Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.13283608T>CCA1891546304PHYHc.828+82A>G (n.828+82A>G)
c.528+82A>G (n.528+82A>G)
c.777+82A>G (n.777+82A>G)
c.609+82A>G (n.609+82A>G)
c.834+82A>G (n.834+82A>G)
c.564+82A>G (n.564+82A>G)
c.534+82A>G (n.534+82A>G)
 dbSNP
10g.13283608T=CA1891546303PHYHc.828+82A= (n.828+82A=)
c.528+82A= (n.528+82A=)
c.777+82A= (n.777+82A=)
c.609+82A= (n.609+82A=)
c.834+82A= (n.834+82A=)
c.564+82A= (n.564+82A=)
c.534+82A= (n.534+82A=)
10g.13283609T>CCA2608290822PHYHc.828+81A>G (n.828+81A>G)
c.528+81A>G (n.528+81A>G)
c.777+81A>G (n.777+81A>G)
c.609+81A>G (n.609+81A>G)
c.834+81A>G (n.834+81A>G)
c.564+81A>G (n.564+81A>G)
c.534+81A>G (n.534+81A>G)
 gnomAD v4
10g.13283610A>CCA2574492057PHYHc.828+80T>G (n.828+80T>G)
c.528+80T>G (n.528+80T>G)
c.777+80T>G (n.777+80T>G)
c.609+80T>G (n.609+80T>G)
c.834+80T>G (n.834+80T>G)
c.564+80T>G (n.564+80T>G)
c.534+80T>G (n.534+80T>G)
10g.13283611delCA2608290823PHYHc.828+80del (n.828+80del)
c.528+80del (n.528+80del)
c.777+80del (n.777+80del)
c.609+80del (n.609+80del)
c.834+80del (n.834+80del)
c.564+80del (n.564+80del)
c.534+80del (n.534+80del)
 gnomAD v4
10g.13283611A>TCA2608290824PHYHc.828+79T>A (n.828+79T>A)
c.528+79T>A (n.528+79T>A)
c.777+79T>A (n.777+79T>A)
c.609+79T>A (n.609+79T>A)
c.834+79T>A (n.834+79T>A)
c.564+79T>A (n.564+79T>A)
c.534+79T>A (n.534+79T>A)
 gnomAD v4
10g.13283612T>ACA2574492059PHYHc.828+78A>T (n.828+78A>T)
c.528+78A>T (n.528+78A>T)
c.777+78A>T (n.777+78A>T)
c.609+78A>T (n.609+78A>T)
c.834+78A>T (n.834+78A>T)
c.564+78A>T (n.564+78A>T)
c.534+78A>T (n.534+78A>T)
10g.13283612T>CCA2608290825PHYHc.828+78A>G (n.828+78A>G)
c.528+78A>G (n.528+78A>G)
c.777+78A>G (n.777+78A>G)
c.609+78A>G (n.609+78A>G)
c.834+78A>G (n.834+78A>G)
c.564+78A>G (n.564+78A>G)
c.534+78A>G (n.534+78A>G)
 gnomAD v4
10g.13283614delCA2574492058PHYHc.828+78del (n.828+78del)
c.528+78del (n.528+78del)
c.777+78del (n.777+78del)
c.609+78del (n.609+78del)
c.834+78del (n.834+78del)
c.564+78del (n.564+78del)
c.534+78del (n.534+78del)
10g.13283615G>CCA2608290826PHYHc.828+75C>G (n.828+75C>G)
c.528+75C>G (n.528+75C>G)
c.777+75C>G (n.777+75C>G)
c.609+75C>G (n.609+75C>G)
c.834+75C>G (n.834+75C>G)
c.564+75C>G (n.564+75C>G)
c.534+75C>G (n.534+75C>G)
 gnomAD v4
10g.13283615G>TCA2574492060PHYHc.828+75C>A (n.828+75C>A)
c.528+75C>A (n.528+75C>A)
c.777+75C>A (n.777+75C>A)
c.609+75C>A (n.609+75C>A)
c.834+75C>A (n.834+75C>A)
c.564+75C>A (n.564+75C>A)
c.534+75C>A (n.534+75C>A)
 gnomAD v4
10g.13283616A=CA1891546306PHYHc.828+74T= (n.828+74T=)
c.528+74T= (n.528+74T=)
c.777+74T= (n.777+74T=)
c.609+74T= (n.609+74T=)
c.834+74T= (n.834+74T=)
c.564+74T= (n.564+74T=)
c.534+74T= (n.534+74T=)
10g.13283616A>CCA661898713PHYHc.828+74T>G (n.828+74T>G)
c.528+74T>G (n.528+74T>G)
c.777+74T>G (n.777+74T>G)
c.609+74T>G (n.609+74T>G)
c.834+74T>G (n.834+74T>G)
c.564+74T>G (n.564+74T>G)
c.534+74T>G (n.534+74T>G)
 dbSNP gnomAD v3 gnomAD v4
10g.13283616A>TCA2574492061PHYHc.828+74T>A (n.828+74T>A)
c.528+74T>A (n.528+74T>A)
c.777+74T>A (n.777+74T>A)
c.609+74T>A (n.609+74T>A)
c.834+74T>A (n.834+74T>A)
c.564+74T>A (n.564+74T>A)
c.534+74T>A (n.534+74T>A)
 gnomAD v4
10g.13283618T>ACA2608290827PHYHc.828+72A>T (n.828+72A>T)
c.528+72A>T (n.528+72A>T)
c.777+72A>T (n.777+72A>T)
c.609+72A>T (n.609+72A>T)
c.834+72A>T (n.834+72A>T)
c.564+72A>T (n.564+72A>T)
c.534+72A>T (n.534+72A>T)
 gnomAD v4
10g.13283619T>GCA1891546310PHYHc.828+71A>C (n.828+71A>C)
c.528+71A>C (n.528+71A>C)
c.777+71A>C (n.777+71A>C)
c.609+71A>C (n.609+71A>C)
c.834+71A>C (n.834+71A>C)
c.564+71A>C (n.564+71A>C)
c.534+71A>C (n.534+71A>C)
 dbSNP
10g.13283619T=CA1891546308PHYHc.828+71A= (n.828+71A=)
c.528+71A= (n.528+71A=)
c.777+71A= (n.777+71A=)
c.609+71A= (n.609+71A=)
c.834+71A= (n.834+71A=)
c.564+71A= (n.564+71A=)
c.534+71A= (n.534+71A=)
10g.13283620C>ACA1891546315PHYHc.828+70G>T (n.828+70G>T)
c.528+70G>T (n.528+70G>T)
c.777+70G>T (n.777+70G>T)
c.609+70G>T (n.609+70G>T)
c.834+70G>T (n.834+70G>T)
c.564+70G>T (n.564+70G>T)
c.534+70G>T (n.534+70G>T)
 dbSNP
10g.13283620C=CA1891546314PHYHc.828+70G= (n.828+70G=)
c.528+70G= (n.528+70G=)
c.777+70G= (n.777+70G=)
c.609+70G= (n.609+70G=)
c.834+70G= (n.834+70G=)
c.564+70G= (n.564+70G=)
c.534+70G= (n.534+70G=)
10g.13283622dupCA2574492062PHYHc.828+69dup (n.828+69dup)
c.528+69dup (n.528+69dup)
c.777+69dup (n.777+69dup)
c.609+69dup (n.609+69dup)
c.834+69dup (n.834+69dup)
c.564+69dup (n.564+69dup)
c.534+69dup (n.534+69dup)
 gnomAD v4
10g.13283622A>GCA2608290828PHYHc.828+68T>C (n.828+68T>C)
c.528+68T>C (n.528+68T>C)
c.777+68T>C (n.777+68T>C)
c.609+68T>C (n.609+68T>C)
c.834+68T>C (n.834+68T>C)
c.564+68T>C (n.564+68T>C)
c.534+68T>C (n.534+68T>C)
 gnomAD v4
10g.13283624G>ACA2608290829PHYHc.828+66C>T (n.828+66C>T)
c.528+66C>T (n.528+66C>T)
c.777+66C>T (n.777+66C>T)
c.609+66C>T (n.609+66C>T)
c.834+66C>T (n.834+66C>T)
c.564+66C>T (n.564+66C>T)
c.534+66C>T (n.534+66C>T)
 gnomAD v4
10g.13283624G=CA1891546317PHYHc.828+66C= (n.828+66C=)
c.528+66C= (n.528+66C=)
c.777+66C= (n.777+66C=)
c.609+66C= (n.609+66C=)
c.834+66C= (n.834+66C=)
c.564+66C= (n.564+66C=)
c.534+66C= (n.534+66C=)
10g.13283624G>TCA592075125PHYHc.828+66C>A (n.828+66C>A)
c.528+66C>A (n.528+66C>A)
c.777+66C>A (n.777+66C>A)
c.609+66C>A (n.609+66C>A)
c.834+66C>A (n.834+66C>A)
c.564+66C>A (n.564+66C>A)
c.534+66C>A (n.534+66C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.13283625A>CCA2574492063PHYHc.828+65T>G (n.828+65T>G)
