Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.38725128G>TCA2665099346SCN10Ac.3228+46C>A (n.3228+46C>A)
c.3225+46C>A (n.3225+46C>A)
c.3252+46C>A (n.3252+46C>A)
c.2934+46C>A (n.2934+46C>A)
c.3237+46C>A (n.3237+46C>A)
c.3234+46C>A (n.3234+46C>A)
c.2943+46C>A (n.2943+46C>A)
 gnomAD v4
3g.38725129T>CCA2665099347SCN10Ac.3228+45A>G (n.3228+45A>G)
c.3225+45A>G (n.3225+45A>G)
c.3252+45A>G (n.3252+45A>G)
c.2934+45A>G (n.2934+45A>G)
c.3237+45A>G (n.3237+45A>G)
c.3234+45A>G (n.3234+45A>G)
c.2943+45A>G (n.2943+45A>G)
 gnomAD v4
3g.38725130G>ACA2320310SCN10Ac.3228+44C>T (n.3228+44C>T)
c.3225+44C>T (n.3225+44C>T)
c.3252+44C>T (n.3252+44C>T)
c.2934+44C>T (n.2934+44C>T)
c.3237+44C>T (n.3237+44C>T)
c.3234+44C>T (n.3234+44C>T)
c.2943+44C>T (n.2943+44C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38725130G=CA1358640528SCN10Ac.3228+44C= (n.3228+44C=)
c.3225+44C= (n.3225+44C=)
c.3252+44C= (n.3252+44C=)
c.2934+44C= (n.2934+44C=)
c.3237+44C= (n.3237+44C=)
c.3234+44C= (n.3234+44C=)
c.2943+44C= (n.2943+44C=)
3g.38725131T>CCA2665099349SCN10Ac.3228+43A>G (n.3228+43A>G)
c.3225+43A>G (n.3225+43A>G)
c.3252+43A>G (n.3252+43A>G)
c.2934+43A>G (n.2934+43A>G)
c.3237+43A>G (n.3237+43A>G)
c.3234+43A>G (n.3234+43A>G)
c.2943+43A>G (n.2943+43A>G)
 gnomAD v4
3g.38725132C>ACA2665099351SCN10Ac.3228+42G>T (n.3228+42G>T)
c.3225+42G>T (n.3225+42G>T)
c.3252+42G>T (n.3252+42G>T)
c.2934+42G>T (n.2934+42G>T)
c.3237+42G>T (n.3237+42G>T)
c.3234+42G>T (n.3234+42G>T)
c.2943+42G>T (n.2943+42G>T)
 gnomAD v4
3g.38725133T>CCA2665099352SCN10Ac.3228+41A>G (n.3228+41A>G)
c.3225+41A>G (n.3225+41A>G)
c.3252+41A>G (n.3252+41A>G)
c.2934+41A>G (n.2934+41A>G)
c.3237+41A>G (n.3237+41A>G)
c.3234+41A>G (n.3234+41A>G)
c.2943+41A>G (n.2943+41A>G)
 gnomAD v4
3g.38725134G>ACA433138420SCN10Ac.3228+40C>T (n.3228+40C>T)
c.3225+40C>T (n.3225+40C>T)
c.3252+40C>T (n.3252+40C>T)
c.2934+40C>T (n.2934+40C>T)
c.3237+40C>T (n.3237+40C>T)
c.3234+40C>T (n.3234+40C>T)
c.2943+40C>T (n.2943+40C>T)
 dbSNP gnomAD v2 gnomAD v4
3g.38725134G=CA1358640529SCN10Ac.3228+40C= (n.3228+40C=)
c.3225+40C= (n.3225+40C=)
c.3252+40C= (n.3252+40C=)
c.2934+40C= (n.2934+40C=)
c.3237+40C= (n.3237+40C=)
c.3234+40C= (n.3234+40C=)
c.2943+40C= (n.2943+40C=)
3g.38725134G>TCA2665099356SCN10Ac.3228+40C>A (n.3228+40C>A)
c.3225+40C>A (n.3225+40C>A)
c.3252+40C>A (n.3252+40C>A)
c.2934+40C>A (n.2934+40C>A)
c.3237+40C>A (n.3237+40C>A)
c.3234+40C>A (n.3234+40C>A)
c.2943+40C>A (n.2943+40C>A)
 gnomAD v4
3g.38725135G>ACA2665099362SCN10Ac.3228+39C>T (n.3228+39C>T)
c.3225+39C>T (n.3225+39C>T)
c.3252+39C>T (n.3252+39C>T)
c.2934+39C>T (n.2934+39C>T)
c.3237+39C>T (n.3237+39C>T)
c.3234+39C>T (n.3234+39C>T)
c.2943+39C>T (n.2943+39C>T)
 gnomAD v4
3g.38725135G>CCA72959464SCN10Ac.3228+39C>G (n.3228+39C>G)
c.3225+39C>G (n.3225+39C>G)
c.3252+39C>G (n.3252+39C>G)
c.2934+39C>G (n.2934+39C>G)
c.3237+39C>G (n.3237+39C>G)
c.3234+39C>G (n.3234+39C>G)
c.2943+39C>G (n.2943+39C>G)
 dbSNP
3g.38725135G=CA1358640530SCN10Ac.3228+39C= (n.3228+39C=)
c.3225+39C= (n.3225+39C=)
c.3252+39C= (n.3252+39C=)
c.2934+39C= (n.2934+39C=)
c.3237+39C= (n.3237+39C=)
c.3234+39C= (n.3234+39C=)
c.2943+39C= (n.2943+39C=)
3g.38725135G>TCA2320311SCN10Ac.3228+39C>A (n.3228+39C>A)
c.3225+39C>A (n.3225+39C>A)
c.3252+39C>A (n.3252+39C>A)
c.2934+39C>A (n.2934+39C>A)
c.3237+39C>A (n.3237+39C>A)
c.3234+39C>A (n.3234+39C>A)
c.2943+39C>A (n.2943+39C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38725136delCA2755904432SCN10Ac.3228+38del (n.3228+38del)
c.3225+38del (n.3225+38del)
c.3252+38del (n.3252+38del)
c.2934+38del (n.2934+38del)
c.3237+38del (n.3237+38del)
c.3234+38del (n.3234+38del)
c.2943+38del (n.2943+38del)
3g.38725136C>ACA2665099365SCN10Ac.3228+38G>T (n.3228+38G>T)
c.3225+38G>T (n.3225+38G>T)
c.3252+38G>T (n.3252+38G>T)
c.2934+38G>T (n.2934+38G>T)
c.3237+38G>T (n.3237+38G>T)
c.3234+38G>T (n.3234+38G>T)
c.2943+38G>T (n.2943+38G>T)
 gnomAD v4
3g.38725136C>GCA2665099366SCN10Ac.3228+38G>C (n.3228+38G>C)
c.3225+38G>C (n.3225+38G>C)
c.3252+38G>C (n.3252+38G>C)
c.2934+38G>C (n.2934+38G>C)
c.3237+38G>C (n.3237+38G>C)
c.3234+38G>C (n.3234+38G>C)
c.2943+38G>C (n.2943+38G>C)
 gnomAD v4
3g.38725137T>CCA2665099367SCN10Ac.3228+37A>G (n.3228+37A>G)
c.3225+37A>G (n.3225+37A>G)
c.3252+37A>G (n.3252+37A>G)
c.2934+37A>G (n.2934+37A>G)
c.3237+37A>G (n.3237+37A>G)
c.3234+37A>G (n.3234+37A>G)
c.2943+37A>G (n.2943+37A>G)
 gnomAD v4
3g.38725138G>ACA2665099368SCN10Ac.3228+36C>T (n.3228+36C>T)
c.3225+36C>T (n.3225+36C>T)
c.3252+36C>T (n.3252+36C>T)
c.2934+36C>T (n.2934+36C>T)
c.3237+36C>T (n.3237+36C>T)
c.3234+36C>T (n.3234+36C>T)
c.2943+36C>T (n.2943+36C>T)
 gnomAD v4
3g.38725139G>ACA2665099369SCN10Ac.3228+35C>T (n.3228+35C>T)
c.3225+35C>T (n.3225+35C>T)
c.3252+35C>T (n.3252+35C>T)
c.2934+35C>T (n.2934+35C>T)
c.3237+35C>T (n.3237+35C>T)
c.3234+35C>T (n.3234+35C>T)
c.2943+35C>T (n.2943+35C>T)
 gnomAD v4
3g.38725139G>TCA2665099370SCN10Ac.3228+35C>A (n.3228+35C>A)
c.3225+35C>A (n.3225+35C>A)
c.3252+35C>A (n.3252+35C>A)
c.2934+35C>A (n.2934+35C>A)
c.3237+35C>A (n.3237+35C>A)
c.3234+35C>A (n.3234+35C>A)
c.2943+35C>A (n.2943+35C>A)
 gnomAD v4
3g.38725140C>ACA2665099371SCN10Ac.3228+34G>T (n.3228+34G>T)
c.3225+34G>T (n.3225+34G>T)
c.3252+34G>T (n.3252+34G>T)
c.2934+34G>T (n.2934+34G>T)
c.3237+34G>T (n.3237+34G>T)
c.3234+34G>T (n.3234+34G>T)
c.2943+34G>T (n.2943+34G>T)
 gnomAD v4
3g.38725140C>TCA2665099373SCN10Ac.3228+34G>A (n.3228+34G>A)
c.3225+34G>A (n.3225+34G>A)
c.3252+34G>A (n.3252+34G>A)
c.2934+34G>A (n.2934+34G>A)
c.3237+34G>A (n.3237+34G>A)
c.3234+34G>A (n.3234+34G>A)
c.2943+34G>A (n.2943+34G>A)
 gnomAD v4
3g.38725141T>CCA2665099374SCN10Ac.3228+33A>G (n.3228+33A>G)
c.3225+33A>G (n.3225+33A>G)
c.3252+33A>G (n.3252+33A>G)
c.2934+33A>G (n.2934+33A>G)
c.3237+33A>G (n.3237+33A>G)
c.3234+33A>G (n.3234+33A>G)
c.2943+33A>G (n.2943+33A>G)
 gnomAD v4
3g.38725141T=CA1358640531SCN10Ac.3228+33A= (n.3228+33A=)
c.3225+33A= (n.3225+33A=)
c.3252+33A= (n.3252+33A=)
c.2934+33A= (n.2934+33A=)
c.3237+33A= (n.3237+33A=)
c.3234+33A= (n.3234+33A=)
c.2943+33A= (n.2943+33A=)
3g.38725142G>ACA2665099376SCN10Ac.3228+32C>T (n.3228+32C>T)
c.3225+32C>T (n.3225+32C>T)
c.3252+32C>T (n.3252+32C>T)
c.2934+32C>T (n.2934+32C>T)
c.3237+32C>T (n.3237+32C>T)
c.3234+32C>T (n.3234+32C>T)
c.2943+32C>T (n.2943+32C>T)
 gnomAD v4
3g.38725142G>CCA2320313SCN10Ac.3228+32C>G (n.3228+32C>G)
c.3225+32C>G (n.3225+32C>G)
c.3252+32C>G (n.3252+32C>G)
c.2934+32C>G (n.2934+32C>G)
c.3237+32C>G (n.3237+32C>G)
c.3234+32C>G (n.3234+32C>G)
c.2943+32C>G (n.2943+32C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38725142G=CA1358640532SCN10Ac.3228+32C= (n.3228+32C=)
c.3225+32C= (n.3225+32C=)
c.3252+32C= (n.3252+32C=)
c.2934+32C= (n.2934+32C=)
c.3237+32C= (n.3237+32C=)
c.3234+32C= (n.3234+32C=)
c.2943+32C= (n.2943+32C=)
3g.38725142G>TCA2665099375SCN10Ac.3228+32C>A (n.3228+32C>A)
c.3225+32C>A (n.3225+32C>A)
c.3252+32C>A (n.3252+32C>A)
c.2934+32C>A (n.2934+32C>A)
c.3237+32C>A (n.3237+32C>A)
c.3234+32C>A (n.3234+32C>A)
c.2943+32C>A (n.2943+32C>A)
 gnomAD v4
3g.38725142_38725145dupCA2320312SCN10Ac.3228+29_3228+32dup (n.3228+29_3228+32dup)
c.3225+29_3225+32dup (n.3225+29_3225+32dup)
c.3252+29_3252+32dup (n.3252+29_3252+32dup)
c.2934+29_2934+32dup (n.2934+29_2934+32dup)
c.3237+29_3237+32dup (n.3237+29_3237+32dup)
c.3234+29_3234+32dup (n.3234+29_3234+32dup)
c.2943+29_2943+32dup (n.2943+29_2943+32dup)
 dbSNP ExAC gnomAD v2
3g.38725143T>CCA2665099379SCN10Ac.3228+31A>G (n.3228+31A>G)
c.3225+31A>G (n.3225+31A>G)
c.3252+31A>G (n.3252+31A>G)
c.2934+31A>G (n.2934+31A>G)
c.3237+31A>G (n.3237+31A>G)
c.3234+31A>G (n.3234+31A>G)
c.2943+31A>G (n.2943+31A>G)
 gnomAD v4
3g.38725143T>GCA72959483SCN10Ac.3228+31A>C (n.3228+31A>C)
c.3225+31A>C (n.3225+31A>C)
c.3252+31A>C (n.3252+31A>C)
c.2934+31A>C (n.2934+31A>C)
c.3237+31A>C (n.3237+31A>C)
c.3234+31A>C (n.3234+31A>C)
c.2943+31A>C (n.2943+31A>C)
 dbSNP
3g.38725143T=CA1358640533SCN10Ac.3228+31A= (n.3228+31A=)
c.3225+31A= (n.3225+31A=)
c.3252+31A= (n.3252+31A=)
c.2934+31A= (n.2934+31A=)
c.3237+31A= (n.3237+31A=)
c.3234+31A= (n.3234+31A=)
c.2943+31A= (n.2943+31A=)
3g.38725144C>ACA2665099383SCN10Ac.3228+30G>T (n.3228+30G>T)
