429+36A>G)
c.1844+36A>G (n.1844+36A>G)
c.2555+36A>G (n.2555+36A>G)
c.1781+36A>G (n.1781+36A>G)
c.1748+36A>G (n.1748+36A>G)
n.2782+36A>G
c.1961+36A>G (n.1961+36A>G)
n.2776+36A>G
 gnomAD v4
Xg.53248686C>TCA2579614698IQSEC2c.2618+35G>A (n.2618+35G>A)
c.411+35G>A
c.2459+35G>A (n.2459+35G>A)
c.2429+35G>A (n.2429+35G>A)
c.1844+35G>A (n.1844+35G>A)
c.2555+35G>A (n.2555+35G>A)
c.1781+35G>A (n.1781+35G>A)
c.1748+35G>A (n.1748+35G>A)
n.2782+35G>A
c.1961+35G>A (n.1961+35G>A)
n.2776+35G>A
 gnomAD v4
Xg.53248687C=CA2429775055IQSEC2c.2618+34G= (n.2618+34G=)
c.411+34G=
c.2459+34G= (n.2459+34G=)
c.2429+34G= (n.2429+34G=)
c.1844+34G= (n.1844+34G=)
c.2555+34G= (n.2555+34G=)
c.1781+34G= (n.1781+34G=)
c.1748+34G= (n.1748+34G=)
n.2782+34G=
c.1961+34G= (n.1961+34G=)
n.2776+34G=
Xg.53248687C>TCA641551555IQSEC2c.2618+34G>A (n.2618+34G>A)
c.411+34G>A
c.2459+34G>A (n.2459+34G>A)
c.2429+34G>A (n.2429+34G>A)
c.1844+34G>A (n.1844+34G>A)
c.2555+34G>A (n.2555+34G>A)
c.1781+34G>A (n.1781+34G>A)
c.1748+34G>A (n.1748+34G>A)
n.2782+34G>A
c.1961+34G>A (n.1961+34G>A)
n.2776+34G>A
 dbSNP gnomAD v2 gnomAD v4
Xg.53248688C>ACA2843560938IQSEC2c.2618+33G>T (n.2618+33G>T)
c.411+33G>T
c.2459+33G>T (n.2459+33G>T)
c.2429+33G>T (n.2429+33G>T)
c.1844+33G>T (n.1844+33G>T)
c.2555+33G>T (n.2555+33G>T)
c.1781+33G>T (n.1781+33G>T)
c.1748+33G>T (n.1748+33G>T)
n.2782+33G>T
c.1961+33G>T (n.1961+33G>T)
n.2776+33G>T
Xg.53248689T>CCA2693789960IQSEC2c.2618+32A>G (n.2618+32A>G)
c.411+32A>G
c.2459+32A>G (n.2459+32A>G)
c.2429+32A>G (n.2429+32A>G)
c.1844+32A>G (n.1844+32A>G)
c.2555+32A>G (n.2555+32A>G)
c.1781+32A>G (n.1781+32A>G)
c.1748+32A>G (n.1748+32A>G)
n.2782+32A>G
c.1961+32A>G (n.1961+32A>G)
n.2776+32A>G
 gnomAD v4
Xg.53248689dupCA2843560939IQSEC2c.2618+32dup (n.2618+32dup)
c.411+32dup
c.2459+32dup (n.2459+32dup)
c.2429+32dup (n.2429+32dup)
c.1844+32dup (n.1844+32dup)
c.2555+32dup (n.2555+32dup)
c.1781+32dup (n.1781+32dup)
c.1748+32dup (n.1748+32dup)
n.2782+32dup
c.1961+32dup (n.1961+32dup)
n.2776+32dup
Xg.53248690G>TCA2843560940IQSEC2c.2618+31C>A (n.2618+31C>A)
c.411+31C>A
c.2459+31C>A (n.2459+31C>A)
c.2429+31C>A (n.2429+31C>A)
c.1844+31C>A (n.1844+31C>A)
c.2555+31C>A (n.2555+31C>A)
c.1781+31C>A (n.1781+31C>A)
c.1748+31C>A (n.1748+31C>A)
n.2782+31C>A
c.1961+31C>A (n.1961+31C>A)
n.2776+31C>A
Xg.53248694delCA2579614699IQSEC2c.2618+29del (n.2618+29del)
c.411+29del
c.2459+29del (n.2459+29del)
c.2429+29del (n.2429+29del)
c.1844+29del (n.1844+29del)
c.2555+29del (n.2555+29del)
c.1781+29del (n.1781+29del)
c.1748+29del (n.1748+29del)
n.2782+29del
c.1961+29del (n.1961+29del)
n.2776+29del
Xg.53248693C>TCA2579614702IQSEC2c.2618+28G>A (n.2618+28G>A)
c.411+28G>A
c.2459+28G>A (n.2459+28G>A)
c.2429+28G>A (n.2429+28G>A)
c.1844+28G>A (n.1844+28G>A)
c.2555+28G>A (n.2555+28G>A)
c.1781+28G>A (n.1781+28G>A)
c.1748+28G>A (n.1748+28G>A)
n.2782+28G>A
c.1961+28G>A (n.1961+28G>A)
n.2776+28G>A
Xg.53248694C>TCA2579614704IQSEC2c.2618+27G>A (n.2618+27G>A)
c.411+27G>A
c.2459+27G>A (n.2459+27G>A)
c.2429+27G>A (n.2429+27G>A)
c.1844+27G>A (n.1844+27G>A)
c.2555+27G>A (n.2555+27G>A)
c.1781+27G>A (n.1781+27G>A)
c.1748+27G>A (n.1748+27G>A)
n.2782+27G>A
c.1961+27G>A (n.1961+27G>A)
n.2776+27G>A
Xg.53248696G>ACA2579614706IQSEC2c.2618+25C>T (n.2618+25C>T)
c.411+25C>T
c.2459+25C>T (n.2459+25C>T)
c.2429+25C>T (n.2429+25C>T)
c.1844+25C>T (n.1844+25C>T)
c.2555+25C>T (n.2555+25C>T)
c.1781+25C>T (n.1781+25C>T)
c.1748+25C>T (n.1748+25C>T)
n.2782+25C>T
c.1961+25C>T (n.1961+25C>T)
n.2776+25C>T
Xg.53248696G>TCA2564398100IQSEC2c.2618+25C>A (n.2618+25C>A)
c.411+25C>A
c.2459+25C>A (n.2459+25C>A)
c.2429+25C>A (n.2429+25C>A)
c.1844+25C>A (n.1844+25C>A)
c.2555+25C>A (n.2555+25C>A)
c.1781+25C>A (n.1781+25C>A)
c.1748+25C>A (n.1748+25C>A)
n.2782+25C>A
c.1961+25C>A (n.1961+25C>A)
n.2776+25C>A
Xg.53248697C>ACA2693789963IQSEC2c.2618+24G>T (n.2618+24G>T)
c.411+24G>T
c.2459+24G>T (n.2459+24G>T)
c.2429+24G>T (n.2429+24G>T)
c.1844+24G>T (n.1844+24G>T)
c.2555+24G>T (n.2555+24G>T)
c.1781+24G>T (n.1781+24G>T)
c.1748+24G>T (n.1748+24G>T)
n.2782+24G>T
c.1961+24G>T (n.1961+24G>T)
n.2776+24G>T
 gnomAD v4
Xg.53248697C=CA2429775056IQSEC2c.2618+24G= (n.2618+24G=)
c.411+24G=
c.2459+24G= (n.2459+24G=)
c.2429+24G= (n.2429+24G=)
c.1844+24G= (n.1844+24G=)
c.2555+24G= (n.2555+24G=)
c.1781+24G= (n.1781+24G=)
c.1748+24G= (n.1748+24G=)
n.2782+24G=
c.1961+24G= (n.1961+24G=)
n.2776+24G=
Xg.53248697C>GCA10419935IQSEC2c.2618+24G>C (n.2618+24G>C)
c.411+24G>C
c.2459+24G>C (n.2459+24G>C)
c.2429+24G>C (n.2429+24G>C)
c.1844+24G>C (n.1844+24G>C)
c.2555+24G>C (n.2555+24G>C)
c.1781+24G>C (n.1781+24G>C)
c.1748+24G>C (n.1748+24G>C)
n.2782+24G>C
c.1961+24G>C (n.1961+24G>C)
n.2776+24G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53248697C>TCA2579614710IQSEC2c.2618+24G>A (n.2618+24G>A)
c.411+24G>A
c.2459+24G>A (n.2459+24G>A)
c.2429+24G>A (n.2429+24G>A)
c.1844+24G>A (n.1844+24G>A)
c.2555+24G>A (n.2555+24G>A)
c.1781+24G>A (n.1781+24G>A)
c.1748+24G>A (n.1748+24G>A)
n.2782+24G>A
c.1961+24G>A (n.1961+24G>A)
n.2776+24G>A
 gnomAD v4
Xg.53248698C=CA2429775057IQSEC2c.2618+23G= (n.2618+23G=)
c.411+23G=
c.2459+23G= (n.2459+23G=)
c.2429+23G= (n.2429+23G=)
c.1844+23G= (n.1844+23G=)
c.2555+23G= (n.2555+23G=)
c.1781+23G= (n.1781+23G=)
c.1748+23G= (n.1748+23G=)
n.2782+23G=
c.1961+23G= (n.1961+23G=)
n.2776+23G=
Xg.53248698C>GCA2693789965IQSEC2c.2618+23G>C (n.2618+23G>C)
c.411+23G>C
c.2459+23G>C (n.2459+23G>C)
c.2429+23G>C (n.2429+23G>C)
c.1844+23G>C (n.1844+23G>C)
c.2555+23G>C (n.2555+23G>C)
c.1781+23G>C (n.1781+23G>C)
c.1748+23G>C (n.1748+23G>C)
n.2782+23G>C
c.1961+23G>C (n.1961+23G>C)
n.2776+23G>C
 gnomAD v4
Xg.53248698C>TCA10419936IQSEC2c.2618+23G>A (n.2618+23G>A)
c.411+23G>A
c.2459+23G>A (n.2459+23G>A)
c.2429+23G>A (n.2429+23G>A)
c.1844+23G>A (n.1844+23G>A)
c.2555+23G>A (n.2555+23G>A)
c.1781+23G>A (n.1781+23G>A)
c.1748+23G>A (n.1748+23G>A)
n.2782+23G>A
c.1961+23G>A (n.1961+23G>A)
n.2776+23G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53248699T>CCA2579614712IQSEC2c.2618+22A>G (n.2618+22A>G)
c.411+22A>G
c.2459+22A>G (n.2459+22A>G)
c.2429+22A>G (n.2429+22A>G)
c.1844+22A>G (n.1844+22A>G)
c.2555+22A>G (n.2555+22A>G)
c.1781+22A>G (n.1781+22A>G)
c.1748+22A>G (n.1748+22A>G)
n.2782+22A>G
c.1961+22A>G (n.1961+22A>G)
n.2776+22A>G
 gnomAD v4
Xg.53248700G>ACA2695233925IQSEC2c.2618+21C>T (n.2618+21C>T)
c.411+21C>T
c.2459+21C>T (n.2459+21C>T)
c.2429+21C>T (n.2429+21C>T)
c.1844+21C>T (n.1844+21C>T)
c.2555+21C>T (n.2555+21C>T)
c.1781+21C>T (n.1781+21C>T)
c.1748+21C>T (n.1748+21C>T)
n.2782+21C>T
c.1961+21C>T (n.1961+21C>T)
n.2776+21C>T
Xg.53248700G=CA2429775058IQSEC2c.2618+21C= (n.2618+21C=)
c.411+21C=
c.2459+21C= (n.2459+21C=)
c.2429+21C= (n.2429+21C=)
c.1844+21C= (n.1844+21C=)
c.2555+21C= (n.2555+21C=)
c.1781+21C= (n.1781+21C=)
c.1748+21C= (n.1748+21C=)
n.2782+21C=
c.1961+21C= (n.1961+21C=)
n.2776+21C=
Xg.53248700G>TCA10419937IQSEC2c.2618+21C>A (n.2618+21C>A)
c.411+21C>A
c.2459+21C>A (n.2459+21C>A)
c.2429+21C>A (n.2429+21C>A)
c.1844+21C>A (n.1844+21C>A)
c.2555+21C>A (n.2555+21C>A)
c.1781+21C>A (n.1781+21C>A)
c.1748+21C>A (n.1748+21C>A)
n.2782+21C>A
c.1961+21C>A (n.1961+21C>A)
n.2776+21C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53248701C>TCA2579614714IQSEC2c.2618+20G>A (n.2618+20G>A)
c.411+20G>A
c.2459+20G>A (n.2459+20G>A)
c.2429+20G>A (n.2429+20G>A)
c.1844+20G>A (n.1844+20G>A)