c.528+65T>G (n.528+65T>G)
c.777+65T>G (n.777+65T>G)
c.609+65T>G (n.609+65T>G)
c.834+65T>G (n.834+65T>G)
c.564+65T>G (n.564+65T>G)
c.534+65T>G (n.534+65T>G)
 gnomAD v4
10g.13283627T>ACA2574492064PHYHc.828+63A>T (n.828+63A>T)
c.528+63A>T (n.528+63A>T)
c.777+63A>T (n.777+63A>T)
c.609+63A>T (n.609+63A>T)
c.834+63A>T (n.834+63A>T)
c.564+63A>T (n.564+63A>T)
c.534+63A>T (n.534+63A>T)
10g.13283627T>CCA203276152PHYHc.828+63A>G (n.828+63A>G)
c.528+63A>G (n.528+63A>G)
c.777+63A>G (n.777+63A>G)
c.609+63A>G (n.609+63A>G)
c.834+63A>G (n.834+63A>G)
c.564+63A>G (n.564+63A>G)
c.534+63A>G (n.534+63A>G)
 dbSNP gnomAD v3 gnomAD v4
10g.13283627T=CA1891546318PHYHc.828+63A= (n.828+63A=)
c.528+63A= (n.528+63A=)
c.777+63A= (n.777+63A=)
c.609+63A= (n.609+63A=)
c.834+63A= (n.834+63A=)
c.564+63A= (n.564+63A=)
c.534+63A= (n.534+63A=)
10g.13283629G>ACA661898719PHYHc.828+61C>T (n.828+61C>T)
c.528+61C>T (n.528+61C>T)
c.777+61C>T (n.777+61C>T)
c.609+61C>T (n.609+61C>T)
c.834+61C>T (n.834+61C>T)
c.564+61C>T (n.564+61C>T)
c.534+61C>T (n.534+61C>T)
 dbSNP
10g.13283629G=CA1891546319PHYHc.828+61C= (n.828+61C=)
c.528+61C= (n.528+61C=)
c.777+61C= (n.777+61C=)
c.609+61C= (n.609+61C=)
c.834+61C= (n.834+61C=)
c.564+61C= (n.564+61C=)
c.534+61C= (n.534+61C=)
10g.13283629G>TCA2608290830PHYHc.828+61C>A (n.828+61C>A)
c.528+61C>A (n.528+61C>A)
c.777+61C>A (n.777+61C>A)
c.609+61C>A (n.609+61C>A)
c.834+61C>A (n.834+61C>A)
c.564+61C>A (n.564+61C>A)
c.534+61C>A (n.534+61C>A)
 gnomAD v4
10g.13283630A>GCA2608290831PHYHc.828+60T>C (n.828+60T>C)
c.528+60T>C (n.528+60T>C)
c.777+60T>C (n.777+60T>C)
c.609+60T>C (n.609+60T>C)
c.834+60T>C (n.834+60T>C)
c.564+60T>C (n.564+60T>C)
c.534+60T>C (n.534+60T>C)
 gnomAD v4
10g.13283630A>TCA2608290832PHYHc.828+60T>A (n.828+60T>A)
c.528+60T>A (n.528+60T>A)
c.777+60T>A (n.777+60T>A)
c.609+60T>A (n.609+60T>A)
c.834+60T>A (n.834+60T>A)
c.564+60T>A (n.564+60T>A)
c.534+60T>A (n.534+60T>A)
 gnomAD v4
10g.13283632T>ACA2608290833PHYHc.828+58A>T (n.828+58A>T)
c.528+58A>T (n.528+58A>T)
c.777+58A>T (n.777+58A>T)
c.609+58A>T (n.609+58A>T)
c.834+58A>T (n.834+58A>T)
c.564+58A>T (n.564+58A>T)
c.534+58A>T (n.534+58A>T)
 gnomAD v4
10g.13283633A>TCA2574492065PHYHc.828+57T>A (n.828+57T>A)
c.528+57T>A (n.528+57T>A)
c.777+57T>A (n.777+57T>A)
c.609+57T>A (n.609+57T>A)
c.834+57T>A (n.834+57T>A)
c.564+57T>A (n.564+57T>A)
c.534+57T>A (n.534+57T>A)
 gnomAD v4
10g.13283634C>ACA2574492066PHYHc.828+56G>T (n.828+56G>T)
c.528+56G>T (n.528+56G>T)
c.777+56G>T (n.777+56G>T)
c.609+56G>T (n.609+56G>T)
c.834+56G>T (n.834+56G>T)
c.564+56G>T (n.564+56G>T)
c.534+56G>T (n.534+56G>T)
 gnomAD v4
10g.13283634C=CA1891546320PHYHc.828+56G= (n.828+56G=)
c.528+56G= (n.528+56G=)
c.777+56G= (n.777+56G=)
c.609+56G= (n.609+56G=)
c.834+56G= (n.834+56G=)
c.564+56G= (n.564+56G=)
c.534+56G= (n.534+56G=)
10g.13283634C>TCA925077114PHYHc.828+56G>A (n.828+56G>A)
c.528+56G>A (n.528+56G>A)
c.777+56G>A (n.777+56G>A)
c.609+56G>A (n.609+56G>A)
c.834+56G>A (n.834+56G>A)
c.564+56G>A (n.564+56G>A)
c.534+56G>A (n.534+56G>A)
 dbSNP gnomAD v3 gnomAD v4
10g.13283635A=CA1891546322PHYHc.828+55T= (n.828+55T=)
c.528+55T= (n.528+55T=)
c.777+55T= (n.777+55T=)
c.609+55T= (n.609+55T=)
c.834+55T= (n.834+55T=)
c.564+55T= (n.564+55T=)
c.534+55T= (n.534+55T=)
10g.13283635A>CCA925077115PHYHc.828+55T>G (n.828+55T>G)
c.528+55T>G (n.528+55T>G)
c.777+55T>G (n.777+55T>G)
c.609+55T>G (n.609+55T>G)
c.834+55T>G (n.834+55T>G)
c.564+55T>G (n.564+55T>G)
c.534+55T>G (n.534+55T>G)
 dbSNP gnomAD v3 gnomAD v4
10g.13283637T>CCA925077116PHYHc.828+53A>G (n.828+53A>G)
c.528+53A>G (n.528+53A>G)
c.777+53A>G (n.777+53A>G)
c.609+53A>G (n.609+53A>G)
c.834+53A>G (n.834+53A>G)
c.564+53A>G (n.564+53A>G)
c.534+53A>G (n.534+53A>G)
 dbSNP gnomAD v3 gnomAD v4
10g.13283637T=CA1891546324PHYHc.828+53A= (n.828+53A=)
c.528+53A= (n.528+53A=)
c.777+53A= (n.777+53A=)
c.609+53A= (n.609+53A=)
c.834+53A= (n.834+53A=)
c.564+53A= (n.564+53A=)
c.534+53A= (n.534+53A=)
10g.13283641delCA2608290834PHYHc.828+53del (n.828+53del)
c.528+53del (n.528+53del)
c.777+53del (n.777+53del)
c.609+53del (n.609+53del)
c.834+53del (n.834+53del)
c.564+53del (n.564+53del)
c.534+53del (n.534+53del)
 gnomAD v4
10g.13283641_13283642delinsTGCA1891546325PHYHc.828+48_828+49delinsCA (n.828+48_828+49delinsCA)
c.528+48_528+49delinsCA (n.528+48_528+49delinsCA)
c.777+48_777+49delinsCA (n.777+48_777+49delinsCA)
c.609+48_609+49delinsCA (n.609+48_609+49delinsCA)
c.834+48_834+49delinsCA (n.834+48_834+49delinsCA)
c.564+48_564+49delinsCA (n.564+48_564+49delinsCA)
c.534+48_534+49delinsCA (n.534+48_534+49delinsCA)
10g.13283642delCA5412230PHYHc.828+48del (n.828+48del)
c.528+48del (n.528+48del)
c.777+48del (n.777+48del)
c.609+48del (n.609+48del)
c.834+48del (n.834+48del)
c.564+48del (n.564+48del)
c.534+48del (n.534+48del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.13283642G>ACA5412231PHYHc.828+48C>T (n.828+48C>T)
c.528+48C>T (n.528+48C>T)
c.777+48C>T (n.777+48C>T)
c.609+48C>T (n.609+48C>T)
c.834+48C>T (n.834+48C>T)
c.564+48C>T (n.564+48C>T)
c.534+48C>T (n.534+48C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.13283642G>CCA5412232PHYHc.828+48C>G (n.828+48C>G)
c.528+48C>G (n.528+48C>G)
c.777+48C>G (n.777+48C>G)
c.609+48C>G (n.609+48C>G)
c.834+48C>G (n.834+48C>G)
c.564+48C>G (n.564+48C>G)
c.534+48C>G (n.534+48C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.13283642G=CA1891546335PHYHc.828+48C= (n.828+48C=)