c.3225+30G>T (n.3225+30G>T)
c.3252+30G>T (n.3252+30G>T)
c.2934+30G>T (n.2934+30G>T)
c.3237+30G>T (n.3237+30G>T)
c.3234+30G>T (n.3234+30G>T)
c.2943+30G>T (n.2943+30G>T)
 gnomAD v4
3g.38725144C>GCA2665099419SCN10Ac.3228+30G>C (n.3228+30G>C)
c.3225+30G>C (n.3225+30G>C)
c.3252+30G>C (n.3252+30G>C)
c.2934+30G>C (n.2934+30G>C)
c.3237+30G>C (n.3237+30G>C)
c.3234+30G>C (n.3234+30G>C)
c.2943+30G>C (n.2943+30G>C)
 gnomAD v4
3g.38725145C>ACA2665099422SCN10Ac.3228+29G>T (n.3228+29G>T)
c.3225+29G>T (n.3225+29G>T)
c.3252+29G>T (n.3252+29G>T)
c.2934+29G>T (n.2934+29G>T)
c.3237+29G>T (n.3237+29G>T)
c.3234+29G>T (n.3234+29G>T)
c.2943+29G>T (n.2943+29G>T)
 gnomAD v4
3g.38725145C>GCA2665099423SCN10Ac.3228+29G>C (n.3228+29G>C)
c.3225+29G>C (n.3225+29G>C)
c.3252+29G>C (n.3252+29G>C)
c.2934+29G>C (n.2934+29G>C)
c.3237+29G>C (n.3237+29G>C)
c.3234+29G>C (n.3234+29G>C)
c.2943+29G>C (n.2943+29G>C)
 gnomAD v4
3g.38725145C>TCA2665099424SCN10Ac.3228+29G>A (n.3228+29G>A)
c.3225+29G>A (n.3225+29G>A)
c.3252+29G>A (n.3252+29G>A)
c.2934+29G>A (n.2934+29G>A)
c.3237+29G>A (n.3237+29G>A)
c.3234+29G>A (n.3234+29G>A)
c.2943+29G>A (n.2943+29G>A)
 gnomAD v4
3g.38725146A=CA1358640534SCN10Ac.3228+28T= (n.3228+28T=)
c.3225+28T= (n.3225+28T=)
c.3252+28T= (n.3252+28T=)
c.2934+28T= (n.2934+28T=)
c.3237+28T= (n.3237+28T=)
c.3234+28T= (n.3234+28T=)
c.2943+28T= (n.2943+28T=)
3g.38725146A>CCA1358640535SCN10Ac.3228+28T>G (n.3228+28T>G)
c.3225+28T>G (n.3225+28T>G)
c.3252+28T>G (n.3252+28T>G)
c.2934+28T>G (n.2934+28T>G)
c.3237+28T>G (n.3237+28T>G)
c.3234+28T>G (n.3234+28T>G)
c.2943+28T>G (n.2943+28T>G)
 dbSNP
3g.38725146A>GCA2665099425SCN10Ac.3228+28T>C (n.3228+28T>C)
c.3225+28T>C (n.3225+28T>C)
c.3252+28T>C (n.3252+28T>C)
c.2934+28T>C (n.2934+28T>C)
c.3237+28T>C (n.3237+28T>C)
c.3234+28T>C (n.3234+28T>C)
c.2943+28T>C (n.2943+28T>C)
 gnomAD v4
3g.38725147A=CA1358640536SCN10Ac.3228+27T= (n.3228+27T=)
c.3225+27T= (n.3225+27T=)
c.3252+27T= (n.3252+27T=)
c.2934+27T= (n.2934+27T=)
c.3237+27T= (n.3237+27T=)
c.3234+27T= (n.3234+27T=)
c.2943+27T= (n.2943+27T=)
3g.38725147A>CCA1358640537SCN10Ac.3228+27T>G (n.3228+27T>G)
c.3225+27T>G (n.3225+27T>G)
c.3252+27T>G (n.3252+27T>G)
c.2934+27T>G (n.2934+27T>G)
c.3237+27T>G (n.3237+27T>G)
c.3234+27T>G (n.3234+27T>G)
c.2943+27T>G (n.2943+27T>G)
 dbSNP
3g.38725147A>GCA2320314SCN10Ac.3228+27T>C (n.3228+27T>C)
c.3225+27T>C (n.3225+27T>C)
c.3252+27T>C (n.3252+27T>C)
c.2934+27T>C (n.2934+27T>C)
c.3237+27T>C (n.3237+27T>C)
c.3234+27T>C (n.3234+27T>C)
c.2943+27T>C (n.2943+27T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38725148C>ACA542279369SCN10Ac.3228+26G>T (n.3228+26G>T)
c.3225+26G>T (n.3225+26G>T)
c.3252+26G>T (n.3252+26G>T)
c.2934+26G>T (n.2934+26G>T)
c.3237+26G>T (n.3237+26G>T)
c.3234+26G>T (n.3234+26G>T)
c.2943+26G>T (n.2943+26G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38725148C=CA1358640538SCN10Ac.3228+26G= (n.3228+26G=)
c.3225+26G= (n.3225+26G=)
c.3252+26G= (n.3252+26G=)
c.2934+26G= (n.2934+26G=)
c.3237+26G= (n.3237+26G=)
c.3234+26G= (n.3234+26G=)
c.2943+26G= (n.2943+26G=)
3g.38725148C>TCA2665099433SCN10Ac.3228+26G>A (n.3228+26G>A)
c.3225+26G>A (n.3225+26G>A)
c.3252+26G>A (n.3252+26G>A)
c.2934+26G>A (n.2934+26G>A)
c.3237+26G>A (n.3237+26G>A)
c.3234+26G>A (n.3234+26G>A)
c.2943+26G>A (n.2943+26G>A)
 gnomAD v4
3g.38725149C>ACA2665099434SCN10Ac.3228+25G>T (n.3228+25G>T)
c.3225+25G>T (n.3225+25G>T)
c.3252+25G>T (n.3252+25G>T)
c.2934+25G>T (n.2934+25G>T)
c.3237+25G>T (n.3237+25G>T)
c.3234+25G>T (n.3234+25G>T)
c.2943+25G>T (n.2943+25G>T)
 gnomAD v4
3g.38725149C>TCA2665099435SCN10Ac.3228+25G>A (n.3228+25G>A)
c.3225+25G>A (n.3225+25G>A)
c.3252+25G>A (n.3252+25G>A)
c.2934+25G>A (n.2934+25G>A)
c.3237+25G>A (n.3237+25G>A)
c.3234+25G>A (n.3234+25G>A)
c.2943+25G>A (n.2943+25G>A)
 gnomAD v4
3g.38725150T>CCA2665099437SCN10Ac.3228+24A>G (n.3228+24A>G)
c.3225+24A>G (n.3225+24A>G)
c.3252+24A>G (n.3252+24A>G)
c.2934+24A>G (n.2934+24A>G)
c.3237+24A>G (n.3237+24A>G)
c.3234+24A>G (n.3234+24A>G)
c.2943+24A>G (n.2943+24A>G)
 gnomAD v4
3g.38725151C=CA1358640539SCN10Ac.3228+23G= (n.3228+23G=)
c.3225+23G= (n.3225+23G=)
c.3252+23G= (n.3252+23G=)
c.2934+23G= (n.2934+23G=)
c.3237+23G= (n.3237+23G=)
c.3234+23G= (n.3234+23G=)
c.2943+23G= (n.2943+23G=)
3g.38725151C>TCA542279370SCN10Ac.3228+23G>A (n.3228+23G>A)
c.3225+23G>A (n.3225+23G>A)
c.3252+23G>A (n.3252+23G>A)
c.2934+23G>A (n.2934+23G>A)
c.3237+23G>A (n.3237+23G>A)
c.3234+23G>A (n.3234+23G>A)
c.2943+23G>A (n.2943+23G>A)
 dbSNP gnomAD v2 gnomAD v4
3g.38725152T>CCA1358640541SCN10Ac.3228+22A>G (n.3228+22A>G)
c.3225+22A>G (n.3225+22A>G)
c.3252+22A>G (n.3252+22A>G)
c.2934+22A>G (n.2934+22A>G)
c.3237+22A>G (n.3237+22A>G)
c.3234+22A>G (n.3234+22A>G)
c.2943+22A>G (n.2943+22A>G)
 dbSNP gnomAD v4
3g.38725152T=CA1358640540SCN10Ac.3228+22A= (n.3228+22A=)
c.3225+22A= (n.3225+22A=)
c.3252+22A= (n.3252+22A=)
c.2934+22A= (n.2934+22A=)
c.3237+22A= (n.3237+22A=)
c.3234+22A= (n.3234+22A=)
c.2943+22A= (n.2943+22A=)
3g.38725153C>ACA2665099438SCN10Ac.3228+21G>T (n.3228+21G>T)
c.3225+21G>T (n.3225+21G>T)
c.3252+21G>T (n.3252+21G>T)
c.2934+21G>T (n.2934+21G>T)
c.3237+21G>T (n.3237+21G>T)
c.3234+21G>T (n.3234+21G>T)
c.2943+21G>T (n.2943+21G>T)
 gnomAD v4
3g.38725154C>ACA2665099439SCN10Ac.3228+20G>T (n.3228+20G>T)
c.3225+20G>T (n.3225+20G>T)
c.3252+20G>T (n.3252+20G>T)
c.2934+20G>T (n.2934+20G>T)
c.3237+20G>T (n.3237+20G>T)
c.3234+20G>T (n.3234+20G>T)
c.2943+20G>T (n.2943+20G>T)
 gnomAD v4
3g.38725155A>GCA2665099440SCN10Ac.3228+19T>C (n.3228+19T>C)
c.3225+19T>C (n.3225+19T>C)
c.3252+19T>C (n.3252+19T>C)
c.2934+19T>C (n.2934+19T>C)
c.3237+19T>C (n.3237+19T>C)
c.3234+19T>C (n.3234+19T>C)
c.2943+19T>C (n.2943+19T>C)
 gnomAD v4
3g.38725156G>ACA2665099442SCN10Ac.3228+18C>T (n.3228+18C>T)
c.3225+18C>T (n.3225+18C>T)
c.3252+18C>T (n.3252+18C>T)
c.2934+18C>T (n.2934+18C>T)
c.3237+18C>T (n.3237+18C>T)
c.3234+18C>T (n.3234+18C>T)
c.2943+18C>T (n.2943+18C>T)
 gnomAD v4
3g.38725156G>TCA2665099444SCN10Ac.3228+18C>A (n.3228+18C>A)
c.3225+18C>A (n.3225+18C>A)
c.3252+18C>A (n.3252+18C>A)
c.2934+18C>A (n.2934+18C>A)
c.3237+18C>A (n.3237+18C>A)
c.3234+18C>A (n.3234+18C>A)
c.2943+18C>A (n.2943+18C>A)
 gnomAD v4
3g.38725157G>ACA2320315SCN10Ac.3228+17C>T (n.3228+17C>T)
c.3225+17C>T (n.3225+17C>T)
c.3252+17C>T (n.3252+17C>T)
c.2934+17C>T (n.2934+17C>T)
c.3237+17C>T (n.3237+17C>T)
c.3234+17C>T (n.3234+17C>T)
c.2943+17C>T (n.2943+17C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38725157G=CA1358640542SCN10Ac.3228+17C= (n.3228+17C=)
c.3225+17C= (n.3225+17C=)
c.3252+17C= (n.3252+17C=)
c.2934+17C= (n.2934+17C=)
c.3237+17C= (n.3237+17C=)
c.3234+17C= (n.3234+17C=)
c.2943+17C= (n.2943+17C=)
3g.38725157G>TCA2665099450SCN10Ac.3228+17C>A (n.3228+17C>A)
c.3225+17C>A (n.3225+17C>A)
c.3252+17C>A (n.3252+17C>A)
c.2934+17C>A (n.2934+17C>A)
c.3237+17C>A (n.3237+17C>A)
c.3234+17C>A (n.3234+17C>A)
c.2943+17C>A (n.2943+17C>A)
 gnomAD v4
3g.38725158A>GCA2665099452SCN10Ac.3228+16T>C (n.3228+16T>C)
c.3225+16T>C (n.3225+16T>C)
c.3252+16T>C (n.3252+16T>C)
c.2934+16T>C (n.2934+16T>C)
c.3237+16T>C (n.3237+16T>C)
c.3234+16T>C (n.3234+16T>C)
c.2943+16T>C (n.2943+16T>C)
 gnomAD v4
3g.38725159A>GCA2577554064SCN10Ac.3228+15T>C (n.3228+15T>C)
c.3225+15T>C (n.3225+15T>C)
c.3252+15T>C (n.3252+15T>C)
c.2934+15T>C (n.2934+15T>C)
c.3237+15T>C (n.3237+15T>C)
c.3234+15T>C (n.3234+15T>C)
c.2943+15T>C (n.2943+15T>C)
 gnomAD v4
3g.38725160G>ACA2665099455SCN10Ac.3228+14C>T (n.3228+14C>T)
c.3225+14C>T (n.3225+14C>T)
c.3252+14C>T (n.3252+14C>T)
c.2934+14C>T (n.2934+14C>T)
c.3237+14C>T (n.3237+14C>T)
c.3234+14C>T (n.3234+14C>T)
c.2943+14C>T (n.2943+14C>T)
 gnomAD v4
3g.38725160G>TCA2665099456SCN10Ac.3228+14C>A (n.3228+14C>A)
c.3225+14C>A (n.3225+14C>A)
c.3252+14C>A (n.3252+14C>A)
c.2934+14C>A (n.2934+14C>A)
c.3237+14C>A (n.3237+14C>A)
c.3234+14C>A (n.3234+14C>A)
c.2943+14C>A (n.2943+14C>A)
 gnomAD v4
3g.38725161C>ACA2665099457SCN10Ac.3228+13G>T (n.3228+13G>T)
c.3225+13G>T (n.3225+13G>T)
c.3252+13G>T (n.3252+13G>T)
c.2934+13G>T (n.2934+13G>T)
c.3237+13G>T (n.3237+13G>T)
c.3234+13G>T (n.3234+13G>T)
c.2943+13G>T (n.2943+13G>T)
 gnomAD v4
3g.38725161C>TCA2665099458SCN10Ac.3228+13G>A (n.3228+13G>A)