c.2555+20G>A (n.2555+20G>A)
c.1781+20G>A (n.1781+20G>A)
c.1748+20G>A (n.1748+20G>A)
n.2782+20G>A
c.1961+20G>A (n.1961+20G>A)
n.2776+20G>A
 gnomAD v4
Xg.53248704delCA2693789971IQSEC2c.2618+20del (n.2618+20del)
c.411+20del
c.2459+20del (n.2459+20del)
c.2429+20del (n.2429+20del)
c.1844+20del (n.1844+20del)
c.2555+20del (n.2555+20del)
c.1781+20del (n.1781+20del)
c.1748+20del (n.1748+20del)
n.2782+20del
c.1961+20del (n.1961+20del)
n.2776+20del
 gnomAD v4
Xg.53248702C=CA2429775059IQSEC2c.2618+19G= (n.2618+19G=)
c.411+19G=
c.2459+19G= (n.2459+19G=)
c.2429+19G= (n.2429+19G=)
c.1844+19G= (n.1844+19G=)
c.2555+19G= (n.2555+19G=)
c.1781+19G= (n.1781+19G=)
c.1748+19G= (n.1748+19G=)
n.2782+19G=
c.1961+19G= (n.1961+19G=)
n.2776+19G=
Xg.53248702C>TCA16609192IQSEC2c.2618+19G>A (n.2618+19G>A)
c.411+19G>A
c.2459+19G>A (n.2459+19G>A)
c.2429+19G>A (n.2429+19G>A)
c.1844+19G>A (n.1844+19G>A)
c.2555+19G>A (n.2555+19G>A)
c.1781+19G>A (n.1781+19G>A)
c.1748+19G>A (n.1748+19G>A)
n.2782+19G>A
c.1961+19G>A (n.1961+19G>A)
n.2776+19G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.53248703C>ACA2839074827IQSEC2c.2618+18G>T (n.2618+18G>T)
c.411+18G>T
c.2459+18G>T (n.2459+18G>T)
c.2429+18G>T (n.2429+18G>T)
c.1844+18G>T (n.1844+18G>T)
c.2555+18G>T (n.2555+18G>T)
c.1781+18G>T (n.1781+18G>T)
c.1748+18G>T (n.1748+18G>T)
n.2782+18G>T
c.1961+18G>T (n.1961+18G>T)
n.2776+18G>T
Xg.53248703C>GCA2594831572IQSEC2c.2618+18G>C (n.2618+18G>C)
c.411+18G>C
c.2459+18G>C (n.2459+18G>C)
c.2429+18G>C (n.2429+18G>C)
c.1844+18G>C (n.1844+18G>C)
c.2555+18G>C (n.2555+18G>C)
c.1781+18G>C (n.1781+18G>C)
c.1748+18G>C (n.1748+18G>C)
n.2782+18G>C
c.1961+18G>C (n.1961+18G>C)
n.2776+18G>C
 gnomAD v3 gnomAD v4
Xg.53248705A=CA2429775060IQSEC2c.2618+16T= (n.2618+16T=)
c.411+16T=
c.2459+16T= (n.2459+16T=)
c.2429+16T= (n.2429+16T=)
c.1844+16T= (n.1844+16T=)
c.2555+16T= (n.2555+16T=)
c.1781+16T= (n.1781+16T=)
c.1748+16T= (n.1748+16T=)
n.2782+16T=
c.1961+16T= (n.1961+16T=)
n.2776+16T=
Xg.53248705A>GCA641551556IQSEC2c.2618+16T>C (n.2618+16T>C)
c.411+16T>C
c.2459+16T>C (n.2459+16T>C)
c.2429+16T>C (n.2429+16T>C)
c.1844+16T>C (n.1844+16T>C)
c.2555+16T>C (n.2555+16T>C)
c.1781+16T>C (n.1781+16T>C)
c.1748+16T>C (n.1748+16T>C)
n.2782+16T>C
c.1961+16T>C (n.1961+16T>C)
n.2776+16T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.53248706T>GCA2547967303IQSEC2c.2618+15A>C (n.2618+15A>C)
c.411+15A>C
c.2459+15A>C (n.2459+15A>C)
c.2429+15A>C (n.2429+15A>C)
c.1844+15A>C (n.1844+15A>C)
c.2555+15A>C (n.2555+15A>C)
c.1781+15A>C (n.1781+15A>C)
c.1748+15A>C (n.1748+15A>C)
n.2782+15A>C
c.1961+15A>C (n.1961+15A>C)
n.2776+15A>C
Xg.53248707C>ACA2843560941IQSEC2c.2618+14G>T (n.2618+14G>T)
c.411+14G>T
c.2459+14G>T (n.2459+14G>T)
c.2429+14G>T (n.2429+14G>T)
c.1844+14G>T (n.1844+14G>T)
c.2555+14G>T (n.2555+14G>T)
c.1781+14G>T (n.1781+14G>T)
c.1748+14G>T (n.1748+14G>T)
n.2782+14G>T
c.1961+14G>T (n.1961+14G>T)
n.2776+14G>T
Xg.53248708C=CA2429775061IQSEC2c.2618+13G= (n.2618+13G=)
c.411+13G=
c.2459+13G= (n.2459+13G=)
c.2429+13G= (n.2429+13G=)
c.1844+13G= (n.1844+13G=)
c.2555+13G= (n.2555+13G=)
c.1781+13G= (n.1781+13G=)
c.1748+13G= (n.1748+13G=)
n.2782+13G=
c.1961+13G= (n.1961+13G=)
n.2776+13G=
Xg.53248708C>GCA329165695IQSEC2c.2618+13G>C (n.2618+13G>C)
c.411+13G>C
c.2459+13G>C (n.2459+13G>C)
c.2429+13G>C (n.2429+13G>C)
c.1844+13G>C (n.1844+13G>C)
c.2555+13G>C (n.2555+13G>C)
c.1781+13G>C (n.1781+13G>C)
c.1748+13G>C (n.1748+13G>C)
n.2782+13G>C
c.1961+13G>C (n.1961+13G>C)
n.2776+13G>C
 dbSNP
Xg.53248710G>ACA2839054026IQSEC2c.2618+11C>T (n.2618+11C>T)
c.411+11C>T
c.2459+11C>T (n.2459+11C>T)
c.2429+11C>T (n.2429+11C>T)
c.1844+11C>T (n.1844+11C>T)
c.2555+11C>T (n.2555+11C>T)
c.1781+11C>T (n.1781+11C>T)
c.1748+11C>T (n.1748+11C>T)
n.2782+11C>T
c.1961+11C>T (n.1961+11C>T)
n.2776+11C>T
Xg.53248713dupCA2843560942IQSEC2c.2618+11dup (n.2618+11dup)
c.411+11dup
c.2459+11dup (n.2459+11dup)
c.2429+11dup (n.2429+11dup)
c.1844+11dup (n.1844+11dup)
c.2555+11dup (n.2555+11dup)
c.1781+11dup (n.1781+11dup)
c.1748+11dup (n.1748+11dup)
n.2782+11dup
c.1961+11dup (n.1961+11dup)
n.2776+11dup
Xg.53248713delCA2579614715IQSEC2c.2618+11del (n.2618+11del)
c.411+11del
c.2459+11del (n.2459+11del)
c.2429+11del (n.2429+11del)
c.1844+11del (n.1844+11del)
c.2555+11del (n.2555+11del)
c.1781+11del (n.1781+11del)
c.1748+11del (n.1748+11del)
n.2782+11del
c.1961+11del (n.1961+11del)
n.2776+11del
Xg.53248713G>ACA876276118IQSEC2c.2618+8C>T (n.2618+8C>T)
c.411+8C>T
c.2459+8C>T (n.2459+8C>T)
c.2429+8C>T (n.2429+8C>T)
c.1844+8C>T (n.1844+8C>T)
c.2555+8C>T (n.2555+8C>T)
c.1781+8C>T (n.1781+8C>T)
c.1748+8C>T (n.1748+8C>T)
n.2782+8C>T
c.1961+8C>T (n.1961+8C>T)
n.2776+8C>T
 dbSNP gnomAD v3 gnomAD v4
Xg.53248713G=CA2429775062IQSEC2c.2618+8C= (n.2618+8C=)
c.411+8C=
c.2459+8C= (n.2459+8C=)
c.2429+8C= (n.2429+8C=)
c.1844+8C= (n.1844+8C=)
c.2555+8C= (n.2555+8C=)
c.1781+8C= (n.1781+8C=)
c.1748+8C= (n.1748+8C=)
n.2782+8C=
c.1961+8C= (n.1961+8C=)
n.2776+8C=
Xg.53248713G>TCA645609632IQSEC2c.2618+8C>A (n.2618+8C>A)
c.411+8C>A
c.2459+8C>A (n.2459+8C>A)
c.2429+8C>A (n.2429+8C>A)
c.1844+8C>A (n.1844+8C>A)
c.2555+8C>A (n.2555+8C>A)
c.1781+8C>A (n.1781+8C>A)
c.1748+8C>A (n.1748+8C>A)
n.2782+8C>A
c.1961+8C>A (n.1961+8C>A)
n.2776+8C>A
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
Xg.53248715C=CA2429775063IQSEC2c.2618+6G= (n.2618+6G=)
c.411+6G=
c.2459+6G= (n.2459+6G=)
c.2429+6G= (n.2429+6G=)
c.1844+6G= (n.1844+6G=)
c.2555+6G= (n.2555+6G=)
c.1781+6G= (n.1781+6G=)
c.1748+6G= (n.1748+6G=)
n.2782+6G=
c.1961+6G= (n.1961+6G=)
n.2776+6G=
Xg.53248715C>TCA10419938IQSEC2c.2618+6G>A (n.2618+6G>A)
c.411+6G>A
c.2459+6G>A (n.2459+6G>A)
c.2429+6G>A (n.2429+6G>A)
c.1844+6G>A (n.1844+6G>A)
c.2555+6G>A (n.2555+6G>A)
c.1781+6G>A (n.1781+6G>A)
c.1748+6G>A (n.1748+6G>A)
n.2782+6G>A
c.1961+6G>A (n.1961+6G>A)
n.2776+6G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53248718C=CA2429775064IQSEC2c.2618+3G= (n.2618+3G=)
c.411+3G=
c.2459+3G= (n.2459+3G=)
c.2429+3G= (n.2429+3G=)
c.1844+3G= (n.1844+3G=)
c.2555+3G= (n.2555+3G=)
c.1781+3G= (n.1781+3G=)
c.1748+3G= (n.1748+3G=)
n.2782+3G=
c.1961+3G= (n.1961+3G=)
n.2776+3G=
Xg.53248718C>TCA641551557IQSEC2c.2618+3G>A (n.2618+3G>A)
c.411+3G>A
c.2459+3G>A (n.2459+3G>A)
c.2429+3G>A (n.2429+3G>A)
c.1844+3G>A (n.1844+3G>A)
c.2555+3G>A (n.2555+3G>A)
c.1781+3G>A (n.1781+3G>A)
c.1748+3G>A (n.1748+3G>A)
n.2782+3G>A
c.1961+3G>A (n.1961+3G>A)
n.2776+3G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53248719A>CCA413157607IQSEC2c.2618+2T>G (n.2618+2T>G)
c.411+2T>G
c.2459+2T>G (n.2459+2T>G)
c.2429+2T>G (n.2429+2T>G)
c.1844+2T>G (n.1844+2T>G)
c.2555+2T>G (n.2555+2T>G)
c.1781+2T>G (n.1781+2T>G)
c.1748+2T>G (n.1748+2T>G)
n.2782+2T>G
c.1961+2T>G (n.1961+2T>G)
n.2776+2T>G
Xg.53248719A>GCA413157611IQSEC2c.2618+2T>C (n.2618+2T>C)
c.411+2T>C
c.2459+2T>C (n.2459+2T>C)
c.2429+2T>C (n.2429+2T>C)
c.1844+2T>C (n.1844+2T>C)
c.2555+2T>C (n.2555+2T>C)
c.1781+2T>C (n.1781+2T>C)
c.1748+2T>C (n.1748+2T>C)
n.2782+2T>C
c.1961+2T>C (n.1961+2T>C)
n.2776+2T>C
Xg.53248719A>TCA413157614IQSEC2c.2618+2T>A (n.2618+2T>A)
c.411+2T>A
c.2459+2T>A (n.2459+2T>A)
c.2429+2T>A (n.2429+2T>A)
c.1844+2T>A (n.1844+2T>A)
c.2555+2T>A (n.2555+2T>A)
c.1781+2T>A (n.1781+2T>A)
c.1748+2T>A (n.1748+2T>A)
n.2782+2T>A
c.1961+2T>A (n.1961+2T>A)
n.2776+2T>A
Xg.53248720C>ACA413157619IQSEC2c.2618+1G>T (n.2618+1G>T)