c.528+48C= (n.528+48C=)
c.777+48C= (n.777+48C=)
c.609+48C= (n.609+48C=)
c.834+48C= (n.834+48C=)
c.564+48C= (n.564+48C=)
c.534+48C= (n.534+48C=)
10g.13283642G>TCA2608290835PHYHc.828+48C>A (n.828+48C>A)
c.528+48C>A (n.528+48C>A)
c.777+48C>A (n.777+48C>A)
c.609+48C>A (n.609+48C>A)
c.834+48C>A (n.834+48C>A)
c.564+48C>A (n.564+48C>A)
c.534+48C>A (n.534+48C>A)
 gnomAD v4
10g.13283643T>CCA925077119PHYHc.828+47A>G (n.828+47A>G)
c.528+47A>G (n.528+47A>G)
c.777+47A>G (n.777+47A>G)
c.609+47A>G (n.609+47A>G)
c.834+47A>G (n.834+47A>G)
c.564+47A>G (n.564+47A>G)
c.534+47A>G (n.534+47A>G)
 dbSNP
10g.13283643T=CA1891546341PHYHc.828+47A= (n.828+47A=)
c.528+47A= (n.528+47A=)
c.777+47A= (n.777+47A=)
c.609+47A= (n.609+47A=)
c.834+47A= (n.834+47A=)
c.564+47A= (n.564+47A=)
c.534+47A= (n.534+47A=)
10g.13283644T>CCA2608290836PHYHc.828+46A>G (n.828+46A>G)
c.528+46A>G (n.528+46A>G)
c.777+46A>G (n.777+46A>G)
c.609+46A>G (n.609+46A>G)
c.834+46A>G (n.834+46A>G)
c.564+46A>G (n.564+46A>G)
c.534+46A>G (n.534+46A>G)
 gnomAD v4
10g.13283650C>GCA2608290837PHYHc.828+40G>C (n.828+40G>C)
c.528+40G>C (n.528+40G>C)
c.777+40G>C (n.777+40G>C)
c.609+40G>C (n.609+40G>C)
c.834+40G>C (n.834+40G>C)
c.564+40G>C (n.564+40G>C)
c.534+40G>C (n.534+40G>C)
 gnomAD v4
10g.13283650C>TCA2608290838PHYHc.828+40G>A (n.828+40G>A)
c.528+40G>A (n.528+40G>A)
c.777+40G>A (n.777+40G>A)
c.609+40G>A (n.609+40G>A)
c.834+40G>A (n.834+40G>A)
c.564+40G>A (n.564+40G>A)
c.534+40G>A (n.534+40G>A)
 gnomAD v4
10g.13283654C>TCA2608290839PHYHc.828+36G>A (n.828+36G>A)
c.528+36G>A (n.528+36G>A)
c.777+36G>A (n.777+36G>A)
c.609+36G>A (n.609+36G>A)
c.834+36G>A (n.834+36G>A)
c.564+36G>A (n.564+36G>A)
c.534+36G>A (n.534+36G>A)
 gnomAD v4
10g.13283655A=CA1891546345PHYHc.828+35T= (n.828+35T=)
c.528+35T= (n.528+35T=)
c.777+35T= (n.777+35T=)
c.609+35T= (n.609+35T=)
c.834+35T= (n.834+35T=)
c.564+35T= (n.564+35T=)
c.534+35T= (n.534+35T=)
10g.13283655A>GCA1891546347PHYHc.828+35T>C (n.828+35T>C)
c.528+35T>C (n.528+35T>C)
c.777+35T>C (n.777+35T>C)
c.609+35T>C (n.609+35T>C)
c.834+35T>C (n.834+35T>C)
c.564+35T>C (n.564+35T>C)
c.534+35T>C (n.534+35T>C)
 dbSNP gnomAD v4
10g.13283655A>TCA925077120PHYHc.828+35T>A (n.828+35T>A)
c.528+35T>A (n.528+35T>A)
c.777+35T>A (n.777+35T>A)
c.609+35T>A (n.609+35T>A)
c.834+35T>A (n.834+35T>A)
c.564+35T>A (n.564+35T>A)
c.534+35T>A (n.534+35T>A)
 dbSNP gnomAD v3 gnomAD v4
10g.13283658T>CCA5412233PHYHc.828+32A>G (n.828+32A>G)
c.528+32A>G (n.528+32A>G)
c.777+32A>G (n.777+32A>G)
c.609+32A>G (n.609+32A>G)
c.834+32A>G (n.834+32A>G)
c.564+32A>G (n.564+32A>G)
c.534+32A>G (n.534+32A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.13283658T=CA1891546349PHYHc.828+32A= (n.828+32A=)
c.528+32A= (n.528+32A=)
c.777+32A= (n.777+32A=)
c.609+32A= (n.609+32A=)
c.834+32A= (n.834+32A=)
c.564+32A= (n.564+32A=)
c.534+32A= (n.534+32A=)
10g.13283660_13283662delCA2608290840PHYHc.828+29_828+31del (n.828+29_828+31del)
c.528+29_528+31del (n.528+29_528+31del)
c.777+29_777+31del (n.777+29_777+31del)
c.609+29_609+31del (n.609+29_609+31del)
c.834+29_834+31del (n.834+29_834+31del)
c.564+29_564+31del (n.564+29_564+31del)
c.534+29_534+31del (n.534+29_534+31del)
 gnomAD v4
10g.13283660T>ACA2608290841PHYHc.828+30A>T (n.828+30A>T)
c.528+30A>T (n.528+30A>T)
c.777+30A>T (n.777+30A>T)
c.609+30A>T (n.609+30A>T)
c.834+30A>T (n.834+30A>T)
c.564+30A>T (n.564+30A>T)
c.534+30A>T (n.534+30A>T)
 gnomAD v4
10g.13283667_13283675delCA2786697221PHYHc.828+22_828+30del (n.828+22_828+30del)
c.528+22_528+30del (n.528+22_528+30del)
c.777+22_777+30del (n.777+22_777+30del)
c.609+22_609+30del (n.609+22_609+30del)
c.834+22_834+30del (n.834+22_834+30del)
c.564+22_564+30del (n.564+22_564+30del)
c.534+22_534+30del (n.534+22_534+30del)
10g.13283662C=CA1891546352PHYHc.828+28G= (n.828+28G=)
c.528+28G= (n.528+28G=)
c.777+28G= (n.777+28G=)
c.609+28G= (n.609+28G=)
c.834+28G= (n.834+28G=)
c.564+28G= (n.564+28G=)
c.534+28G= (n.534+28G=)
10g.13283662C>GCA203276184PHYHc.828+28G>C (n.828+28G>C)
c.528+28G>C (n.528+28G>C)
c.777+28G>C (n.777+28G>C)
c.609+28G>C (n.609+28G>C)
c.834+28G>C (n.834+28G>C)
c.564+28G>C (n.564+28G>C)
c.534+28G>C (n.534+28G>C)
 dbSNP gnomAD v4
10g.13283663A=CA1891546355PHYHc.828+27T= (n.828+27T=)
c.528+27T= (n.528+27T=)
c.777+27T= (n.777+27T=)
c.609+27T= (n.609+27T=)
c.834+27T= (n.834+27T=)
c.564+27T= (n.564+27T=)
c.534+27T= (n.534+27T=)
10g.13283663A>GCA5412234PHYHc.828+27T>C (n.828+27T>C)
c.528+27T>C (n.528+27T>C)
c.777+27T>C (n.777+27T>C)
c.609+27T>C (n.609+27T>C)
c.834+27T>C (n.834+27T>C)
c.564+27T>C (n.564+27T>C)
c.534+27T>C (n.534+27T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.13283663A>TCA2608290842PHYHc.828+27T>A (n.828+27T>A)
c.528+27T>A (n.528+27T>A)
c.777+27T>A (n.777+27T>A)
c.609+27T>A (n.609+27T>A)
c.834+27T>A (n.834+27T>A)
c.564+27T>A (n.564+27T>A)
c.534+27T>A (n.534+27T>A)
 gnomAD v4
10g.13283664G=CA1891546358PHYHc.828+26C= (n.828+26C=)
c.528+26C= (n.528+26C=)
c.777+26C= (n.777+26C=)
c.609+26C= (n.609+26C=)
c.834+26C= (n.834+26C=)
c.564+26C= (n.564+26C=)
c.534+26C= (n.534+26C=)
10g.13283664G>TCA5412235PHYHc.828+26C>A (n.828+26C>A)
c.528+26C>A (n.528+26C>A)
c.777+26C>A (n.777+26C>A)
c.609+26C>A (n.609+26C>A)
c.834+26C>A (n.834+26C>A)
c.564+26C>A (n.564+26C>A)
c.534+26C>A (n.534+26C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.13283665C>GCA2608290843PHYHc.828+25G>C (n.828+25G>C)
c.528+25G>C (n.528+25G>C)