c.3225+13G>A (n.3225+13G>A)
c.3252+13G>A (n.3252+13G>A)
c.2934+13G>A (n.2934+13G>A)
c.3237+13G>A (n.3237+13G>A)
c.3234+13G>A (n.3234+13G>A)
c.2943+13G>A (n.2943+13G>A)
 gnomAD v4
3g.38725162T>CCA2665099460SCN10Ac.3228+12A>G (n.3228+12A>G)
c.3225+12A>G (n.3225+12A>G)
c.3252+12A>G (n.3252+12A>G)
c.2934+12A>G (n.2934+12A>G)
c.3237+12A>G (n.3237+12A>G)
c.3234+12A>G (n.3234+12A>G)
c.2943+12A>G (n.2943+12A>G)
 gnomAD v4
3g.38725163G>ACA2665099465SCN10Ac.3228+11C>T (n.3228+11C>T)
c.3225+11C>T (n.3225+11C>T)
c.3252+11C>T (n.3252+11C>T)
c.2934+11C>T (n.2934+11C>T)
c.3237+11C>T (n.3237+11C>T)
c.3234+11C>T (n.3234+11C>T)
c.2943+11C>T (n.2943+11C>T)
 gnomAD v4
3g.38725163G>CCA2665099464SCN10Ac.3228+11C>G (n.3228+11C>G)
c.3225+11C>G (n.3225+11C>G)
c.3252+11C>G (n.3252+11C>G)
c.2934+11C>G (n.2934+11C>G)
c.3237+11C>G (n.3237+11C>G)
c.3234+11C>G (n.3234+11C>G)
c.2943+11C>G (n.2943+11C>G)
 dbSNP gnomAD v4
3g.38725163G=CA1358640543SCN10Ac.3228+11C= (n.3228+11C=)
c.3225+11C= (n.3225+11C=)
c.3252+11C= (n.3252+11C=)
c.2934+11C= (n.2934+11C=)
c.3237+11C= (n.3237+11C=)
c.3234+11C= (n.3234+11C=)
c.2943+11C= (n.2943+11C=)
3g.38725163G>TCA2320316SCN10Ac.3228+11C>A (n.3228+11C>A)
c.3225+11C>A (n.3225+11C>A)
c.3252+11C>A (n.3252+11C>A)
c.2934+11C>A (n.2934+11C>A)
c.3237+11C>A (n.3237+11C>A)
c.3234+11C>A (n.3234+11C>A)
c.2943+11C>A (n.2943+11C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38725164A>GCA2665099467SCN10Ac.3228+10T>C (n.3228+10T>C)
c.3225+10T>C (n.3225+10T>C)
c.3252+10T>C (n.3252+10T>C)
c.2934+10T>C (n.2934+10T>C)
c.3237+10T>C (n.3237+10T>C)
c.3234+10T>C (n.3234+10T>C)
c.2943+10T>C (n.2943+10T>C)
 gnomAD v4
3g.38725165C>ACA2665099471SCN10Ac.3228+9G>T (n.3228+9G>T)
c.3225+9G>T (n.3225+9G>T)
c.3252+9G>T (n.3252+9G>T)
c.2934+9G>T (n.2934+9G>T)
c.3237+9G>T (n.3237+9G>T)
c.3234+9G>T (n.3234+9G>T)
c.2943+9G>T (n.2943+9G>T)
 gnomAD v4
3g.38725165C=CA1358640544SCN10Ac.3228+9G= (n.3228+9G=)
c.3225+9G= (n.3225+9G=)
c.3252+9G= (n.3252+9G=)
c.2934+9G= (n.2934+9G=)
c.3237+9G= (n.3237+9G=)
c.3234+9G= (n.3234+9G=)
c.2943+9G= (n.2943+9G=)
3g.38725165C>TCA72959491SCN10Ac.3228+9G>A (n.3228+9G>A)
c.3225+9G>A (n.3225+9G>A)
c.3252+9G>A (n.3252+9G>A)
c.2934+9G>A (n.2934+9G>A)
c.3237+9G>A (n.3237+9G>A)
c.3234+9G>A (n.3234+9G>A)
c.2943+9G>A (n.2943+9G>A)
 dbSNP gnomAD v4
3g.38725166A>CCA2665099474SCN10Ac.3228+8T>G (n.3228+8T>G)
c.3225+8T>G (n.3225+8T>G)
c.3252+8T>G (n.3252+8T>G)
c.2934+8T>G (n.2934+8T>G)
c.3237+8T>G (n.3237+8T>G)
c.3234+8T>G (n.3234+8T>G)
c.2943+8T>G (n.2943+8T>G)
 gnomAD v4
3g.38725166A>GCA2665099476SCN10Ac.3228+8T>C (n.3228+8T>C)
c.3225+8T>C (n.3225+8T>C)
c.3252+8T>C (n.3252+8T>C)
c.2934+8T>C (n.2934+8T>C)
c.3237+8T>C (n.3237+8T>C)
c.3234+8T>C (n.3234+8T>C)
c.2943+8T>C (n.2943+8T>C)
 gnomAD v4
3g.38725167T>CCA2665099477SCN10Ac.3228+7A>G (n.3228+7A>G)
c.3225+7A>G (n.3225+7A>G)
c.3252+7A>G (n.3252+7A>G)
c.2934+7A>G (n.2934+7A>G)
c.3237+7A>G (n.3237+7A>G)
c.3234+7A>G (n.3234+7A>G)
c.2943+7A>G (n.2943+7A>G)
 gnomAD v4
3g.38725168A=CA1358640545SCN10Ac.3228+6T= (n.3228+6T=)
c.3225+6T= (n.3225+6T=)
c.3252+6T= (n.3252+6T=)
c.2934+6T= (n.2934+6T=)
c.3237+6T= (n.3237+6T=)
c.3234+6T= (n.3234+6T=)
c.2943+6T= (n.2943+6T=)
3g.38725168A>GCA2665099481SCN10Ac.3228+6T>C (n.3228+6T>C)
c.3225+6T>C (n.3225+6T>C)
c.3252+6T>C (n.3252+6T>C)
c.2934+6T>C (n.2934+6T>C)
c.3237+6T>C (n.3237+6T>C)
c.3234+6T>C (n.3234+6T>C)
c.2943+6T>C (n.2943+6T>C)
 gnomAD v4
3g.38725168A>TCA2320317SCN10Ac.3228+6T>A (n.3228+6T>A)
c.3225+6T>A (n.3225+6T>A)
c.3252+6T>A (n.3252+6T>A)
c.2934+6T>A (n.2934+6T>A)
c.3237+6T>A (n.3237+6T>A)
c.3234+6T>A (n.3234+6T>A)
c.2943+6T>A (n.2943+6T>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38725169C>ACA2665099490SCN10Ac.3228+5G>T (n.3228+5G>T)
c.3225+5G>T (n.3225+5G>T)
c.3252+5G>T (n.3252+5G>T)
c.2934+5G>T (n.2934+5G>T)
c.3237+5G>T (n.3237+5G>T)
c.3234+5G>T (n.3234+5G>T)
c.2943+5G>T (n.2943+5G>T)
 gnomAD v4
3g.38725169C>GCA2665099491SCN10Ac.3228+5G>C (n.3228+5G>C)
c.3225+5G>C (n.3225+5G>C)
c.3252+5G>C (n.3252+5G>C)
c.2934+5G>C (n.2934+5G>C)
c.3237+5G>C (n.3237+5G>C)
c.3234+5G>C (n.3234+5G>C)
c.2943+5G>C (n.2943+5G>C)
 gnomAD v4
3g.38725169C>TCA2665099492SCN10Ac.3228+5G>A (n.3228+5G>A)
c.3225+5G>A (n.3225+5G>A)
c.3252+5G>A (n.3252+5G>A)
c.2934+5G>A (n.2934+5G>A)
c.3237+5G>A (n.3237+5G>A)
c.3234+5G>A (n.3234+5G>A)
c.2943+5G>A (n.2943+5G>A)
 gnomAD v4
3g.38725170C>ACA2665099493SCN10Ac.3228+4G>T (n.3228+4G>T)
c.3225+4G>T (n.3225+4G>T)
c.3252+4G>T (n.3252+4G>T)
c.2934+4G>T (n.2934+4G>T)
c.3237+4G>T (n.3237+4G>T)
c.3234+4G>T (n.3234+4G>T)
c.2943+4G>T (n.2943+4G>T)
 gnomAD v4
3g.38725170C=CA1358640546SCN10Ac.3228+4G= (n.3228+4G=)
c.3225+4G= (n.3225+4G=)
c.3252+4G= (n.3252+4G=)
c.2934+4G= (n.2934+4G=)
c.3237+4G= (n.3237+4G=)
c.3234+4G= (n.3234+4G=)
c.2943+4G= (n.2943+4G=)
3g.38725170C>GCA1358640547SCN10Ac.3228+4G>C (n.3228+4G>C)
c.3225+4G>C (n.3225+4G>C)
c.3252+4G>C (n.3252+4G>C)
c.2934+4G>C (n.2934+4G>C)
c.3237+4G>C (n.3237+4G>C)
c.3234+4G>C (n.3234+4G>C)
c.2943+4G>C (n.2943+4G>C)
 dbSNP
3g.38725170C>TCA2665099495SCN10Ac.3228+4G>A (n.3228+4G>A)
c.3225+4G>A (n.3225+4G>A)
c.3252+4G>A (n.3252+4G>A)
c.2934+4G>A (n.2934+4G>A)
c.3237+4G>A (n.3237+4G>A)
c.3234+4G>A (n.3234+4G>A)
c.2943+4G>A (n.2943+4G>A)
 gnomAD v4
3g.38725172A>CCA352156568SCN10Ac.3228+2T>G (n.3228+2T>G)
c.3225+2T>G (n.3225+2T>G)
c.3252+2T>G (n.3252+2T>G)
c.2934+2T>G (n.2934+2T>G)
c.3237+2T>G (n.3237+2T>G)
c.3234+2T>G (n.3234+2T>G)
c.2943+2T>G (n.2943+2T>G)
3g.38725172A>GCA352156570SCN10Ac.3228+2T>C (n.3228+2T>C)
c.3225+2T>C (n.3225+2T>C)
c.3252+2T>C (n.3252+2T>C)
c.2934+2T>C (n.2934+2T>C)
c.3237+2T>C (n.3237+2T>C)
c.3234+2T>C (n.3234+2T>C)
c.2943+2T>C (n.2943+2T>C)
3g.38725172A>TCA352156569SCN10Ac.3228+2T>A (n.3228+2T>A)
c.3225+2T>A (n.3225+2T>A)
c.3252+2T>A (n.3252+2T>A)
c.2934+2T>A (n.2934+2T>A)
c.3237+2T>A (n.3237+2T>A)
c.3234+2T>A (n.3234+2T>A)
c.2943+2T>A (n.2943+2T>A)
3g.38725173C>ACA352156571SCN10Ac.3228+1G>T (n.3228+1G>T)
c.3225+1G>T (n.3225+1G>T)
c.3252+1G>T (n.3252+1G>T)
c.2934+1G>T (n.2934+1G>T)
c.3237+1G>T (n.3237+1G>T)
c.3234+1G>T (n.3234+1G>T)
c.2943+1G>T (n.2943+1G>T)
 gnomAD v4
3g.38725173C>GCA352156572SCN10Ac.3228+1G>C (n.3228+1G>C)
c.3225+1G>C (n.3225+1G>C)
c.3252+1G>C (n.3252+1G>C)
c.2934+1G>C (n.2934+1G>C)
c.3237+1G>C (n.3237+1G>C)
c.3234+1G>C (n.3234+1G>C)
c.2943+1G>C (n.2943+1G>C)
3g.38725173C>TCA352156573SCN10Ac.3228+1G>A (n.3228+1G>A)
c.3225+1G>A (n.3225+1G>A)
c.3252+1G>A (n.3252+1G>A)
c.2934+1G>A (n.2934+1G>A)
c.3237+1G>A (n.3237+1G>A)
c.3234+1G>A (n.3234+1G>A)
c.2943+1G>A (n.2943+1G>A)
3g.38725174C>ACA352156574SCN10Ac.3228G>T (p.Glu1076Asp)
c.3225G>T (p.Glu1075Asp)
c.3252G>T (p.Glu1084Asp)
c.2934G>T (p.Glu978Asp)
c.3237G>T (p.Glu1079Asp)
c.3234G>T (p.Glu1078Asp)
c.2943G>T (p.Glu981Asp)
 gnomAD v4
3g.38725174C=CA1358640548SCN10Ac.3228G= (p.Glu1076=)
c.3225G= (p.Glu1075=)
c.3252G= (p.Glu1084=)
c.2934G= (p.Glu978=)
c.3237G= (p.Glu1079=)
c.3234G= (p.Glu1078=)
c.2943G= (p.Glu981=)
3g.38725174C>GCA352156575SCN10Ac.3228G>C (p.Glu1076Asp)
c.3225G>C (p.Glu1075Asp)
c.3252G>C (p.Glu1084Asp)
c.2934G>C (p.Glu978Asp)
c.3237G>C (p.Glu1079Asp)
c.3234G>C (p.Glu1078Asp)
c.2943G>C (p.Glu981Asp)
 dbSNP
3g.38725174C>TCA433138426SCN10Ac.3228G>A (p.Glu1076=)
c.3225G>A (p.Glu1075=)
c.3252G>A (p.Glu1084=)
c.2934G>A (p.Glu978=)
c.3237G>A (p.Glu1079=)
c.3234G>A (p.Glu1078=)
c.2943G>A (p.Glu981=)
3g.38725178_38725201delCA2665099500SCN10Ac.3205_3228del (p.Ser1069_Glu1076del)
c.3202_3225del (p.Ser1068_Glu1075del)
c.3229_3252del (p.Ser1077_Glu1084del)
c.2911_2934del (p.Ser971_Glu978del)
c.3214_3237del (p.Ser1072_Glu1079del)
c.3211_3234del (p.Ser1071_Glu1078del)
c.2920_2943del (p.Ser974_Glu981del)
 gnomAD v4
3g.38725175T>ACA352156576SCN10Ac.3227A>T (p.Glu1076Val)
c.3224A>T (p.Glu1075Val)
c.3251A>T (p.Glu1084Val)
c.2933A>T (p.Glu978Val)
c.3236A>T (p.Glu1079Val)
c.3233A>T (p.Glu1078Val)
c.2942A>T (p.Glu981Val)
3g.38725175T>CCA352156578SCN10Ac.3227A>G (p.Glu1076Gly)
c.3224A>G (p.Glu1075Gly)
c.3251A>G (p.Glu1084Gly)
c.2933A>G (p.Glu978Gly)
c.3236A>G (p.Glu1079Gly)
c.3233A>G (p.Glu1078Gly)
c.2942A>G (p.Glu981Gly)
 gnomAD v4
3g.38725175T>GCA352156577SCN10Ac.3227A>C (p.Glu1076Ala)