c.411+1G>T
c.2459+1G>T (n.2459+1G>T)
c.2429+1G>T (n.2429+1G>T)
c.1844+1G>T (n.1844+1G>T)
c.2555+1G>T (n.2555+1G>T)
c.1781+1G>T (n.1781+1G>T)
c.1748+1G>T (n.1748+1G>T)
n.2782+1G>T
c.1961+1G>T (n.1961+1G>T)
n.2776+1G>T
Xg.53248720C>GCA413157622IQSEC2c.2618+1G>C (n.2618+1G>C)
c.411+1G>C
c.2459+1G>C (n.2459+1G>C)
c.2429+1G>C (n.2429+1G>C)
c.1844+1G>C (n.1844+1G>C)
c.2555+1G>C (n.2555+1G>C)
c.1781+1G>C (n.1781+1G>C)
c.1748+1G>C (n.1748+1G>C)
n.2782+1G>C
c.1961+1G>C (n.1961+1G>C)
n.2776+1G>C
Xg.53248720C>TCA413157625IQSEC2c.2618+1G>A (n.2618+1G>A)
c.411+1G>A
c.2459+1G>A (n.2459+1G>A)
c.2429+1G>A (n.2429+1G>A)
c.1844+1G>A (n.1844+1G>A)
c.2555+1G>A (n.2555+1G>A)
c.1781+1G>A (n.1781+1G>A)
c.1748+1G>A (n.1748+1G>A)
n.2782+1G>A
c.1961+1G>A (n.1961+1G>A)
n.2776+1G>A
Xg.53248721T>ACA413157629IQSEC2c.2618A>T (p.Asp873Val)
c.411A>T
c.2459A>T (p.Asp820Val)
c.2429A>T (p.Asp810Val)
c.1844A>T (p.Asp615Val)
c.2555A>T (p.Asp852Val)
c.1781A>T (p.Asp594Val)
c.1748A>T (p.Asp583Val)
n.2782A>T
c.1961A>T (p.Asp654Val)
n.2776A>T
Xg.53248721T>CCA413157632IQSEC2c.2618A>G (p.Asp873Gly)
c.411A>G
c.2459A>G (p.Asp820Gly)
c.2429A>G (p.Asp810Gly)
c.1844A>G (p.Asp615Gly)
c.2555A>G (p.Asp852Gly)
c.1781A>G (p.Asp594Gly)
c.1748A>G (p.Asp583Gly)
n.2782A>G
c.1961A>G (p.Asp654Gly)
n.2776A>G
Xg.53248721T>GCA413157635IQSEC2c.2618A>C (p.Asp873Ala)
c.411A>C
c.2459A>C (p.Asp820Ala)
c.2429A>C (p.Asp810Ala)
c.1844A>C (p.Asp615Ala)
c.2555A>C (p.Asp852Ala)
c.1781A>C (p.Asp594Ala)
c.1748A>C (p.Asp583Ala)
n.2782A>C
c.1961A>C (p.Asp654Ala)
n.2776A>C
Xg.53248722C>ACA413157645IQSEC2c.2617G>T (p.Asp873Tyr)
c.410G>T
c.2458G>T (p.Asp820Tyr)
c.2428G>T (p.Asp810Tyr)
c.1843G>T (p.Asp615Tyr)
c.2554G>T (p.Asp852Tyr)
c.1780G>T (p.Asp594Tyr)
c.1747G>T (p.Asp583Tyr)
n.2781G>T
c.1960G>T (p.Asp654Tyr)
n.2775G>T
Xg.53248722C>GCA413157639IQSEC2c.2617G>C (p.Asp873His)
c.410G>C
c.2458G>C (p.Asp820His)
c.2428G>C (p.Asp810His)
c.1843G>C (p.Asp615His)
c.2554G>C (p.Asp852His)
c.1780G>C (p.Asp594His)
c.1747G>C (p.Asp583His)
n.2781G>C
c.1960G>C (p.Asp654His)
n.2775G>C
Xg.53248722C>TCA413157642IQSEC2c.2617G>A (p.Asp873Asn)
c.410G>A
c.2458G>A (p.Asp820Asn)
c.2428G>A (p.Asp810Asn)
c.1843G>A (p.Asp615Asn)
c.2554G>A (p.Asp852Asn)
c.1780G>A (p.Asp594Asn)
c.1747G>A (p.Asp583Asn)
n.2781G>A
c.1960G>A (p.Asp654Asn)
n.2775G>A
Xg.53248723C>ACA413157649IQSEC2c.2616G>T (p.Leu872Phe)
c.409G>T
c.2457G>T (p.Leu819Phe)
c.2427G>T (p.Leu809Phe)
c.1842G>T (p.Leu614Phe)
c.2553G>T (p.Leu851Phe)
c.1779G>T (p.Leu593Phe)
c.1746G>T (p.Leu582Phe)
n.2780G>T
c.1959G>T (p.Leu653Phe)
n.2774G>T
Xg.53248723C=CA2429775065IQSEC2c.2616G= (p.Leu872=)
c.409G=
c.2457G= (p.Leu819=)
c.2427G= (p.Leu809=)
c.1842G= (p.Leu614=)
c.2553G= (p.Leu851=)
c.1779G= (p.Leu593=)
c.1746G= (p.Leu582=)
n.2780G=
c.1959G= (p.Leu653=)
n.2774G=
Xg.53248723C>GCA413157652IQSEC2c.2616G>C (p.Leu872Phe)
c.409G>C
c.2457G>C (p.Leu819Phe)
c.2427G>C (p.Leu809Phe)
c.1842G>C (p.Leu614Phe)
c.2553G>C (p.Leu851Phe)
c.1779G>C (p.Leu593Phe)
c.1746G>C (p.Leu582Phe)
n.2780G>C
c.1959G>C (p.Leu653Phe)
n.2774G>C
Xg.53248723C>TCA516428560IQSEC2c.2616G>A (p.Leu872=)
c.409G>A
c.2457G>A (p.Leu819=)
c.2427G>A (p.Leu809=)
c.1842G>A (p.Leu614=)
c.2553G>A (p.Leu851=)
c.1779G>A (p.Leu593=)
c.1746G>A (p.Leu582=)
n.2780G>A
c.1959G>A (p.Leu653=)
n.2774G>A
 dbSNP
Xg.53248724A>CCA413157654IQSEC2c.2615T>G (p.Leu872Trp)
c.408T>G
c.2456T>G (p.Leu819Trp)
c.2426T>G (p.Leu809Trp)
c.1841T>G (p.Leu614Trp)
c.2552T>G (p.Leu851Trp)
c.1778T>G (p.Leu593Trp)
c.1745T>G (p.Leu582Trp)
n.2779T>G
c.1958T>G (p.Leu653Trp)
n.2773T>G
Xg.53248724A>GCA413157655IQSEC2c.2615T>C (p.Leu872Ser)
c.408T>C
c.2456T>C (p.Leu819Ser)
c.2426T>C (p.Leu809Ser)
c.1841T>C (p.Leu614Ser)
c.2552T>C (p.Leu851Ser)
c.1778T>C (p.Leu593Ser)
c.1745T>C (p.Leu582Ser)
n.2779T>C
c.1958T>C (p.Leu653Ser)
n.2773T>C
Xg.53248724A>TCA413157658IQSEC2c.2615T>A (p.Leu872Ter)
c.408T>A
c.2456T>A (p.Leu819Ter)
c.2426T>A (p.Leu809Ter)
c.1841T>A (p.Leu614Ter)
c.2552T>A (p.Leu851Ter)
c.1778T>A (p.Leu593Ter)
c.1745T>A (p.Leu582Ter)
n.2779T>A
c.1958T>A (p.Leu653Ter)
n.2773T>A
Xg.53248725A=CA2429775066IQSEC2c.2614T= (p.Leu872=)
c.407T=
c.2455T= (p.Leu819=)
c.2425T= (p.Leu809=)
c.1840T= (p.Leu614=)
c.2551T= (p.Leu851=)
c.1777T= (p.Leu593=)
c.1744T= (p.Leu582=)
n.2778T=
c.1957T= (p.Leu653=)
n.2772T=
Xg.53248725A>CCA413157661IQSEC2c.2614T>G (p.Leu872Val)
c.407T>G
c.2455T>G (p.Leu819Val)
c.2425T>G (p.Leu809Val)
c.1840T>G (p.Leu614Val)
c.2551T>G (p.Leu851Val)
c.1777T>G (p.Leu593Val)
c.1744T>G (p.Leu582Val)
n.2778T>G
c.1957T>G (p.Leu653Val)
n.2772T>G
Xg.53248725A>GCA516428563IQSEC2c.2614T>C (p.Leu872=)
c.407T>C
c.2455T>C (p.Leu819=)
c.2425T>C (p.Leu809=)
c.1840T>C (p.Leu614=)
c.2551T>C (p.Leu851=)
c.1777T>C (p.Leu593=)
c.1744T>C (p.Leu582=)
n.2778T>C
c.1957T>C (p.Leu653=)
n.2772T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.53248725A>TCA413157664IQSEC2c.2614T>A (p.Leu872Met)
c.407T>A
c.2455T>A (p.Leu819Met)
c.2425T>A (p.Leu809Met)
c.1840T>A (p.Leu614Met)
c.2551T>A (p.Leu851Met)
c.1777T>A (p.Leu593Met)
c.1744T>A (p.Leu582Met)
n.2778T>A
c.1957T>A (p.Leu653Met)
n.2772T>A
Xg.53248726C>ACA516428568IQSEC2c.2613G>T (p.Val871=)
c.406G>T
c.2454G>T (p.Val818=)
c.2424G>T (p.Val808=)
c.1839G>T (p.Val613=)
c.2550G>T (p.Val850=)
c.1776G>T (p.Val592=)
c.1743G>T (p.Val581=)
n.2777G>T
c.1956G>T (p.Val652=)
n.2771G>T
Xg.53248726C>GCA516428571IQSEC2c.2613G>C (p.Val871=)
c.406G>C
c.2454G>C (p.Val818=)
c.2424G>C (p.Val808=)
c.1839G>C (p.Val613=)
c.2550G>C (p.Val850=)
c.1776G>C (p.Val592=)
c.1743G>C (p.Val581=)
n.2777G>C
c.1956G>C (p.Val652=)
n.2771G>C
Xg.53248726C>TCA516428573IQSEC2c.2613G>A (p.Val871=)
c.406G>A
c.2454G>A (p.Val818=)
c.2424G>A (p.Val808=)
c.1839G>A (p.Val613=)
c.2550G>A (p.Val850=)
c.1776G>A (p.Val592=)
c.1743G>A (p.Val581=)
n.2777G>A
c.1956G>A (p.Val652=)
n.2771G>A
Xg.53248727A>CCA413157668IQSEC2c.2612T>G (p.Val871Gly)
c.405T>G
c.2453T>G (p.Val818Gly)
c.2423T>G (p.Val808Gly)
c.1838T>G (p.Val613Gly)
c.2549T>G (p.Val850Gly)
c.1775T>G (p.Val592Gly)
c.1742T>G (p.Val581Gly)
n.2776T>G
c.1955T>G (p.Val652Gly)
n.2770T>G
Xg.53248727A>GCA413157670IQSEC2c.2612T>C (p.Val871Ala)
c.405T>C
c.2453T>C (p.Val818Ala)
c.2423T>C (p.Val808Ala)
c.1838T>C (p.Val613Ala)
c.2549T>C (p.Val850Ala)
c.1775T>C (p.Val592Ala)
c.1742T>C (p.Val581Ala)
n.2776T>C
c.1955T>C (p.Val652Ala)
n.2770T>C
Xg.53248727A>TCA413157674IQSEC2c.2612T>A (p.Val871Glu)
c.405T>A
c.2453T>A (p.Val818Glu)
c.2423T>A (p.Val808Glu)
c.1838T>A (p.Val613Glu)
c.2549T>A (p.Val850Glu)
c.1775T>A (p.Val592Glu)
c.1742T>A (p.Val581Glu)
n.2776T>A
c.1955T>A (p.Val652Glu)
n.2770T>A
Xg.53248728C>ACA413157679IQSEC2c.2611G>T (p.Val871Leu)
c.404G>T
c.2452G>T (p.Val818Leu)
c.2422G>T (p.Val808Leu)
c.1837G>T (p.Val613Leu)
c.2548G>T (p.Val850Leu)
c.1774G>T (p.Val592Leu)
c.1741G>T (p.Val581Leu)
n.2775G>T
c.1954G>T (p.Val652Leu)
n.2769G>T
Xg.53248728C=CA2429775067IQSEC2c.2611G= (p.Val871=)
c.404G=
c.2452G= (p.Val818=)
c.2422G= (p.Val808=)
c.1837G= (p.Val613=)
c.2548G= (p.Val850=)
c.1774G= (p.Val592=)
c.1741G= (p.Val581=)
n.2775G=
c.1954G= (p.Val652=)
n.2769G=
Xg.53248728C>GCA413157680IQSEC2c.2611G>C (p.Val871Leu)
c.404G>C
c.2452G>C (p.Val818Leu)
c.2422G>C (p.Val808Leu)
c.1837G>C (p.Val613Leu)
c.2548G>C (p.Val850Leu)
c.1774G>C (p.Val592Leu)
c.1741G>C (p.Val581Leu)
n.2775G>C
c.1954G>C (p.Val652Leu)
n.2769G>C