c.777+25G>C (n.777+25G>C)
c.609+25G>C (n.609+25G>C)
c.834+25G>C (n.834+25G>C)
c.564+25G>C (n.564+25G>C)
c.534+25G>C (n.534+25G>C)
 gnomAD v4
10g.13283665C>TCA2608290844PHYHc.828+25G>A (n.828+25G>A)
c.528+25G>A (n.528+25G>A)
c.777+25G>A (n.777+25G>A)
c.609+25G>A (n.609+25G>A)
c.834+25G>A (n.834+25G>A)
c.564+25G>A (n.564+25G>A)
c.534+25G>A (n.534+25G>A)
 gnomAD v4
10g.13283667G>CCA2608290845PHYHc.828+23C>G (n.828+23C>G)
c.528+23C>G (n.528+23C>G)
c.777+23C>G (n.777+23C>G)
c.609+23C>G (n.609+23C>G)
c.834+23C>G (n.834+23C>G)
c.564+23C>G (n.564+23C>G)
c.534+23C>G (n.534+23C>G)
 gnomAD v4
10g.13283668G>ACA592075130PHYHc.828+22C>T (n.828+22C>T)
c.528+22C>T (n.528+22C>T)
c.777+22C>T (n.777+22C>T)
c.609+22C>T (n.609+22C>T)
c.834+22C>T (n.834+22C>T)
c.564+22C>T (n.564+22C>T)
c.534+22C>T (n.534+22C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.13283668G=CA1891546361PHYHc.828+22C= (n.828+22C=)
c.528+22C= (n.528+22C=)
c.777+22C= (n.777+22C=)
c.609+22C= (n.609+22C=)
c.834+22C= (n.834+22C=)
c.564+22C= (n.564+22C=)
c.534+22C= (n.534+22C=)
10g.13283668G>TCA1891546362PHYHc.828+22C>A (n.828+22C>A)
c.528+22C>A (n.528+22C>A)
c.777+22C>A (n.777+22C>A)
c.609+22C>A (n.609+22C>A)
c.834+22C>A (n.834+22C>A)
c.564+22C>A (n.564+22C>A)
c.534+22C>A (n.534+22C>A)
 dbSNP gnomAD v4
10g.13283669T>GCA2608290846PHYHc.828+21A>C (n.828+21A>C)
c.528+21A>C (n.528+21A>C)
c.777+21A>C (n.777+21A>C)
c.609+21A>C (n.609+21A>C)
c.834+21A>C (n.834+21A>C)
c.564+21A>C (n.564+21A>C)
c.534+21A>C (n.534+21A>C)
 gnomAD v4
10g.13283670G>ACA203276192PHYHc.828+20C>T (n.828+20C>T)
c.528+20C>T (n.528+20C>T)
c.777+20C>T (n.777+20C>T)
c.609+20C>T (n.609+20C>T)
c.834+20C>T (n.834+20C>T)
c.564+20C>T (n.564+20C>T)
c.534+20C>T (n.534+20C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.13283670G>CCA5412236PHYHc.828+20C>G (n.828+20C>G)
c.528+20C>G (n.528+20C>G)
c.777+20C>G (n.777+20C>G)
c.609+20C>G (n.609+20C>G)
c.834+20C>G (n.834+20C>G)
c.564+20C>G (n.564+20C>G)
c.534+20C>G (n.534+20C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.13283670G=CA1891546364PHYHc.828+20C= (n.828+20C=)
c.528+20C= (n.528+20C=)
c.777+20C= (n.777+20C=)
c.609+20C= (n.609+20C=)
c.834+20C= (n.834+20C=)
c.564+20C= (n.564+20C=)
c.534+20C= (n.534+20C=)
10g.13283671C>ACA203276209PHYHc.828+19G>T (n.828+19G>T)
c.528+19G>T (n.528+19G>T)
c.777+19G>T (n.777+19G>T)
c.609+19G>T (n.609+19G>T)
c.834+19G>T (n.834+19G>T)
c.564+19G>T (n.564+19G>T)
c.534+19G>T (n.534+19G>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.13283671C=CA1891546367PHYHc.828+19G= (n.828+19G=)
c.528+19G= (n.528+19G=)
c.777+19G= (n.777+19G=)
c.609+19G= (n.609+19G=)
c.834+19G= (n.834+19G=)
c.564+19G= (n.564+19G=)
c.534+19G= (n.534+19G=)
10g.13283671C>GCA2608290847PHYHc.828+19G>C (n.828+19G>C)
c.528+19G>C (n.528+19G>C)
c.777+19G>C (n.777+19G>C)
c.609+19G>C (n.609+19G>C)
c.834+19G>C (n.834+19G>C)
c.564+19G>C (n.564+19G>C)
c.534+19G>C (n.534+19G>C)
 gnomAD v4
10g.13283671C>TCA2608290848PHYHc.828+19G>A (n.828+19G>A)
c.528+19G>A (n.528+19G>A)
c.777+19G>A (n.777+19G>A)
c.609+19G>A (n.609+19G>A)
c.834+19G>A (n.834+19G>A)
c.564+19G>A (n.564+19G>A)
c.534+19G>A (n.534+19G>A)
 gnomAD v4
10g.13283673G>ACA592075134PHYHc.828+17C>T (n.828+17C>T)
c.528+17C>T (n.528+17C>T)
c.777+17C>T (n.777+17C>T)
c.609+17C>T (n.609+17C>T)
c.834+17C>T (n.834+17C>T)
c.564+17C>T (n.564+17C>T)
c.534+17C>T (n.534+17C>T)
 dbSNP gnomAD v2 gnomAD v4
10g.13283673G=CA1891546370PHYHc.828+17C= (n.828+17C=)
c.528+17C= (n.528+17C=)
c.777+17C= (n.777+17C=)
c.609+17C= (n.609+17C=)
c.834+17C= (n.834+17C=)
c.564+17C= (n.564+17C=)
c.534+17C= (n.534+17C=)
10g.13283673_13283674insGGCACCGCCACCGGCGCCGAGGAACACGAACTTCGCGTTGATGGTCAGCGGCTCTTCCTTGTTGATGCGGTTAATCGCGTCAACGGTCCAGGAGCCGTTGGACTCGCGGTTCA2786697222PHYHc.828+16_828+17insAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATCAACGCGAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC (n.828+16_828+17insAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATCAACGCGAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC)
c.528+16_528+17insAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATCAACGCGAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC (n.528+16_528+17insAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATCAACGCGAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC)
c.777+16_777+17insAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATCAACGCGAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC (n.777+16_777+17insAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATCAACGCGAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC)
c.609+16_609+17insAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATCAACGCGAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC (n.609+16_609+17insAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATCAACGCGAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC)
c.834+16_834+17insAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATCAACGCGAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC (n.834+16_834+17insAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATCAACGCGAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC)
c.564+16_564+17insAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATCAACGCGAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC (n.564+16_564+17insAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATCAACGCGAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC)