c.3224A>C (p.Glu1075Ala)
c.3251A>C (p.Glu1084Ala)
c.2933A>C (p.Glu978Ala)
c.3236A>C (p.Glu1079Ala)
c.3233A>C (p.Glu1078Ala)
c.2942A>C (p.Glu981Ala)
3g.38725176C>ACA352156579SCN10Ac.3226G>T (p.Glu1076Ter)
c.3223G>T (p.Glu1075Ter)
c.3250G>T (p.Glu1084Ter)
c.2932G>T (p.Glu978Ter)
c.3235G>T (p.Glu1079Ter)
c.3232G>T (p.Glu1078Ter)
c.2941G>T (p.Glu981Ter)
 gnomAD v4
3g.38725176C=CA1358640549SCN10Ac.3226G= (p.Glu1076=)
c.3223G= (p.Glu1075=)
c.3250G= (p.Glu1084=)
c.2932G= (p.Glu978=)
c.3235G= (p.Glu1079=)
c.3232G= (p.Glu1078=)
c.2941G= (p.Glu981=)
3g.38725176C>GCA2320318SCN10Ac.3226G>C (p.Glu1076Gln)
c.3223G>C (p.Glu1075Gln)
c.3250G>C (p.Glu1084Gln)
c.2932G>C (p.Glu978Gln)
c.3235G>C (p.Glu1079Gln)
c.3232G>C (p.Glu1078Gln)
c.2941G>C (p.Glu981Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38725176C>TCA352156580SCN10Ac.3226G>A (p.Glu1076Lys)
c.3223G>A (p.Glu1075Lys)
c.3250G>A (p.Glu1084Lys)
c.2932G>A (p.Glu978Lys)
c.3235G>A (p.Glu1079Lys)
c.3232G>A (p.Glu1078Lys)
c.2941G>A (p.Glu981Lys)
 gnomAD v4
3g.38725177A>CCA433138430SCN10Ac.3225T>G (p.Ala1075=)
c.3222T>G (p.Ala1074=)
c.3249T>G (p.Ala1083=)
c.2931T>G (p.Ala977=)
c.3234T>G (p.Ala1078=)
c.3231T>G (p.Ala1077=)
c.2940T>G (p.Ala980=)
 gnomAD v4
3g.38725177A>GCA433138433SCN10Ac.3225T>C (p.Ala1075=)
c.3222T>C (p.Ala1074=)
c.3249T>C (p.Ala1083=)
c.2931T>C (p.Ala977=)
c.3234T>C (p.Ala1078=)
c.3231T>C (p.Ala1077=)
c.2940T>C (p.Ala980=)
 dbSNP gnomAD v4
3g.38725177A>TCA433138434SCN10Ac.3225T>A (p.Ala1075=)
c.3222T>A (p.Ala1074=)
c.3249T>A (p.Ala1083=)
c.2931T>A (p.Ala977=)
c.3234T>A (p.Ala1078=)
c.3231T>A (p.Ala1077=)
c.2940T>A (p.Ala980=)
3g.38725178G>ACA352156581SCN10Ac.3224C>T (p.Ala1075Val)
c.3221C>T (p.Ala1074Val)
c.3248C>T (p.Ala1083Val)
c.2930C>T (p.Ala977Val)
c.3233C>T (p.Ala1078Val)
c.3230C>T (p.Ala1077Val)
c.2939C>T (p.Ala980Val)
 ClinVar gnomAD v4
3g.38725178G>CCA352156582SCN10Ac.3224C>G (p.Ala1075Gly)
c.3221C>G (p.Ala1074Gly)
c.3248C>G (p.Ala1083Gly)
c.2930C>G (p.Ala977Gly)
c.3233C>G (p.Ala1078Gly)
c.3230C>G (p.Ala1077Gly)
c.2939C>G (p.Ala980Gly)
 COSMIC
3g.38725178G>TCA352156583SCN10Ac.3224C>A (p.Ala1075Asp)
c.3221C>A (p.Ala1074Asp)
c.3248C>A (p.Ala1083Asp)
c.2930C>A (p.Ala977Asp)
c.3233C>A (p.Ala1078Asp)
c.3230C>A (p.Ala1077Asp)
c.2939C>A (p.Ala980Asp)
 gnomAD v4
3g.38725179C>ACA352156584SCN10Ac.3223G>T (p.Ala1075Ser)
c.3220G>T (p.Ala1074Ser)
c.3247G>T (p.Ala1083Ser)
c.2929G>T (p.Ala977Ser)
c.3232G>T (p.Ala1078Ser)
c.3229G>T (p.Ala1077Ser)
c.2938G>T (p.Ala980Ser)
 gnomAD v4
3g.38725179C=CA1358640550SCN10Ac.3223G= (p.Ala1075=)
c.3220G= (p.Ala1074=)
c.3247G= (p.Ala1083=)
c.2929G= (p.Ala977=)
c.3232G= (p.Ala1078=)
c.3229G= (p.Ala1077=)
c.2938G= (p.Ala980=)
3g.38725179C>GCA2320319SCN10Ac.3223G>C (p.Ala1075Pro)
c.3220G>C (p.Ala1074Pro)
c.3247G>C (p.Ala1083Pro)
c.2929G>C (p.Ala977Pro)
c.3232G>C (p.Ala1078Pro)
c.3229G>C (p.Ala1077Pro)
c.2938G>C (p.Ala980Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38725179C>TCA352156585SCN10Ac.3223G>A (p.Ala1075Thr)
c.3220G>A (p.Ala1074Thr)
c.3247G>A (p.Ala1083Thr)
c.2929G>A (p.Ala977Thr)
c.3232G>A (p.Ala1078Thr)
c.3229G>A (p.Ala1077Thr)
c.2938G>A (p.Ala980Thr)
 gnomAD v4
3g.38725180A>CCA433138442SCN10Ac.3222T>G (p.Pro1074=)
c.3219T>G (p.Pro1073=)
c.3246T>G (p.Pro1082=)
c.2928T>G (p.Pro976=)
c.3231T>G (p.Pro1077=)
c.3228T>G (p.Pro1076=)
c.2937T>G (p.Pro979=)
3g.38725180A>GCA433138441SCN10Ac.3222T>C (p.Pro1074=)
c.3219T>C (p.Pro1073=)
c.3246T>C (p.Pro1082=)
c.2928T>C (p.Pro976=)
c.3231T>C (p.Pro1077=)
c.3228T>C (p.Pro1076=)
c.2937T>C (p.Pro979=)
 gnomAD v4
3g.38725180A>TCA433138439SCN10Ac.3222T>A (p.Pro1074=)
c.3219T>A (p.Pro1073=)
c.3246T>A (p.Pro1082=)
c.2928T>A (p.Pro976=)
c.3231T>A (p.Pro1077=)
c.3228T>A (p.Pro1076=)
c.2937T>A (p.Pro979=)
3g.38725181G>ACA352156586SCN10Ac.3221C>T (p.Pro1074Leu)
c.3218C>T (p.Pro1073Leu)
c.3245C>T (p.Pro1082Leu)
c.2927C>T (p.Pro976Leu)
c.3230C>T (p.Pro1077Leu)
c.3227C>T (p.Pro1076Leu)
c.2936C>T (p.Pro979Leu)
 gnomAD v4
3g.38725181G>CCA352156587SCN10Ac.3221C>G (p.Pro1074Arg)
c.3218C>G (p.Pro1073Arg)
c.3245C>G (p.Pro1082Arg)
c.2927C>G (p.Pro976Arg)
c.3230C>G (p.Pro1077Arg)
c.3227C>G (p.Pro1076Arg)
c.2936C>G (p.Pro979Arg)
3g.38725181G>TCA352156588SCN10Ac.3221C>A (p.Pro1074His)
c.3218C>A (p.Pro1073His)
c.3245C>A (p.Pro1082His)
c.2927C>A (p.Pro976His)
c.3230C>A (p.Pro1077His)
c.3227C>A (p.Pro1076His)
c.2936C>A (p.Pro979His)
3g.38725182G>ACA2320320SCN10Ac.3220C>T (p.Pro1074Ser)
c.3217C>T (p.Pro1073Ser)
c.3244C>T (p.Pro1082Ser)
c.2926C>T (p.Pro976Ser)
c.3229C>T (p.Pro1077Ser)
c.3226C>T (p.Pro1076Ser)
c.2935C>T (p.Pro979Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
3g.38725182G>CCA352156590SCN10Ac.3220C>G (p.Pro1074Ala)
c.3217C>G (p.Pro1073Ala)
c.3244C>G (p.Pro1082Ala)
c.2926C>G (p.Pro976Ala)
c.3229C>G (p.Pro1077Ala)
c.3226C>G (p.Pro1076Ala)
c.2935C>G (p.Pro979Ala)
3g.38725182G=CA1358640551SCN10Ac.3220C= (p.Pro1074=)
c.3217C= (p.Pro1073=)
c.3244C= (p.Pro1082=)
c.2926C= (p.Pro976=)
c.3229C= (p.Pro1077=)
c.3226C= (p.Pro1076=)
c.2935C= (p.Pro979=)
3g.38725182G>TCA352156589SCN10Ac.3220C>A (p.Pro1074Thr)
c.3217C>A (p.Pro1073Thr)
c.3244C>A (p.Pro1082Thr)
c.2926C>A (p.Pro976Thr)
c.3229C>A (p.Pro1077Thr)
c.3226C>A (p.Pro1076Thr)
c.2935C>A (p.Pro979Thr)
 gnomAD v4
3g.38725183G>ACA2320321SCN10Ac.3219C>T (p.Val1073=)
c.3216C>T (p.Val1072=)
c.3243C>T (p.Val1081=)
c.2925C>T (p.Val975=)
c.3228C>T (p.Val1076=)
c.3225C>T (p.Val1075=)
c.2934C>T (p.Val978=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38725183G>CCA433138446SCN10Ac.3219C>G (p.Val1073=)
c.3216C>G (p.Val1072=)
c.3243C>G (p.Val1081=)
c.2925C>G (p.Val975=)
c.3228C>G (p.Val1076=)
c.3225C>G (p.Val1075=)
c.2934C>G (p.Val978=)
3g.38725183G=CA1358640552SCN10Ac.3219C= (p.Val1073=)
c.3216C= (p.Val1072=)
c.3243C= (p.Val1081=)
c.2925C= (p.Val975=)
c.3228C= (p.Val1076=)
c.3225C= (p.Val1075=)
c.2934C= (p.Val978=)
3g.38725183G>TCA433138447SCN10Ac.3219C>A (p.Val1073=)
c.3216C>A (p.Val1072=)
c.3243C>A (p.Val1081=)
c.2925C>A (p.Val975=)
c.3228C>A (p.Val1076=)
c.3225C>A (p.Val1075=)
c.2934C>A (p.Val978=)
3g.38725184delCA2665099537SCN10Ac.3218del (p.Val1073AlafsTer20)
c.3215del (p.Val1072AlafsTer20)
c.3242del (p.Val1081AlafsTer20)
c.2924del (p.Val975AlafsTer20)
c.3227del (p.Val1076AlafsTer20)
c.3224del (p.Val1075AlafsTer20)
c.2933del (p.Val978AlafsTer20)
 gnomAD v4
3g.38725184A=CA1358640553SCN10Ac.3218T= (p.Val1073=)
c.3215T= (p.Val1072=)
c.3242T= (p.Val1081=)
c.2924T= (p.Val975=)
c.3227T= (p.Val1076=)
c.3224T= (p.Val1075=)
c.2933T= (p.Val978=)
3g.38725184A>CCA352156591SCN10Ac.3218T>G (p.Val1073Gly)
c.3215T>G (p.Val1072Gly)
c.3242T>G (p.Val1081Gly)
c.2924T>G (p.Val975Gly)
c.3227T>G (p.Val1076Gly)
c.3224T>G (p.Val1075Gly)
c.2933T>G (p.Val978Gly)
 gnomAD v4
3g.38725184A>GCA2320322SCN10Ac.3218T>C (p.Val1073Ala)
c.3215T>C (p.Val1072Ala)
c.3242T>C (p.Val1081Ala)
c.2924T>C (p.Val975Ala)
c.3227T>C (p.Val1076Ala)
c.3224T>C (p.Val1075Ala)
c.2933T>C (p.Val978Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38725184A>TCA352156592SCN10Ac.3218T>A (p.Val1073Asp)
c.3215T>A (p.Val1072Asp)
c.3242T>A (p.Val1081Asp)
c.2924T>A (p.Val975Asp)
c.3227T>A (p.Val1076Asp)
c.3224T>A (p.Val1075Asp)
c.2933T>A (p.Val978Asp)
 dbSNP gnomAD v4
3g.38725184_38725185insGCA2665099574SCN10Ac.3217_3218insC (p.Val1073AlafsTer4)
c.3214_3215insC (p.Val1072AlafsTer4)
c.3241_3242insC (p.Val1081AlafsTer4)
c.2923_2924insC (p.Val975AlafsTer4)
c.3226_3227insC (p.Val1076AlafsTer4)
c.3223_3224insC (p.Val1075AlafsTer4)
c.2932_2933insC (p.Val978AlafsTer4)
 gnomAD v4
3g.38725185C>ACA352156593SCN10Ac.3217G>T (p.Val1073Phe)
c.3214G>T (p.Val1072Phe)
c.3241G>T (p.Val1081Phe)
c.2923G>T (p.Val975Phe)
c.3226G>T (p.Val1076Phe)
c.3223G>T (p.Val1075Phe)
c.2932G>T (p.Val978Phe)
 gnomAD v4
3g.38725185C=CA1358640554SCN10Ac.3217G= (p.Val1073=)
c.3214G= (p.Val1072=)
c.3241G= (p.Val1081=)
c.2923G= (p.Val975=)
c.3226G= (p.Val1076=)
c.3223G= (p.Val1075=)
c.2932G= (p.Val978=)
3g.38725185C>GCA352156594SCN10Ac.3217G>C (p.Val1073Leu)
c.3214G>C (p.Val1072Leu)
c.3241G>C (p.Val1081Leu)
c.2923G>C (p.Val975Leu)
c.3226G>C (p.Val1076Leu)
c.3223G>C (p.Val1075Leu)
c.2932G>C (p.Val978Leu)
3g.38725185C>TCA352156595SCN10Ac.3217G>A (p.Val1073Ile)