Xg.53248728C>TCA413157683IQSEC2c.2611G>A (p.Val871Met)
c.404G>A
c.2452G>A (p.Val818Met)
c.2422G>A (p.Val808Met)
c.1837G>A (p.Val613Met)
c.2548G>A (p.Val850Met)
c.1774G>A (p.Val592Met)
c.1741G>A (p.Val581Met)
n.2775G>A
c.1954G>A (p.Val652Met)
n.2769G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53248729G>ACA10419939IQSEC2c.2610C>T (p.Asp870=)
c.403C>T
c.2451C>T (p.Asp817=)
c.2421C>T (p.Asp807=)
c.1836C>T (p.Asp612=)
c.2547C>T (p.Asp849=)
c.1773C>T (p.Asp591=)
c.1740C>T (p.Asp580=)
n.2774C>T
c.1953C>T (p.Asp651=)
n.2768C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53248729G>CCA413157691IQSEC2c.2610C>G (p.Asp870Glu)
c.403C>G
c.2451C>G (p.Asp817Glu)
c.2421C>G (p.Asp807Glu)
c.1836C>G (p.Asp612Glu)
c.2547C>G (p.Asp849Glu)
c.1773C>G (p.Asp591Glu)
c.1740C>G (p.Asp580Glu)
n.2774C>G
c.1953C>G (p.Asp651Glu)
n.2768C>G
Xg.53248729G=CA2429775068IQSEC2c.2610C= (p.Asp870=)
c.403C=
c.2451C= (p.Asp817=)
c.2421C= (p.Asp807=)
c.1836C= (p.Asp612=)
c.2547C= (p.Asp849=)
c.1773C= (p.Asp591=)
c.1740C= (p.Asp580=)
n.2774C=
c.1953C= (p.Asp651=)
n.2768C=
Xg.53248729G>TCA413157687IQSEC2c.2610C>A (p.Asp870Glu)
c.403C>A
c.2451C>A (p.Asp817Glu)
c.2421C>A (p.Asp807Glu)
c.1836C>A (p.Asp612Glu)
c.2547C>A (p.Asp849Glu)
c.1773C>A (p.Asp591Glu)
c.1740C>A (p.Asp580Glu)
n.2774C>A
c.1953C>A (p.Asp651Glu)
n.2768C>A
Xg.53248730T>ACA413157701IQSEC2c.2609A>T (p.Asp870Val)
c.402A>T
c.2450A>T (p.Asp817Val)
c.2420A>T (p.Asp807Val)
c.1835A>T (p.Asp612Val)
c.2546A>T (p.Asp849Val)
c.1772A>T (p.Asp591Val)
c.1739A>T (p.Asp580Val)
n.2773A>T
c.1952A>T (p.Asp651Val)
n.2767A>T
Xg.53248730T>CCA413157696IQSEC2c.2609A>G (p.Asp870Gly)
c.402A>G
c.2450A>G (p.Asp817Gly)
c.2420A>G (p.Asp807Gly)
c.1835A>G (p.Asp612Gly)
c.2546A>G (p.Asp849Gly)
c.1772A>G (p.Asp591Gly)
c.1739A>G (p.Asp580Gly)
n.2773A>G
c.1952A>G (p.Asp651Gly)
n.2767A>G
Xg.53248730T>GCA413157703IQSEC2c.2609A>C (p.Asp870Ala)
c.402A>C
c.2450A>C (p.Asp817Ala)
c.2420A>C (p.Asp807Ala)
c.1835A>C (p.Asp612Ala)
c.2546A>C (p.Asp849Ala)
c.1772A>C (p.Asp591Ala)
c.1739A>C (p.Asp580Ala)
n.2773A>C
c.1952A>C (p.Asp651Ala)
n.2767A>C
Xg.53248733_53248734delCA2739290488IQSEC2c.2608_2609del (p.Asp870ArgfsTer8)
c.401_402del
c.2449_2450del (p.Asp817ArgfsTer8)
c.2419_2420del (p.Asp807ArgfsTer8)
c.1834_1835del (p.Asp612ArgfsTer8)
c.2545_2546del (p.Asp849ArgfsTer8)
c.1771_1772del (p.Asp591ArgfsTer8)
c.1738_1739del (p.Asp580ArgfsTer8)
n.2772_2773del
c.1951_1952del (p.Asp651ArgfsTer8)
n.2766_2767del
Xg.53248731C>ACA413157707IQSEC2c.2608G>T (p.Asp870Tyr)
c.401G>T
c.2449G>T (p.Asp817Tyr)
c.2419G>T (p.Asp807Tyr)
c.1834G>T (p.Asp612Tyr)
c.2545G>T (p.Asp849Tyr)
c.1771G>T (p.Asp591Tyr)
c.1738G>T (p.Asp580Tyr)
n.2772G>T
c.1951G>T (p.Asp651Tyr)
n.2766G>T
Xg.53248731C>GCA413157710IQSEC2c.2608G>C (p.Asp870His)
c.401G>C
c.2449G>C (p.Asp817His)
c.2419G>C (p.Asp807His)
c.1834G>C (p.Asp612His)
c.2545G>C (p.Asp849His)
c.1771G>C (p.Asp591His)
c.1738G>C (p.Asp580His)
n.2772G>C
c.1951G>C (p.Asp651His)
n.2766G>C
Xg.53248731C>TCA413157713IQSEC2c.2608G>A (p.Asp870Asn)
c.401G>A
c.2449G>A (p.Asp817Asn)
c.2419G>A (p.Asp807Asn)
c.1834G>A (p.Asp612Asn)
c.2545G>A (p.Asp849Asn)
c.1771G>A (p.Asp591Asn)
c.1738G>A (p.Asp580Asn)
n.2772G>A
c.1951G>A (p.Asp651Asn)
n.2766G>A
Xg.53248732T>ACA413157716IQSEC2c.2607A>T (p.Arg869Ser)
c.400A>T
c.2448A>T (p.Arg816Ser)
c.2418A>T (p.Arg806Ser)
c.1833A>T (p.Arg611Ser)
c.2544A>T (p.Arg848Ser)
c.1770A>T (p.Arg590Ser)
c.1737A>T (p.Arg579Ser)
n.2771A>T
c.1950A>T (p.Arg650Ser)
n.2765A>T
Xg.53248732T>CCA516428593IQSEC2c.2607A>G (p.Arg869=)
c.400A>G
c.2448A>G (p.Arg816=)
c.2418A>G (p.Arg806=)
c.1833A>G (p.Arg611=)
c.2544A>G (p.Arg848=)
c.1770A>G (p.Arg590=)
c.1737A>G (p.Arg579=)
n.2771A>G
c.1950A>G (p.Arg650=)
n.2765A>G
Xg.53248732T>GCA413157720IQSEC2c.2607A>C (p.Arg869Ser)
c.400A>C
c.2448A>C (p.Arg816Ser)
c.2418A>C (p.Arg806Ser)
c.1833A>C (p.Arg611Ser)
c.2544A>C (p.Arg848Ser)
c.1770A>C (p.Arg590Ser)
c.1737A>C (p.Arg579Ser)
n.2771A>C
c.1950A>C (p.Arg650Ser)
n.2765A>C
Xg.53248733C>ACA413157725IQSEC2c.2606G>T (p.Arg869Ile)
c.399G>T
c.2447G>T (p.Arg816Ile)
c.2417G>T (p.Arg806Ile)
c.1832G>T (p.Arg611Ile)
c.2543G>T (p.Arg848Ile)
c.1769G>T (p.Arg590Ile)
c.1736G>T (p.Arg579Ile)
n.2770G>T
c.1949G>T (p.Arg650Ile)
n.2764G>T
Xg.53248733C>GCA413157728IQSEC2c.2606G>C (p.Arg869Thr)
c.399G>C
c.2447G>C (p.Arg816Thr)
c.2417G>C (p.Arg806Thr)
c.1832G>C (p.Arg611Thr)
c.2543G>C (p.Arg848Thr)
c.1769G>C (p.Arg590Thr)
c.1736G>C (p.Arg579Thr)
n.2770G>C
c.1949G>C (p.Arg650Thr)
n.2764G>C
Xg.53248733C>TCA413157731IQSEC2c.2606G>A (p.Arg869Lys)
c.399G>A
c.2447G>A (p.Arg816Lys)
c.2417G>A (p.Arg806Lys)
c.1832G>A (p.Arg611Lys)
c.2543G>A (p.Arg848Lys)
c.1769G>A (p.Arg590Lys)
c.1736G>A (p.Arg579Lys)
n.2770G>A
c.1949G>A (p.Arg650Lys)
n.2764G>A
Xg.53248734T>ACA413157735IQSEC2c.2605A>T (p.Arg869Ter)
c.398A>T
c.2446A>T (p.Arg816Ter)
c.2416A>T (p.Arg806Ter)
c.1831A>T (p.Arg611Ter)
c.2542A>T (p.Arg848Ter)
c.1768A>T (p.Arg590Ter)
c.1735A>T (p.Arg579Ter)
n.2769A>T
c.1948A>T (p.Arg650Ter)
n.2763A>T
Xg.53248734T>CCA413157737IQSEC2c.2605A>G (p.Arg869Gly)
c.398A>G
c.2446A>G (p.Arg816Gly)
c.2416A>G (p.Arg806Gly)
c.1831A>G (p.Arg611Gly)
c.2542A>G (p.Arg848Gly)
c.1768A>G (p.Arg590Gly)
c.1735A>G (p.Arg579Gly)
n.2769A>G
c.1948A>G (p.Arg650Gly)
n.2763A>G
Xg.53248734T>GCA516428598IQSEC2c.2605A>C (p.Arg869=)
c.398A>C
c.2446A>C (p.Arg816=)
c.2416A>C (p.Arg806=)
c.1831A>C (p.Arg611=)
c.2542A>C (p.Arg848=)
c.1768A>C (p.Arg590=)
c.1735A>C (p.Arg579=)
n.2769A>C
c.1948A>C (p.Arg650=)
n.2763A>C
Xg.53248735G>ACA516428603IQSEC2c.2604C>T (p.Asn868=)
c.397C>T
c.2445C>T (p.Asn815=)
c.2415C>T (p.Asn805=)
c.1830C>T (p.Asn610=)
c.2541C>T (p.Asn847=)
c.1767C>T (p.Asn589=)
c.1734C>T (p.Asn578=)
n.2768C>T
c.1947C>T (p.Asn649=)
n.2762C>T
Xg.53248735G>CCA413157740IQSEC2c.2604C>G (p.Asn868Lys)
c.397C>G
c.2445C>G (p.Asn815Lys)
c.2415C>G (p.Asn805Lys)
c.1830C>G (p.Asn610Lys)
c.2541C>G (p.Asn847Lys)
c.1767C>G (p.Asn589Lys)
c.1734C>G (p.Asn578Lys)
n.2768C>G
c.1947C>G (p.Asn649Lys)
n.2762C>G
Xg.53248735G>TCA413157743IQSEC2c.2604C>A (p.Asn868Lys)
c.397C>A
c.2445C>A (p.Asn815Lys)
c.2415C>A (p.Asn805Lys)
c.1830C>A (p.Asn610Lys)
c.2541C>A (p.Asn847Lys)
c.1767C>A (p.Asn589Lys)
c.1734C>A (p.Asn578Lys)
n.2768C>A
c.1947C>A (p.Asn649Lys)
n.2762C>A
Xg.53248736T>ACA413157752IQSEC2c.2603A>T (p.Asn868Ile)
c.396A>T
c.2444A>T (p.Asn815Ile)
c.2414A>T (p.Asn805Ile)
c.1829A>T (p.Asn610Ile)
c.2540A>T (p.Asn847Ile)
c.1766A>T (p.Asn589Ile)
c.1733A>T (p.Asn578Ile)
n.2767A>T
c.1946A>T (p.Asn649Ile)
n.2761A>T
Xg.53248736T>CCA413157747IQSEC2c.2603A>G (p.Asn868Ser)
c.396A>G
c.2444A>G (p.Asn815Ser)
c.2414A>G (p.Asn805Ser)
c.1829A>G (p.Asn610Ser)
c.2540A>G (p.Asn847Ser)
c.1766A>G (p.Asn589Ser)
c.1733A>G (p.Asn578Ser)
n.2767A>G
c.1946A>G (p.Asn649Ser)
n.2761A>G
Xg.53248736T>GCA413157749IQSEC2c.2603A>C (p.Asn868Thr)
c.396A>C
c.2444A>C (p.Asn815Thr)
c.2414A>C (p.Asn805Thr)
c.1829A>C (p.Asn610Thr)
c.2540A>C (p.Asn847Thr)
c.1766A>C (p.Asn589Thr)
c.1733A>C (p.Asn578Thr)
n.2767A>C
c.1946A>C (p.Asn649Thr)
n.2761A>C
Xg.53248737T>ACA413157756IQSEC2c.2602A>T (p.Asn868Tyr)
c.395A>T
c.2443A>T (p.Asn815Tyr)
c.2413A>T (p.Asn805Tyr)
c.1828A>T (p.Asn610Tyr)
c.2539A>T (p.Asn847Tyr)
c.1765A>T (p.Asn589Tyr)
c.1732A>T (p.Asn578Tyr)
n.2766A>T
c.1945A>T (p.Asn649Tyr)
n.2760A>T
Xg.53248737T>CCA413157758IQSEC2c.2602A>G (p.Asn868Asp)
c.395A>G
c.2443A>G (p.Asn815Asp)