c.534+16_534+17insAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATCAACGCGAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC (n.534+16_534+17insAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATCAACGCGAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC)
10g.13283673_13283674insGGCACCGCCACCGGCGCCGAGGAACACGAACTTTGCGTTGATGGTCAGCGGCTCTTCCTTGTTGATGCGGTTGATAGCGTCAACGGTCCAGGAGCCGTTGGACTCGCGGTTCAGGTTGGTGACCTGGTAGCCA2520371421PHYHc.828+16_828+17insGCTACCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCTATCAACCGCATCAACAAGGAAGAGCCGCTGACCATCAACGCAAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC (n.828+16_828+17insGCTACCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCTATCAACCGCATCAACAAGGAAGAGCCGCTGACCATCAACGCAAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC)
c.528+16_528+17insGCTACCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCTATCAACCGCATCAACAAGGAAGAGCCGCTGACCATCAACGCAAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC (n.528+16_528+17insGCTACCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCTATCAACCGCATCAACAAGGAAGAGCCGCTGACCATCAACGCAAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC)
c.777+16_777+17insGCTACCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCTATCAACCGCATCAACAAGGAAGAGCCGCTGACCATCAACGCAAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC (n.777+16_777+17insGCTACCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCTATCAACCGCATCAACAAGGAAGAGCCGCTGACCATCAACGCAAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC)
c.609+16_609+17insGCTACCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCTATCAACCGCATCAACAAGGAAGAGCCGCTGACCATCAACGCAAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC (n.609+16_609+17insGCTACCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCTATCAACCGCATCAACAAGGAAGAGCCGCTGACCATCAACGCAAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC)
c.834+16_834+17insGCTACCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCTATCAACCGCATCAACAAGGAAGAGCCGCTGACCATCAACGCAAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC (n.834+16_834+17insGCTACCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCTATCAACCGCATCAACAAGGAAGAGCCGCTGACCATCAACGCAAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC)
c.564+16_564+17insGCTACCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCTATCAACCGCATCAACAAGGAAGAGCCGCTGACCATCAACGCAAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC (n.564+16_564+17insGCTACCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCTATCAACCGCATCAACAAGGAAGAGCCGCTGACCATCAACGCAAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC)
c.534+16_534+17insGCTACCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCTATCAACCGCATCAACAAGGAAGAGCCGCTGACCATCAACGCAAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC (n.534+16_534+17insGCTACCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCTATCAACCGCATCAACAAGGAAGAGCCGCTGACCATCAACGCAAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC)
10g.13283673_13283674insGGCACCGCCACCGGCGCCGAGGAACACGAACTTAGCGTTAATGGTCAGCGGCTCTTCCTTGTTGATGCGGTTAATCGCGTCAACGGTCCAGGAGCCGTTGGACTCGCGGTTCAGGTTGGTGACCTGATAGCCA2500658932PHYHc.828+16_828+17insGCTATCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATTAACGCTAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC (n.828+16_828+17insGCTATCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATTAACGCTAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC)
c.528+16_528+17insGCTATCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATTAACGCTAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC (n.528+16_528+17insGCTATCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATTAACGCTAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC)
c.777+16_777+17insGCTATCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATTAACGCTAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC (n.777+16_777+17insGCTATCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATTAACGCTAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC)
c.609+16_609+17insGCTATCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATTAACGCTAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC (n.609+16_609+17insGCTATCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATTAACGCTAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC)
c.834+16_834+17insGCTATCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATTAACGCTAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC (n.834+16_834+17insGCTATCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATTAACGCTAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC)
c.564+16_564+17insGCTATCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATTAACGCTAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC (n.564+16_564+17insGCTATCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATTAACGCTAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC)
c.534+16_534+17insGCTATCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATTAACGCTAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC (n.534+16_534+17insGCTATCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATTAACGCTAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC)
10g.13283674C>ACA2574492067PHYHc.828+16G>T (n.828+16G>T)
c.528+16G>T (n.528+16G>T)
c.777+16G>T (n.777+16G>T)
c.609+16G>T (n.609+16G>T)
c.834+16G>T (n.834+16G>T)
c.564+16G>T (n.564+16G>T)
c.534+16G>T (n.534+16G>T)