c.3214G>A (p.Val1072Ile)
c.3241G>A (p.Val1081Ile)
c.2923G>A (p.Val975Ile)
c.3226G>A (p.Val1076Ile)
c.3223G>A (p.Val1075Ile)
c.2932G>A (p.Val978Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38725185_38725186insAGTGGCGAATGCATCCTGTGGGGAGAGGGCCA2665099572SCN10Ac.3217_3218insCCCTCTCCCCACAGGATGCATTCGCCACTG (p.Gln1072_Val1073insAlaLeuSerProGlnAspAlaPheAlaThr)
c.3214_3215insCCCTCTCCCCACAGGATGCATTCGCCACTG (p.Gln1071_Val1072insAlaLeuSerProGlnAspAlaPheAlaThr)
c.3241_3242insCCCTCTCCCCACAGGATGCATTCGCCACTG (p.Gln1080_Val1081insAlaLeuSerProGlnAspAlaPheAlaThr)
c.2923_2924insCCCTCTCCCCACAGGATGCATTCGCCACTG (p.Gln974_Val975insAlaLeuSerProGlnAspAlaPheAlaThr)
c.3226_3227insCCCTCTCCCCACAGGATGCATTCGCCACTG (p.Gln1075_Val1076insAlaLeuSerProGlnAspAlaPheAlaThr)
c.3223_3224insCCCTCTCCCCACAGGATGCATTCGCCACTG (p.Gln1074_Val1075insAlaLeuSerProGlnAspAlaPheAlaThr)
c.2932_2933insCCCTCTCCCCACAGGATGCATTCGCCACTG (p.Gln977_Val978insAlaLeuSerProGlnAspAlaPheAlaThr)
 gnomAD v4
3g.38725186C>ACA352156596SCN10Ac.3216G>T (p.Gln1072His)
c.3213G>T (p.Gln1071His)
c.3240G>T (p.Gln1080His)
c.2922G>T (p.Gln974His)
c.3225G>T (p.Gln1075His)
c.3222G>T (p.Gln1074His)
c.2931G>T (p.Gln977His)
3g.38725186C=CA1358640555SCN10Ac.3216G= (p.Gln1072=)
c.3213G= (p.Gln1071=)
c.3240G= (p.Gln1080=)
c.2922G= (p.Gln974=)
c.3225G= (p.Gln1075=)
c.3222G= (p.Gln1074=)
c.2931G= (p.Gln977=)
3g.38725186C>GCA352156597SCN10Ac.3216G>C (p.Gln1072His)
c.3213G>C (p.Gln1071His)
c.3240G>C (p.Gln1080His)
c.2922G>C (p.Gln974His)
c.3225G>C (p.Gln1075His)
c.3222G>C (p.Gln1074His)
c.2931G>C (p.Gln977His)
3g.38725186C>TCA433138451SCN10Ac.3216G>A (p.Gln1072=)
c.3213G>A (p.Gln1071=)
c.3240G>A (p.Gln1080=)
c.2922G>A (p.Gln974=)
c.3225G>A (p.Gln1075=)
c.3222G>A (p.Gln1074=)
c.2931G>A (p.Gln977=)
 dbSNP gnomAD v2 gnomAD v4
3g.38725187T>ACA352156598SCN10Ac.3215A>T (p.Gln1072Leu)
c.3212A>T (p.Gln1071Leu)
c.3239A>T (p.Gln1080Leu)
c.2921A>T (p.Gln974Leu)
c.3224A>T (p.Gln1075Leu)
c.3221A>T (p.Gln1074Leu)
c.2930A>T (p.Gln977Leu)
3g.38725187T>CCA352156599SCN10Ac.3215A>G (p.Gln1072Arg)
c.3212A>G (p.Gln1071Arg)
c.3239A>G (p.Gln1080Arg)
c.2921A>G (p.Gln974Arg)
c.3224A>G (p.Gln1075Arg)
c.3221A>G (p.Gln1074Arg)
c.2930A>G (p.Gln977Arg)
 gnomAD v4
3g.38725187T>GCA352156600SCN10Ac.3215A>C (p.Gln1072Pro)
c.3212A>C (p.Gln1071Pro)
c.3239A>C (p.Gln1080Pro)
c.2921A>C (p.Gln974Pro)
c.3224A>C (p.Gln1075Pro)
c.3221A>C (p.Gln1074Pro)
c.2930A>C (p.Gln977Pro)
3g.38725188G>ACA352156603SCN10Ac.3214C>T (p.Gln1072Ter)
c.3211C>T (p.Gln1071Ter)
c.3238C>T (p.Gln1080Ter)
c.2920C>T (p.Gln974Ter)
c.3223C>T (p.Gln1075Ter)
c.3220C>T (p.Gln1074Ter)
c.2929C>T (p.Gln977Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38725188G>CCA352156602SCN10Ac.3214C>G (p.Gln1072Glu)
c.3211C>G (p.Gln1071Glu)
c.3238C>G (p.Gln1080Glu)
c.2920C>G (p.Gln974Glu)
c.3223C>G (p.Gln1075Glu)
c.3220C>G (p.Gln1074Glu)
c.2929C>G (p.Gln977Glu)
 ClinVar
3g.38725188G=CA1358640556SCN10Ac.3214C= (p.Gln1072=)
c.3211C= (p.Gln1071=)
c.3238C= (p.Gln1080=)
c.2920C= (p.Gln974=)
c.3223C= (p.Gln1075=)
c.3220C= (p.Gln1074=)
c.2929C= (p.Gln977=)
3g.38725188G>TCA352156601SCN10Ac.3214C>A (p.Gln1072Lys)
c.3211C>A (p.Gln1071Lys)
c.3238C>A (p.Gln1080Lys)
c.2920C>A (p.Gln974Lys)
c.3223C>A (p.Gln1075Lys)
c.3220C>A (p.Gln1074Lys)
c.2929C>A (p.Gln977Lys)
3g.38725189A>CCA433138456SCN10Ac.3213T>G (p.Pro1071=)
c.3210T>G (p.Pro1070=)
c.3237T>G (p.Pro1079=)
c.2919T>G (p.Pro973=)
c.3222T>G (p.Pro1074=)
c.3219T>G (p.Pro1073=)
c.2928T>G (p.Pro976=)
3g.38725189A>GCA433138457SCN10Ac.3213T>C (p.Pro1071=)
c.3210T>C (p.Pro1070=)
c.3237T>C (p.Pro1079=)
c.2919T>C (p.Pro973=)
c.3222T>C (p.Pro1074=)
c.3219T>C (p.Pro1073=)
c.2928T>C (p.Pro976=)
3g.38725189A>TCA433138458SCN10Ac.3213T>A (p.Pro1071=)
c.3210T>A (p.Pro1070=)
c.3237T>A (p.Pro1079=)
c.2919T>A (p.Pro973=)
c.3222T>A (p.Pro1074=)
c.3219T>A (p.Pro1073=)
c.2928T>A (p.Pro976=)
3g.38725190G>ACA352156604SCN10Ac.3212C>T (p.Pro1071Leu)
c.3209C>T (p.Pro1070Leu)
c.3236C>T (p.Pro1079Leu)
c.2918C>T (p.Pro973Leu)
c.3221C>T (p.Pro1074Leu)
c.3218C>T (p.Pro1073Leu)
c.2927C>T (p.Pro976Leu)
3g.38725190G>CCA352156605SCN10Ac.3212C>G (p.Pro1071Arg)
c.3209C>G (p.Pro1070Arg)
c.3236C>G (p.Pro1079Arg)
c.2918C>G (p.Pro973Arg)
c.3221C>G (p.Pro1074Arg)
c.3218C>G (p.Pro1073Arg)
c.2927C>G (p.Pro976Arg)
3g.38725190G>TCA352156606SCN10Ac.3212C>A (p.Pro1071His)
c.3209C>A (p.Pro1070His)
c.3236C>A (p.Pro1079His)
c.2918C>A (p.Pro973His)
c.3221C>A (p.Pro1074His)
c.3218C>A (p.Pro1073His)
c.2927C>A (p.Pro976His)
3g.38725191G>ACA352156607SCN10Ac.3211C>T (p.Pro1071Ser)
c.3208C>T (p.Pro1070Ser)
c.3235C>T (p.Pro1079Ser)
c.2917C>T (p.Pro973Ser)
c.3220C>T (p.Pro1074Ser)
c.3217C>T (p.Pro1073Ser)
c.2926C>T (p.Pro976Ser)
 COSMIC
3g.38725191G>CCA352156608SCN10Ac.3211C>G (p.Pro1071Ala)
c.3208C>G (p.Pro1070Ala)
c.3235C>G (p.Pro1079Ala)
c.2917C>G (p.Pro973Ala)
c.3220C>G (p.Pro1074Ala)
c.3217C>G (p.Pro1073Ala)
c.2926C>G (p.Pro976Ala)
3g.38725191G>TCA352156609SCN10Ac.3211C>A (p.Pro1071Thr)
c.3208C>A (p.Pro1070Thr)
c.3235C>A (p.Pro1079Thr)
c.2917C>A (p.Pro973Thr)
c.3220C>A (p.Pro1074Thr)
c.3217C>A (p.Pro1073Thr)
c.2926C>A (p.Pro976Thr)
3g.38725192A>CCA433138463SCN10Ac.3210T>G (p.Val1070=)
c.3207T>G (p.Val1069=)
c.3234T>G (p.Val1078=)
c.2916T>G (p.Val972=)
c.3219T>G (p.Val1073=)
c.3216T>G (p.Val1072=)
c.2925T>G (p.Val975=)
3g.38725192A>GCA433138464SCN10Ac.3210T>C (p.Val1070=)
c.3207T>C (p.Val1069=)
c.3234T>C (p.Val1078=)
c.2916T>C (p.Val972=)
c.3219T>C (p.Val1073=)
c.3216T>C (p.Val1072=)
c.2925T>C (p.Val975=)
 gnomAD v4
3g.38725192A>TCA433138465SCN10Ac.3210T>A (p.Val1070=)
c.3207T>A (p.Val1069=)
c.3234T>A (p.Val1078=)
c.2916T>A (p.Val972=)
c.3219T>A (p.Val1073=)
c.3216T>A (p.Val1072=)
c.2925T>A (p.Val975=)
3g.38725193A=CA1358640557SCN10Ac.3209T= (p.Val1070=)
c.3206T= (p.Val1069=)
c.3233T= (p.Val1078=)
c.2915T= (p.Val972=)
c.3218T= (p.Val1073=)
c.3215T= (p.Val1072=)
c.2924T= (p.Val975=)
3g.38725193A>CCA352156610SCN10Ac.3209T>G (p.Val1070Gly)
c.3206T>G (p.Val1069Gly)
c.3233T>G (p.Val1078Gly)
c.2915T>G (p.Val972Gly)
c.3218T>G (p.Val1073Gly)
c.3215T>G (p.Val1072Gly)
c.2924T>G (p.Val975Gly)
3g.38725193A>GCA352156611SCN10Ac.3209T>C (p.Val1070Ala)
c.3206T>C (p.Val1069Ala)
c.3233T>C (p.Val1078Ala)
c.2915T>C (p.Val972Ala)
c.3218T>C (p.Val1073Ala)
c.3215T>C (p.Val1072Ala)
c.2924T>C (p.Val975Ala)
3g.38725193A>TCA352156612SCN10Ac.3209T>A (p.Val1070Asp)
c.3206T>A (p.Val1069Asp)
c.3233T>A (p.Val1078Asp)
c.2915T>A (p.Val972Asp)
c.3218T>A (p.Val1073Asp)
c.3215T>A (p.Val1072Asp)
c.2924T>A (p.Val975Asp)
 dbSNP gnomAD v2
3g.38725194C>ACA352156613SCN10Ac.3208G>T (p.Val1070Phe)
c.3205G>T (p.Val1069Phe)
c.3232G>T (p.Val1078Phe)
c.2914G>T (p.Val972Phe)
c.3217G>T (p.Val1073Phe)
c.3214G>T (p.Val1072Phe)
c.2923G>T (p.Val975Phe)
 dbSNP gnomAD v2
3g.38725194C=CA1358640558SCN10Ac.3208G= (p.Val1070=)
c.3205G= (p.Val1069=)
c.3232G= (p.Val1078=)
c.2914G= (p.Val972=)
c.3217G= (p.Val1073=)
c.3214G= (p.Val1072=)
c.2923G= (p.Val975=)
3g.38725194C>GCA2320323SCN10Ac.3208G>C (p.Val1070Leu)
c.3205G>C (p.Val1069Leu)
c.3232G>C (p.Val1078Leu)
c.2914G>C (p.Val972Leu)
c.3217G>C (p.Val1073Leu)
c.3214G>C (p.Val1072Leu)
c.2923G>C (p.Val975Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38725194C>TCA352156614SCN10Ac.3208G>A (p.Val1070Ile)
c.3205G>A (p.Val1069Ile)
c.3232G>A (p.Val1078Ile)
c.2914G>A (p.Val972Ile)
c.3217G>A (p.Val1073Ile)
c.3214G>A (p.Val1072Ile)
c.2923G>A (p.Val975Ile)
 gnomAD v4
3g.38725195A>CCA433138467SCN10Ac.3207T>G (p.Ser1069=)
c.3204T>G (p.Ser1068=)
c.3231T>G (p.Ser1077=)
c.2913T>G (p.Ser971=)
c.3216T>G (p.Ser1072=)
c.3213T>G (p.Ser1071=)
c.2922T>G (p.Ser974=)
3g.38725195A>GCA433138469SCN10Ac.3207T>C (p.Ser1069=)
c.3204T>C (p.Ser1068=)
c.3231T>C (p.Ser1077=)
c.2913T>C (p.Ser971=)
c.3216T>C (p.Ser1072=)
c.3213T>C (p.Ser1071=)
c.2922T>C (p.Ser974=)
3g.38725195A>TCA433138471SCN10Ac.3207T>A (p.Ser1069=)
c.3204T>A (p.Ser1068=)
c.3231T>A (p.Ser1077=)
c.2913T>A (p.Ser971=)
c.3216T>A (p.Ser1072=)
c.3213T>A (p.Ser1071=)
c.2922T>A (p.Ser974=)
3g.38725196G>ACA352156617SCN10Ac.3206C>T (p.Ser1069Phe)
c.3203C>T (p.Ser1068Phe)
c.3230C>T (p.Ser1077Phe)
c.2912C>T (p.Ser971Phe)
c.3215C>T (p.Ser1072Phe)
c.3212C>T (p.Ser1071Phe)