c.2413A>G (p.Asn805Asp)
c.1828A>G (p.Asn610Asp)
c.2539A>G (p.Asn847Asp)
c.1765A>G (p.Asn589Asp)
c.1732A>G (p.Asn578Asp)
n.2766A>G
c.1945A>G (p.Asn649Asp)
n.2760A>G
Xg.53248737T>GCA413157761IQSEC2c.2602A>C (p.Asn868His)
c.395A>C
c.2443A>C (p.Asn815His)
c.2413A>C (p.Asn805His)
c.1828A>C (p.Asn610His)
c.2539A>C (p.Asn847His)
c.1765A>C (p.Asn589His)
c.1732A>C (p.Asn578His)
n.2766A>C
c.1945A>C (p.Asn649His)
n.2760A>C
Xg.53248738G>ACA516428609IQSEC2c.2601C>T (p.Phe867=)
c.394C>T
c.2442C>T (p.Phe814=)
c.2412C>T (p.Phe804=)
c.1827C>T (p.Phe609=)
c.2538C>T (p.Phe846=)
c.1764C>T (p.Phe588=)
c.1731C>T (p.Phe577=)
n.2765C>T
c.1944C>T (p.Phe648=)
n.2759C>T
Xg.53248738G>CCA413157766IQSEC2c.2601C>G (p.Phe867Leu)
c.394C>G
c.2442C>G (p.Phe814Leu)
c.2412C>G (p.Phe804Leu)
c.1827C>G (p.Phe609Leu)
c.2538C>G (p.Phe846Leu)
c.1764C>G (p.Phe588Leu)
c.1731C>G (p.Phe577Leu)
n.2765C>G
c.1944C>G (p.Phe648Leu)
n.2759C>G
Xg.53248738G>TCA413157767IQSEC2c.2601C>A (p.Phe867Leu)
c.394C>A
c.2442C>A (p.Phe814Leu)
c.2412C>A (p.Phe804Leu)
c.1827C>A (p.Phe609Leu)
c.2538C>A (p.Phe846Leu)
c.1764C>A (p.Phe588Leu)
c.1731C>A (p.Phe577Leu)
n.2765C>A
c.1944C>A (p.Phe648Leu)
n.2759C>A
Xg.53248739A>CCA413157773IQSEC2c.2600T>G (p.Phe867Cys)
c.393T>G
c.2441T>G (p.Phe814Cys)
c.2411T>G (p.Phe804Cys)
c.1826T>G (p.Phe609Cys)
c.2537T>G (p.Phe846Cys)
c.1763T>G (p.Phe588Cys)
c.1730T>G (p.Phe577Cys)
n.2764T>G
c.1943T>G (p.Phe648Cys)
n.2758T>G
Xg.53248739A>GCA413157776IQSEC2c.2600T>C (p.Phe867Ser)
c.393T>C
c.2441T>C (p.Phe814Ser)
c.2411T>C (p.Phe804Ser)
c.1826T>C (p.Phe609Ser)
c.2537T>C (p.Phe846Ser)
c.1763T>C (p.Phe588Ser)
c.1730T>C (p.Phe577Ser)
n.2764T>C
c.1943T>C (p.Phe648Ser)
n.2758T>C
Xg.53248739A>TCA413157779IQSEC2c.2600T>A (p.Phe867Tyr)
c.393T>A
c.2441T>A (p.Phe814Tyr)
c.2411T>A (p.Phe804Tyr)
c.1826T>A (p.Phe609Tyr)
c.2537T>A (p.Phe846Tyr)
c.1763T>A (p.Phe588Tyr)
c.1730T>A (p.Phe577Tyr)
n.2764T>A
c.1943T>A (p.Phe648Tyr)
n.2758T>A
Xg.53248740A=CA2429775069IQSEC2c.2599T= (p.Phe867=)
c.392T=
c.2440T= (p.Phe814=)
c.2410T= (p.Phe804=)
c.1825T= (p.Phe609=)
c.2536T= (p.Phe846=)
c.1762T= (p.Phe588=)
c.1729T= (p.Phe577=)
n.2763T=
c.1942T= (p.Phe648=)
n.2757T=
Xg.53248740A>CCA413157784IQSEC2c.2599T>G (p.Phe867Val)
c.392T>G
c.2440T>G (p.Phe814Val)
c.2410T>G (p.Phe804Val)
c.1825T>G (p.Phe609Val)
c.2536T>G (p.Phe846Val)
c.1762T>G (p.Phe588Val)
c.1729T>G (p.Phe577Val)
n.2763T>G
c.1942T>G (p.Phe648Val)
n.2757T>G
Xg.53248740A>GCA10419940IQSEC2c.2599T>C (p.Phe867Leu)
c.392T>C
c.2440T>C (p.Phe814Leu)
c.2410T>C (p.Phe804Leu)
c.1825T>C (p.Phe609Leu)
c.2536T>C (p.Phe846Leu)
c.1762T>C (p.Phe588Leu)
c.1729T>C (p.Phe577Leu)
n.2763T>C
c.1942T>C (p.Phe648Leu)
n.2757T>C
 dbSNP ExAC gnomAD v2
Xg.53248740A>TCA413157787IQSEC2c.2599T>A (p.Phe867Ile)
c.392T>A
c.2440T>A (p.Phe814Ile)
c.2410T>A (p.Phe804Ile)
c.1825T>A (p.Phe609Ile)
c.2536T>A (p.Phe846Ile)
c.1762T>A (p.Phe588Ile)
c.1729T>A (p.Phe577Ile)
n.2763T>A
c.1942T>A (p.Phe648Ile)
n.2757T>A
Xg.53248741C>ACA413157796IQSEC2c.2598G>T (p.Gln866His)
c.391G>T
c.2439G>T (p.Gln813His)
c.2409G>T (p.Gln803His)
c.1824G>T (p.Gln608His)
c.2535G>T (p.Gln845His)
c.1761G>T (p.Gln587His)
c.1728G>T (p.Gln576His)
n.2762G>T
c.1941G>T (p.Gln647His)
n.2756G>T
Xg.53248741C>GCA413157792IQSEC2c.2598G>C (p.Gln866His)
c.391G>C
c.2439G>C (p.Gln813His)
c.2409G>C (p.Gln803His)
c.1824G>C (p.Gln608His)
c.2535G>C (p.Gln845His)
c.1761G>C (p.Gln587His)
c.1728G>C (p.Gln576His)
n.2762G>C
c.1941G>C (p.Gln647His)
n.2756G>C
Xg.53248741C>TCA516428619IQSEC2c.2598G>A (p.Gln866=)
c.391G>A
c.2439G>A (p.Gln813=)
c.2409G>A (p.Gln803=)
c.1824G>A (p.Gln608=)
c.2535G>A (p.Gln845=)
c.1761G>A (p.Gln587=)
c.1728G>A (p.Gln576=)
n.2762G>A
c.1941G>A (p.Gln647=)
n.2756G>A
 gnomAD v4
Xg.53248742T>ACA413157801IQSEC2c.2597A>T (p.Gln866Leu)
c.390A>T
c.2438A>T (p.Gln813Leu)
c.2408A>T (p.Gln803Leu)
c.1823A>T (p.Gln608Leu)
c.2534A>T (p.Gln845Leu)
c.1760A>T (p.Gln587Leu)
c.1727A>T (p.Gln576Leu)
n.2761A>T
c.1940A>T (p.Gln647Leu)
n.2755A>T
Xg.53248742T>CCA413157803IQSEC2c.2597A>G (p.Gln866Arg)
c.390A>G
c.2438A>G (p.Gln813Arg)
c.2408A>G (p.Gln803Arg)
c.1823A>G (p.Gln608Arg)
c.2534A>G (p.Gln845Arg)
c.1760A>G (p.Gln587Arg)
c.1727A>G (p.Gln576Arg)
n.2761A>G
c.1940A>G (p.Gln647Arg)
n.2755A>G
 gnomAD v4
Xg.53248742T>GCA413157806IQSEC2c.2597A>C (p.Gln866Pro)
c.390A>C
c.2438A>C (p.Gln813Pro)
c.2408A>C (p.Gln803Pro)
c.1823A>C (p.Gln608Pro)
c.2534A>C (p.Gln845Pro)
c.1760A>C (p.Gln587Pro)
c.1727A>C (p.Gln576Pro)
n.2761A>C
c.1940A>C (p.Gln647Pro)
n.2755A>C
Xg.53248743G>ACA413157809IQSEC2c.2596C>T (p.Gln866Ter)
c.389C>T
c.2437C>T (p.Gln813Ter)
c.2407C>T (p.Gln803Ter)
c.1822C>T (p.Gln608Ter)
c.2533C>T (p.Gln845Ter)
c.1759C>T (p.Gln587Ter)
c.1726C>T (p.Gln576Ter)
n.2760C>T
c.1939C>T (p.Gln647Ter)
n.2754C>T
Xg.53248743G>CCA413157811IQSEC2c.2596C>G (p.Gln866Glu)
c.389C>G
c.2437C>G (p.Gln813Glu)
c.2407C>G (p.Gln803Glu)
c.1822C>G (p.Gln608Glu)
c.2533C>G (p.Gln845Glu)
c.1759C>G (p.Gln587Glu)
c.1726C>G (p.Gln576Glu)
n.2760C>G
c.1939C>G (p.Gln647Glu)
n.2754C>G
Xg.53248743G>TCA413157813IQSEC2c.2596C>A (p.Gln866Lys)
c.389C>A
c.2437C>A (p.Gln813Lys)
c.2407C>A (p.Gln803Lys)
c.1822C>A (p.Gln608Lys)
c.2533C>A (p.Gln845Lys)
c.1759C>A (p.Gln587Lys)
c.1726C>A (p.Gln576Lys)
n.2760C>A
c.1939C>A (p.Gln647Lys)
n.2754C>A
Xg.53248744C>ACA413157815IQSEC2c.2595G>T (p.Lys865Asn)
c.388G>T
c.2436G>T (p.Lys812Asn)
c.2406G>T (p.Lys802Asn)
c.1821G>T (p.Lys607Asn)
c.2532G>T (p.Lys844Asn)
c.1758G>T (p.Lys586Asn)
c.1725G>T (p.Lys575Asn)
n.2759G>T
c.1938G>T (p.Lys646Asn)
n.2753G>T
Xg.53248744C>GCA413157817IQSEC2c.2595G>C (p.Lys865Asn)
c.388G>C
c.2436G>C (p.Lys812Asn)
c.2406G>C (p.Lys802Asn)
c.1821G>C (p.Lys607Asn)
c.2532G>C (p.Lys844Asn)
c.1758G>C (p.Lys586Asn)
c.1725G>C (p.Lys575Asn)
n.2759G>C
c.1938G>C (p.Lys646Asn)
n.2753G>C
Xg.53248744C>TCA516428630IQSEC2c.2595G>A (p.Lys865=)
c.388G>A
c.2436G>A (p.Lys812=)
c.2406G>A (p.Lys802=)
c.1821G>A (p.Lys607=)
c.2532G>A (p.Lys844=)
c.1758G>A (p.Lys586=)
c.1725G>A (p.Lys575=)
n.2759G>A
c.1938G>A (p.Lys646=)
n.2753G>A
Xg.53248745T>ACA413157819IQSEC2c.2594A>T (p.Lys865Met)
c.387A>T
c.2435A>T (p.Lys812Met)
c.2405A>T (p.Lys802Met)
c.1820A>T (p.Lys607Met)
c.2531A>T (p.Lys844Met)
c.1757A>T (p.Lys586Met)
c.1724A>T (p.Lys575Met)
n.2758A>T
c.1937A>T (p.Lys646Met)
n.2752A>T
Xg.53248745T>CCA413157821IQSEC2c.2594A>G (p.Lys865Arg)
c.387A>G
c.2435A>G (p.Lys812Arg)
c.2405A>G (p.Lys802Arg)
c.1820A>G (p.Lys607Arg)
c.2531A>G (p.Lys844Arg)
c.1757A>G (p.Lys586Arg)
c.1724A>G (p.Lys575Arg)
n.2758A>G
c.1937A>G (p.Lys646Arg)
n.2752A>G
Xg.53248745T>GCA413157823IQSEC2c.2594A>C (p.Lys865Thr)
c.387A>C
c.2435A>C (p.Lys812Thr)
c.2405A>C (p.Lys802Thr)
c.1820A>C (p.Lys607Thr)
c.2531A>C (p.Lys844Thr)
c.1757A>C (p.Lys586Thr)
c.1724A>C (p.Lys575Thr)
n.2758A>C
c.1937A>C (p.Lys646Thr)
n.2752A>C
Xg.53248746T>ACA413157825IQSEC2c.2593A>T (p.Lys865Ter)
c.386A>T
c.2434A>T (p.Lys812Ter)
c.2404A>T (p.Lys802Ter)
c.1819A>T (p.Lys607Ter)
c.2530A>T (p.Lys844Ter)
c.1756A>T (p.Lys586Ter)
c.1723A>T (p.Lys575Ter)
n.2757A>T
c.1936A>T (p.Lys646Ter)
n.2751A>T
Xg.53248746T>CCA413157827IQSEC2c.2593A>G (p.Lys865Glu)
c.386A>G
c.2434A>G (p.Lys812Glu)
c.2404A>G (p.Lys802Glu)
c.1819A>G (p.Lys607Glu)
c.2530A>G (p.Lys844Glu)
c.1756A>G (p.Lys586Glu)
c.1723A>G (p.Lys575Glu)
n.2757A>G
c.1936A>G (p.Lys646Glu)
n.2751A>G
Xg.53248746T>GCA413157829IQSEC2c.2593A>C (p.Lys865Gln)
c.386A>C
c.2434A>C (p.Lys812Gln)
c.2404A>C (p.Lys802Gln)
c.1819A>C (p.Lys607Gln)
c.2530A>C (p.Lys844Gln)
c.1756A>C (p.Lys586Gln)
c.1723A>C (p.Lys575Gln)
n.2757A>C
c.1936A>C (p.Lys646Gln)
n.2751A>C
Xg.53248747C>ACA413157831IQSEC2c.2592G>T (p.Gln864His)
c.385G>T
c.2433G>T (p.Gln811His)
c.2403G>T (p.Gln801His)
c.1818G>T (p.Gln606His)
c.2529G>T (p.Gln843His)
c.1755G>T (p.Gln585His)
c.1722G>T (p.Gln574His)
n.2756G>T
c.1935G>T (p.Gln645His)
n.2750G>T
 COSMIC COSMIC COSMIC
Xg.53248747C>GCA413157832IQSEC2c.2592G>C (p.Gln864His)
c.385G>C
c.2433G>C (p.Gln811His)
c.2403G>C (p.Gln801His)
c.1818G>C (p.Gln606His)
c.2529G>C (p.Gln843His)
c.1755G>C (p.Gln585His)
c.1722G>C (p.Gln574His)
n.2756G>C
c.1935G>C (p.Gln645His)
n.2750G>C
Xg.53248747C>TCA516428637IQSEC2c.2592G>A (p.Gln864=)
c.385G>A
c.2433G>A (p.Gln811=)
c.2403G>A (p.Gln801=)
c.1818G>A (p.Gln606=)
c.2529G>A (p.Gln843=)
c.1755G>A (p.Gln585=)
c.1722G>A (p.Gln574=)
n.2756G>A
c.1935G>A (p.Gln645=)
n.2750G>A
Xg.53248748T>ACA413157834IQSEC2c.2591A>T (p.Gln864Leu)
c.384A>T
c.2432A>T (p.Gln811Leu)
c.2402A>T (p.Gln801Leu)
c.1817A>T (p.Gln606Leu)
c.2528A>T (p.Gln843Leu)
c.1754A>T (p.Gln585Leu)
c.1721A>T (p.Gln574Leu)
n.2755A>T
c.1934A>T (p.Gln645Leu)
n.2749A>T
Xg.53248748T>CCA413157837IQSEC2c.2591A>G (p.Gln864Arg)
c.384A>G
c.2432A>G (p.Gln811Arg)
c.2402A>G (p.Gln801Arg)
c.1817A>G (p.Gln606Arg)
c.2528A>G (p.Gln843Arg)
c.1754A>G (p.Gln585Arg)
c.1721A>G (p.Gln574Arg)
n.2755A>G
c.1934A>G (p.Gln645Arg)
n.2749A>G
Xg.53248748T>GCA413157839IQSEC2c.2591A>C (p.Gln864Pro)
c.384A>C
c.2432A>C (p.Gln811Pro)
c.2402A>C (p.Gln801Pro)
c.1817A>C (p.Gln606Pro)
c.2528A>C (p.Gln843Pro)
c.1754A>C (p.Gln585Pro)
c.1721A>C (p.Gln574Pro)
n.2755A>C
c.1934A>C (p.Gln645Pro)
n.2749A>C
Xg.53248749G>ACA413157842IQSEC2c.2590C>T (p.Gln864Ter)
c.383C>T
c.2431C>T (p.Gln811Ter)
c.2401C>T (p.Gln801Ter)
c.1816C>T (p.Gln606Ter)
c.2527C>T (p.Gln843Ter)
c.1753C>T (p.Gln585Ter)
c.1720C>T (p.Gln574Ter)
n.2754C>T
c.1933C>T (p.Gln645Ter)
n.2748C>T
Xg.53248749G>CCA413157844IQSEC2c.2590C>G (p.Gln864Glu)
c.383C>G
c.2431C>G (p.Gln811Glu)
c.2401C>G (p.Gln801Glu)
c.1816C>G (p.Gln606Glu)
c.2527C>G (p.Gln843Glu)
c.1753C>G (p.Gln585Glu)
c.1720C>G (p.Gln574Glu)
n.2754C>G
c.1933C>G (p.Gln645Glu)
n.2748C>G
Xg.53248749G>TCA413157846IQSEC2c.2590C>A (p.Gln864Lys)
c.383C>A
c.2431C>A (p.Gln811Lys)
c.2401C>A (p.Gln801Lys)
c.1816C>A (p.Gln606Lys)
c.2527C>A (p.Gln843Lys)
c.1753C>A (p.Gln585Lys)
c.1720C>A (p.Gln574Lys)
n.2754C>A
c.1933C>A (p.Gln645Lys)
n.2748C>A
Xg.53248750C>ACA516428646IQSEC2c.2589G>T (p.Arg863=)
c.382G>T
c.2430G>T (p.Arg810=)
c.2400G>T (p.Arg800=)
c.1815G>T (p.Arg605=)
c.2526G>T (p.Arg842=)
c.1752G>T (p.Arg584=)
c.1719G>T (p.Arg573=)
n.2753G>T
c.1932G>T (p.Arg644=)
n.2747G>T
Xg.53248750C>GCA516428647IQSEC2c.2589G>C (p.Arg863=)
c.382G>C
c.2430G>C (p.Arg810=)
c.2400G>C (p.Arg800=)
c.1815G>C (p.Arg605=)
c.2526G>C (p.Arg842=)
c.1752G>C (p.Arg584=)
c.1719G>C (p.Arg573=)
n.2753G>C
c.1932G>C (p.Arg644=)
n.2747G>C
Xg.53248750C>TCA516428648IQSEC2c.2589G>A (p.Arg863=)
c.382G>A
c.2430G>A (p.Arg810=)
c.2400G>A (p.Arg800=)
c.1815G>A (p.Arg605=)
c.2526G>A (p.Arg842=)
c.1752G>A (p.Arg584=)
c.1719G>A (p.Arg573=)
n.2753G>A
c.1932G>A (p.Arg644=)
n.2747G>A
Xg.53248751C>ACA413157848IQSEC2c.2588G>T (p.Arg863Leu)
c.381G>T
c.2429G>T (p.Arg810Leu)
c.2399G>T (p.Arg800Leu)
c.1814G>T (p.Arg605Leu)
c.2525G>T (p.Arg842Leu)
c.1751G>T (p.Arg584Leu)
c.1718G>T (p.Arg573Leu)
n.2752G>T
c.1931G>T (p.Arg644Leu)
n.2746G>T
Xg.53248751C=CA2429775070IQSEC2c.2588G= (p.Arg863=)
c.381G=
c.2429G= (p.Arg810=)
c.2399G= (p.Arg800=)
c.1814G= (p.Arg605=)
c.2525G= (p.Arg842=)
c.1751G= (p.Arg584=)
c.1718G= (p.Arg573=)
n.2752G=
c.1931G= (p.Arg644=)
n.2746G=
Xg.53248751C>GCA413157850IQSEC2c.2588G>C (p.Arg863Pro)
c.381G>C
c.2429G>C (p.Arg810Pro)
c.2399G>C (p.Arg800Pro)
c.1814G>C (p.Arg605Pro)
c.2525G>C (p.Arg842Pro)
c.1751G>C (p.Arg584Pro)
c.1718G>C (p.Arg573Pro)
n.2752G>C
c.1931G>C (p.Arg644Pro)
n.2746G>C
Xg.53248751C>TCA413157852IQSEC2c.2588G>A (p.Arg863Gln)
c.381G>A
c.2429G>A (p.Arg810Gln)
c.2399G>A (p.Arg800Gln)
c.1814G>A (p.Arg605Gln)
c.2525G>A (p.Arg842Gln)
c.1751G>A (p.Arg584Gln)
c.1718G>A (p.Arg573Gln)
n.2752G>A
c.1931G>A (p.Arg644Gln)
n.2746G>A
 dbSNP gnomAD v3 gnomAD v4
Xg.53248752G>ACA413157854IQSEC2c.2587C>T (p.Arg863Trp)
c.380C>T
c.2428C>T (p.Arg810Trp)
c.2398C>T (p.Arg800Trp)
c.1813C>T (p.Arg605Trp)
c.2524C>T (p.Arg842Trp)
c.1750C>T (p.Arg584Trp)
c.1717C>T (p.Arg573Trp)
n.2751C>T
c.1930C>T (p.Arg644Trp)
n.2745C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53248752G>CCA413157858IQSEC2c.2587C>G (p.Arg863Gly)
c.380C>G
c.2428C>G (p.Arg810Gly)
c.2398C>G (p.Arg800Gly)
c.1813C>G (p.Arg605Gly)
c.2524C>G (p.Arg842Gly)
c.1750C>G (p.Arg584Gly)
c.1717C>G (p.Arg573Gly)
n.2751C>G
c.1930C>G (p.Arg644Gly)
n.2745C>G
Xg.53248752G=CA2429775071IQSEC2c.2587C= (p.Arg863=)
c.380C=
c.2428C= (p.Arg810=)
c.2398C= (p.Arg800=)
c.1813C= (p.Arg605=)
c.2524C= (p.Arg842=)
c.1750C= (p.Arg584=)
c.1717C= (p.Arg573=)
n.2751C=
c.1930C= (p.Arg644=)
n.2745C=
Xg.53248752G>TCA516428659IQSEC2c.2587C>A (p.Arg863=)
c.380C>A
c.2428C>A (p.Arg810=)
c.2398C>A (p.Arg800=)
c.1813C>A (p.Arg605=)
c.2524C>A (p.Arg842=)
c.1750C>A (p.Arg584=)
c.1717C>A (p.Arg573=)
n.2751C>A
c.1930C>A (p.Arg644=)
n.2745C>A
 COSMIC COSMIC COSMIC
Xg.53248753G>ACA516428662IQSEC2c.2586C>T (p.Asn862=)
c.379C>T
c.2427C>T (p.Asn809=)
c.2397C>T (p.Asn799=)
c.1812C>T (p.Asn604=)
c.2523C>T (p.Asn841=)
c.1749C>T (p.Asn583=)
c.1716C>T (p.Asn572=)
n.2750C>T
c.1929C>T (p.Asn643=)
n.2744C>T
Xg.53248753G>CCA413157861IQSEC2c.2586C>G (p.Asn862Lys)
c.379C>G
c.2427C>G (p.Asn809Lys)
c.2397C>G (p.Asn799Lys)
c.1812C>G (p.Asn604Lys)
c.2523C>G (p.Asn841Lys)
c.1749C>G (p.Asn583Lys)
c.1716C>G (p.Asn572Lys)
n.2750C>G
c.1929C>G (p.Asn643Lys)
n.2744C>G
Xg.53248753G>TCA413157864IQSEC2c.2586C>A (p.Asn862Lys)
c.379C>A
c.2427C>A (p.Asn809Lys)
c.2397C>A (p.Asn799Lys)
c.1812C>A (p.Asn604Lys)
c.2523C>A (p.Asn841Lys)
c.1749C>A (p.Asn583Lys)
c.1716C>A (p.Asn572Lys)
n.2750C>A
c.1929C>A (p.Asn643Lys)
n.2744C>A
Xg.53248754T>ACA413157870IQSEC2c.2585A>T (p.Asn862Ile)
c.378A>T
c.2426A>T (p.Asn809Ile)
c.2396A>T (p.Asn799Ile)
c.1811A>T (p.Asn604Ile)
c.2522A>T (p.Asn841Ile)
c.1748A>T (p.Asn583Ile)
c.1715A>T (p.Asn572Ile)
n.2749A>T
c.1928A>T (p.Asn643Ile)
n.2743A>T
Xg.53248754T>CCA413157874IQSEC2c.2585A>G (p.Asn862Ser)
c.378A>G
c.2426A>G (p.Asn809Ser)
c.2396A>G (p.Asn799Ser)
c.1811A>G (p.Asn604Ser)
c.2522A>G (p.Asn841Ser)
c.1748A>G (p.Asn583Ser)
c.1715A>G (p.Asn572Ser)
n.2749A>G
c.1928A>G (p.Asn643Ser)
n.2743A>G
Xg.53248754T>GCA413157867IQSEC2c.2585A>C (p.Asn862Thr)
c.378A>C
c.2426A>C (p.Asn809Thr)
c.2396A>C (p.Asn799Thr)
c.1811A>C (p.Asn604Thr)
c.2522A>C (p.Asn841Thr)
c.1748A>C (p.Asn583Thr)
c.1715A>C (p.Asn572Thr)
n.2749A>C
c.1928A>C (p.Asn643Thr)
n.2743A>C
Xg.53248755T>ACA413157878IQSEC2c.2584A>T (p.Asn862Tyr)
c.377A>T
c.2425A>T (p.Asn809Tyr)
c.2395A>T (p.Asn799Tyr)
c.1810A>T (p.Asn604Tyr)
c.2521A>T (p.Asn841Tyr)
c.1747A>T (p.Asn583Tyr)
c.1714A>T (p.Asn572Tyr)
n.2748A>T
c.1927A>T (p.Asn643Tyr)
n.2742A>T
Xg.53248755T>CCA413157881IQSEC2c.2584A>G (p.Asn862Asp)
c.377A>G
c.2425A>G (p.Asn809Asp)
c.2395A>G (p.Asn799Asp)
c.1810A>G (p.Asn604Asp)
c.2521A>G (p.Asn841Asp)
c.1747A>G (p.Asn583Asp)
c.1714A>G (p.Asn572Asp)
n.2748A>G
c.1927A>G (p.Asn643Asp)
n.2742A>G
Xg.53248755T>GCA413157884IQSEC2c.2584A>C (p.Asn862His)
c.377A>C
c.2425A>C (p.Asn809His)
c.2395A>C (p.Asn799His)
c.1810A>C (p.Asn604His)
c.2521A>C (p.Asn841His)
c.1747A>C (p.Asn583His)
c.1714A>C (p.Asn572His)
n.2748A>C
c.1927A>C (p.Asn643His)
n.2742A>C
Xg.53248756C>ACA516428669IQSEC2c.2583G>T (p.Gly861=)
c.376G>T
c.2424G>T (p.Gly808=)
c.2394G>T (p.Gly798=)
c.1809G>T (p.Gly603=)
c.2520G>T (p.Gly840=)
c.1746G>T (p.Gly582=)
c.1713G>T (p.Gly571=)
n.2747G>T
c.1926G>T (p.Gly642=)
n.2741G>T
Xg.53248756C>GCA516428670IQSEC2c.2583G>C (p.Gly861=)
c.376G>C
c.2424G>C (p.Gly808=)
c.2394G>C (p.Gly798=)
c.1809G>C (p.Gly603=)
c.2520G>C (p.Gly840=)
c.1746G>C (p.Gly582=)
c.1713G>C (p.Gly571=)
n.2747G>C
c.1926G>C (p.Gly642=)
n.2741G>C
Xg.53248756C>TCA516428671IQSEC2c.2583G>A (p.Gly861=)
c.376G>A
c.2424G>A (p.Gly808=)
c.2394G>A (p.Gly798=)
c.1809G>A (p.Gly603=)
c.2520G>A (p.Gly840=)
c.1746G>A (p.Gly582=)
c.1713G>A (p.Gly571=)
n.2747G>A
c.1926G>A (p.Gly642=)
n.2741G>A
Xg.53248757C>ACA413157911IQSEC2c.2582G>T (p.Gly861Val)
c.375G>T
c.2423G>T (p.Gly808Val)
c.2393G>T (p.Gly798Val)
c.1808G>T (p.Gly603Val)
c.2519G>T (p.Gly840Val)
c.1745G>T (p.Gly582Val)
c.1712G>T (p.Gly571Val)
n.2746G>T
c.1925G>T (p.Gly642Val)
n.2740G>T
Xg.53248757C>GCA413157914IQSEC2c.2582G>C (p.Gly861Ala)
c.375G>C
c.2423G>C (p.Gly808Ala)
c.2393G>C (p.Gly798Ala)
c.1808G>C (p.Gly603Ala)
c.2519G>C (p.Gly840Ala)
c.1745G>C (p.Gly582Ala)
c.1712G>C (p.Gly571Ala)
n.2746G>C
c.1925G>C (p.Gly642Ala)
n.2740G>C
Xg.53248757C>TCA413157916IQSEC2c.2582G>A (p.Gly861Glu)
c.375G>A
c.2423G>A (p.Gly808Glu)
c.2393G>A (p.Gly798Glu)
c.1808G>A (p.Gly603Glu)
c.2519G>A (p.Gly840Glu)
c.1745G>A (p.Gly582Glu)
c.1712G>A (p.Gly571Glu)
n.2746G>A
c.1925G>A (p.Gly642Glu)
n.2740G>A
 COSMIC COSMIC COSMIC
Xg.53248758C>ACA413157920IQSEC2c.2581G>T (p.Gly861Trp)
c.374G>T
c.2422G>T (p.Gly808Trp)
c.2392G>T (p.Gly798Trp)
c.1807G>T (p.Gly603Trp)
c.2518G>T (p.Gly840Trp)
c.1744G>T (p.Gly582Trp)
c.1711G>T (p.Gly571Trp)
n.2745G>T
c.1924G>T (p.Gly642Trp)
n.2739G>T
Xg.53248758C>GCA413157923IQSEC2c.2581G>C (p.Gly861Arg)
c.374G>C
c.2422G>C (p.Gly808Arg)
c.2392G>C (p.Gly798Arg)
c.1807G>C (p.Gly603Arg)
c.2518G>C (p.Gly840Arg)
c.1744G>C (p.Gly582Arg)
c.1711G>C (p.Gly571Arg)
n.2745G>C
c.1924G>C (p.Gly642Arg)
n.2739G>C
Xg.53248758C>TCA413157926IQSEC2c.2581G>A (p.Gly861Arg)
c.374G>A
c.2422G>A (p.Gly808Arg)
c.2392G>A (p.Gly798Arg)
c.1807G>A (p.Gly603Arg)
c.2518G>A (p.Gly840Arg)
c.1744G>A (p.Gly582Arg)
c.1711G>A (p.Gly571Arg)
n.2745G>A
c.1924G>A (p.Gly642Arg)
n.2739G>A
 ClinVar
Xg.53248759T>ACA516428677IQSEC2c.2580A>T (p.Leu860=)
c.373A>T
c.2421A>T (p.Leu807=)
c.2391A>T (p.Leu797=)
c.1806A>T (p.Leu602=)
c.2517A>T (p.Leu839=)
c.1743A>T (p.Leu581=)
c.1710A>T (p.Leu570=)
n.2744A>T
c.1923A>T (p.Leu641=)
n.2738A>T
Xg.53248759T>CCA516428678IQSEC2c.2580A>G (p.Leu860=)
c.373A>G
c.2421A>G (p.Leu807=)
c.2391A>G (p.Leu797=)
c.1806A>G (p.Leu602=)
c.2517A>G (p.Leu839=)
c.1743A>G (p.Leu581=)
c.1710A>G (p.Leu570=)
n.2744A>G
c.1923A>G (p.Leu641=)
n.2738A>G
Xg.53248759T>GCA516428679IQSEC2c.2580A>C (p.Leu860=)
c.373A>C
c.2421A>C (p.Leu807=)
c.2391A>C (p.Leu797=)
c.1806A>C (p.Leu602=)
c.2517A>C (p.Leu839=)
c.1743A>C (p.Leu581=)
c.1710A>C (p.Leu570=)
n.2744A>C
c.1923A>C (p.Leu641=)
n.2738A>C
Xg.53248760A>CCA413157930IQSEC2c.2579T>G (p.Leu860Arg)
c.372T>G
c.2420T>G (p.Leu807Arg)
c.2390T>G (p.Leu797Arg)
c.1805T>G (p.Leu602Arg)
c.2516T>G (p.Leu839Arg)
c.1742T>G (p.Leu581Arg)
c.1709T>G (p.Leu570Arg)
n.2743T>G
c.1922T>G (p.Leu641Arg)
n.2737T>G
Xg.53248760A>GCA413157934IQSEC2c.2579T>C (p.Leu860Pro)
c.372T>C
c.2420T>C (p.Leu807Pro)
c.2390T>C (p.Leu797Pro)
c.1805T>C (p.Leu602Pro)
c.2516T>C (p.Leu839Pro)
c.1742T>C (p.Leu581Pro)
c.1709T>C (p.Leu570Pro)
n.2743T>C
c.1922T>C (p.Leu641Pro)
n.2737T>C
Xg.53248760A>TCA413157937IQSEC2c.2579T>A (p.Leu860Gln)
c.372T>A
c.2420T>A (p.Leu807Gln)
c.2390T>A (p.Leu797Gln)
c.1805T>A (p.Leu602Gln)
c.2516T>A (p.Leu839Gln)
c.1742T>A (p.Leu581Gln)
c.1709T>A (p.Leu570Gln)
n.2743T>A
c.1922T>A (p.Leu641Gln)
n.2737T>A
Xg.53248760dupCA2697553115IQSEC2c.2579dup (p.Gly861ArgfsTer18)
c.372dup
c.2420dup (p.Gly808ArgfsTer18)
c.2390dup (p.Gly798ArgfsTer18)
c.1805dup (p.Gly603ArgfsTer18)
c.2516dup (p.Gly840ArgfsTer18)
c.1742dup (p.Gly582ArgfsTer18)
c.1709dup (p.Gly571ArgfsTer18)
n.2743dup
c.1922dup (p.Gly642ArgfsTer18)
n.2737dup
 ClinVar
Xg.53248761G>ACA516428682IQSEC2c.2578C>T (p.Leu860=)
c.371C>T
c.2419C>T (p.Leu807=)
c.2389C>T (p.Leu797=)
c.1804C>T (p.Leu602=)
c.2515C>T (p.Leu839=)
c.1741C>T (p.Leu581=)
c.1708C>T (p.Leu570=)
n.2742C>T
c.1921C>T (p.Leu641=)
n.2736C>T
Xg.53248761G>CCA413157940IQSEC2c.2578C>G (p.Leu860Val)
c.371C>G
c.2419C>G (p.Leu807Val)
c.2389C>G (p.Leu797Val)
c.1804C>G (p.Leu602Val)
c.2515C>G (p.Leu839Val)
c.1741C>G (p.Leu581Val)
c.1708C>G (p.Leu570Val)
n.2742C>G
c.1921C>G (p.Leu641Val)
n.2736C>G
Xg.53248761G>TCA413157942IQSEC2c.2578C>A (p.Leu860Ile)
c.371C>A
c.2419C>A (p.Leu807Ile)
c.2389C>A (p.Leu797Ile)
c.1804C>A (p.Leu602Ile)
c.2515C>A (p.Leu839Ile)
c.1741C>A (p.Leu581Ile)
c.1708C>A (p.Leu570Ile)
n.2742C>A
c.1921C>A (p.Leu641Ile)
n.2736C>A
Xg.53248762G>ACA516428685IQSEC2c.2577C>T (p.Phe859=)
c.370C>T
c.2418C>T (p.Phe806=)
c.2388C>T (p.Phe796=)
c.1803C>T (p.Phe601=)
c.2514C>T (p.Phe838=)
c.1740C>T (p.Phe580=)
c.1707C>T (p.Phe569=)
n.2741C>T
c.1920C>T (p.Phe640=)
n.2735C>T
Xg.53248762G>CCA413157948IQSEC2c.2577C>G (p.Phe859Leu)
c.370C>G
c.2418C>G (p.Phe806Leu)
c.2388C>G (p.Phe796Leu)
c.1803C>G (p.Phe601Leu)
c.2514C>G (p.Phe838Leu)
c.1740C>G (p.Phe580Leu)
c.1707C>G (p.Phe569Leu)
n.2741C>G
c.1920C>G (p.Phe640Leu)
n.2735C>G
Xg.53248762G>TCA413157946IQSEC2c.2577C>A (p.Phe859Leu)
c.370C>A
c.2418C>A (p.Phe806Leu)
c.2388C>A (p.Phe796Leu)
c.1803C>A (p.Phe601Leu)
c.2514C>A (p.Phe838Leu)
c.1740C>A (p.Phe580Leu)
c.1707C>A (p.Phe569Leu)
n.2741C>A
c.1920C>A (p.Phe640Leu)
n.2735C>A
Xg.53248763A>CCA413157950IQSEC2c.2576T>G (p.Phe859Cys)
c.369T>G
c.2417T>G (p.Phe806Cys)
c.2387T>G (p.Phe796Cys)
c.1802T>G (p.Phe601Cys)
c.2513T>G (p.Phe838Cys)
c.1739T>G (p.Phe580Cys)
c.1706T>G (p.Phe569Cys)
n.2740T>G
c.1919T>G (p.Phe640Cys)
n.2734T>G
Xg.53248763A>GCA413157953IQSEC2c.2576T>C (p.Phe859Ser)
c.369T>C
c.2417T>C (p.Phe806Ser)
c.2387T>C (p.Phe796Ser)
c.1802T>C (p.Phe601Ser)
c.2513T>C (p.Phe838Ser)
c.1739T>C (p.Phe580Ser)
c.1706T>C (p.Phe569Ser)
n.2740T>C
c.1919T>C (p.Phe640Ser)
n.2734T>C
Xg.53248763A>TCA413157954IQSEC2c.2576T>A (p.Phe859Tyr)
c.369T>A
c.2417T>A (p.Phe806Tyr)
c.2387T>A (p.Phe796Tyr)
c.1802T>A (p.Phe601Tyr)
c.2513T>A (p.Phe838Tyr)
c.1739T>A (p.Phe580Tyr)
c.1706T>A (p.Phe569Tyr)
n.2740T>A
c.1919T>A (p.Phe640Tyr)
n.2734T>A
Xg.53248764A>CCA413157958IQSEC2c.2575T>G (p.Phe859Val)
c.368T>G
c.2416T>G (p.Phe806Val)
c.2386T>G (p.Phe796Val)
c.1801T>G (p.Phe601Val)
c.2512T>G (p.Phe838Val)
c.1738T>G (p.Phe580Val)
c.1705T>G (p.Phe569Val)
n.2739T>G
c.1918T>G (p.Phe640Val)
n.2733T>G
Xg.53248764A>GCA413157960IQSEC2c.2575T>C (p.Phe859Leu)
c.368T>C
c.2416T>C (p.Phe806Leu)
c.2386T>C (p.Phe796Leu)
c.1801T>C (p.Phe601Leu)
c.2512T>C (p.Phe838Leu)
c.1738T>C (p.Phe580Leu)
c.1705T>C (p.Phe569Leu)
n.2739T>C
c.1918T>C (p.Phe640Leu)
n.2733T>C
Xg.53248764A>TCA413157962IQSEC2c.2575T>A (p.Phe859Ile)
c.368T>A
c.2416T>A (p.Phe806Ile)
c.2386T>A (p.Phe796Ile)
c.1801T>A (p.Phe601Ile)
c.2512T>A (p.Phe838Ile)
c.1738T>A (p.Phe580Ile)
c.1705T>A (p.Phe569Ile)
n.2739T>A
c.1918T>A (p.Phe640Ile)
n.2733T>A