10g.13283675A>TCA2574492068PHYHc.828+15T>A (n.828+15T>A)
c.528+15T>A (n.528+15T>A)
c.777+15T>A (n.777+15T>A)
c.609+15T>A (n.609+15T>A)
c.834+15T>A (n.834+15T>A)
c.564+15T>A (n.564+15T>A)
c.534+15T>A (n.534+15T>A)
10g.13283676A=CA1891546372PHYHc.828+14T= (n.828+14T=)
c.528+14T= (n.528+14T=)
c.777+14T= (n.777+14T=)
c.609+14T= (n.609+14T=)
c.834+14T= (n.834+14T=)
c.564+14T= (n.564+14T=)
c.534+14T= (n.534+14T=)
10g.13283676A>GCA5412237PHYHc.828+14T>C (n.828+14T>C)
c.528+14T>C (n.528+14T>C)
c.777+14T>C (n.777+14T>C)
c.609+14T>C (n.609+14T>C)
c.834+14T>C (n.834+14T>C)
c.564+14T>C (n.564+14T>C)
c.534+14T>C (n.534+14T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.13283677T>CCA2608290849PHYHc.828+13A>G (n.828+13A>G)
c.528+13A>G (n.528+13A>G)
c.777+13A>G (n.777+13A>G)
c.609+13A>G (n.609+13A>G)
c.834+13A>G (n.834+13A>G)
c.564+13A>G (n.564+13A>G)
c.534+13A>G (n.534+13A>G)
 gnomAD v4
10g.13283680G>ACA2739265287PHYHc.828+10C>T (n.828+10C>T)
c.528+10C>T (n.528+10C>T)
c.777+10C>T (n.777+10C>T)
c.609+10C>T (n.609+10C>T)
c.834+10C>T (n.834+10C>T)
c.564+10C>T (n.564+10C>T)
c.534+10C>T (n.534+10C>T)
 ClinVar
10g.13283680G>CCA2608290850PHYHc.828+10C>G (n.828+10C>G)
c.528+10C>G (n.528+10C>G)
c.777+10C>G (n.777+10C>G)
c.609+10C>G (n.609+10C>G)
c.834+10C>G (n.834+10C>G)
c.564+10C>G (n.564+10C>G)
c.534+10C>G (n.534+10C>G)
 gnomAD v4
10g.13283686T>ACA1139661392PHYHc.828+4A>T (n.828+4A>T)
c.528+4A>T (n.528+4A>T)
c.777+4A>T (n.777+4A>T)
c.609+4A>T (n.609+4A>T)
c.834+4A>T (n.834+4A>T)
c.564+4A>T (n.564+4A>T)
c.534+4A>T (n.534+4A>T)
 ClinVar dbSNP
10g.13283686T=CA1891546378PHYHc.828+4A= (n.828+4A=)
c.528+4A= (n.528+4A=)
c.777+4A= (n.777+4A=)
c.609+4A= (n.609+4A=)
c.834+4A= (n.834+4A=)
c.564+4A= (n.564+4A=)
c.534+4A= (n.534+4A=)
10g.13283687T>CCA2608290851PHYHc.828+3A>G (n.828+3A>G)
c.528+3A>G (n.528+3A>G)
c.777+3A>G (n.777+3A>G)
c.609+3A>G (n.609+3A>G)
c.834+3A>G (n.834+3A>G)
c.564+3A>G (n.564+3A>G)
c.534+3A>G (n.534+3A>G)
 gnomAD v4
10g.13283688A>CCA376034032PHYHc.828+2T>G (n.828+2T>G)
c.528+2T>G (n.528+2T>G)
c.777+2T>G (n.777+2T>G)
c.609+2T>G (n.609+2T>G)
c.834+2T>G (n.834+2T>G)
c.564+2T>G (n.564+2T>G)
c.534+2T>G (n.534+2T>G)
10g.13283688A>GCA376034033PHYHc.828+2T>C (n.828+2T>C)
c.528+2T>C (n.528+2T>C)
c.777+2T>C (n.777+2T>C)
c.609+2T>C (n.609+2T>C)
c.834+2T>C (n.834+2T>C)
c.564+2T>C (n.564+2T>C)
c.534+2T>C (n.534+2T>C)
10g.13283688A>TCA376034034PHYHc.828+2T>A (n.828+2T>A)
c.528+2T>A (n.528+2T>A)
c.777+2T>A (n.777+2T>A)
c.609+2T>A (n.609+2T>A)
c.834+2T>A (n.834+2T>A)
c.564+2T>A (n.564+2T>A)
c.534+2T>A (n.534+2T>A)
10g.13283689C>ACA376034037PHYHc.828+1G>T (n.828+1G>T)
c.528+1G>T (n.528+1G>T)
c.777+1G>T (n.777+1G>T)
c.609+1G>T (n.609+1G>T)
c.834+1G>T (n.834+1G>T)
c.564+1G>T (n.564+1G>T)
c.534+1G>T (n.534+1G>T)
10g.13283689C>GCA376034036PHYHc.828+1G>C (n.828+1G>C)
c.528+1G>C (n.528+1G>C)
c.777+1G>C (n.777+1G>C)
c.609+1G>C (n.609+1G>C)
c.834+1G>C (n.834+1G>C)
c.564+1G>C (n.564+1G>C)
c.534+1G>C (n.534+1G>C)
10g.13283689C>TCA376034035PHYHc.828+1G>A (n.828+1G>A)
c.528+1G>A (n.528+1G>A)
c.777+1G>A (n.777+1G>A)
c.609+1G>A (n.609+1G>A)
c.834+1G>A (n.834+1G>A)
c.564+1G>A (n.564+1G>A)
c.534+1G>A (n.534+1G>A)
10g.13283690C>ACA376034038PHYHc.828G>T (p.Lys276Asn)
c.528G>T (p.Lys176Asn)
c.777G>T (p.Lys259Asn)
c.609G>T (p.Lys203Asn)
c.834G>T (p.Lys278Asn)
c.564G>T (p.Lys188Asn)
c.534G>T (p.Lys178Asn)
 dbSNP gnomAD v3 gnomAD v4
10g.13283690C=CA1891546383PHYHc.828G= (p.Lys276=)
c.528G= (p.Lys176=)
c.777G= (p.Lys259=)
c.609G= (p.Lys203=)
c.834G= (p.Lys278=)
c.564G= (p.Lys188=)
c.534G= (p.Lys178=)
10g.13283690C>GCA376034039PHYHc.828G>C (p.Lys276Asn)
c.528G>C (p.Lys176Asn)
c.777G>C (p.Lys259Asn)
c.609G>C (p.Lys203Asn)
c.834G>C (p.Lys278Asn)
c.564G>C (p.Lys188Asn)
c.534G>C (p.Lys178Asn)
10g.13283690C>TCA468236750PHYHc.828G>A (p.Lys276=)
c.528G>A (p.Lys176=)
c.777G>A (p.Lys259=)
c.609G>A (p.Lys203=)
c.834G>A (p.Lys278=)
c.564G>A (p.Lys188=)
c.534G>A (p.Lys178=)
10g.13283691T>ACA376034040PHYHc.827A>T (p.Lys276Met)
c.527A>T (p.Lys176Met)
c.776A>T (p.Lys259Met)
c.608A>T (p.Lys203Met)
c.833A>T (p.Lys278Met)
c.563A>T (p.Lys188Met)
c.533A>T (p.Lys178Met)
10g.13283691T>CCA376034041PHYHc.827A>G (p.Lys276Arg)
c.527A>G (p.Lys176Arg)
c.776A>G (p.Lys259Arg)
c.608A>G (p.Lys203Arg)
c.833A>G (p.Lys278Arg)
c.563A>G (p.Lys188Arg)
c.533A>G (p.Lys178Arg)
10g.13283691T>GCA376034042PHYHc.827A>C (p.Lys276Thr)
c.527A>C (p.Lys176Thr)
c.776A>C (p.Lys259Thr)
c.608A>C (p.Lys203Thr)
c.833A>C (p.Lys278Thr)
c.563A>C (p.Lys188Thr)
c.533A>C (p.Lys178Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.13283691T=CA1891546388PHYHc.827A= (p.Lys276=)
c.527A= (p.Lys176=)
c.776A= (p.Lys259=)
c.608A= (p.Lys203=)
c.833A= (p.Lys278=)
c.563A= (p.Lys188=)
c.533A= (p.Lys178=)
10g.13283692T>ACA376034043PHYHc.826A>T (p.Lys276Ter)
c.526A>T (p.Lys176Ter)
c.775A>T (p.Lys259Ter)
c.607A>T (p.Lys203Ter)
c.832A>T (p.Lys278Ter)
c.562A>T (p.Lys188Ter)
c.532A>T (p.Lys178Ter)
10g.13283692T>CCA376034044PHYHc.826A>G (p.Lys276Glu)
c.526A>G (p.Lys176Glu)
c.775A>G (p.Lys259Glu)
c.607A>G (p.Lys203Glu)
c.832A>G (p.Lys278Glu)
c.562A>G (p.Lys188Glu)
c.532A>G (p.Lys178Glu)
10g.13283692T>GCA203276238PHYHc.826A>C (p.Lys276Gln)
c.526A>C (p.Lys176Gln)
c.775A>C (p.Lys259Gln)
c.607A>C (p.Lys203Gln)
c.832A>C (p.Lys278Gln)
c.562A>C (p.Lys188Gln)
c.532A>C (p.Lys178Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.13283692T=CA1891546393PHYHc.826A= (p.Lys276=)