c.2921C>T (p.Ser974Phe)
 gnomAD v4
3g.38725196G>CCA352156615SCN10Ac.3206C>G (p.Ser1069Cys)
c.3203C>G (p.Ser1068Cys)
c.3230C>G (p.Ser1077Cys)
c.2912C>G (p.Ser971Cys)
c.3215C>G (p.Ser1072Cys)
c.3212C>G (p.Ser1071Cys)
c.2921C>G (p.Ser974Cys)
3g.38725196G>TCA352156616SCN10Ac.3206C>A (p.Ser1069Tyr)
c.3203C>A (p.Ser1068Tyr)
c.3230C>A (p.Ser1077Tyr)
c.2912C>A (p.Ser971Tyr)
c.3215C>A (p.Ser1072Tyr)
c.3212C>A (p.Ser1071Tyr)
c.2921C>A (p.Ser974Tyr)
3g.38725197A>CCA352156618SCN10Ac.3205T>G (p.Ser1069Ala)
c.3202T>G (p.Ser1068Ala)
c.3229T>G (p.Ser1077Ala)
c.2911T>G (p.Ser971Ala)
c.3214T>G (p.Ser1072Ala)
c.3211T>G (p.Ser1071Ala)
c.2920T>G (p.Ser974Ala)
3g.38725197A>GCA352156619SCN10Ac.3205T>C (p.Ser1069Pro)
c.3202T>C (p.Ser1068Pro)
c.3229T>C (p.Ser1077Pro)
c.2911T>C (p.Ser971Pro)
c.3214T>C (p.Ser1072Pro)
c.3211T>C (p.Ser1071Pro)
c.2920T>C (p.Ser974Pro)
3g.38725197A>TCA352156620SCN10Ac.3205T>A (p.Ser1069Thr)
c.3202T>A (p.Ser1068Thr)
c.3229T>A (p.Ser1077Thr)
c.2911T>A (p.Ser971Thr)
c.3214T>A (p.Ser1072Thr)
c.3211T>A (p.Ser1071Thr)
c.2920T>A (p.Ser974Thr)
3g.38725198C>ACA352156621SCN10Ac.3204G>T (p.Glu1068Asp)
c.3201G>T (p.Glu1067Asp)
c.3228G>T (p.Glu1076Asp)
c.2910G>T (p.Glu970Asp)
c.3213G>T (p.Glu1071Asp)
c.3210G>T (p.Glu1070Asp)
c.2919G>T (p.Glu973Asp)
3g.38725198C>GCA352156622SCN10Ac.3204G>C (p.Glu1068Asp)
c.3201G>C (p.Glu1067Asp)
c.3228G>C (p.Glu1076Asp)
c.2910G>C (p.Glu970Asp)
c.3213G>C (p.Glu1071Asp)
c.3210G>C (p.Glu1070Asp)
c.2919G>C (p.Glu973Asp)
3g.38725198C>TCA433138473SCN10Ac.3204G>A (p.Glu1068=)
c.3201G>A (p.Glu1067=)
c.3228G>A (p.Glu1076=)
c.2910G>A (p.Glu970=)
c.3213G>A (p.Glu1071=)
c.3210G>A (p.Glu1070=)
c.2919G>A (p.Glu973=)
 gnomAD v4 COSMIC
3g.38725199T>ACA352156623SCN10Ac.3203A>T (p.Glu1068Val)
c.3200A>T (p.Glu1067Val)
c.3227A>T (p.Glu1076Val)
c.2909A>T (p.Glu970Val)
c.3212A>T (p.Glu1071Val)
c.3209A>T (p.Glu1070Val)
c.2918A>T (p.Glu973Val)
3g.38725199T>CCA352156624SCN10Ac.3203A>G (p.Glu1068Gly)
c.3200A>G (p.Glu1067Gly)
c.3227A>G (p.Glu1076Gly)
c.2909A>G (p.Glu970Gly)
c.3212A>G (p.Glu1071Gly)
c.3209A>G (p.Glu1070Gly)
c.2918A>G (p.Glu973Gly)
3g.38725199T>GCA352156625SCN10Ac.3203A>C (p.Glu1068Ala)
c.3200A>C (p.Glu1067Ala)
c.3227A>C (p.Glu1076Ala)
c.2909A>C (p.Glu970Ala)
c.3212A>C (p.Glu1071Ala)
c.3209A>C (p.Glu1070Ala)
c.2918A>C (p.Glu973Ala)
3g.38725200C>ACA352156626SCN10Ac.3202G>T (p.Glu1068Ter)
c.3199G>T (p.Glu1067Ter)
c.3226G>T (p.Glu1076Ter)
c.2908G>T (p.Glu970Ter)
c.3211G>T (p.Glu1071Ter)
c.3208G>T (p.Glu1070Ter)
c.2917G>T (p.Glu973Ter)
3g.38725200C>GCA352156627SCN10Ac.3202G>C (p.Glu1068Gln)
c.3199G>C (p.Glu1067Gln)
c.3226G>C (p.Glu1076Gln)
c.2908G>C (p.Glu970Gln)
c.3211G>C (p.Glu1071Gln)
c.3208G>C (p.Glu1070Gln)
c.2917G>C (p.Glu973Gln)
3g.38725200C>TCA352156628SCN10Ac.3202G>A (p.Glu1068Lys)
c.3199G>A (p.Glu1067Lys)
c.3226G>A (p.Glu1076Lys)
c.2908G>A (p.Glu970Lys)
c.3211G>A (p.Glu1071Lys)
c.3208G>A (p.Glu1070Lys)
c.2917G>A (p.Glu973Lys)
3g.38725200_38725201delCA2531982850SCN10Ac.3201_3202del (p.Asp1067GlufsTer9)
c.3198_3199del (p.Asp1066GlufsTer9)
c.3225_3226del (p.Asp1075GlufsTer9)
c.2907_2908del (p.Asp969GlufsTer9)
c.3210_3211del (p.Asp1070GlufsTer9)
c.3207_3208del (p.Asp1069GlufsTer9)
c.2916_2917del (p.Asp972GlufsTer9)
3g.38725201A>CCA352156629SCN10Ac.3201T>G (p.Asp1067Glu)
c.3198T>G (p.Asp1066Glu)
c.3225T>G (p.Asp1075Glu)
c.2907T>G (p.Asp969Glu)
c.3210T>G (p.Asp1070Glu)
c.3207T>G (p.Asp1069Glu)
c.2916T>G (p.Asp972Glu)
 gnomAD v4
3g.38725201A>GCA433138475SCN10Ac.3201T>C (p.Asp1067=)
c.3198T>C (p.Asp1066=)
c.3225T>C (p.Asp1075=)
c.2907T>C (p.Asp969=)
c.3210T>C (p.Asp1070=)
c.3207T>C (p.Asp1069=)
c.2916T>C (p.Asp972=)
 gnomAD v4
3g.38725201A>TCA352156630SCN10Ac.3201T>A (p.Asp1067Glu)
c.3198T>A (p.Asp1066Glu)
c.3225T>A (p.Asp1075Glu)
c.2907T>A (p.Asp969Glu)
c.3210T>A (p.Asp1070Glu)
c.3207T>A (p.Asp1069Glu)
c.2916T>A (p.Asp972Glu)
 ClinVar
3g.38725202T>ACA352156633SCN10Ac.3200A>T (p.Asp1067Val)
c.3197A>T (p.Asp1066Val)
c.3224A>T (p.Asp1075Val)
c.2906A>T (p.Asp969Val)
c.3209A>T (p.Asp1070Val)
c.3206A>T (p.Asp1069Val)
c.2915A>T (p.Asp972Val)
 COSMIC
3g.38725202T>CCA352156632SCN10Ac.3200A>G (p.Asp1067Gly)
c.3197A>G (p.Asp1066Gly)
c.3224A>G (p.Asp1075Gly)
c.2906A>G (p.Asp969Gly)
c.3209A>G (p.Asp1070Gly)
c.3206A>G (p.Asp1069Gly)
c.2915A>G (p.Asp972Gly)
 dbSNP gnomAD v4
3g.38725202T>GCA352156631SCN10Ac.3200A>C (p.Asp1067Ala)
c.3197A>C (p.Asp1066Ala)
c.3224A>C (p.Asp1075Ala)
c.2906A>C (p.Asp969Ala)
c.3209A>C (p.Asp1070Ala)
c.3206A>C (p.Asp1069Ala)
c.2915A>C (p.Asp972Ala)
3g.38725202T=CA1358640559SCN10Ac.3200A= (p.Asp1067=)
c.3197A= (p.Asp1066=)
c.3224A= (p.Asp1075=)
c.2906A= (p.Asp969=)
c.3209A= (p.Asp1070=)
c.3206A= (p.Asp1069=)
c.2915A= (p.Asp972=)
3g.38725202_38725203insGGCA2542929865SCN10Ac.3199_3200insCC (p.Asp1067AlafsTer27)
c.3196_3197insCC (p.Asp1066AlafsTer27)
c.3223_3224insCC (p.Asp1075AlafsTer27)
c.2905_2906insCC (p.Asp969AlafsTer27)
c.3208_3209insCC (p.Asp1070AlafsTer27)
c.3205_3206insCC (p.Asp1069AlafsTer27)
c.2914_2915insCC (p.Asp972AlafsTer27)
3g.38725203C>ACA352156634SCN10Ac.3199G>T (p.Asp1067Tyr)
c.3196G>T (p.Asp1066Tyr)
c.3223G>T (p.Asp1075Tyr)
c.2905G>T (p.Asp969Tyr)
c.3208G>T (p.Asp1070Tyr)
c.3205G>T (p.Asp1069Tyr)
c.2914G>T (p.Asp972Tyr)
 gnomAD v4
3g.38725203C>GCA352156635SCN10Ac.3199G>C (p.Asp1067His)
c.3196G>C (p.Asp1066His)
c.3223G>C (p.Asp1075His)
c.2905G>C (p.Asp969His)
c.3208G>C (p.Asp1070His)
c.3205G>C (p.Asp1069His)
c.2914G>C (p.Asp972His)
 COSMIC
3g.38725203C>TCA352156636SCN10Ac.3199G>A (p.Asp1067Asn)
c.3196G>A (p.Asp1066Asn)
c.3223G>A (p.Asp1075Asn)
c.2905G>A (p.Asp969Asn)
c.3208G>A (p.Asp1070Asn)
c.3205G>A (p.Asp1069Asn)
c.2914G>A (p.Asp972Asn)
 COSMIC
3g.38725204T>ACA352156637SCN10Ac.3198A>T (p.Lys1066Asn)
c.3195A>T (p.Lys1065Asn)
c.3222A>T (p.Lys1074Asn)
c.2904A>T (p.Lys968Asn)
c.3207A>T (p.Lys1069Asn)
c.3204A>T (p.Lys1068Asn)
c.2913A>T (p.Lys971Asn)
3g.38725204T>CCA433138480SCN10Ac.3198A>G (p.Lys1066=)
c.3195A>G (p.Lys1065=)
c.3222A>G (p.Lys1074=)
c.2904A>G (p.Lys968=)
c.3207A>G (p.Lys1069=)
c.3204A>G (p.Lys1068=)
c.2913A>G (p.Lys971=)
3g.38725204T>GCA352156638SCN10Ac.3198A>C (p.Lys1066Asn)
c.3195A>C (p.Lys1065Asn)
c.3222A>C (p.Lys1074Asn)
c.2904A>C (p.Lys968Asn)
c.3207A>C (p.Lys1069Asn)
c.3204A>C (p.Lys1068Asn)
c.2913A>C (p.Lys971Asn)
3g.38725206dupCA2665099632SCN10Ac.3198dup (p.Asp1067ArgfsTer2)
c.3195dup (p.Asp1066ArgfsTer2)
c.3222dup (p.Asp1075ArgfsTer2)
c.2904dup (p.Asp969ArgfsTer2)
c.3207dup (p.Asp1070ArgfsTer2)
c.3204dup (p.Asp1069ArgfsTer2)
c.2913dup (p.Asp972ArgfsTer2)
 gnomAD v4
3g.38725205T>ACA352156639SCN10Ac.3197A>T (p.Lys1066Ile)
c.3194A>T (p.Lys1065Ile)
c.3221A>T (p.Lys1074Ile)
c.2903A>T (p.Lys968Ile)
c.3206A>T (p.Lys1069Ile)
c.3203A>T (p.Lys1068Ile)
c.2912A>T (p.Lys971Ile)
3g.38725205T>CCA352156640SCN10Ac.3197A>G (p.Lys1066Arg)
c.3194A>G (p.Lys1065Arg)
c.3221A>G (p.Lys1074Arg)
c.2903A>G (p.Lys968Arg)
c.3206A>G (p.Lys1069Arg)
c.3203A>G (p.Lys1068Arg)
c.2912A>G (p.Lys971Arg)
3g.38725205T>GCA352156641SCN10Ac.3197A>C (p.Lys1066Thr)
c.3194A>C (p.Lys1065Thr)
c.3221A>C (p.Lys1074Thr)
c.2903A>C (p.Lys968Thr)
c.3206A>C (p.Lys1069Thr)
c.3203A>C (p.Lys1068Thr)
c.2912A>C (p.Lys971Thr)
3g.38725206T>ACA352156642SCN10Ac.3196A>T (p.Lys1066Ter)
c.3193A>T (p.Lys1065Ter)
c.3220A>T (p.Lys1074Ter)
c.2902A>T (p.Lys968Ter)
c.3205A>T (p.Lys1069Ter)
c.3202A>T (p.Lys1068Ter)
c.2911A>T (p.Lys971Ter)
3g.38725206T>CCA352156643SCN10Ac.3196A>G (p.Lys1066Glu)
c.3193A>G (p.Lys1065Glu)
c.3220A>G (p.Lys1074Glu)
c.2902A>G (p.Lys968Glu)
c.3205A>G (p.Lys1069Glu)
c.3202A>G (p.Lys1068Glu)
c.2911A>G (p.Lys971Glu)
3g.38725206T>GCA352156644SCN10Ac.3196A>C (p.Lys1066Gln)
c.3193A>C (p.Lys1065Gln)
c.3220A>C (p.Lys1074Gln)
c.2902A>C (p.Lys968Gln)
c.3205A>C (p.Lys1069Gln)
c.3202A>C (p.Lys1068Gln)
c.2911A>C (p.Lys971Gln)
3g.38725207C>ACA352156645SCN10Ac.3195G>T (p.Trp1065Cys)
c.3192G>T (p.Trp1064Cys)
c.3219G>T (p.Trp1073Cys)
c.2901G>T (p.Trp967Cys)
c.3204G>T (p.Trp1068Cys)
c.3201G>T (p.Trp1067Cys)
c.2910G>T (p.Trp970Cys)
3g.38725207C>GCA352156646SCN10Ac.3195G>C (p.Trp1065Cys)
c.3192G>C (p.Trp1064Cys)
c.3219G>C (p.Trp1073Cys)
c.2901G>C (p.Trp967Cys)
c.3204G>C (p.Trp1068Cys)
c.3201G>C (p.Trp1067Cys)
c.2910G>C (p.Trp970Cys)