Xg.53248765T>ACA413157967IQSEC2c.2574A>T (p.Glu858Asp)
c.367A>T
c.2415A>T (p.Glu805Asp)
c.2385A>T (p.Glu795Asp)
c.1800A>T (p.Glu600Asp)
c.2511A>T (p.Glu837Asp)
c.1737A>T (p.Glu579Asp)
c.1704A>T (p.Glu568Asp)
n.2738A>T
c.1917A>T (p.Glu639Asp)
n.2732A>T
Xg.53248765T>CCA516428698IQSEC2c.2574A>G (p.Glu858=)
c.367A>G
c.2415A>G (p.Glu805=)
c.2385A>G (p.Glu795=)
c.1800A>G (p.Glu600=)
c.2511A>G (p.Glu837=)
c.1737A>G (p.Glu579=)
c.1704A>G (p.Glu568=)
n.2738A>G
c.1917A>G (p.Glu639=)
n.2732A>G
Xg.53248765T>GCA413157966IQSEC2c.2574A>C (p.Glu858Asp)
c.367A>C
c.2415A>C (p.Glu805Asp)
c.2385A>C (p.Glu795Asp)
c.1800A>C (p.Glu600Asp)
c.2511A>C (p.Glu837Asp)
c.1737A>C (p.Glu579Asp)
c.1704A>C (p.Glu568Asp)
n.2738A>C
c.1917A>C (p.Glu639Asp)
n.2732A>C
Xg.53248766T>ACA413157969IQSEC2c.2573A>T (p.Glu858Val)
c.366A>T
c.2414A>T (p.Glu805Val)
c.2384A>T (p.Glu795Val)
c.1799A>T (p.Glu600Val)
c.2510A>T (p.Glu837Val)
c.1736A>T (p.Glu579Val)
c.1703A>T (p.Glu568Val)
n.2737A>T
c.1916A>T (p.Glu639Val)
n.2731A>T
Xg.53248766T>CCA413157972IQSEC2c.2573A>G (p.Glu858Gly)
c.366A>G
c.2414A>G (p.Glu805Gly)
c.2384A>G (p.Glu795Gly)
c.1799A>G (p.Glu600Gly)
c.2510A>G (p.Glu837Gly)
c.1736A>G (p.Glu579Gly)
c.1703A>G (p.Glu568Gly)
n.2737A>G
c.1916A>G (p.Glu639Gly)
n.2731A>G
Xg.53248766T>GCA413157975IQSEC2c.2573A>C (p.Glu858Ala)
c.366A>C
c.2414A>C (p.Glu805Ala)
c.2384A>C (p.Glu795Ala)
c.1799A>C (p.Glu600Ala)
c.2510A>C (p.Glu837Ala)
c.1736A>C (p.Glu579Ala)
c.1703A>C (p.Glu568Ala)
n.2737A>C
c.1916A>C (p.Glu639Ala)
n.2731A>C
Xg.53248767C>ACA413157979IQSEC2c.2572G>T (p.Glu858Ter)
c.365G>T
c.2413G>T (p.Glu805Ter)
c.2383G>T (p.Glu795Ter)
c.1798G>T (p.Glu600Ter)
c.2509G>T (p.Glu837Ter)
c.1735G>T (p.Glu579Ter)
c.1702G>T (p.Glu568Ter)
n.2736G>T
c.1915G>T (p.Glu639Ter)
n.2730G>T
Xg.53248767C>GCA413157982IQSEC2c.2572G>C (p.Glu858Gln)
c.365G>C
c.2413G>C (p.Glu805Gln)
c.2383G>C (p.Glu795Gln)
c.1798G>C (p.Glu600Gln)
c.2509G>C (p.Glu837Gln)
c.1735G>C (p.Glu579Gln)
c.1702G>C (p.Glu568Gln)
n.2736G>C
c.1915G>C (p.Glu639Gln)
n.2730G>C
Xg.53248767C>TCA413157985IQSEC2c.2572G>A (p.Glu858Lys)
c.365G>A
c.2413G>A (p.Glu805Lys)
c.2383G>A (p.Glu795Lys)
c.1798G>A (p.Glu600Lys)
c.2509G>A (p.Glu837Lys)
c.1735G>A (p.Glu579Lys)
c.1702G>A (p.Glu568Lys)
n.2736G>A
c.1915G>A (p.Glu639Lys)
n.2730G>A
Xg.53248768C>ACA516428710IQSEC2c.2571G>T (p.Gly857=)
c.364G>T
c.2412G>T (p.Gly804=)
c.2382G>T (p.Gly794=)
c.1797G>T (p.Gly599=)
c.2508G>T (p.Gly836=)
c.1734G>T (p.Gly578=)
c.1701G>T (p.Gly567=)
n.2735G>T
c.1914G>T (p.Gly638=)
n.2729G>T
Xg.53248768C>GCA516428716IQSEC2c.2571G>C (p.Gly857=)
c.364G>C
c.2412G>C (p.Gly804=)
c.2382G>C (p.Gly794=)
c.1797G>C (p.Gly599=)
c.2508G>C (p.Gly836=)
c.1734G>C (p.Gly578=)
c.1701G>C (p.Gly567=)
n.2735G>C
c.1914G>C (p.Gly638=)
n.2729G>C
Xg.53248768C>TCA516428717IQSEC2c.2571G>A (p.Gly857=)
c.364G>A
c.2412G>A (p.Gly804=)
c.2382G>A (p.Gly794=)
c.1797G>A (p.Gly599=)
c.2508G>A (p.Gly836=)
c.1734G>A (p.Gly578=)
c.1701G>A (p.Gly567=)
n.2735G>A
c.1914G>A (p.Gly638=)
n.2729G>A
Xg.53248769C>ACA413157989IQSEC2c.2570G>T (p.Gly857Val)
c.363G>T
c.2411G>T (p.Gly804Val)
c.2381G>T (p.Gly794Val)
c.1796G>T (p.Gly599Val)
c.2507G>T (p.Gly836Val)
c.1733G>T (p.Gly578Val)
c.1700G>T (p.Gly567Val)
n.2734G>T
c.1913G>T (p.Gly638Val)
n.2728G>T
Xg.53248769C>GCA413157995IQSEC2c.2570G>C (p.Gly857Ala)
c.363G>C
c.2411G>C (p.Gly804Ala)
c.2381G>C (p.Gly794Ala)
c.1796G>C (p.Gly599Ala)
c.2507G>C (p.Gly836Ala)
c.1733G>C (p.Gly578Ala)
c.1700G>C (p.Gly567Ala)
n.2734G>C
c.1913G>C (p.Gly638Ala)
n.2728G>C
Xg.53248769C>TCA413157992IQSEC2c.2570G>A (p.Gly857Glu)
c.363G>A
c.2411G>A (p.Gly804Glu)
c.2381G>A (p.Gly794Glu)
c.1796G>A (p.Gly599Glu)
c.2507G>A (p.Gly836Glu)
c.1733G>A (p.Gly578Glu)
c.1700G>A (p.Gly567Glu)
n.2734G>A
c.1913G>A (p.Gly638Glu)
n.2728G>A
Xg.53248770C>ACA413157998IQSEC2c.2569G>T (p.Gly857Trp)
c.362G>T
c.2410G>T (p.Gly804Trp)
c.2380G>T (p.Gly794Trp)
c.1795G>T (p.Gly599Trp)
c.2506G>T (p.Gly836Trp)
c.1732G>T (p.Gly578Trp)
c.1699G>T (p.Gly567Trp)
n.2733G>T
c.1912G>T (p.Gly638Trp)
n.2727G>T
Xg.53248770C>GCA413158000IQSEC2c.2569G>C (p.Gly857Arg)
c.362G>C
c.2410G>C (p.Gly804Arg)
c.2380G>C (p.Gly794Arg)
c.1795G>C (p.Gly599Arg)
c.2506G>C (p.Gly836Arg)
c.1732G>C (p.Gly578Arg)
c.1699G>C (p.Gly567Arg)
n.2733G>C
c.1912G>C (p.Gly638Arg)
n.2727G>C
Xg.53248770C>TCA413158005IQSEC2c.2569G>A (p.Gly857Arg)
c.362G>A
c.2410G>A (p.Gly804Arg)
c.2380G>A (p.Gly794Arg)
c.1795G>A (p.Gly599Arg)
c.2506G>A (p.Gly836Arg)
c.1732G>A (p.Gly578Arg)
c.1699G>A (p.Gly567Arg)
n.2733G>A
c.1912G>A (p.Gly638Arg)
n.2727G>A
Xg.53248771T>ACA10419941IQSEC2c.2568A>T (p.Ile856=)
c.361A>T
c.2409A>T (p.Ile803=)
c.2379A>T (p.Ile793=)
c.1794A>T (p.Ile598=)
c.2505A>T (p.Ile835=)
c.1731A>T (p.Ile577=)
c.1698A>T (p.Ile566=)
n.2732A>T
c.1911A>T (p.Ile637=)
n.2726A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53248771T>CCA413158012IQSEC2c.2568A>G (p.Ile856Met)
c.361A>G
c.2409A>G (p.Ile803Met)
c.2379A>G (p.Ile793Met)
c.1794A>G (p.Ile598Met)
c.2505A>G (p.Ile835Met)
c.1731A>G (p.Ile577Met)
c.1698A>G (p.Ile566Met)
n.2732A>G
c.1911A>G (p.Ile637Met)
n.2726A>G
Xg.53248771T>GCA516428726IQSEC2c.2568A>C (p.Ile856=)
c.361A>C
c.2409A>C (p.Ile803=)
c.2379A>C (p.Ile793=)
c.1794A>C (p.Ile598=)
c.2505A>C (p.Ile835=)
c.1731A>C (p.Ile577=)
c.1698A>C (p.Ile566=)
n.2732A>C
c.1911A>C (p.Ile637=)
n.2726A>C
Xg.53248771T=CA2429775072IQSEC2c.2568A= (p.Ile856=)
c.361A=
c.2409A= (p.Ile803=)
c.2379A= (p.Ile793=)
c.1794A= (p.Ile598=)
c.2505A= (p.Ile835=)
c.1731A= (p.Ile577=)
c.1698A= (p.Ile566=)
n.2732A=
c.1911A= (p.Ile637=)
n.2726A=
Xg.53248772A>CCA413158024IQSEC2c.2567T>G (p.Ile856Arg)
c.360T>G
c.2408T>G (p.Ile803Arg)
c.2378T>G (p.Ile793Arg)
c.1793T>G (p.Ile598Arg)
c.2504T>G (p.Ile835Arg)
c.1730T>G (p.Ile577Arg)
c.1697T>G (p.Ile566Arg)
n.2731T>G
c.1910T>G (p.Ile637Arg)
n.2725T>G
Xg.53248772A>GCA413158021IQSEC2c.2567T>C (p.Ile856Thr)
c.360T>C
c.2408T>C (p.Ile803Thr)
c.2378T>C (p.Ile793Thr)
c.1793T>C (p.Ile598Thr)
c.2504T>C (p.Ile835Thr)
c.1730T>C (p.Ile577Thr)
c.1697T>C (p.Ile566Thr)
n.2731T>C
c.1910T>C (p.Ile637Thr)
n.2725T>C
Xg.53248772A>TCA413158018IQSEC2c.2567T>A (p.Ile856Lys)
c.360T>A
c.2408T>A (p.Ile803Lys)
c.2378T>A (p.Ile793Lys)
c.1793T>A (p.Ile598Lys)
c.2504T>A (p.Ile835Lys)
c.1730T>A (p.Ile577Lys)
c.1697T>A (p.Ile566Lys)
n.2731T>A
c.1910T>A (p.Ile637Lys)
n.2725T>A
Xg.53248773T>ACA413158028IQSEC2c.2566A>T (p.Ile856Leu)
c.359A>T
c.2407A>T (p.Ile803Leu)
c.2377A>T (p.Ile793Leu)
c.1792A>T (p.Ile598Leu)
c.2503A>T (p.Ile835Leu)
c.1729A>T (p.Ile577Leu)
c.1696A>T (p.Ile566Leu)
n.2730A>T
c.1909A>T (p.Ile637Leu)
n.2724A>T
Xg.53248773T>CCA16621444IQSEC2c.2566A>G (p.Ile856Val)
c.359A>G
c.2407A>G (p.Ile803Val)
c.2377A>G (p.Ile793Val)
c.1792A>G (p.Ile598Val)
c.2503A>G (p.Ile835Val)
c.1729A>G (p.Ile577Val)
c.1696A>G (p.Ile566Val)
n.2730A>G
c.1909A>G (p.Ile637Val)
n.2724A>G
 ClinVar dbSNP
Xg.53248773T>GCA413158032IQSEC2c.2566A>C (p.Ile856Leu)
c.359A>C
c.2407A>C (p.Ile803Leu)
c.2377A>C (p.Ile793Leu)
c.1792A>C (p.Ile598Leu)
c.2503A>C (p.Ile835Leu)
c.1729A>C (p.Ile577Leu)
c.1696A>C (p.Ile566Leu)
n.2730A>C
c.1909A>C (p.Ile637Leu)
n.2724A>C
Xg.53248773T=CA2429775073IQSEC2c.2566A= (p.Ile856=)
c.359A=
c.2407A= (p.Ile803=)
c.2377A= (p.Ile793=)
c.1792A= (p.Ile598=)
c.2503A= (p.Ile835=)
c.1729A= (p.Ile577=)
c.1696A= (p.Ile566=)
n.2730A=
c.1909A= (p.Ile637=)
n.2724A=

Number of alleles fetched