c.526A= (p.Lys176=)
c.775A= (p.Lys259=)
c.607A= (p.Lys203=)
c.832A= (p.Lys278=)
c.562A= (p.Lys188=)
c.532A= (p.Lys178=)
10g.13283693C>ACA468236759PHYHc.825G>T (p.Arg275=)
c.525G>T (p.Arg175=)
c.774G>T (p.Arg258=)
c.606G>T (p.Arg202=)
c.831G>T (p.Arg277=)
c.561G>T (p.Arg187=)
c.531G>T (p.Arg177=)
10g.13283693C>GCA468236761PHYHc.825G>C (p.Arg275=)
c.525G>C (p.Arg175=)
c.774G>C (p.Arg258=)
c.606G>C (p.Arg202=)
c.831G>C (p.Arg277=)
c.561G>C (p.Arg187=)
c.531G>C (p.Arg177=)
10g.13283693C>TCA468236763PHYHc.825G>A (p.Arg275=)
c.525G>A (p.Arg175=)
c.774G>A (p.Arg258=)
c.606G>A (p.Arg202=)
c.831G>A (p.Arg277=)
c.561G>A (p.Arg187=)
c.531G>A (p.Arg177=)
10g.13283694C>ACA376034045PHYHc.824G>T (p.Arg275Leu)
c.524G>T (p.Arg175Leu)
c.773G>T (p.Arg258Leu)
c.605G>T (p.Arg202Leu)
c.830G>T (p.Arg277Leu)
c.560G>T (p.Arg187Leu)
c.530G>T (p.Arg177Leu)
10g.13283694C=CA1891546398PHYHc.824G= (p.Arg275=)
c.524G= (p.Arg175=)
c.773G= (p.Arg258=)
c.605G= (p.Arg202=)
c.830G= (p.Arg277=)
c.560G= (p.Arg187=)
c.530G= (p.Arg177=)
10g.13283694C>GCA376034046PHYHc.824G>C (p.Arg275Pro)
c.524G>C (p.Arg175Pro)
c.773G>C (p.Arg258Pro)
c.605G>C (p.Arg202Pro)
c.830G>C (p.Arg277Pro)
c.560G>C (p.Arg187Pro)
c.530G>C (p.Arg177Pro)
10g.13283694C>TCA118908PHYHc.824G>A (p.Arg275Gln)
c.524G>A (p.Arg175Gln)
c.773G>A (p.Arg258Gln)
c.605G>A (p.Arg202Gln)
c.830G>A (p.Arg277Gln)
c.560G>A (p.Arg187Gln)
c.530G>A (p.Arg177Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.13283695G>ACA118904PHYHc.823C>T (p.Arg275Trp)
c.523C>T (p.Arg175Trp)
c.772C>T (p.Arg258Trp)
c.604C>T (p.Arg202Trp)
c.829C>T (p.Arg277Trp)
c.559C>T (p.Arg187Trp)
c.529C>T (p.Arg177Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.13283695G>CCA376034047PHYHc.823C>G (p.Arg275Gly)
c.523C>G (p.Arg175Gly)
c.772C>G (p.Arg258Gly)
c.604C>G (p.Arg202Gly)
c.829C>G (p.Arg277Gly)
c.559C>G (p.Arg187Gly)
c.529C>G (p.Arg177Gly)
10g.13283695G=CA1891546399PHYHc.823C= (p.Arg275=)
c.523C= (p.Arg175=)
c.772C= (p.Arg258=)
c.604C= (p.Arg202=)
c.829C= (p.Arg277=)
c.559C= (p.Arg187=)
c.529C= (p.Arg177=)
10g.13283695G>TCA468236768PHYHc.823C>A (p.Arg275=)
c.523C>A (p.Arg175=)
c.772C>A (p.Arg258=)
c.604C>A (p.Arg202=)
c.829C>A (p.Arg277=)
c.559C>A (p.Arg187=)
c.529C>A (p.Arg177=)
 COSMIC
10g.13283696G>ACA468236770PHYHc.822C>T (p.Phe274=)
c.522C>T (p.Phe174=)
c.771C>T (p.Phe257=)
c.603C>T (p.Phe201=)
c.828C>T (p.Phe276=)
c.558C>T (p.Phe186=)
c.528C>T (p.Phe176=)
10g.13283696G>CCA376034049PHYHc.822C>G (p.Phe274Leu)
c.522C>G (p.Phe174Leu)
c.771C>G (p.Phe257Leu)
c.603C>G (p.Phe201Leu)
c.828C>G (p.Phe276Leu)
c.558C>G (p.Phe186Leu)
c.528C>G (p.Phe176Leu)
10g.13283696G>TCA376034048PHYHc.822C>A (p.Phe274Leu)
c.522C>A (p.Phe174Leu)
c.771C>A (p.Phe257Leu)
c.603C>A (p.Phe201Leu)
c.828C>A (p.Phe276Leu)
c.558C>A (p.Phe186Leu)
c.528C>A (p.Phe176Leu)
10g.13283697A>CCA376034050PHYHc.821T>G (p.Phe274Cys)
c.521T>G (p.Phe174Cys)
c.770T>G (p.Phe257Cys)
c.602T>G (p.Phe201Cys)
c.827T>G (p.Phe276Cys)
c.557T>G (p.Phe186Cys)
c.527T>G (p.Phe176Cys)
10g.13283697A>GCA376034051PHYHc.821T>C (p.Phe274Ser)
c.521T>C (p.Phe174Ser)
c.770T>C (p.Phe257Ser)
c.602T>C (p.Phe201Ser)
c.827T>C (p.Phe276Ser)
c.557T>C (p.Phe186Ser)
c.527T>C (p.Phe176Ser)
10g.13283697A>TCA376034052PHYHc.821T>A (p.Phe274Tyr)
c.521T>A (p.Phe174Tyr)
c.770T>A (p.Phe257Tyr)
c.602T>A (p.Phe201Tyr)
c.827T>A (p.Phe276Tyr)
c.557T>A (p.Phe186Tyr)
c.527T>A (p.Phe176Tyr)
10g.13283698A=CA1891546402PHYHc.820T= (p.Phe274=)
c.520T= (p.Phe174=)
c.769T= (p.Phe257=)
c.601T= (p.Phe201=)
c.826T= (p.Phe276=)
c.556T= (p.Phe186=)
c.526T= (p.Phe176=)
10g.13283698A>CCA376034053PHYHc.820T>G (p.Phe274Val)
c.520T>G (p.Phe174Val)
c.769T>G (p.Phe257Val)
c.601T>G (p.Phe201Val)
c.826T>G (p.Phe276Val)
c.556T>G (p.Phe186Val)
c.526T>G (p.Phe176Val)
10g.13283698A>GCA376034054PHYHc.820T>C (p.Phe274Leu)
c.520T>C (p.Phe174Leu)
c.769T>C (p.Phe257Leu)
c.601T>C (p.Phe201Leu)
c.826T>C (p.Phe276Leu)
c.556T>C (p.Phe186Leu)
c.526T>C (p.Phe176Leu)
 dbSNP gnomAD v4
10g.13283698A>TCA376034055PHYHc.820T>A (p.Phe274Ile)
c.520T>A (p.Phe174Ile)
c.769T>A (p.Phe257Ile)
c.601T>A (p.Phe201Ile)
c.826T>A (p.Phe276Ile)
c.556T>A (p.Phe186Ile)
c.526T>A (p.Phe176Ile)
10g.13283699T>ACA468236780PHYHc.819A>T (p.Gly273=)
c.519A>T (p.Gly173=)
c.768A>T (p.Gly256=)
c.600A>T (p.Gly200=)
c.825A>T (p.Gly275=)
c.555A>T (p.Gly185=)
c.525A>T (p.Gly175=)
10g.13283699T>CCA468236783PHYHc.819A>G (p.Gly273=)
c.519A>G (p.Gly173=)
c.768A>G (p.Gly256=)
c.600A>G (p.Gly200=)
c.825A>G (p.Gly275=)
c.555A>G (p.Gly185=)
c.525A>G (p.Gly175=)
10g.13283699T>GCA468236782PHYHc.819A>C (p.Gly273=)
c.519A>C (p.Gly173=)
c.768A>C (p.Gly256=)
c.600A>C (p.Gly200=)
c.825A>C (p.Gly275=)
c.555A>C (p.Gly185=)
c.525A>C (p.Gly175=)
10g.13283700C>ACA5412238PHYHc.818G>T (p.Gly273Val)
c.518G>T (p.Gly173Val)
c.767G>T (p.Gly256Val)
c.599G>T (p.Gly200Val)
c.824G>T (p.Gly275Val)
c.554G>T (p.Gly185Val)
c.524G>T (p.Gly175Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.13283700C=CA1891546405PHYHc.818G= (p.Gly273=)
c.518G= (p.Gly173=)
c.767G= (p.Gly256=)
c.599G= (p.Gly200=)
c.824G= (p.Gly275=)
c.554G= (p.Gly185=)
c.524G= (p.Gly175=)
10g.13283700C>GCA376034056PHYHc.818G>C (p.Gly273Ala)
c.518G>C (p.Gly173Ala)
c.767G>C (p.Gly256Ala)
c.599G>C (p.Gly200Ala)
c.824G>C (p.Gly275Ala)
c.554G>C (p.Gly185Ala)
c.524G>C (p.Gly175Ala)
10g.13283700C>TCA376034057PHYHc.818G>A (p.Gly273Glu)
c.518G>A (p.Gly173Glu)
c.767G>A (p.Gly256Glu)
c.599G>A (p.Gly200Glu)