3g.38725207C>TCA352156647SCN10Ac.3195G>A (p.Trp1065Ter)
c.3192G>A (p.Trp1064Ter)
c.3219G>A (p.Trp1073Ter)
c.2901G>A (p.Trp967Ter)
c.3204G>A (p.Trp1068Ter)
c.3201G>A (p.Trp1067Ter)
c.2910G>A (p.Trp970Ter)
3g.38725208delCA2665099633SCN10Ac.3195del (p.Trp1065Ter)
c.3192del (p.Trp1064Ter)
c.3219del (p.Trp1073Ter)
c.2901del (p.Trp967Ter)
c.3204del (p.Trp1068Ter)
c.3201del (p.Trp1067Ter)
c.2910del (p.Trp970Ter)
 gnomAD v4
3g.38725208C>ACA352156650SCN10Ac.3194G>T (p.Trp1065Leu)
c.3191G>T (p.Trp1064Leu)
c.3218G>T (p.Trp1073Leu)
c.2900G>T (p.Trp967Leu)
c.3203G>T (p.Trp1068Leu)
c.3200G>T (p.Trp1067Leu)
c.2909G>T (p.Trp970Leu)
3g.38725208C=CA1358640560SCN10Ac.3194G= (p.Trp1065=)
c.3191G= (p.Trp1064=)
c.3218G= (p.Trp1073=)
c.2900G= (p.Trp967=)
c.3203G= (p.Trp1068=)
c.3200G= (p.Trp1067=)
c.2909G= (p.Trp970=)
3g.38725208C>GCA352156649SCN10Ac.3194G>C (p.Trp1065Ser)
c.3191G>C (p.Trp1064Ser)
c.3218G>C (p.Trp1073Ser)
c.2900G>C (p.Trp967Ser)
c.3203G>C (p.Trp1068Ser)
c.3200G>C (p.Trp1067Ser)
c.2909G>C (p.Trp970Ser)
3g.38725208C>TCA352156648SCN10Ac.3194G>A (p.Trp1065Ter)
c.3191G>A (p.Trp1064Ter)
c.3218G>A (p.Trp1073Ter)
c.2900G>A (p.Trp967Ter)
c.3203G>A (p.Trp1068Ter)
c.3200G>A (p.Trp1067Ter)
c.2909G>A (p.Trp970Ter)
 dbSNP
3g.38725209A>CCA352156651SCN10Ac.3193T>G (p.Trp1065Gly)
c.3190T>G (p.Trp1064Gly)
c.3217T>G (p.Trp1073Gly)
c.2899T>G (p.Trp967Gly)
c.3202T>G (p.Trp1068Gly)
c.3199T>G (p.Trp1067Gly)
c.2908T>G (p.Trp970Gly)
 COSMIC
3g.38725209A>GCA352156652SCN10Ac.3193T>C (p.Trp1065Arg)
c.3190T>C (p.Trp1064Arg)
c.3217T>C (p.Trp1073Arg)
c.2899T>C (p.Trp967Arg)
c.3202T>C (p.Trp1068Arg)
c.3199T>C (p.Trp1067Arg)
c.2908T>C (p.Trp970Arg)
 gnomAD v4
3g.38725209A>TCA352156653SCN10Ac.3193T>A (p.Trp1065Arg)
c.3190T>A (p.Trp1064Arg)
c.3217T>A (p.Trp1073Arg)
c.2899T>A (p.Trp967Arg)
c.3202T>A (p.Trp1068Arg)
c.3199T>A (p.Trp1067Arg)
c.2908T>A (p.Trp970Arg)
3g.38725210C>ACA433138484SCN10Ac.3192G>T (p.Thr1064=)
c.3189G>T (p.Thr1063=)
c.3216G>T (p.Thr1072=)
c.2898G>T (p.Thr966=)
c.3201G>T (p.Thr1067=)
c.3198G>T (p.Thr1066=)
c.2907G>T (p.Thr969=)
3g.38725210C=CA1358640561SCN10Ac.3192G= (p.Thr1064=)
c.3189G= (p.Thr1063=)
c.3216G= (p.Thr1072=)
c.2898G= (p.Thr966=)
c.3201G= (p.Thr1067=)
c.3198G= (p.Thr1066=)
c.2907G= (p.Thr969=)
3g.38725210C>GCA433138485SCN10Ac.3192G>C (p.Thr1064=)
c.3189G>C (p.Thr1063=)
c.3216G>C (p.Thr1072=)
c.2898G>C (p.Thr966=)
c.3201G>C (p.Thr1067=)
c.3198G>C (p.Thr1066=)
c.2907G>C (p.Thr969=)
 dbSNP gnomAD v4
3g.38725210C>TCA2320324SCN10Ac.3192G>A (p.Thr1064=)
c.3189G>A (p.Thr1063=)
c.3216G>A (p.Thr1072=)
c.2898G>A (p.Thr966=)
c.3201G>A (p.Thr1067=)
c.3198G>A (p.Thr1066=)
c.2907G>A (p.Thr969=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38725211G>ACA2320325SCN10Ac.3191C>T (p.Thr1064Met)
c.3188C>T (p.Thr1063Met)
c.3215C>T (p.Thr1072Met)
c.2897C>T (p.Thr966Met)
c.3200C>T (p.Thr1067Met)
c.3197C>T (p.Thr1066Met)
c.2906C>T (p.Thr969Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38725211G>CCA352156654SCN10Ac.3191C>G (p.Thr1064Arg)
c.3188C>G (p.Thr1063Arg)
c.3215C>G (p.Thr1072Arg)
c.2897C>G (p.Thr966Arg)
c.3200C>G (p.Thr1067Arg)
c.3197C>G (p.Thr1066Arg)
c.2906C>G (p.Thr969Arg)
 gnomAD v4
3g.38725211G=CA1358640562SCN10Ac.3191C= (p.Thr1064=)
c.3188C= (p.Thr1063=)
c.3215C= (p.Thr1072=)
c.2897C= (p.Thr966=)
c.3200C= (p.Thr1067=)
c.3197C= (p.Thr1066=)
c.2906C= (p.Thr969=)
3g.38725211G>TCA352156655SCN10Ac.3191C>A (p.Thr1064Lys)
c.3188C>A (p.Thr1063Lys)
c.3215C>A (p.Thr1072Lys)
c.2897C>A (p.Thr966Lys)
c.3200C>A (p.Thr1067Lys)
c.3197C>A (p.Thr1066Lys)
c.2906C>A (p.Thr969Lys)
 dbSNP gnomAD v4 COSMIC
3g.38725212T>ACA352156658SCN10Ac.3190A>T (p.Thr1064Ser)
c.3187A>T (p.Thr1063Ser)
c.3214A>T (p.Thr1072Ser)
c.2896A>T (p.Thr966Ser)
c.3199A>T (p.Thr1067Ser)
c.3196A>T (p.Thr1066Ser)
c.2905A>T (p.Thr969Ser)
3g.38725212T>CCA352156656SCN10Ac.3190A>G (p.Thr1064Ala)
c.3187A>G (p.Thr1063Ala)
c.3214A>G (p.Thr1072Ala)
c.2896A>G (p.Thr966Ala)
c.3199A>G (p.Thr1067Ala)
c.3196A>G (p.Thr1066Ala)
c.2905A>G (p.Thr969Ala)
3g.38725212T>GCA352156657SCN10Ac.3190A>C (p.Thr1064Pro)
c.3187A>C (p.Thr1063Pro)
c.3214A>C (p.Thr1072Pro)
c.2896A>C (p.Thr966Pro)
c.3199A>C (p.Thr1067Pro)
c.3196A>C (p.Thr1066Pro)
c.2905A>C (p.Thr969Pro)
3g.38725213C>ACA352156659SCN10Ac.3189G>T (p.Glu1063Asp)
c.3186G>T (p.Glu1062Asp)
c.3213G>T (p.Glu1071Asp)
c.2895G>T (p.Glu965Asp)
c.3198G>T (p.Glu1066Asp)
c.3195G>T (p.Glu1065Asp)
c.2904G>T (p.Glu968Asp)
3g.38725213C>GCA352156660SCN10Ac.3189G>C (p.Glu1063Asp)
c.3186G>C (p.Glu1062Asp)
c.3213G>C (p.Glu1071Asp)
c.2895G>C (p.Glu965Asp)
c.3198G>C (p.Glu1066Asp)
c.3195G>C (p.Glu1065Asp)
c.2904G>C (p.Glu968Asp)
3g.38725213C>TCA433138486SCN10Ac.3189G>A (p.Glu1063=)
c.3186G>A (p.Glu1062=)
c.3213G>A (p.Glu1071=)
c.2895G>A (p.Glu965=)
c.3198G>A (p.Glu1066=)
c.3195G>A (p.Glu1065=)
c.2904G>A (p.Glu968=)
 gnomAD v4
3g.38725214T>ACA2320326SCN10Ac.3188A>T (p.Glu1063Val)
c.3185A>T (p.Glu1062Val)
c.3212A>T (p.Glu1071Val)
c.2894A>T (p.Glu965Val)
c.3197A>T (p.Glu1066Val)
c.3194A>T (p.Glu1065Val)
c.2903A>T (p.Glu968Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38725214T>CCA352156661SCN10Ac.3188A>G (p.Glu1063Gly)
c.3185A>G (p.Glu1062Gly)
c.3212A>G (p.Glu1071Gly)
c.2894A>G (p.Glu965Gly)
c.3197A>G (p.Glu1066Gly)
c.3194A>G (p.Glu1065Gly)
c.2903A>G (p.Glu968Gly)
3g.38725214T>GCA352156662SCN10Ac.3188A>C (p.Glu1063Ala)
c.3185A>C (p.Glu1062Ala)
c.3212A>C (p.Glu1071Ala)
c.2894A>C (p.Glu965Ala)
c.3197A>C (p.Glu1066Ala)
c.3194A>C (p.Glu1065Ala)
c.2903A>C (p.Glu968Ala)
3g.38725214T=CA1358640563SCN10Ac.3188A= (p.Glu1063=)
c.3185A= (p.Glu1062=)
c.3212A= (p.Glu1071=)
c.2894A= (p.Glu965=)
c.3197A= (p.Glu1066=)
c.3194A= (p.Glu1065=)
c.2903A= (p.Glu968=)
3g.38725215C>ACA352156663SCN10Ac.3187G>T (p.Glu1063Ter)
c.3184G>T (p.Glu1062Ter)
c.3211G>T (p.Glu1071Ter)
c.2893G>T (p.Glu965Ter)
c.3196G>T (p.Glu1066Ter)
c.3193G>T (p.Glu1065Ter)
c.2902G>T (p.Glu968Ter)
3g.38725215C=CA1358640564SCN10Ac.3187G= (p.Glu1063=)
c.3184G= (p.Glu1062=)
c.3211G= (p.Glu1071=)
c.2893G= (p.Glu965=)
c.3196G= (p.Glu1066=)
c.3193G= (p.Glu1065=)
c.2902G= (p.Glu968=)
3g.38725215C>GCA352156664SCN10Ac.3187G>C (p.Glu1063Gln)
c.3184G>C (p.Glu1062Gln)
c.3211G>C (p.Glu1071Gln)
c.2893G>C (p.Glu965Gln)
c.3196G>C (p.Glu1066Gln)
c.3193G>C (p.Glu1065Gln)
c.2902G>C (p.Glu968Gln)
3g.38725215C>TCA2320327SCN10Ac.3187G>A (p.Glu1063Lys)
c.3184G>A (p.Glu1062Lys)
c.3211G>A (p.Glu1071Lys)
c.2893G>A (p.Glu965Lys)
c.3196G>A (p.Glu1066Lys)
c.3193G>A (p.Glu1065Lys)
c.2902G>A (p.Glu968Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38725216A>CCA433138487SCN10Ac.3186T>G (p.Gly1062=)
c.3183T>G (p.Gly1061=)
c.3210T>G (p.Gly1070=)
c.2892T>G (p.Gly964=)
c.3195T>G (p.Gly1065=)
c.3192T>G (p.Gly1064=)
c.2901T>G (p.Gly967=)
3g.38725216A>GCA433138488SCN10Ac.3186T>C (p.Gly1062=)
c.3183T>C (p.Gly1061=)
c.3210T>C (p.Gly1070=)
c.2892T>C (p.Gly964=)
c.3195T>C (p.Gly1065=)
c.3192T>C (p.Gly1064=)
c.2901T>C (p.Gly967=)
3g.38725216A>TCA433138489SCN10Ac.3186T>A (p.Gly1062=)
c.3183T>A (p.Gly1061=)
c.3210T>A (p.Gly1070=)
c.2892T>A (p.Gly964=)
c.3195T>A (p.Gly1065=)
c.3192T>A (p.Gly1064=)
c.2901T>A (p.Gly967=)
3g.38725217C>ACA352156665SCN10Ac.3185G>T (p.Gly1062Val)
c.3182G>T (p.Gly1061Val)
c.3209G>T (p.Gly1070Val)
c.2891G>T (p.Gly964Val)
c.3194G>T (p.Gly1065Val)
c.3191G>T (p.Gly1064Val)
c.2900G>T (p.Gly967Val)
3g.38725217C>GCA352156666SCN10Ac.3185G>C (p.Gly1062Ala)
c.3182G>C (p.Gly1061Ala)
c.3209G>C (p.Gly1070Ala)
c.2891G>C (p.Gly964Ala)
c.3194G>C (p.Gly1065Ala)
c.3191G>C (p.Gly1064Ala)
c.2900G>C (p.Gly967Ala)
3g.38725217C>TCA352156667SCN10Ac.3185G>A (p.Gly1062Asp)
c.3182G>A (p.Gly1061Asp)
c.3209G>A (p.Gly1070Asp)
c.2891G>A (p.Gly964Asp)
c.3194G>A (p.Gly1065Asp)
c.3191G>A (p.Gly1064Asp)
c.2900G>A (p.Gly967Asp)
 gnomAD v4
3g.38725218C>ACA2320328SCN10Ac.3184G>T (p.Gly1062Cys)
c.3181G>T (p.Gly1061Cys)
c.3208G>T (p.Gly1070Cys)
c.2890G>T (p.Gly964Cys)
c.3193G>T (p.Gly1065Cys)
c.3190G>T (p.Gly1064Cys)
c.2899G>T (p.Gly967Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38725218C=CA1358640565SCN10Ac.3184G= (p.Gly1062=)
c.3181G= (p.Gly1061=)
c.3208G= (p.Gly1070=)
c.2890G= (p.Gly964=)
c.3193G= (p.Gly1065=)
c.3190G= (p.Gly1064=)
c.2899G= (p.Gly967=)