c.824G>A (p.Gly275Glu)
c.554G>A (p.Gly185Glu)
c.524G>A (p.Gly175Glu)
 gnomAD v4
10g.13283701C>ACA376034058PHYHc.817G>T (p.Gly273Ter)
c.517G>T (p.Gly173Ter)
c.766G>T (p.Gly256Ter)
c.598G>T (p.Gly200Ter)
c.823G>T (p.Gly275Ter)
c.553G>T (p.Gly185Ter)
c.523G>T (p.Gly175Ter)
 ClinVar
10g.13283701C=CA1891546410PHYHc.817G= (p.Gly273=)
c.517G= (p.Gly173=)
c.766G= (p.Gly256=)
c.598G= (p.Gly200=)
c.823G= (p.Gly275=)
c.553G= (p.Gly185=)
c.523G= (p.Gly175=)
10g.13283701C>GCA376034059PHYHc.817G>C (p.Gly273Arg)
c.517G>C (p.Gly173Arg)
c.766G>C (p.Gly256Arg)
c.598G>C (p.Gly200Arg)
c.823G>C (p.Gly275Arg)
c.553G>C (p.Gly185Arg)
c.523G>C (p.Gly175Arg)
10g.13283701C>TCA5412239PHYHc.817G>A (p.Gly273Arg)
c.517G>A (p.Gly173Arg)
c.766G>A (p.Gly256Arg)
c.598G>A (p.Gly200Arg)
c.823G>A (p.Gly275Arg)
c.553G>A (p.Gly185Arg)
c.523G>A (p.Gly175Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.13283702C>ACA376034060PHYHc.816G>T (p.Gln272His)
c.516G>T (p.Gln172His)
c.765G>T (p.Gln255His)
c.597G>T (p.Gln199His)
c.822G>T (p.Gln274His)
c.552G>T (p.Gln184His)
c.522G>T (p.Gln174His)
10g.13283702C>GCA376034061PHYHc.816G>C (p.Gln272His)
c.516G>C (p.Gln172His)
c.765G>C (p.Gln255His)
c.597G>C (p.Gln199His)
c.822G>C (p.Gln274His)
c.552G>C (p.Gln184His)
c.522G>C (p.Gln174His)
10g.13283702C>TCA468236797PHYHc.816G>A (p.Gln272=)
c.516G>A (p.Gln172=)
c.765G>A (p.Gln255=)
c.597G>A (p.Gln199=)
c.822G>A (p.Gln274=)
c.552G>A (p.Gln184=)
c.522G>A (p.Gln174=)
10g.13283703T>ACA376034062PHYHc.815A>T (p.Gln272Leu)
c.515A>T (p.Gln172Leu)
c.764A>T (p.Gln255Leu)
c.596A>T (p.Gln199Leu)
c.821A>T (p.Gln274Leu)
c.551A>T (p.Gln184Leu)
c.521A>T (p.Gln174Leu)
 ClinVar dbSNP
10g.13283703T>CCA376034064PHYHc.815A>G (p.Gln272Arg)
c.515A>G (p.Gln172Arg)
c.764A>G (p.Gln255Arg)
c.596A>G (p.Gln199Arg)
c.821A>G (p.Gln274Arg)
c.551A>G (p.Gln184Arg)
c.521A>G (p.Gln174Arg)
10g.13283703T>GCA376034063PHYHc.815A>C (p.Gln272Pro)
c.515A>C (p.Gln172Pro)
c.764A>C (p.Gln255Pro)
c.596A>C (p.Gln199Pro)
c.821A>C (p.Gln274Pro)
c.551A>C (p.Gln184Pro)
c.521A>C (p.Gln174Pro)
10g.13283704G>ACA376034065PHYHc.814C>T (p.Gln272Ter)
c.514C>T (p.Gln172Ter)
c.763C>T (p.Gln255Ter)
c.595C>T (p.Gln199Ter)
c.820C>T (p.Gln274Ter)
c.550C>T (p.Gln184Ter)
c.520C>T (p.Gln174Ter)
10g.13283704G>CCA376034066PHYHc.814C>G (p.Gln272Glu)
c.514C>G (p.Gln172Glu)
c.763C>G (p.Gln255Glu)
c.595C>G (p.Gln199Glu)
c.820C>G (p.Gln274Glu)
c.550C>G (p.Gln184Glu)
c.520C>G (p.Gln174Glu)
10g.13283704G>TCA376034067PHYHc.814C>A (p.Gln272Lys)
c.514C>A (p.Gln172Lys)
c.763C>A (p.Gln255Lys)
c.595C>A (p.Gln199Lys)
c.820C>A (p.Gln274Lys)
c.550C>A (p.Gln184Lys)
c.520C>A (p.Gln174Lys)
10g.13283705G>ACA468236803PHYHc.813C>T (p.Thr271=)
c.513C>T (p.Thr171=)
c.762C>T (p.Thr254=)
c.594C>T (p.Thr198=)
c.819C>T (p.Thr273=)
c.549C>T (p.Thr183=)
c.519C>T (p.Thr173=)
10g.13283705G>CCA468236805PHYHc.813C>G (p.Thr271=)
c.513C>G (p.Thr171=)
c.762C>G (p.Thr254=)
c.594C>G (p.Thr198=)
c.819C>G (p.Thr273=)
c.549C>G (p.Thr183=)
c.519C>G (p.Thr173=)
10g.13283705G>TCA468236806PHYHc.813C>A (p.Thr271=)
c.513C>A (p.Thr171=)
c.762C>A (p.Thr254=)
c.594C>A (p.Thr198=)
c.819C>A (p.Thr273=)
c.549C>A (p.Thr183=)
c.519C>A (p.Thr173=)
10g.13283706G>ACA376034068PHYHc.812C>T (p.Thr271Ile)
c.512C>T (p.Thr171Ile)
c.761C>T (p.Thr254Ile)
c.593C>T (p.Thr198Ile)
c.818C>T (p.Thr273Ile)
c.548C>T (p.Thr183Ile)
c.518C>T (p.Thr173Ile)
10g.13283706G>CCA376034069PHYHc.812C>G (p.Thr271Ser)
c.512C>G (p.Thr171Ser)
c.761C>G (p.Thr254Ser)
c.593C>G (p.Thr198Ser)
c.818C>G (p.Thr273Ser)
c.548C>G (p.Thr183Ser)
c.518C>G (p.Thr173Ser)
10g.13283706G=CA1891546413PHYHc.812C= (p.Thr271=)
c.512C= (p.Thr171=)
c.761C= (p.Thr254=)
c.593C= (p.Thr198=)
c.818C= (p.Thr273=)
c.548C= (p.Thr183=)
c.518C= (p.Thr173=)
10g.13283706G>TCA376034070PHYHc.812C>A (p.Thr271Asn)
c.512C>A (p.Thr171Asn)
c.761C>A (p.Thr254Asn)
c.593C>A (p.Thr198Asn)
c.818C>A (p.Thr273Asn)
c.548C>A (p.Thr183Asn)
c.518C>A (p.Thr173Asn)
 dbSNP gnomAD v4
10g.13283707T>ACA376034071PHYHc.811A>T (p.Thr271Ser)
c.511A>T (p.Thr171Ser)
c.760A>T (p.Thr254Ser)
c.592A>T (p.Thr198Ser)
c.817A>T (p.Thr273Ser)
c.547A>T (p.Thr183Ser)
c.517A>T (p.Thr173Ser)
10g.13283707T>CCA376034072PHYHc.811A>G (p.Thr271Ala)
c.511A>G (p.Thr171Ala)
c.760A>G (p.Thr254Ala)
c.592A>G (p.Thr198Ala)
c.817A>G (p.Thr273Ala)
c.547A>G (p.Thr183Ala)
c.517A>G (p.Thr173Ala)
10g.13283707T>GCA376034073PHYHc.811A>C (p.Thr271Pro)
c.511A>C (p.Thr171Pro)
c.760A>C (p.Thr254Pro)
c.592A>C (p.Thr198Pro)
c.817A>C (p.Thr273Pro)
c.547A>C (p.Thr183Pro)
c.517A>C (p.Thr173Pro)
10g.13283710delCA2018072149PHYHc.811del (p.Thr271ProfsTer22)
c.511del (p.Thr171ProfsTer22)
c.760del (p.Thr254ProfsTer22)
c.511del (p.Thr171ProfsTer?)
c.592del (p.Thr198ProfsTer22)
c.817del (p.Thr273ProfsTer22)
c.547del (p.Thr183ProfsTer22)
c.517del (p.Thr173ProfsTer22)
 ClinVar dbSNP
10g.13283708T>ACA376034074PHYHc.810A>T (p.Lys270Asn)
c.510A>T (p.Lys170Asn)
c.759A>T (p.Lys253Asn)
c.591A>T (p.Lys197Asn)
c.816A>T (p.Lys272Asn)
c.546A>T (p.Lys182Asn)
c.516A>T (p.Lys172Asn)
10g.13283708T>CCA468236815PHYHc.810A>G (p.Lys270=)
c.510A>G (p.Lys170=)
c.759A>G (p.Lys253=)
c.591A>G (p.Lys197=)
c.816A>G (p.Lys272=)
c.546A>G (p.Lys182=)
c.516A>G (p.Lys172=)
10g.13283708T>GCA376034075PHYHc.810A>C (p.Lys270Asn)
c.510A>C (p.Lys170Asn)
c.759A>C (p.Lys253Asn)
c.591A>C (p.Lys197Asn)
c.816A>C (p.Lys272Asn)
c.546A>C (p.Lys182Asn)
c.516A>C (p.Lys172Asn)

Number of alleles fetched