3g.38725218C>GCA352156668SCN10Ac.3184G>C (p.Gly1062Arg)
c.3181G>C (p.Gly1061Arg)
c.3208G>C (p.Gly1070Arg)
c.2890G>C (p.Gly964Arg)
c.3193G>C (p.Gly1065Arg)
c.3190G>C (p.Gly1064Arg)
c.2899G>C (p.Gly967Arg)
3g.38725218C>TCA2320329SCN10Ac.3184G>A (p.Gly1062Ser)
c.3181G>A (p.Gly1061Ser)
c.3208G>A (p.Gly1070Ser)
c.2890G>A (p.Gly964Ser)
c.3193G>A (p.Gly1065Ser)
c.3190G>A (p.Gly1064Ser)
c.2899G>A (p.Gly967Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38725219C>ACA433138490SCN10Ac.3183G>T (p.Leu1061=)
c.3180G>T (p.Leu1060=)
c.3207G>T (p.Leu1069=)
c.2889G>T (p.Leu963=)
c.3192G>T (p.Leu1064=)
c.3189G>T (p.Leu1063=)
c.2898G>T (p.Leu966=)
3g.38725219C>GCA433138491SCN10Ac.3183G>C (p.Leu1061=)
c.3180G>C (p.Leu1060=)
c.3207G>C (p.Leu1069=)
c.2889G>C (p.Leu963=)
c.3192G>C (p.Leu1064=)
c.3189G>C (p.Leu1063=)
c.2898G>C (p.Leu966=)
 gnomAD v4
3g.38725219C>TCA433138492SCN10Ac.3183G>A (p.Leu1061=)
c.3180G>A (p.Leu1060=)
c.3207G>A (p.Leu1069=)
c.2889G>A (p.Leu963=)
c.3192G>A (p.Leu1064=)
c.3189G>A (p.Leu1063=)
c.2898G>A (p.Leu966=)
3g.38725220A>CCA352156669SCN10Ac.3182T>G (p.Leu1061Arg)
c.3179T>G (p.Leu1060Arg)
c.3206T>G (p.Leu1069Arg)
c.2888T>G (p.Leu963Arg)
c.3191T>G (p.Leu1064Arg)
c.3188T>G (p.Leu1063Arg)
c.2897T>G (p.Leu966Arg)
3g.38725220A>GCA352156670SCN10Ac.3182T>C (p.Leu1061Pro)
c.3179T>C (p.Leu1060Pro)
c.3206T>C (p.Leu1069Pro)
c.2888T>C (p.Leu963Pro)
c.3191T>C (p.Leu1064Pro)
c.3188T>C (p.Leu1063Pro)
c.2897T>C (p.Leu966Pro)
 gnomAD v4
3g.38725220A>TCA352156671SCN10Ac.3182T>A (p.Leu1061Gln)
c.3179T>A (p.Leu1060Gln)
c.3206T>A (p.Leu1069Gln)
c.2888T>A (p.Leu963Gln)
c.3191T>A (p.Leu1064Gln)
c.3188T>A (p.Leu1063Gln)
c.2897T>A (p.Leu966Gln)
3g.38725221G>ACA433138493SCN10Ac.3181C>T (p.Leu1061=)
c.3178C>T (p.Leu1060=)
c.3205C>T (p.Leu1069=)
c.2887C>T (p.Leu963=)
c.3190C>T (p.Leu1064=)
c.3187C>T (p.Leu1063=)
c.2896C>T (p.Leu966=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38725221G>CCA2320330SCN10Ac.3181C>G (p.Leu1061Val)
c.3178C>G (p.Leu1060Val)
c.3205C>G (p.Leu1069Val)
c.2887C>G (p.Leu963Val)
c.3190C>G (p.Leu1064Val)
c.3187C>G (p.Leu1063Val)
c.2896C>G (p.Leu966Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38725221G=CA1358640566SCN10Ac.3181C= (p.Leu1061=)
c.3178C= (p.Leu1060=)
c.3205C= (p.Leu1069=)
c.2887C= (p.Leu963=)
c.3190C= (p.Leu1064=)
c.3187C= (p.Leu1063=)
c.2896C= (p.Leu966=)
3g.38725221G>TCA352156672SCN10Ac.3181C>A (p.Leu1061Met)
c.3178C>A (p.Leu1060Met)
c.3205C>A (p.Leu1069Met)
c.2887C>A (p.Leu963Met)
c.3190C>A (p.Leu1064Met)
c.3187C>A (p.Leu1063Met)
c.2896C>A (p.Leu966Met)
 gnomAD v4
3g.38725222G>ACA433138494SCN10Ac.3180C>T (p.Ser1060=)
c.3177C>T (p.Ser1059=)
c.3204C>T (p.Ser1068=)
c.2886C>T (p.Ser962=)
c.3189C>T (p.Ser1063=)
c.3186C>T (p.Ser1062=)
c.2895C>T (p.Ser965=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38725222G>CCA433138495SCN10Ac.3180C>G (p.Ser1060=)
c.3177C>G (p.Ser1059=)
c.3204C>G (p.Ser1068=)
c.2886C>G (p.Ser962=)
c.3189C>G (p.Ser1063=)
c.3186C>G (p.Ser1062=)
c.2895C>G (p.Ser965=)
3g.38725222G=CA1358640567SCN10Ac.3180C= (p.Ser1060=)
c.3177C= (p.Ser1059=)
c.3204C= (p.Ser1068=)
c.2886C= (p.Ser962=)
c.3189C= (p.Ser1063=)
c.3186C= (p.Ser1062=)
c.2895C= (p.Ser965=)
3g.38725222G>TCA433138496SCN10Ac.3180C>A (p.Ser1060=)
c.3177C>A (p.Ser1059=)
c.3204C>A (p.Ser1068=)
c.2886C>A (p.Ser962=)
c.3189C>A (p.Ser1063=)
c.3186C>A (p.Ser1062=)
c.2895C>A (p.Ser965=)
3g.38725223G>ACA352156675SCN10Ac.3179C>T (p.Ser1060Phe)
c.3176C>T (p.Ser1059Phe)
c.3203C>T (p.Ser1068Phe)
c.2885C>T (p.Ser962Phe)
c.3188C>T (p.Ser1063Phe)
c.3185C>T (p.Ser1062Phe)
c.2894C>T (p.Ser965Phe)
 dbSNP
3g.38725223G>CCA352156673SCN10Ac.3179C>G (p.Ser1060Cys)
c.3176C>G (p.Ser1059Cys)
c.3203C>G (p.Ser1068Cys)
c.2885C>G (p.Ser962Cys)
c.3188C>G (p.Ser1063Cys)
c.3185C>G (p.Ser1062Cys)
c.2894C>G (p.Ser965Cys)
3g.38725223G=CA1358640568SCN10Ac.3179C= (p.Ser1060=)
c.3176C= (p.Ser1059=)
c.3203C= (p.Ser1068=)
c.2885C= (p.Ser962=)
c.3188C= (p.Ser1063=)
c.3185C= (p.Ser1062=)
c.2894C= (p.Ser965=)
3g.38725223G>TCA352156674SCN10Ac.3179C>A (p.Ser1060Tyr)
c.3176C>A (p.Ser1059Tyr)
c.3203C>A (p.Ser1068Tyr)
c.2885C>A (p.Ser962Tyr)
c.3188C>A (p.Ser1063Tyr)
c.3185C>A (p.Ser1062Tyr)
c.2894C>A (p.Ser965Tyr)
3g.38725224A=CA1358640569SCN10Ac.3178T= (p.Ser1060=)
c.3175T= (p.Ser1059=)
c.3202T= (p.Ser1068=)
c.2884T= (p.Ser962=)
c.3187T= (p.Ser1063=)
c.3184T= (p.Ser1062=)
c.2893T= (p.Ser965=)
3g.38725224A>CCA2320331SCN10Ac.3178T>G (p.Ser1060Ala)
c.3175T>G (p.Ser1059Ala)
c.3202T>G (p.Ser1068Ala)
c.2884T>G (p.Ser962Ala)
c.3187T>G (p.Ser1063Ala)
c.3184T>G (p.Ser1062Ala)
c.2893T>G (p.Ser965Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38725224A>GCA352156677SCN10Ac.3178T>C (p.Ser1060Pro)
c.3175T>C (p.Ser1059Pro)
c.3202T>C (p.Ser1068Pro)
c.2884T>C (p.Ser962Pro)
c.3187T>C (p.Ser1063Pro)
c.3184T>C (p.Ser1062Pro)
c.2893T>C (p.Ser965Pro)
3g.38725224A>TCA352156676SCN10Ac.3178T>A (p.Ser1060Thr)
c.3175T>A (p.Ser1059Thr)
c.3202T>A (p.Ser1068Thr)
c.2884T>A (p.Ser962Thr)
c.3187T>A (p.Ser1063Thr)
c.3184T>A (p.Ser1062Thr)
c.2893T>A (p.Ser965Thr)
3g.38725225T>ACA433138497SCN10Ac.3177A>T (p.Pro1059=)
c.3174A>T (p.Pro1058=)
c.3201A>T (p.Pro1067=)
c.2883A>T (p.Pro961=)
c.3186A>T (p.Pro1062=)
c.3183A>T (p.Pro1061=)
c.2892A>T (p.Pro964=)
3g.38725225T>CCA433138498SCN10Ac.3177A>G (p.Pro1059=)
c.3174A>G (p.Pro1058=)
c.3201A>G (p.Pro1067=)
c.2883A>G (p.Pro961=)
c.3186A>G (p.Pro1062=)
c.3183A>G (p.Pro1061=)
c.2892A>G (p.Pro964=)
3g.38725225T>GCA433138499SCN10Ac.3177A>C (p.Pro1059=)
c.3174A>C (p.Pro1058=)
c.3201A>C (p.Pro1067=)
c.2883A>C (p.Pro961=)
c.3186A>C (p.Pro1062=)
c.3183A>C (p.Pro1061=)
c.2892A>C (p.Pro964=)
3g.38725226G>ACA352156678SCN10Ac.3176C>T (p.Pro1059Leu)
c.3173C>T (p.Pro1058Leu)
c.3200C>T (p.Pro1067Leu)
c.2882C>T (p.Pro961Leu)
c.3185C>T (p.Pro1062Leu)
c.3182C>T (p.Pro1061Leu)
c.2891C>T (p.Pro964Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.38725226G>CCA352156679SCN10Ac.3176C>G (p.Pro1059Arg)
c.3173C>G (p.Pro1058Arg)
c.3200C>G (p.Pro1067Arg)
c.2882C>G (p.Pro961Arg)
c.3185C>G (p.Pro1062Arg)
c.3182C>G (p.Pro1061Arg)
c.2891C>G (p.Pro964Arg)
3g.38725226G=CA1358640570SCN10Ac.3176C= (p.Pro1059=)
c.3173C= (p.Pro1058=)
c.3200C= (p.Pro1067=)
c.2882C= (p.Pro961=)
c.3185C= (p.Pro1062=)
c.3182C= (p.Pro1061=)
c.2891C= (p.Pro964=)
3g.38725226G>TCA352156680SCN10Ac.3176C>A (p.Pro1059Gln)
c.3173C>A (p.Pro1058Gln)
c.3200C>A (p.Pro1067Gln)
c.2882C>A (p.Pro961Gln)
c.3185C>A (p.Pro1062Gln)
c.3182C>A (p.Pro1061Gln)
c.2891C>A (p.Pro964Gln)
3g.38725227G>ACA352156681SCN10Ac.3175C>T (p.Pro1059Ser)
c.3172C>T (p.Pro1058Ser)
c.3199C>T (p.Pro1067Ser)
c.2881C>T (p.Pro961Ser)
c.3184C>T (p.Pro1062Ser)
c.3181C>T (p.Pro1061Ser)
c.2890C>T (p.Pro964Ser)
3g.38725227G>CCA352156682SCN10Ac.3175C>G (p.Pro1059Ala)
c.3172C>G (p.Pro1058Ala)
c.3199C>G (p.Pro1067Ala)
c.2881C>G (p.Pro961Ala)
c.3184C>G (p.Pro1062Ala)
c.3181C>G (p.Pro1061Ala)
c.2890C>G (p.Pro964Ala)
 dbSNP gnomAD v2 gnomAD v4
3g.38725227G=CA1358640571SCN10Ac.3175C= (p.Pro1059=)
c.3172C= (p.Pro1058=)
c.3199C= (p.Pro1067=)
c.2881C= (p.Pro961=)
c.3184C= (p.Pro1062=)
c.3181C= (p.Pro1061=)
c.2890C= (p.Pro964=)
3g.38725227G>TCA352156683SCN10Ac.3175C>A (p.Pro1059Thr)
c.3172C>A (p.Pro1058Thr)
c.3199C>A (p.Pro1067Thr)
c.2881C>A (p.Pro961Thr)
c.3184C>A (p.Pro1062Thr)
c.3181C>A (p.Pro1061Thr)
c.2890C>A (p.Pro964Thr)
3g.38725228A=CA1358640572SCN10Ac.3174T= (p.Ala1058=)
c.3171T= (p.Ala1057=)
c.3198T= (p.Ala1066=)
c.2880T= (p.Ala960=)
c.3183T= (p.Ala1061=)
c.3180T= (p.Ala1060=)
c.2889T= (p.Ala963=)
3g.38725228A>CCA433138500SCN10Ac.3174T>G (p.Ala1058=)
c.3171T>G (p.Ala1057=)
c.3198T>G (p.Ala1066=)
c.2880T>G (p.Ala960=)
c.3183T>G (p.Ala1061=)
c.3180T>G (p.Ala1060=)
c.2889T>G (p.Ala963=)
3g.38725228A>GCA2320332SCN10Ac.3174T>C (p.Ala1058=)
c.3171T>C (p.Ala1057=)
c.3198T>C (p.Ala1066=)
c.2880T>C (p.Ala960=)
c.3183T>C (p.Ala1061=)
c.3180T>C (p.Ala1060=)
c.2889T>C (p.Ala963=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38725228A>TCA72959574SCN10Ac.3174T>A (p.Ala1058=)
c.3171T>A (p.Ala1057=)
c.3198T>A (p.Ala1066=)
c.2880T>A (p.Ala960=)
c.3183T>A (p.Ala1061=)
c.3180T>A (p.Ala1060=)
c.2889T>A (p.Ala963=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched