Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.71564025C>TCA2659548432DYSFc.2356-33C>T (n.2356-33C>T)
c.2410-33C>T (n.2410-33C>T)
c.2359-33C>T (n.2359-33C>T)
c.2407-33C>T (n.2407-33C>T)
c.2452-33C>T (n.2452-33C>T)
c.2317-33C>T (n.2317-33C>T)
c.2449-33C>T (n.2449-33C>T)
c.2314-33C>T (n.2314-33C>T)
n.2610-33C>T
 gnomAD v4
2g.71564027A=CA1260100492DYSFc.2356-31A= (n.2356-31A=)
c.2410-31A= (n.2410-31A=)
c.2359-31A= (n.2359-31A=)
c.2407-31A= (n.2407-31A=)
c.2452-31A= (n.2452-31A=)
c.2317-31A= (n.2317-31A=)
c.2449-31A= (n.2449-31A=)
c.2314-31A= (n.2314-31A=)
n.2610-31A=
2g.71564027A>GCA533258094DYSFc.2356-31A>G (n.2356-31A>G)
c.2410-31A>G (n.2410-31A>G)
c.2359-31A>G (n.2359-31A>G)
c.2407-31A>G (n.2407-31A>G)
c.2452-31A>G (n.2452-31A>G)
c.2317-31A>G (n.2317-31A>G)
c.2449-31A>G (n.2449-31A>G)
c.2314-31A>G (n.2314-31A>G)
n.2610-31A>G
 dbSNP gnomAD v2 gnomAD v4
2g.71564028T>GCA2577000250DYSFc.2356-30T>G (n.2356-30T>G)
c.2410-30T>G (n.2410-30T>G)
c.2359-30T>G (n.2359-30T>G)
c.2407-30T>G (n.2407-30T>G)
c.2452-30T>G (n.2452-30T>G)
c.2317-30T>G (n.2317-30T>G)
c.2449-30T>G (n.2449-30T>G)
c.2314-30T>G (n.2314-30T>G)
n.2610-30T>G
2g.71564029C=CA1260100494DYSFc.2356-29C= (n.2356-29C=)
c.2410-29C= (n.2410-29C=)
c.2359-29C= (n.2359-29C=)
c.2407-29C= (n.2407-29C=)
c.2452-29C= (n.2452-29C=)
c.2317-29C= (n.2317-29C=)
c.2449-29C= (n.2449-29C=)
c.2314-29C= (n.2314-29C=)
n.2610-29C=
2g.71564029C>GCA2577000251DYSFc.2356-29C>G (n.2356-29C>G)
c.2410-29C>G (n.2410-29C>G)
c.2359-29C>G (n.2359-29C>G)
c.2407-29C>G (n.2407-29C>G)
c.2452-29C>G (n.2452-29C>G)
c.2317-29C>G (n.2317-29C>G)
c.2449-29C>G (n.2449-29C>G)
c.2314-29C>G (n.2314-29C>G)
n.2610-29C>G
2g.71564029C>TCA1260100495DYSFc.2356-29C>T (n.2356-29C>T)
c.2410-29C>T (n.2410-29C>T)
c.2359-29C>T (n.2359-29C>T)
c.2407-29C>T (n.2407-29C>T)
c.2452-29C>T (n.2452-29C>T)
c.2317-29C>T (n.2317-29C>T)
c.2449-29C>T (n.2449-29C>T)
c.2314-29C>T (n.2314-29C>T)
n.2610-29C>T
 dbSNP gnomAD v4
2g.71564031C>GCA2659548434DYSFc.2356-27C>G (n.2356-27C>G)
c.2410-27C>G (n.2410-27C>G)
c.2359-27C>G (n.2359-27C>G)
c.2407-27C>G (n.2407-27C>G)
c.2452-27C>G (n.2452-27C>G)
c.2317-27C>G (n.2317-27C>G)
c.2449-27C>G (n.2449-27C>G)
c.2314-27C>G (n.2314-27C>G)
n.2610-27C>G
 gnomAD v4
2g.71564031C>TCA2750415507DYSFc.2356-27C>T (n.2356-27C>T)
c.2410-27C>T (n.2410-27C>T)
c.2359-27C>T (n.2359-27C>T)
c.2407-27C>T (n.2407-27C>T)
c.2452-27C>T (n.2452-27C>T)
c.2317-27C>T (n.2317-27C>T)
c.2449-27C>T (n.2449-27C>T)
c.2314-27C>T (n.2314-27C>T)
n.2610-27C>T
2g.71564032C=CA1260100500DYSFc.2356-26C= (n.2356-26C=)
c.2410-26C= (n.2410-26C=)
c.2359-26C= (n.2359-26C=)
c.2407-26C= (n.2407-26C=)
c.2452-26C= (n.2452-26C=)
c.2317-26C= (n.2317-26C=)
c.2449-26C= (n.2449-26C=)
c.2314-26C= (n.2314-26C=)
n.2610-26C=
2g.71564032C>TCA1706162DYSFc.2356-26C>T (n.2356-26C>T)
c.2410-26C>T (n.2410-26C>T)
c.2359-26C>T (n.2359-26C>T)
c.2407-26C>T (n.2407-26C>T)
c.2452-26C>T (n.2452-26C>T)
c.2317-26C>T (n.2317-26C>T)
c.2449-26C>T (n.2449-26C>T)
c.2314-26C>T (n.2314-26C>T)
n.2610-26C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71564033A=CA1260100501DYSFc.2356-25A= (n.2356-25A=)
c.2410-25A= (n.2410-25A=)
c.2359-25A= (n.2359-25A=)
c.2407-25A= (n.2407-25A=)
c.2452-25A= (n.2452-25A=)
c.2317-25A= (n.2317-25A=)
c.2449-25A= (n.2449-25A=)
c.2314-25A= (n.2314-25A=)
n.2610-25A=
2g.71564033A>CCA1706163DYSFc.2356-25A>C (n.2356-25A>C)
c.2410-25A>C (n.2410-25A>C)
c.2359-25A>C (n.2359-25A>C)
c.2407-25A>C (n.2407-25A>C)
c.2452-25A>C (n.2452-25A>C)
c.2317-25A>C (n.2317-25A>C)
c.2449-25A>C (n.2449-25A>C)
c.2314-25A>C (n.2314-25A>C)
n.2610-25A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71564033A>TCA2659548438DYSFc.2356-25A>T (n.2356-25A>T)
c.2410-25A>T (n.2410-25A>T)
c.2359-25A>T (n.2359-25A>T)
c.2407-25A>T (n.2407-25A>T)
c.2452-25A>T (n.2452-25A>T)
c.2317-25A>T (n.2317-25A>T)
c.2449-25A>T (n.2449-25A>T)
c.2314-25A>T (n.2314-25A>T)
n.2610-25A>T
 gnomAD v4
2g.71564034C>ACA1032073461DYSFc.2356-24C>A (n.2356-24C>A)
c.2410-24C>A (n.2410-24C>A)
c.2359-24C>A (n.2359-24C>A)
c.2407-24C>A (n.2407-24C>A)
c.2452-24C>A (n.2452-24C>A)
c.2317-24C>A (n.2317-24C>A)
c.2449-24C>A (n.2449-24C>A)
c.2314-24C>A (n.2314-24C>A)
n.2610-24C>A
 dbSNP gnomAD v3 gnomAD v4
2g.71564034C=CA1260100503DYSFc.2356-24C= (n.2356-24C=)
c.2410-24C= (n.2410-24C=)
c.2359-24C= (n.2359-24C=)
c.2407-24C= (n.2407-24C=)
c.2452-24C= (n.2452-24C=)
c.2317-24C= (n.2317-24C=)
c.2449-24C= (n.2449-24C=)
c.2314-24C= (n.2314-24C=)
n.2610-24C=
2g.71564034C>TCA1706164DYSFc.2356-24C>T (n.2356-24C>T)
c.2410-24C>T (n.2410-24C>T)
c.2359-24C>T (n.2359-24C>T)
c.2407-24C>T (n.2407-24C>T)
c.2452-24C>T (n.2452-24C>T)
c.2317-24C>T (n.2317-24C>T)
c.2449-24C>T (n.2449-24C>T)
c.2314-24C>T (n.2314-24C>T)
n.2610-24C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71564035C=CA1260100507DYSFc.2356-23C= (n.2356-23C=)
c.2410-23C= (n.2410-23C=)
c.2359-23C= (n.2359-23C=)
c.2407-23C= (n.2407-23C=)
c.2452-23C= (n.2452-23C=)
c.2317-23C= (n.2317-23C=)
c.2449-23C= (n.2449-23C=)
c.2314-23C= (n.2314-23C=)
n.2610-23C=
2g.71564035C>GCA1706165DYSFc.2356-23C>G (n.2356-23C>G)
c.2410-23C>G (n.2410-23C>G)
c.2359-23C>G (n.2359-23C>G)
c.2407-23C>G (n.2407-23C>G)
c.2452-23C>G (n.2452-23C>G)
c.2317-23C>G (n.2317-23C>G)
c.2449-23C>G (n.2449-23C>G)
c.2314-23C>G (n.2314-23C>G)
n.2610-23C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71564037C=CA1260100510DYSFc.2356-21C= (n.2356-21C=)
c.2410-21C= (n.2410-21C=)
c.2359-21C= (n.2359-21C=)
c.2407-21C= (n.2407-21C=)
c.2452-21C= (n.2452-21C=)
c.2317-21C= (n.2317-21C=)
c.2449-21C= (n.2449-21C=)
c.2314-21C= (n.2314-21C=)
n.2610-21C=
2g.71564037C>GCA892695585DYSFc.2356-21C>G (n.2356-21C>G)
c.2410-21C>G (n.2410-21C>G)
c.2359-21C>G (n.2359-21C>G)
c.2407-21C>G (n.2407-21C>G)
c.2452-21C>G (n.2452-21C>G)
c.2317-21C>G (n.2317-21C>G)
c.2449-21C>G (n.2449-21C>G)
c.2314-21C>G (n.2314-21C>G)
n.2610-21C>G
 dbSNP gnomAD v3 gnomAD v4
2g.71564037C>TCA1706166DYSFc.2356-21C>T (n.2356-21C>T)
c.2410-21C>T (n.2410-21C>T)
c.2359-21C>T (n.2359-21C>T)
c.2407-21C>T (n.2407-21C>T)
c.2452-21C>T (n.2452-21C>T)
c.2317-21C>T (n.2317-21C>T)
c.2449-21C>T (n.2449-21C>T)
c.2314-21C>T (n.2314-21C>T)
n.2610-21C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71564038G>ACA1706167DYSFc.2356-20G>A (n.2356-20G>A)
c.2410-20G>A (n.2410-20G>A)
c.2359-20G>A (n.2359-20G>A)
c.2407-20G>A (n.2407-20G>A)
c.2452-20G>A (n.2452-20G>A)
c.2317-20G>A (n.2317-20G>A)
c.2449-20G>A (n.2449-20G>A)
c.2314-20G>A (n.2314-20G>A)
n.2610-20G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71564038G=CA1260100511DYSFc.2356-20G= (n.2356-20G=)
c.2410-20G= (n.2410-20G=)
c.2359-20G= (n.2359-20G=)
c.2407-20G= (n.2407-20G=)
c.2452-20G= (n.2452-20G=)
c.2317-20G= (n.2317-20G=)
c.2449-20G= (n.2449-20G=)
c.2314-20G= (n.2314-20G=)
n.2610-20G=
2g.71564038G>TCA2659548440DYSFc.2356-20G>T (n.2356-20G>T)
c.2410-20G>T (n.2410-20G>T)
c.2359-20G>T (n.2359-20G>T)
c.2407-20G>T (n.2407-20G>T)
c.2452-20G>T (n.2452-20G>T)
c.2317-20G>T (n.2317-20G>T)
c.2449-20G>T (n.2449-20G>T)
c.2314-20G>T (n.2314-20G>T)
n.2610-20G>T
 gnomAD v4
2g.71564039A>CCA913203485DYSFc.2356-19A>C (n.2356-19A>C)
c.2410-19A>C (n.2410-19A>C)
c.2359-19A>C (n.2359-19A>C)
c.2407-19A>C (n.2407-19A>C)
c.2452-19A>C (n.2452-19A>C)
c.2317-19A>C (n.2317-19A>C)
c.2449-19A>C (n.2449-19A>C)
c.2314-19A>C (n.2314-19A>C)
n.2610-19A>C
2g.71564040C>ACA2577000252DYSFc.2356-18C>A (n.2356-18C>A)
c.2410-18C>A (n.2410-18C>A)
c.2359-18C>A (n.2359-18C>A)
c.2407-18C>A (n.2407-18C>A)
c.2452-18C>A (n.2452-18C>A)
c.2317-18C>A (n.2317-18C>A)
c.2449-18C>A (n.2449-18C>A)
c.2314-18C>A (n.2314-18C>A)
n.2610-18C>A
2g.71564041C>TCA2577000253DYSFc.2356-17C>T (n.2356-17C>T)
c.2410-17C>T (n.2410-17C>T)
c.2359-17C>T (n.2359-17C>T)
c.2407-17C>T (n.2407-17C>T)
c.2452-17C>T (n.2452-17C>T)
c.2317-17C>T (n.2317-17C>T)
c.2449-17C>T (n.2449-17C>T)
c.2314-17C>T (n.2314-17C>T)
n.2610-17C>T
 ClinVar gnomAD v4
2g.71564042A>GCA2520921693DYSFc.2356-16A>G (n.2356-16A>G)
c.2410-16A>G (n.2410-16A>G)
c.2359-16A>G (n.2359-16A>G)
c.2407-16A>G (n.2407-16A>G)
c.2452-16A>G (n.2452-16A>G)
c.2317-16A>G (n.2317-16A>G)
c.2449-16A>G (n.2449-16A>G)
c.2314-16A>G (n.2314-16A>G)
n.2610-16A>G
 gnomAD v4
2g.71564043C>ACA1706168DYSFc.2356-15C>A (n.2356-15C>A)
c.2410-15C>A (n.2410-15C>A)
c.2359-15C>A (n.2359-15C>A)
c.2407-15C>A (n.2407-15C>A)
c.2452-15C>A (n.2452-15C>A)
c.2317-15C>A (n.2317-15C>A)
c.2449-15C>A (n.2449-15C>A)
c.2314-15C>A (n.2314-15C>A)
n.2610-15C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.71564043C=CA1260100513DYSFc.2356-15C= (n.2356-15C=)
c.2410-15C= (n.2410-15C=)
c.2359-15C= (n.2359-15C=)
c.2407-15C= (n.2407-15C=)
c.2452-15C= (n.2452-15C=)
c.2317-15C= (n.2317-15C=)
c.2449-15C= (n.2449-15C=)
c.2314-15C= (n.2314-15C=)
n.2610-15C=
2g.71564045A=CA1260100516DYSFc.2356-13A= (n.2356-13A=)
c.2410-13A= (n.2410-13A=)
c.2359-13A= (n.2359-13A=)
c.2407-13A= (n.2407-13A=)
c.2452-13A= (n.2452-13A=)
c.2317-13A= (n.2317-13A=)
c.2449-13A= (n.2449-13A=)
c.2314-13A= (n.2314-13A=)
n.2610-13A=
2g.71564045A>CCA1260100517DYSFc.2356-13A>C (n.2356-13A>C)
c.2410-13A>C (n.2410-13A>C)
c.2359-13A>C (n.2359-13A>C)
c.2407-13A>C (n.2407-13A>C)
c.2452-13A>C (n.2452-13A>C)
c.2317-13A>C (n.2317-13A>C)
c.2449-13A>C (n.2449-13A>C)
c.2314-13A>C (n.2314-13A>C)
n.2610-13A>C
 dbSNP
2g.71564046C>ACA1706169DYSFc.2356-12C>A (n.2356-12C>A)
c.2410-12C>A (n.2410-12C>A)
c.2359-12C>A (n.2359-12C>A)
c.2407-12C>A (n.2407-12C>A)
c.2452-12C>A (n.2452-12C>A)
c.2317-12C>A (n.2317-12C>A)
c.2449-12C>A (n.2449-12C>A)
c.2314-12C>A (n.2314-12C>A)
n.2610-12C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71564046C=CA1260100519DYSFc.2356-12C= (n.2356-12C=)
c.2410-12C= (n.2410-12C=)
c.2359-12C= (n.2359-12C=)
c.2407-12C= (n.2407-12C=)
c.2452-12C= (n.2452-12C=)
c.2317-12C= (n.2317-12C=)
c.2449-12C= (n.2449-12C=)
c.2314-12C= (n.2314-12C=)
n.2610-12C=
2g.71564047C=CA1260100521DYSFc.2356-11C= (n.2356-11C=)
c.2410-11C= (n.2410-11C=)
c.2359-11C= (n.2359-11C=)
c.2407-11C= (n.2407-11C=)
c.2452-11C= (n.2452-11C=)
c.2317-11C= (n.2317-11C=)
c.2449-11C= (n.2449-11C=)
c.2314-11C= (n.2314-11C=)
n.2610-11C=
2g.71564047C>GCA1260100522DYSFc.2356-11C>G (n.2356-11C>G)
c.2410-11C>G (n.2410-11C>G)
c.2359-11C>G (n.2359-11C>G)
c.2407-11C>G (n.2407-11C>G)
c.2452-11C>G (n.2452-11C>G)
c.2317-11C>G (n.2317-11C>G)
c.2449-11C>G (n.2449-11C>G)
c.2314-11C>G (n.2314-11C>G)
n.2610-11C>G
 dbSNP
2g.71564047C>TCA2697548240DYSFc.2356-11C>T (n.2356-11C>T)
c.2410-11C>T (n.2410-11C>T)
c.2359-11C>T (n.2359-11C>T)
c.2407-11C>T (n.2407-11C>T)
c.2452-11C>T (n.2452-11C>T)
c.2317-11C>T (n.2317-11C>T)
c.2449-11C>T (n.2449-11C>T)
c.2314-11C>T (n.2314-11C>T)
n.2610-11C>T
 ClinVar
2g.71564048C>GCA2577000254DYSFc.2356-10C>G (n.2356-10C>G)
c.2410-10C>G (n.2410-10C>G)
c.2359-10C>G (n.2359-10C>G)
c.2407-10C>G (n.2407-10C>G)
c.2452-10C>G (n.2452-10C>G)
c.2317-10C>G (n.2317-10C>G)
c.2449-10C>G (n.2449-10C>G)
c.2314-10C>G (n.2314-10C>G)
n.2610-10C>G
 ClinVar
2g.71564048_71564051dupCA1260100524DYSFc.2356-10_2356-7dup (n.2356-10_2356-7dup)
c.2410-10_2410-7dup (n.2410-10_2410-7dup)
c.2359-10_2359-7dup (n.2359-10_2359-7dup)
c.2407-10_2407-7dup (n.2407-10_2407-7dup)
c.2452-10_2452-7dup (n.2452-10_2452-7dup)
c.2317-10_2317-7dup (n.2317-10_2317-7dup)
c.2449-10_2449-7dup (n.2449-10_2449-7dup)
c.2314-10_2314-7dup (n.2314-10_2314-7dup)
n.2610-10_2610-7dup
 dbSNP
2g.71564049T>ACA2573105803DYSFc.2356-9T>A (n.2356-9T>A)
c.2410-9T>A (n.2410-9T>A)
c.2359-9T>A (n.2359-9T>A)
c.2407-9T>A (n.2407-9T>A)
c.2452-9T>A (n.2452-9T>A)
c.2317-9T>A (n.2317-9T>A)
c.2449-9T>A (n.2449-9T>A)
c.2314-9T>A (n.2314-9T>A)
n.2610-9T>A
2g.71564050C>TCA2659548443DYSFc.2356-8C>T (n.2356-8C>T)
c.2410-8C>T (n.2410-8C>T)
c.2359-8C>T (n.2359-8C>T)
c.2407-8C>T (n.2407-8C>T)
c.2452-8C>T (n.2452-8C>T)
c.2317-8C>T (n.2317-8C>T)
c.2449-8C>T (n.2449-8C>T)
c.2314-8C>T (n.2314-8C>T)
n.2610-8C>T
 gnomAD v4
2g.71564052G>ACA49742257DYSFc.2356-6G>A (n.2356-6G>A)
c.2410-6G>A (n.2410-6G>A)
c.2359-6G>A (n.2359-6G>A)
c.2407-6G>A (n.2407-6G>A)
c.2452-6G>A (n.2452-6G>A)
c.2317-6G>A (n.2317-6G>A)
c.2449-6G>A (n.2449-6G>A)
c.2314-6G>A (n.2314-6G>A)
n.2610-6G>A
 ClinVar dbSNP gnomAD v4
2g.71564052G>CCA533258109DYSFc.2356-6G>C (n.2356-6G>C)
c.2410-6G>C (n.2410-6G>C)
c.2359-6G>C (n.2359-6G>C)
c.2407-6G>C (n.2407-6G>C)
c.2452-6G>C (n.2452-6G>C)
c.2317-6G>C (n.2317-6G>C)
c.2449-6G>C (n.2449-6G>C)
c.2314-6G>C (n.2314-6G>C)
n.2610-6G>C
 dbSNP gnomAD v2 gnomAD v4
2g.71564052G=CA1260100526DYSFc.2356-6G= (n.2356-6G=)
c.2410-6G= (n.2410-6G=)
c.2359-6G= (n.2359-6G=)
c.2407-6G= (n.2407-6G=)
c.2452-6G= (n.2452-6G=)
c.2317-6G= (n.2317-6G=)
c.2449-6G= (n.2449-6G=)
c.2314-6G= (n.2314-6G=)
n.2610-6G=
2g.71564052G>TCA2573135717DYSFc.2356-6G>T (n.2356-6G>T)
c.2410-6G>T (n.2410-6G>T)
c.2359-6G>T (n.2359-6G>T)
c.2407-6G>T (n.2407-6G>T)
c.2452-6G>T (n.2452-6G>T)
c.2317-6G>T (n.2317-6G>T)
c.2449-6G>T (n.2449-6G>T)
c.2314-6G>T (n.2314-6G>T)
n.2610-6G>T
 ClinVar dbSNP gnomAD v4
2g.71564053T>CCA1260100530DYSFc.2356-5T>C (n.2356-5T>C)
c.2410-5T>C (n.2410-5T>C)
c.2359-5T>C (n.2359-5T>C)
c.2407-5T>C (n.2407-5T>C)
c.2452-5T>C (n.2452-5T>C)
c.2317-5T>C (n.2317-5T>C)
c.2449-5T>C (n.2449-5T>C)
c.2314-5T>C (n.2314-5T>C)
n.2610-5T>C
 dbSNP gnomAD v4
2g.71564053T=CA1260100529DYSFc.2356-5T= (n.2356-5T=)
c.2410-5T= (n.2410-5T=)
c.2359-5T= (n.2359-5T=)
c.2407-5T= (n.2407-5T=)
c.2452-5T= (n.2452-5T=)
c.2317-5T= (n.2317-5T=)
c.2449-5T= (n.2449-5T=)
c.2314-5T= (n.2314-5T=)
n.2610-5T=
2g.71564054T>CCA2522970817DYSFc.2356-4T>C (n.2356-4T>C)
c.2410-4T>C (n.2410-4T>C)
c.2359-4T>C (n.2359-4T>C)
c.2407-4T>C (n.2407-4T>C)
c.2452-4T>C (n.2452-4T>C)
c.2317-4T>C (n.2317-4T>C)
c.2449-4T>C (n.2449-4T>C)
c.2314-4T>C (n.2314-4T>C)
n.2610-4T>C
2g.71564055C=CA1260100532DYSFc.2356-3C= (n.2356-3C=)
c.2410-3C= (n.2410-3C=)
c.2359-3C= (n.2359-3C=)
c.2407-3C= (n.2407-3C=)
c.2452-3C= (n.2452-3C=)
c.2317-3C= (n.2317-3C=)
c.2449-3C= (n.2449-3C=)
c.2314-3C= (n.2314-3C=)
n.2610-3C=
2g.71564055C>TCA1706170DYSFc.2356-3C>T (n.2356-3C>T)
c.2410-3C>T (n.2410-3C>T)
c.2359-3C>T (n.2359-3C>T)
c.2407-3C>T (n.2407-3C>T)
c.2452-3C>T (n.2452-3C>T)
c.2317-3C>T (n.2317-3C>T)
c.2449-3C>T (n.2449-3C>T)
c.2314-3C>T (n.2314-3C>T)
n.2610-3C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71564056A=CA1260100535DYSFc.2356-2A= (n.2356-2A=)
c.2410-2A= (n.2410-2A=)
c.2359-2A= (n.2359-2A=)
c.2407-2A= (n.2407-2A=)
c.2452-2A= (n.2452-2A=)
c.2317-2A= (n.2317-2A=)
c.2449-2A= (n.2449-2A=)
c.2314-2A= (n.2314-2A=)
n.2610-2A=
2g.71564056A>CCA347211051DYSFc.2356-2A>C (n.2356-2A>C)
c.2410-2A>C (n.2410-2A>C)
c.2359-2A>C (n.2359-2A>C)
c.2407-2A>C (n.2407-2A>C)
c.2452-2A>C (n.2452-2A>C)
c.2317-2A>C (n.2317-2A>C)
c.2449-2A>C (n.2449-2A>C)
c.2314-2A>C (n.2314-2A>C)
n.2610-2A>C
2g.71564056A>GCA347211053DYSFc.2356-2A>G (n.2356-2A>G)
c.2410-2A>G (n.2410-2A>G)
c.2359-2A>G (n.2359-2A>G)
c.2407-2A>G (n.2407-2A>G)
c.2452-2A>G (n.2452-2A>G)
c.2317-2A>G (n.2317-2A>G)
c.2449-2A>G (n.2449-2A>G)
c.2314-2A>G (n.2314-2A>G)
n.2610-2A>G
 ClinVar dbSNP
2g.71564056A>TCA347211055DYSFc.2356-2A>T (n.2356-2A>T)
c.2410-2A>T (n.2410-2A>T)
c.2359-2A>T (n.2359-2A>T)
c.2407-2A>T (n.2407-2A>T)
c.2452-2A>T (n.2452-2A>T)
c.2317-2A>T (n.2317-2A>T)
c.2449-2A>T (n.2449-2A>T)
c.2314-2A>T (n.2314-2A>T)
n.2610-2A>T
 dbSNP gnomAD v2
2g.71564057G>ACA347211063DYSFc.2356-1G>A (n.2356-1G>A)
c.2410-1G>A (n.2410-1G>A)
c.2359-1G>A (n.2359-1G>A)
c.2407-1G>A (n.2407-1G>A)
c.2452-1G>A (n.2452-1G>A)
c.2317-1G>A (n.2317-1G>A)
c.2449-1G>A (n.2449-1G>A)
c.2314-1G>A (n.2314-1G>A)
n.2610-1G>A
 gnomAD v4
2g.71564057G>CCA347211058DYSFc.2356-1G>C (n.2356-1G>C)
c.2410-1G>C (n.2410-1G>C)
c.2359-1G>C (n.2359-1G>C)
c.2407-1G>C (n.2407-1G>C)
c.2452-1G>C (n.2452-1G>C)
c.2317-1G>C (n.2317-1G>C)
c.2449-1G>C (n.2449-1G>C)
c.2314-1G>C (n.2314-1G>C)
n.2610-1G>C
2g.71564057G>TCA347211060DYSFc.2356-1G>T (n.2356-1G>T)
c.2410-1G>T (n.2410-1G>T)
c.2359-1G>T (n.2359-1G>T)
c.2407-1G>T (n.2407-1G>T)
c.2452-1G>T (n.2452-1G>T)
c.2317-1G>T (n.2317-1G>T)
c.2449-1G>T (n.2449-1G>T)
c.2314-1G>T (n.2314-1G>T)
n.2610-1G>T
2g.71564058C>ACA1706171DYSFc.2356C>A (p.Pro786Thr)
c.2410C>A (p.Pro804Thr)
c.2359C>A (p.Pro787Thr)
c.2407C>A (p.Pro803Thr)
c.2452C>A (p.Pro818Thr)
c.2317C>A (p.Pro773Thr)
c.2449C>A (p.Pro817Thr)
c.2314C>A (p.Pro772Thr)
n.2610C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71564058C=CA1260100539DYSFc.2356C= (p.Pro786=)
c.2410C= (p.Pro804=)
c.2359C= (p.Pro787=)
c.2407C= (p.Pro803=)
c.2452C= (p.Pro818=)
c.2317C= (p.Pro773=)
c.2449C= (p.Pro817=)
c.2314C= (p.Pro772=)
n.2610C=
2g.71564058C>GCA347211066DYSFc.2356C>G (p.Pro786Ala)
c.2410C>G (p.Pro804Ala)
c.2359C>G (p.Pro787Ala)
c.2407C>G (p.Pro803Ala)
c.2452C>G (p.Pro818Ala)
c.2317C>G (p.Pro773Ala)
c.2449C>G (p.Pro817Ala)
c.2314C>G (p.Pro772Ala)
n.2610C>G
 gnomAD v4
2g.71564058C>TCA347211068DYSFc.2356C>T (p.Pro786Ser)
c.2410C>T (p.Pro804Ser)
c.2359C>T (p.Pro787Ser)
c.2407C>T (p.Pro803Ser)
c.2452C>T (p.Pro818Ser)
c.2317C>T (p.Pro773Ser)
c.2449C>T (p.Pro817Ser)
c.2314C>T (p.Pro772Ser)
n.2610C>T
2g.71564061delCA2659548451DYSFc.2359del (p.Gln787ArgfsTer?)
c.2413del (p.Gln805ArgfsTer?)
c.2362del (p.Gln788ArgfsTer?)
c.2410del (p.Gln804ArgfsTer?)
c.2455del (p.Gln819ArgfsTer?)
c.2320del (p.Gln774ArgfsTer?)
c.2452del (p.Gln818ArgfsTer?)
c.2317del (p.Gln773ArgfsTer?)
n.2613del
 gnomAD v4
2g.71564059C>ACA10606842DYSFc.2357C>A (p.Pro786His)
c.2411C>A (p.Pro804His)
c.2360C>A (p.Pro787His)
c.2408C>A (p.Pro803His)
c.2453C>A (p.Pro818His)
c.2318C>A (p.Pro773His)
c.2450C>A (p.Pro817His)
c.2315C>A (p.Pro772His)
n.2611C>A
 ClinVar dbSNP
2g.71564059C=CA1260100544DYSFc.2357C= (p.Pro786=)
c.2411C= (p.Pro804=)
c.2360C= (p.Pro787=)
c.2408C= (p.Pro803=)
c.2453C= (p.Pro818=)
c.2318C= (p.Pro773=)
c.2450C= (p.Pro817=)
c.2315C= (p.Pro772=)
n.2611C=
2g.71564059C>GCA347211072DYSFc.2357C>G (p.Pro786Arg)
c.2411C>G (p.Pro804Arg)
c.2360C>G (p.Pro787Arg)
c.2408C>G (p.Pro803Arg)
c.2453C>G (p.Pro818Arg)
c.2318C>G (p.Pro773Arg)
c.2450C>G (p.Pro817Arg)
c.2315C>G (p.Pro772Arg)
n.2611C>G
2g.71564059C>TCA1706172DYSFc.2357C>T (p.Pro786Leu)
c.2411C>T (p.Pro804Leu)
c.2360C>T (p.Pro787Leu)
c.2408C>T (p.Pro803Leu)
c.2453C>T (p.Pro818Leu)
c.2318C>T (p.Pro773Leu)
c.2450C>T (p.Pro817Leu)
c.2315C>T (p.Pro772Leu)
n.2611C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71564060C>ACA426701655DYSFc.2358C>A (p.Pro786=)
c.2412C>A (p.Pro804=)
c.2361C>A (p.Pro787=)
c.2409C>A (p.Pro803=)
c.2454C>A (p.Pro818=)
c.2319C>A (p.Pro773=)
c.2451C>A (p.Pro817=)
c.2316C>A (p.Pro772=)
n.2612C>A
2g.71564060C=CA1260100548DYSFc.2358C= (p.Pro786=)
c.2412C= (p.Pro804=)
c.2361C= (p.Pro787=)
c.2409C= (p.Pro803=)
c.2454C= (p.Pro818=)
c.2319C= (p.Pro773=)
c.2451C= (p.Pro817=)
c.2316C= (p.Pro772=)
n.2612C=
2g.71564060C>GCA426701656DYSFc.2358C>G (p.Pro786=)
c.2412C>G (p.Pro804=)
c.2361C>G (p.Pro787=)
c.2409C>G (p.Pro803=)
c.2454C>G (p.Pro818=)
c.2319C>G (p.Pro773=)
c.2451C>G (p.Pro817=)
c.2316C>G (p.Pro772=)
n.2612C>G
2g.71564060C>TCA426701657DYSFc.2358C>T (p.Pro786=)
c.2412C>T (p.Pro804=)
c.2361C>T (p.Pro787=)
c.2409C>T (p.Pro803=)
c.2454C>T (p.Pro818=)
c.2319C>T (p.Pro773=)
c.2451C>T (p.Pro817=)
c.2316C>T (p.Pro772=)
n.2612C>T
 dbSNP gnomAD v2
2g.71564061C>ACA347211075DYSFc.2359C>A (p.Gln787Lys)
c.2413C>A (p.Gln805Lys)
c.2362C>A (p.Gln788Lys)
c.2410C>A (p.Gln804Lys)
c.2455C>A (p.Gln819Lys)
c.2320C>A (p.Gln774Lys)
c.2452C>A (p.Gln818Lys)
c.2317C>A (p.Gln773Lys)
n.2613C>A
2g.71564061C>GCA347211077DYSFc.2359C>G (p.Gln787Glu)
c.2413C>G (p.Gln805Glu)
c.2362C>G (p.Gln788Glu)
c.2410C>G (p.Gln804Glu)
c.2455C>G (p.Gln819Glu)
c.2320C>G (p.Gln774Glu)
c.2452C>G (p.Gln818Glu)
c.2317C>G (p.Gln773Glu)
n.2613C>G
2g.71564061C>TCA347211080DYSFc.2359C>T (p.Gln787Ter)
c.2413C>T (p.Gln805Ter)
c.2362C>T (p.Gln788Ter)
c.2410C>T (p.Gln804Ter)
c.2455C>T (p.Gln819Ter)
c.2320C>T (p.Gln774Ter)
c.2452C>T (p.Gln818Ter)
c.2317C>T (p.Gln773Ter)
n.2613C>T
2g.71564062A=CA1260100550DYSFc.2360A= (p.Gln787=)
c.2414A= (p.Gln805=)
c.2363A= (p.Gln788=)
c.2411A= (p.Gln804=)
c.2456A= (p.Gln819=)
c.2321A= (p.Gln774=)
c.2453A= (p.Gln818=)
c.2318A= (p.Gln773=)
n.2614A=
2g.71564062A>CCA347211082DYSFc.2360A>C (p.Gln787Pro)
c.2414A>C (p.Gln805Pro)
c.2363A>C (p.Gln788Pro)
c.2411A>C (p.Gln804Pro)
c.2456A>C (p.Gln819Pro)
c.2321A>C (p.Gln774Pro)
c.2453A>C (p.Gln818Pro)
c.2318A>C (p.Gln773Pro)
n.2614A>C
2g.71564062A>GCA347211084DYSFc.2360A>G (p.Gln787Arg)
c.2414A>G (p.Gln805Arg)
c.2363A>G (p.Gln788Arg)
c.2411A>G (p.Gln804Arg)
c.2456A>G (p.Gln819Arg)
c.2321A>G (p.Gln774Arg)
c.2453A>G (p.Gln818Arg)
c.2318A>G (p.Gln773Arg)
n.2614A>G
 ClinVar dbSNP
2g.71564062A>TCA347211086DYSFc.2360A>T (p.Gln787Leu)
c.2414A>T (p.Gln805Leu)
c.2363A>T (p.Gln788Leu)
c.2411A>T (p.Gln804Leu)
c.2456A>T (p.Gln819Leu)
c.2321A>T (p.Gln774Leu)
c.2453A>T (p.Gln818Leu)
c.2318A>T (p.Gln773Leu)
n.2614A>T
2g.71564063G>ACA426701658DYSFc.2361G>A (p.Gln787=)
c.2415G>A (p.Gln805=)
c.2364G>A (p.Gln788=)
c.2412G>A (p.Gln804=)
c.2457G>A (p.Gln819=)
c.2322G>A (p.Gln774=)
c.2454G>A (p.Gln818=)
c.2319G>A (p.Gln773=)
n.2615G>A
2g.71564063G>CCA347211089DYSFc.2361G>C (p.Gln787His)
c.2415G>C (p.Gln805His)
c.2364G>C (p.Gln788His)
c.2412G>C (p.Gln804His)
c.2457G>C (p.Gln819His)
c.2322G>C (p.Gln774His)
c.2454G>C (p.Gln818His)
c.2319G>C (p.Gln773His)
n.2615G>C
2g.71564063G=CA1260100552DYSFc.2361G= (p.Gln787=)
c.2415G= (p.Gln805=)
c.2364G= (p.Gln788=)
c.2412G= (p.Gln804=)
c.2457G= (p.Gln819=)
c.2322G= (p.Gln774=)
c.2454G= (p.Gln818=)
c.2319G= (p.Gln773=)
n.2615G=
2g.71564063G>TCA347211088DYSFc.2361G>T (p.Gln787His)
c.2415G>T (p.Gln805His)
c.2364G>T (p.Gln788His)
c.2412G>T (p.Gln804His)
c.2457G>T (p.Gln819His)
c.2322G>T (p.Gln774His)
c.2454G>T (p.Gln818His)
c.2319G>T (p.Gln773His)
n.2615G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71564064A>CCA347211091DYSFc.2362A>C (p.Asn788His)
c.2416A>C (p.Asn806His)
c.2365A>C (p.Asn789His)
c.2413A>C (p.Asn805His)
c.2458A>C (p.Asn820His)
c.2323A>C (p.Asn775His)
c.2455A>C (p.Asn819His)
c.2320A>C (p.Asn774His)
n.2616A>C
2g.71564064A>GCA347211093DYSFc.2362A>G (p.Asn788Asp)
c.2416A>G (p.Asn806Asp)
c.2365A>G (p.Asn789Asp)
c.2413A>G (p.Asn805Asp)
c.2458A>G (p.Asn820Asp)
c.2323A>G (p.Asn775Asp)
c.2455A>G (p.Asn819Asp)
c.2320A>G (p.Asn774Asp)
n.2616A>G
2g.71564064A>TCA347211095DYSFc.2362A>T (p.Asn788Tyr)
c.2416A>T (p.Asn806Tyr)
c.2365A>T (p.Asn789Tyr)
c.2413A>T (p.Asn805Tyr)
c.2458A>T (p.Asn820Tyr)
c.2323A>T (p.Asn775Tyr)
c.2455A>T (p.Asn819Tyr)
c.2320A>T (p.Asn774Tyr)
n.2616A>T
 COSMIC COSMIC
2g.71564065A>CCA347211098DYSFc.2363A>C (p.Asn788Thr)
c.2417A>C (p.Asn806Thr)
c.2366A>C (p.Asn789Thr)
c.2414A>C (p.Asn805Thr)
c.2459A>C (p.Asn820Thr)
c.2324A>C (p.Asn775Thr)
c.2456A>C (p.Asn819Thr)
c.2321A>C (p.Asn774Thr)
n.2617A>C
2g.71564065A>GCA347211099DYSFc.2363A>G (p.Asn788Ser)
c.2417A>G (p.Asn806Ser)
c.2366A>G (p.Asn789Ser)
c.2414A>G (p.Asn805Ser)
c.2459A>G (p.Asn820Ser)
c.2324A>G (p.Asn775Ser)
c.2456A>G (p.Asn819Ser)
c.2321A>G (p.Asn774Ser)
n.2617A>G
2g.71564065A>TCA347211101DYSFc.2363A>T (p.Asn788Ile)
c.2417A>T (p.Asn806Ile)
c.2366A>T (p.Asn789Ile)
c.2414A>T (p.Asn805Ile)
c.2459A>T (p.Asn820Ile)
c.2324A>T (p.Asn775Ile)
c.2456A>T (p.Asn819Ile)
c.2321A>T (p.Asn774Ile)
n.2617A>T
2g.71564066C>ACA347211103DYSFc.2364C>A (p.Asn788Lys)
c.2418C>A (p.Asn806Lys)
c.2367C>A (p.Asn789Lys)
c.2415C>A (p.Asn805Lys)
c.2460C>A (p.Asn820Lys)
c.2325C>A (p.Asn775Lys)
c.2457C>A (p.Asn819Lys)
c.2322C>A (p.Asn774Lys)
n.2618C>A
2g.71564066C>GCA347211105DYSFc.2364C>G (p.Asn788Lys)
c.2418C>G (p.Asn806Lys)
c.2367C>G (p.Asn789Lys)
c.2415C>G (p.Asn805Lys)
c.2460C>G (p.Asn820Lys)
c.2325C>G (p.Asn775Lys)
c.2457C>G (p.Asn819Lys)
c.2322C>G (p.Asn774Lys)
n.2618C>G
2g.71564066C>TCA426701659DYSFc.2364C>T (p.Asn788=)
c.2418C>T (p.Asn806=)
c.2367C>T (p.Asn789=)
c.2415C>T (p.Asn805=)
c.2460C>T (p.Asn820=)
c.2325C>T (p.Asn775=)
c.2457C>T (p.Asn819=)
c.2322C>T (p.Asn774=)
n.2618C>T
 ClinVar
2g.71564067A>CCA347211108DYSFc.2365A>C (p.Ser789Arg)
c.2419A>C (p.Ser807Arg)
c.2368A>C (p.Ser790Arg)
c.2416A>C (p.Ser806Arg)
c.2461A>C (p.Ser821Arg)
c.2326A>C (p.Ser776Arg)
c.2458A>C (p.Ser820Arg)
c.2323A>C (p.Ser775Arg)
n.2619A>C
2g.71564067A>GCA347211110DYSFc.2365A>G (p.Ser789Gly)
c.2419A>G (p.Ser807Gly)
c.2368A>G (p.Ser790Gly)
c.2416A>G (p.Ser806Gly)
c.2461A>G (p.Ser821Gly)
c.2326A>G (p.Ser776Gly)
c.2458A>G (p.Ser820Gly)
c.2323A>G (p.Ser775Gly)
n.2619A>G
 gnomAD v4
2g.71564067A>TCA347211112DYSFc.2365A>T (p.Ser789Cys)
c.2419A>T (p.Ser807Cys)
c.2368A>T (p.Ser790Cys)
c.2416A>T (p.Ser806Cys)
c.2461A>T (p.Ser821Cys)
c.2326A>T (p.Ser776Cys)
c.2458A>T (p.Ser820Cys)
c.2323A>T (p.Ser775Cys)
n.2619A>T
2g.71564068G>ACA347211115DYSFc.2366G>A (p.Ser789Asn)
c.2420G>A (p.Ser807Asn)
c.2369G>A (p.Ser790Asn)
c.2417G>A (p.Ser806Asn)
c.2462G>A (p.Ser821Asn)
c.2327G>A (p.Ser776Asn)
c.2459G>A (p.Ser820Asn)
c.2324G>A (p.Ser775Asn)
n.2620G>A
2g.71564068G>CCA10606089DYSFc.2366G>C (p.Ser789Thr)
c.2420G>C (p.Ser807Thr)
c.2369G>C (p.Ser790Thr)
c.2417G>C (p.Ser806Thr)
c.2462G>C (p.Ser821Thr)
c.2327G>C (p.Ser776Thr)
c.2459G>C (p.Ser820Thr)
c.2324G>C (p.Ser775Thr)
n.2620G>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.71564068G=CA1260100559DYSFc.2366G= (p.Ser789=)
c.2420G= (p.Ser807=)
c.2369G= (p.Ser790=)
c.2417G= (p.Ser806=)
c.2462G= (p.Ser821=)
c.2327G= (p.Ser776=)
c.2459G= (p.Ser820=)
c.2324G= (p.Ser775=)
n.2620G=
2g.71564068G>TCA347211118DYSFc.2366G>T (p.Ser789Ile)
c.2420G>T (p.Ser807Ile)
c.2369G>T (p.Ser790Ile)
c.2417G>T (p.Ser806Ile)
c.2462G>T (p.Ser821Ile)
c.2327G>T (p.Ser776Ile)
c.2459G>T (p.Ser820Ile)
c.2324G>T (p.Ser775Ile)
n.2620G>T
2g.71564069C>ACA347211124DYSFc.2367C>A (p.Ser789Arg)
c.2421C>A (p.Ser807Arg)
c.2370C>A (p.Ser790Arg)
c.2418C>A (p.Ser806Arg)
c.2463C>A (p.Ser821Arg)
c.2328C>A (p.Ser776Arg)
c.2460C>A (p.Ser820Arg)
c.2325C>A (p.Ser775Arg)
n.2621C>A
2g.71564069C=CA1260100569DYSFc.2367C= (p.Ser789=)
c.2421C= (p.Ser807=)
c.2370C= (p.Ser790=)
c.2418C= (p.Ser806=)
c.2463C= (p.Ser821=)
c.2328C= (p.Ser776=)
c.2460C= (p.Ser820=)
c.2325C= (p.Ser775=)
n.2621C=
2g.71564069C>GCA347211122DYSFc.2367C>G (p.Ser789Arg)
c.2421C>G (p.Ser807Arg)
c.2370C>G (p.Ser790Arg)
c.2418C>G (p.Ser806Arg)
c.2463C>G (p.Ser821Arg)
c.2328C>G (p.Ser776Arg)
c.2460C>G (p.Ser820Arg)
c.2325C>G (p.Ser775Arg)
n.2621C>G
 gnomAD v4
2g.71564069C>TCA1706173DYSFc.2367C>T (p.Ser789=)
c.2421C>T (p.Ser807=)
c.2370C>T (p.Ser790=)
c.2418C>T (p.Ser806=)
c.2463C>T (p.Ser821=)
c.2328C>T (p.Ser776=)
c.2460C>T (p.Ser820=)
c.2325C>T (p.Ser775=)
n.2621C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71564070C>ACA347211126DYSFc.2368C>A (p.Leu790Met)
c.2422C>A (p.Leu808Met)
c.2371C>A (p.Leu791Met)
c.2419C>A (p.Leu807Met)
c.2464C>A (p.Leu822Met)
c.2329C>A (p.Leu777Met)
c.2461C>A (p.Leu821Met)
c.2326C>A (p.Leu776Met)
n.2622C>A
 COSMIC COSMIC
2g.71564070C>GCA347211128DYSFc.2368C>G (p.Leu790Val)
c.2422C>G (p.Leu808Val)
c.2371C>G (p.Leu791Val)
c.2419C>G (p.Leu807Val)
c.2464C>G (p.Leu822Val)
c.2329C>G (p.Leu777Val)
c.2461C>G (p.Leu821Val)
c.2326C>G (p.Leu776Val)
n.2622C>G
2g.71564070C>TCA426701660DYSFc.2368C>T (p.Leu790=)
c.2422C>T (p.Leu808=)
c.2371C>T (p.Leu791=)
c.2419C>T (p.Leu807=)
c.2464C>T (p.Leu822=)
c.2329C>T (p.Leu777=)
c.2461C>T (p.Leu821=)
c.2326C>T (p.Leu776=)
n.2622C>T
2g.71564071T>ACA347211137DYSFc.2369T>A (p.Leu790Gln)
c.2423T>A (p.Leu808Gln)
c.2372T>A (p.Leu791Gln)
c.2420T>A (p.Leu807Gln)
c.2465T>A (p.Leu822Gln)
c.2330T>A (p.Leu777Gln)
c.2462T>A (p.Leu821Gln)
c.2327T>A (p.Leu776Gln)
n.2623T>A
2g.71564071T>CCA347211138DYSFc.2369T>C (p.Leu790Pro)
c.2423T>C (p.Leu808Pro)
c.2372T>C (p.Leu791Pro)
c.2420T>C (p.Leu807Pro)
c.2465T>C (p.Leu822Pro)
c.2330T>C (p.Leu777Pro)
c.2462T>C (p.Leu821Pro)
c.2327T>C (p.Leu776Pro)
n.2623T>C
2g.71564071T>GCA347211139DYSFc.2369T>G (p.Leu790Arg)
c.2423T>G (p.Leu808Arg)
c.2372T>G (p.Leu791Arg)
c.2420T>G (p.Leu807Arg)
c.2465T>G (p.Leu822Arg)
c.2330T>G (p.Leu777Arg)
c.2462T>G (p.Leu821Arg)
c.2327T>G (p.Leu776Arg)
n.2623T>G
2g.71564072G>ACA426701662DYSFc.2370G>A (p.Leu790=)
c.2424G>A (p.Leu808=)
c.2373G>A (p.Leu791=)
c.2421G>A (p.Leu807=)
c.2466G>A (p.Leu822=)
c.2331G>A (p.Leu777=)
c.2463G>A (p.Leu821=)
c.2328G>A (p.Leu776=)
n.2624G>A
 ClinVar gnomAD v4
2g.71564072G>CCA426701661DYSFc.2370G>C (p.Leu790=)
c.2424G>C (p.Leu808=)
c.2373G>C (p.Leu791=)
c.2421G>C (p.Leu807=)
c.2466G>C (p.Leu822=)
c.2331G>C (p.Leu777=)
c.2463G>C (p.Leu821=)
c.2328G>C (p.Leu776=)
n.2624G>C
2g.71564072G=CA1260100579DYSFc.2370G= (p.Leu790=)
c.2424G= (p.Leu808=)
c.2373G= (p.Leu791=)
c.2421G= (p.Leu807=)
c.2466G= (p.Leu822=)
c.2331G= (p.Leu777=)
c.2463G= (p.Leu821=)
c.2328G= (p.Leu776=)
n.2624G=
2g.71564072G>TCA1706174DYSFc.2370G>T (p.Leu790=)
c.2424G>T (p.Leu808=)
c.2373G>T (p.Leu791=)
c.2421G>T (p.Leu807=)
c.2466G>T (p.Leu822=)
c.2331G>T (p.Leu777=)
c.2463G>T (p.Leu821=)
c.2328G>T (p.Leu776=)
n.2624G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71564073C>ACA347211143DYSFc.2371C>A (p.Pro791Thr)
c.2425C>A (p.Pro809Thr)
c.2374C>A (p.Pro792Thr)
c.2422C>A (p.Pro808Thr)
c.2467C>A (p.Pro823Thr)
c.2332C>A (p.Pro778Thr)
c.2464C>A (p.Pro822Thr)
c.2329C>A (p.Pro777Thr)
n.2625C>A
2g.71564073C=CA1260100595DYSFc.2371C= (p.Pro791=)
c.2425C= (p.Pro809=)
c.2374C= (p.Pro792=)
c.2422C= (p.Pro808=)
c.2467C= (p.Pro823=)
c.2332C= (p.Pro778=)
c.2464C= (p.Pro822=)
c.2329C= (p.Pro777=)
n.2625C=
2g.71564073C>GCA347211146DYSFc.2371C>G (p.Pro791Ala)
c.2425C>G (p.Pro809Ala)
c.2374C>G (p.Pro792Ala)
c.2422C>G (p.Pro808Ala)
c.2467C>G (p.Pro823Ala)
c.2332C>G (p.Pro778Ala)
c.2464C>G (p.Pro822Ala)
c.2329C>G (p.Pro777Ala)
n.2625C>G
2g.71564073C>TCA347211148DYSFc.2371C>T (p.Pro791Ser)
c.2425C>T (p.Pro809Ser)
c.2374C>T (p.Pro792Ser)
c.2422C>T (p.Pro808Ser)
c.2467C>T (p.Pro823Ser)
c.2332C>T (p.Pro778Ser)
c.2464C>T (p.Pro822Ser)
c.2329C>T (p.Pro777Ser)
n.2625C>T
 dbSNP COSMIC COSMIC
2g.71564074dupCA1706175DYSFc.2372dup (p.Asp792GlyfsTer?)
c.2426dup (p.Asp810GlyfsTer?)
c.2375dup (p.Asp793GlyfsTer?)
c.2423dup (p.Asp809GlyfsTer?)
c.2468dup (p.Asp824GlyfsTer?)
c.2333dup (p.Asp779GlyfsTer?)
c.2465dup (p.Asp823GlyfsTer?)
c.2330dup (p.Asp778GlyfsTer?)
n.2626dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.71564074C>ACA347211150DYSFc.2372C>A (p.Pro791Gln)
c.2426C>A (p.Pro809Gln)
c.2375C>A (p.Pro792Gln)
c.2423C>A (p.Pro808Gln)
c.2468C>A (p.Pro823Gln)
c.2333C>A (p.Pro778Gln)
c.2465C>A (p.Pro822Gln)
c.2330C>A (p.Pro777Gln)
n.2626C>A
 dbSNP gnomAD v2
2g.71564074C=CA1260100602DYSFc.2372C= (p.Pro791=)
c.2426C= (p.Pro809=)
c.2375C= (p.Pro792=)
c.2423C= (p.Pro808=)
c.2468C= (p.Pro823=)
c.2333C= (p.Pro778=)
c.2465C= (p.Pro822=)
c.2330C= (p.Pro777=)
n.2626C=
2g.71564074C>GCA222139DYSFc.2372C>G (p.Pro791Arg)
c.2426C>G (p.Pro809Arg)
c.2375C>G (p.Pro792Arg)
c.2423C>G (p.Pro808Arg)
c.2468C>G (p.Pro823Arg)
c.2333C>G (p.Pro778Arg)
c.2465C>G (p.Pro822Arg)
c.2330C>G (p.Pro777Arg)
n.2626C>G
 ClinVar dbSNP
2g.71564074C>TCA49742304DYSFc.2372C>T (p.Pro791Leu)
c.2426C>T (p.Pro809Leu)
c.2375C>T (p.Pro792Leu)
c.2423C>T (p.Pro808Leu)
c.2468C>T (p.Pro823Leu)
c.2333C>T (p.Pro778Leu)
c.2465C>T (p.Pro822Leu)
c.2330C>T (p.Pro777Leu)
n.2626C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.71564075G>ACA1706176DYSFc.2373G>A (p.Pro791=)
c.2427G>A (p.Pro809=)
c.2376G>A (p.Pro792=)
c.2424G>A (p.Pro808=)
c.2469G>A (p.Pro823=)
c.2334G>A (p.Pro778=)
c.2466G>A (p.Pro822=)
c.2331G>A (p.Pro777=)
n.2627G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71564075G>CCA426701663DYSFc.2373G>C (p.Pro791=)
c.2427G>C (p.Pro809=)
c.2376G>C (p.Pro792=)
c.2424G>C (p.Pro808=)
c.2469G>C (p.Pro823=)
c.2334G>C (p.Pro778=)
c.2466G>C (p.Pro822=)
c.2331G>C (p.Pro777=)
n.2627G>C
2g.71564075G=CA1260100610DYSFc.2373G= (p.Pro791=)
c.2427G= (p.Pro809=)
c.2376G= (p.Pro792=)
c.2424G= (p.Pro808=)
c.2469G= (p.Pro823=)
c.2334G= (p.Pro778=)
c.2466G= (p.Pro822=)
c.2331G= (p.Pro777=)
n.2627G=
2g.71564075G>TCA426701664DYSFc.2373G>T (p.Pro791=)
c.2427G>T (p.Pro809=)
c.2376G>T (p.Pro792=)
c.2424G>T (p.Pro808=)
c.2469G>T (p.Pro823=)
c.2334G>T (p.Pro778=)
c.2466G>T (p.Pro822=)
c.2331G>T (p.Pro777=)
n.2627G>T
 COSMIC COSMIC
2g.71564076G>ACA347211157DYSFc.2374G>A (p.Asp792Asn)
c.2428G>A (p.Asp810Asn)
c.2377G>A (p.Asp793Asn)
c.2425G>A (p.Asp809Asn)
c.2470G>A (p.Asp824Asn)
c.2335G>A (p.Asp779Asn)
c.2467G>A (p.Asp823Asn)
c.2332G>A (p.Asp778Asn)
n.2628G>A
2g.71564076G>CCA347211155DYSFc.2374G>C (p.Asp792His)
c.2428G>C (p.Asp810His)
c.2377G>C (p.Asp793His)
c.2425G>C (p.Asp809His)
c.2470G>C (p.Asp824His)
c.2335G>C (p.Asp779His)
c.2467G>C (p.Asp823His)
c.2332G>C (p.Asp778His)
n.2628G>C
2g.71564076G>TCA347211153DYSFc.2374G>T (p.Asp792Tyr)
c.2428G>T (p.Asp810Tyr)
c.2377G>T (p.Asp793Tyr)
c.2425G>T (p.Asp809Tyr)
c.2470G>T (p.Asp824Tyr)
c.2335G>T (p.Asp779Tyr)
c.2467G>T (p.Asp823Tyr)
c.2332G>T (p.Asp778Tyr)
n.2628G>T
2g.71564077A>CCA347211159DYSFc.2375A>C (p.Asp792Ala)
c.2429A>C (p.Asp810Ala)
c.2378A>C (p.Asp793Ala)
c.2426A>C (p.Asp809Ala)
c.2471A>C (p.Asp824Ala)
c.2336A>C (p.Asp779Ala)
c.2468A>C (p.Asp823Ala)
c.2333A>C (p.Asp778Ala)
n.2629A>C
 gnomAD v4
2g.71564077A>GCA347211161DYSFc.2375A>G (p.Asp792Gly)
c.2429A>G (p.Asp810Gly)
c.2378A>G (p.Asp793Gly)
c.2426A>G (p.Asp809Gly)
c.2471A>G (p.Asp824Gly)
c.2336A>G (p.Asp779Gly)
c.2468A>G (p.Asp823Gly)
c.2333A>G (p.Asp778Gly)
n.2629A>G
2g.71564077A>TCA347211163DYSFc.2375A>T (p.Asp792Val)
c.2429A>T (p.Asp810Val)
c.2378A>T (p.Asp793Val)
c.2426A>T (p.Asp809Val)
c.2471A>T (p.Asp824Val)
c.2336A>T (p.Asp779Val)
c.2468A>T (p.Asp823Val)
c.2333A>T (p.Asp778Val)
n.2629A>T
2g.71564078C>ACA347211167DYSFc.2376C>A (p.Asp792Glu)
c.2430C>A (p.Asp810Glu)
c.2379C>A (p.Asp793Glu)
c.2427C>A (p.Asp809Glu)
c.2472C>A (p.Asp824Glu)
c.2337C>A (p.Asp779Glu)
c.2469C>A (p.Asp823Glu)
c.2334C>A (p.Asp778Glu)
n.2630C>A
2g.71564078C>GCA347211169DYSFc.2376C>G (p.Asp792Glu)
c.2430C>G (p.Asp810Glu)
c.2379C>G (p.Asp793Glu)
c.2427C>G (p.Asp809Glu)
c.2472C>G (p.Asp824Glu)
c.2337C>G (p.Asp779Glu)
c.2469C>G (p.Asp823Glu)
c.2334C>G (p.Asp778Glu)
n.2630C>G
2g.71564078C>TCA426701665DYSFc.2376C>T (p.Asp792=)
c.2430C>T (p.Asp810=)
c.2379C>T (p.Asp793=)
c.2427C>T (p.Asp809=)
c.2472C>T (p.Asp824=)
c.2337C>T (p.Asp779=)
c.2469C>T (p.Asp823=)
c.2334C>T (p.Asp778=)
n.2630C>T
2g.71564079A>CCA347211171DYSFc.2377A>C (p.Ile793Leu)
c.2431A>C (p.Ile811Leu)
c.2380A>C (p.Ile794Leu)
c.2428A>C (p.Ile810Leu)
c.2473A>C (p.Ile825Leu)
c.2338A>C (p.Ile780Leu)
c.2470A>C (p.Ile824Leu)
c.2335A>C (p.Ile779Leu)
n.2631A>C
2g.71564079A>GCA347211173DYSFc.2377A>G (p.Ile793Val)
c.2431A>G (p.Ile811Val)
c.2380A>G (p.Ile794Val)
c.2428A>G (p.Ile810Val)
c.2473A>G (p.Ile825Val)
c.2338A>G (p.Ile780Val)
c.2470A>G (p.Ile824Val)
c.2335A>G (p.Ile779Val)
n.2631A>G
 gnomAD v4
2g.71564079A>TCA347211175DYSFc.2377A>T (p.Ile793Phe)
c.2431A>T (p.Ile811Phe)
c.2380A>T (p.Ile794Phe)
c.2428A>T (p.Ile810Phe)
c.2473A>T (p.Ile825Phe)
c.2338A>T (p.Ile780Phe)
c.2470A>T (p.Ile824Phe)
c.2335A>T (p.Ile779Phe)
n.2631A>T
2g.71564080T>ACA347211177DYSFc.2378T>A (p.Ile793Asn)
c.2432T>A (p.Ile811Asn)
c.2381T>A (p.Ile794Asn)
c.2429T>A (p.Ile810Asn)
c.2474T>A (p.Ile825Asn)
c.2339T>A (p.Ile780Asn)
c.2471T>A (p.Ile824Asn)
c.2336T>A (p.Ile779Asn)
n.2632T>A
2g.71564080T>CCA347211179DYSFc.2378T>C (p.Ile793Thr)
c.2432T>C (p.Ile811Thr)
c.2381T>C (p.Ile794Thr)
c.2429T>C (p.Ile810Thr)
c.2474T>C (p.Ile825Thr)
c.2339T>C (p.Ile780Thr)
c.2471T>C (p.Ile824Thr)
c.2336T>C (p.Ile779Thr)
n.2632T>C
 COSMIC COSMIC
2g.71564080T>GCA347211182DYSFc.2378T>G (p.Ile793Ser)
c.2432T>G (p.Ile811Ser)
c.2381T>G (p.Ile794Ser)
c.2429T>G (p.Ile810Ser)
c.2474T>G (p.Ile825Ser)
c.2339T>G (p.Ile780Ser)
c.2471T>G (p.Ile824Ser)
c.2336T>G (p.Ile779Ser)
n.2632T>G
2g.71564081C>ACA426701666DYSFc.2379C>A (p.Ile793=)
c.2433C>A (p.Ile811=)
c.2382C>A (p.Ile794=)
c.2430C>A (p.Ile810=)
c.2475C>A (p.Ile825=)
c.2340C>A (p.Ile780=)
c.2472C>A (p.Ile824=)
c.2337C>A (p.Ile779=)
n.2633C>A
2g.71564081C=CA1260100616DYSFc.2379C= (p.Ile793=)
c.2433C= (p.Ile811=)
c.2382C= (p.Ile794=)
c.2430C= (p.Ile810=)
c.2475C= (p.Ile825=)
c.2340C= (p.Ile780=)
c.2472C= (p.Ile824=)
c.2337C= (p.Ile779=)
n.2633C=
2g.71564081C>GCA347211184DYSFc.2379C>G (p.Ile793Met)
c.2433C>G (p.Ile811Met)
c.2382C>G (p.Ile794Met)
c.2430C>G (p.Ile810Met)
c.2475C>G (p.Ile825Met)
c.2340C>G (p.Ile780Met)
c.2472C>G (p.Ile824Met)
c.2337C>G (p.Ile779Met)
n.2633C>G
2g.71564081C>TCA1706177DYSFc.2379C>T (p.Ile793=)
c.2433C>T (p.Ile811=)
c.2382C>T (p.Ile794=)
c.2430C>T (p.Ile810=)
c.2475C>T (p.Ile825=)
c.2340C>T (p.Ile780=)
c.2472C>T (p.Ile824=)
c.2337C>T (p.Ile779=)
n.2633C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.71564082G>ACA1706178DYSFc.2380G>A (p.Val794Ile)
c.2434G>A (p.Val812Ile)
c.2383G>A (p.Val795Ile)
c.2431G>A (p.Val811Ile)
c.2476G>A (p.Val826Ile)
c.2341G>A (p.Val781Ile)
c.2473G>A (p.Val825Ile)
c.2338G>A (p.Val780Ile)
n.2634G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71564082G>CCA347211192DYSFc.2380G>C (p.Val794Leu)
c.2434G>C (p.Val812Leu)
c.2383G>C (p.Val795Leu)
c.2431G>C (p.Val811Leu)
c.2476G>C (p.Val826Leu)
c.2341G>C (p.Val781Leu)
c.2473G>C (p.Val825Leu)
c.2338G>C (p.Val780Leu)
n.2634G>C
2g.71564082G=CA1260100622DYSFc.2380G= (p.Val794=)
c.2434G= (p.Val812=)
c.2383G= (p.Val795=)
c.2431G= (p.Val811=)
c.2476G= (p.Val826=)
c.2341G= (p.Val781=)
c.2473G= (p.Val825=)
c.2338G= (p.Val780=)
n.2634G=
2g.71564082G>TCA347211191DYSFc.2380G>T (p.Val794Phe)
c.2434G>T (p.Val812Phe)
c.2383G>T (p.Val795Phe)
c.2431G>T (p.Val811Phe)
c.2476G>T (p.Val826Phe)
c.2341G>T (p.Val781Phe)
c.2473G>T (p.Val825Phe)
c.2338G>T (p.Val780Phe)
n.2634G>T
2g.71564083T>ACA347211196DYSFc.2381T>A (p.Val794Asp)
c.2435T>A (p.Val812Asp)
c.2384T>A (p.Val795Asp)
c.2432T>A (p.Val811Asp)
c.2477T>A (p.Val826Asp)
c.2342T>A (p.Val781Asp)
c.2474T>A (p.Val825Asp)
c.2339T>A (p.Val780Asp)
n.2635T>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.71564083T>CCA347211198DYSFc.2381T>C (p.Val794Ala)
c.2435T>C (p.Val812Ala)
c.2384T>C (p.Val795Ala)
c.2432T>C (p.Val811Ala)
c.2477T>C (p.Val826Ala)
c.2342T>C (p.Val781Ala)
c.2474T>C (p.Val825Ala)
c.2339T>C (p.Val780Ala)
n.2635T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71564083T>GCA347211200DYSFc.2381T>G (p.Val794Gly)
c.2435T>G (p.Val812Gly)
c.2384T>G (p.Val795Gly)
c.2432T>G (p.Val811Gly)
c.2477T>G (p.Val826Gly)
c.2342T>G (p.Val781Gly)
c.2474T>G (p.Val825Gly)
c.2339T>G (p.Val780Gly)
n.2635T>G
2g.71564083T=CA1260100630DYSFc.2381T= (p.Val794=)
c.2435T= (p.Val812=)
c.2384T= (p.Val795=)
c.2432T= (p.Val811=)
c.2477T= (p.Val826=)
c.2342T= (p.Val781=)
c.2474T= (p.Val825=)
c.2339T= (p.Val780=)
n.2635T=
2g.71564084C>ACA426701667DYSFc.2382C>A (p.Val794=)
c.2436C>A (p.Val812=)
c.2385C>A (p.Val795=)
c.2433C>A (p.Val811=)
c.2478C>A (p.Val826=)
c.2343C>A (p.Val781=)
c.2475C>A (p.Val825=)
c.2340C>A (p.Val780=)
n.2636C>A
2g.71564084C=CA1260100635DYSFc.2382C= (p.Val794=)
c.2436C= (p.Val812=)
c.2385C= (p.Val795=)
c.2433C= (p.Val811=)
c.2478C= (p.Val826=)
c.2343C= (p.Val781=)
c.2475C= (p.Val825=)
c.2340C= (p.Val780=)
n.2636C=
2g.71564084C>GCA426701668DYSFc.2382C>G (p.Val794=)
c.2436C>G (p.Val812=)
c.2385C>G (p.Val795=)
c.2433C>G (p.Val811=)
c.2478C>G (p.Val826=)
c.2343C>G (p.Val781=)
c.2475C>G (p.Val825=)
c.2340C>G (p.Val780=)
n.2636C>G
2g.71564084C>TCA49742309DYSFc.2382C>T (p.Val794=)
c.2436C>T (p.Val812=)
c.2385C>T (p.Val795=)
c.2433C>T (p.Val811=)
c.2478C>T (p.Val826=)
c.2343C>T (p.Val781=)
c.2475C>T (p.Val825=)
c.2340C>T (p.Val780=)
n.2636C>T
 ClinVar dbSNP COSMIC COSMIC
2g.71564085A>CCA347211203DYSFc.2383A>C (p.Ile795Leu)
c.2437A>C (p.Ile813Leu)
c.2386A>C (p.Ile796Leu)
c.2434A>C (p.Ile812Leu)
c.2479A>C (p.Ile827Leu)
c.2344A>C (p.Ile782Leu)
c.2476A>C (p.Ile826Leu)
c.2341A>C (p.Ile781Leu)
n.2637A>C
 gnomAD v4
2g.71564085A>GCA347211204DYSFc.2383A>G (p.Ile795Val)
c.2437A>G (p.Ile813Val)
c.2386A>G (p.Ile796Val)
c.2434A>G (p.Ile812Val)
c.2479A>G (p.Ile827Val)
c.2344A>G (p.Ile782Val)
c.2476A>G (p.Ile826Val)
c.2341A>G (p.Ile781Val)
n.2637A>G
2g.71564085A>TCA347211207DYSFc.2383A>T (p.Ile795Phe)
c.2437A>T (p.Ile813Phe)
c.2386A>T (p.Ile796Phe)
c.2434A>T (p.Ile812Phe)
c.2479A>T (p.Ile827Phe)
c.2344A>T (p.Ile782Phe)
c.2476A>T (p.Ile826Phe)
c.2341A>T (p.Ile781Phe)
n.2637A>T
2g.71564086T>ACA347211211DYSFc.2384T>A (p.Ile795Asn)
c.2438T>A (p.Ile813Asn)
c.2387T>A (p.Ile796Asn)
c.2435T>A (p.Ile812Asn)
c.2480T>A (p.Ile827Asn)
c.2345T>A (p.Ile782Asn)
c.2477T>A (p.Ile826Asn)
c.2342T>A (p.Ile781Asn)
n.2638T>A
 dbSNP gnomAD v2 gnomAD v4
2g.71564086T>CCA347211213DYSFc.2384T>C (p.Ile795Thr)
c.2438T>C (p.Ile813Thr)
c.2387T>C (p.Ile796Thr)
c.2435T>C (p.Ile812Thr)
c.2480T>C (p.Ile827Thr)
c.2345T>C (p.Ile782Thr)
c.2477T>C (p.Ile826Thr)
c.2342T>C (p.Ile781Thr)
n.2638T>C
2g.71564086T>GCA347211215DYSFc.2384T>G (p.Ile795Ser)
c.2438T>G (p.Ile813Ser)
c.2387T>G (p.Ile796Ser)
c.2435T>G (p.Ile812Ser)
c.2480T>G (p.Ile827Ser)
c.2345T>G (p.Ile782Ser)
c.2477T>G (p.Ile826Ser)
c.2342T>G (p.Ile781Ser)
n.2638T>G
2g.71564086T=CA1260100642DYSFc.2384T= (p.Ile795=)
c.2438T= (p.Ile813=)
c.2387T= (p.Ile796=)
c.2435T= (p.Ile812=)
c.2480T= (p.Ile827=)
c.2345T= (p.Ile782=)
c.2477T= (p.Ile826=)
c.2342T= (p.Ile781=)
n.2638T=
2g.71564087C>ACA426701669DYSFc.2385C>A (p.Ile795=)
c.2439C>A (p.Ile813=)
c.2388C>A (p.Ile796=)
c.2436C>A (p.Ile812=)
c.2481C>A (p.Ile827=)
c.2346C>A (p.Ile782=)
c.2478C>A (p.Ile826=)
c.2343C>A (p.Ile781=)
n.2639C>A
2g.71564087C=CA1260100646DYSFc.2385C= (p.Ile795=)
c.2439C= (p.Ile813=)
c.2388C= (p.Ile796=)
c.2436C= (p.Ile812=)
c.2481C= (p.Ile827=)
c.2346C= (p.Ile782=)
c.2478C= (p.Ile826=)
c.2343C= (p.Ile781=)
n.2639C=
2g.71564087C>GCA347211217DYSFc.2385C>G (p.Ile795Met)
c.2439C>G (p.Ile813Met)
c.2388C>G (p.Ile796Met)
c.2436C>G (p.Ile812Met)
c.2481C>G (p.Ile827Met)
c.2346C>G (p.Ile782Met)
c.2478C>G (p.Ile826Met)
c.2343C>G (p.Ile781Met)
n.2639C>G
 ClinVar dbSNP
2g.71564087C>TCA426701670DYSFc.2385C>T (p.Ile795=)
c.2439C>T (p.Ile813=)
c.2388C>T (p.Ile796=)
c.2436C>T (p.Ile812=)
c.2481C>T (p.Ile827=)
c.2346C>T (p.Ile782=)
c.2478C>T (p.Ile826=)
c.2343C>T (p.Ile781=)
n.2639C>T
 gnomAD v4 COSMIC COSMIC
2g.71564090_71564096delCA2586969473DYSFc.2388_2394del (p.Trp796CysfsTer?)
c.2442_2448del (p.Trp814CysfsTer?)
c.2391_2397del (p.Trp797CysfsTer?)
c.2439_2445del (p.Trp813CysfsTer?)
c.2484_2490del (p.Trp828CysfsTer?)
c.2349_2355del (p.Trp783CysfsTer?)
c.2481_2487del (p.Trp827CysfsTer?)
c.2346_2352del (p.Trp782CysfsTer?)
n.2642_2648del
2g.71564088T>ACA347211221DYSFc.2386T>A (p.Trp796Arg)
c.2440T>A (p.Trp814Arg)
c.2389T>A (p.Trp797Arg)
c.2437T>A (p.Trp813Arg)
c.2482T>A (p.Trp828Arg)
c.2347T>A (p.Trp783Arg)
c.2479T>A (p.Trp827Arg)
c.2344T>A (p.Trp782Arg)
n.2640T>A
2g.71564088T>CCA347211222DYSFc.2386T>C (p.Trp796Arg)
c.2440T>C (p.Trp814Arg)
c.2389T>C (p.Trp797Arg)
c.2437T>C (p.Trp813Arg)
c.2482T>C (p.Trp828Arg)
c.2347T>C (p.Trp783Arg)
c.2479T>C (p.Trp827Arg)
c.2344T>C (p.Trp782Arg)
n.2640T>C
2g.71564088T>GCA347211224DYSFc.2386T>G (p.Trp796Gly)
c.2440T>G (p.Trp814Gly)
c.2389T>G (p.Trp797Gly)
c.2437T>G (p.Trp813Gly)
c.2482T>G (p.Trp828Gly)
c.2347T>G (p.Trp783Gly)
c.2479T>G (p.Trp827Gly)
c.2344T>G (p.Trp782Gly)
n.2640T>G
2g.71564089G>ACA347211229DYSFc.2387G>A (p.Trp796Ter)
c.2441G>A (p.Trp814Ter)
c.2390G>A (p.Trp797Ter)
c.2438G>A (p.Trp813Ter)
c.2483G>A (p.Trp828Ter)
c.2348G>A (p.Trp783Ter)
c.2480G>A (p.Trp827Ter)
c.2345G>A (p.Trp782Ter)
n.2641G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71564089G>CCA347211231DYSFc.2387G>C (p.Trp796Ser)
c.2441G>C (p.Trp814Ser)
c.2390G>C (p.Trp797Ser)
c.2438G>C (p.Trp813Ser)
c.2483G>C (p.Trp828Ser)
c.2348G>C (p.Trp783Ser)
c.2480G>C (p.Trp827Ser)
c.2345G>C (p.Trp782Ser)
n.2641G>C
2g.71564089G=CA1260100650DYSFc.2387G= (p.Trp796=)
c.2441G= (p.Trp814=)
c.2390G= (p.Trp797=)
c.2438G= (p.Trp813=)
c.2483G= (p.Trp828=)
c.2348G= (p.Trp783=)
c.2480G= (p.Trp827=)
c.2345G= (p.Trp782=)
n.2641G=
2g.71564089G>TCA347211227DYSFc.2387G>T (p.Trp796Leu)
c.2441G>T (p.Trp814Leu)
c.2390G>T (p.Trp797Leu)
c.2438G>T (p.Trp813Leu)
c.2483G>T (p.Trp828Leu)
c.2348G>T (p.Trp783Leu)
c.2480G>T (p.Trp827Leu)
c.2345G>T (p.Trp782Leu)
n.2641G>T
2g.71564090G>ACA347211234DYSFc.2388G>A (p.Trp796Ter)
c.2442G>A (p.Trp814Ter)
c.2391G>A (p.Trp797Ter)
c.2439G>A (p.Trp813Ter)
c.2484G>A (p.Trp828Ter)
c.2349G>A (p.Trp783Ter)
c.2481G>A (p.Trp827Ter)
c.2346G>A (p.Trp782Ter)
n.2642G>A
 ClinVar dbSNP
2g.71564090G>CCA347211238DYSFc.2388G>C (p.Trp796Cys)
c.2442G>C (p.Trp814Cys)
c.2391G>C (p.Trp797Cys)
c.2439G>C (p.Trp813Cys)
c.2484G>C (p.Trp828Cys)
c.2349G>C (p.Trp783Cys)
c.2481G>C (p.Trp827Cys)
c.2346G>C (p.Trp782Cys)
n.2642G>C
2g.71564090G=CA1260100654DYSFc.2388G= (p.Trp796=)
c.2442G= (p.Trp814=)
c.2391G= (p.Trp797=)
c.2439G= (p.Trp813=)
c.2484G= (p.Trp828=)
c.2349G= (p.Trp783=)
c.2481G= (p.Trp827=)
c.2346G= (p.Trp782=)
n.2642G=
2g.71564090G>TCA347211236DYSFc.2388G>T (p.Trp796Cys)
c.2442G>T (p.Trp814Cys)
c.2391G>T (p.Trp797Cys)
c.2439G>T (p.Trp813Cys)
c.2484G>T (p.Trp828Cys)
c.2349G>T (p.Trp783Cys)
c.2481G>T (p.Trp827Cys)
c.2346G>T (p.Trp782Cys)
n.2642G>T
 dbSNP
2g.71564091A=CA1260100658DYSFc.2389A= (p.Met797=)
c.2443A= (p.Met815=)
c.2392A= (p.Met798=)
c.2440A= (p.Met814=)
c.2485A= (p.Met829=)
c.2350A= (p.Met784=)
c.2482A= (p.Met828=)
c.2347A= (p.Met783=)
n.2643A=
2g.71564091A>CCA347211240DYSFc.2389A>C (p.Met797Leu)
c.2443A>C (p.Met815Leu)
c.2392A>C (p.Met798Leu)
c.2440A>C (p.Met814Leu)
c.2485A>C (p.Met829Leu)
c.2350A>C (p.Met784Leu)
c.2482A>C (p.Met828Leu)
c.2347A>C (p.Met783Leu)
n.2643A>C
2g.71564091A>GCA347211242DYSFc.2389A>G (p.Met797Val)
c.2443A>G (p.Met815Val)
c.2392A>G (p.Met798Val)
c.2440A>G (p.Met814Val)
c.2485A>G (p.Met829Val)
c.2350A>G (p.Met784Val)
c.2482A>G (p.Met828Val)
c.2347A>G (p.Met783Val)
n.2643A>G
2g.71564091A>TCA347211244DYSFc.2389A>T (p.Met797Leu)
c.2443A>T (p.Met815Leu)
c.2392A>T (p.Met798Leu)
c.2440A>T (p.Met814Leu)
c.2485A>T (p.Met829Leu)
c.2350A>T (p.Met784Leu)
c.2482A>T (p.Met828Leu)
c.2347A>T (p.Met783Leu)
n.2643A>T
 dbSNP
2g.71564092T>ACA347211247DYSFc.2390T>A (p.Met797Lys)
c.2444T>A (p.Met815Lys)
c.2393T>A (p.Met798Lys)
c.2441T>A (p.Met814Lys)
c.2486T>A (p.Met829Lys)
c.2351T>A (p.Met784Lys)
c.2483T>A (p.Met828Lys)
c.2348T>A (p.Met783Lys)
n.2644T>A
 ClinVar dbSNP
2g.71564092T>CCA347211249DYSFc.2390T>C (p.Met797Thr)
c.2444T>C (p.Met815Thr)
c.2393T>C (p.Met798Thr)
c.2441T>C (p.Met814Thr)
c.2486T>C (p.Met829Thr)
c.2351T>C (p.Met784Thr)
c.2483T>C (p.Met828Thr)
c.2348T>C (p.Met783Thr)
n.2644T>C
2g.71564092T>GCA347211251DYSFc.2390T>G (p.Met797Arg)
c.2444T>G (p.Met815Arg)
c.2393T>G (p.Met798Arg)
c.2441T>G (p.Met814Arg)
c.2486T>G (p.Met829Arg)
c.2351T>G (p.Met784Arg)
c.2483T>G (p.Met828Arg)
c.2348T>G (p.Met783Arg)
n.2644T>G
2g.71564092T=CA1260100662DYSFc.2390T= (p.Met797=)
c.2444T= (p.Met815=)
c.2393T= (p.Met798=)
c.2441T= (p.Met814=)
c.2486T= (p.Met829=)
c.2351T= (p.Met784=)
c.2483T= (p.Met828=)
c.2348T= (p.Met783=)
n.2644T=
2g.71564093G>ACA347211254DYSFc.2391G>A (p.Met797Ile)
c.2445G>A (p.Met815Ile)
c.2394G>A (p.Met798Ile)
c.2442G>A (p.Met814Ile)
c.2487G>A (p.Met829Ile)
c.2352G>A (p.Met784Ile)
c.2484G>A (p.Met828Ile)
c.2349G>A (p.Met783Ile)
n.2645G>A
2g.71564093G>CCA347211255DYSFc.2391G>C (p.Met797Ile)
c.2445G>C (p.Met815Ile)
c.2394G>C (p.Met798Ile)
c.2442G>C (p.Met814Ile)
c.2487G>C (p.Met829Ile)
c.2352G>C (p.Met784Ile)
c.2484G>C (p.Met828Ile)
c.2349G>C (p.Met783Ile)
n.2645G>C
2g.71564093G>TCA347211258DYSFc.2391G>T (p.Met797Ile)
c.2445G>T (p.Met815Ile)
c.2394G>T (p.Met798Ile)
c.2442G>T (p.Met814Ile)
c.2487G>T (p.Met829Ile)
c.2352G>T (p.Met784Ile)
c.2484G>T (p.Met828Ile)
c.2349G>T (p.Met783Ile)
n.2645G>T
2g.71564094C>ACA347211260DYSFc.2392C>A (p.Leu798Met)
c.2446C>A (p.Leu816Met)
c.2395C>A (p.Leu799Met)
c.2443C>A (p.Leu815Met)
c.2488C>A (p.Leu830Met)
c.2353C>A (p.Leu785Met)
c.2485C>A (p.Leu829Met)
c.2350C>A (p.Leu784Met)
n.2646C>A
2g.71564094C>GCA347211262DYSFc.2392C>G (p.Leu798Val)
c.2446C>G (p.Leu816Val)
c.2395C>G (p.Leu799Val)
c.2443C>G (p.Leu815Val)
c.2488C>G (p.Leu830Val)
c.2353C>G (p.Leu785Val)
c.2485C>G (p.Leu829Val)
c.2350C>G (p.Leu784Val)
n.2646C>G
2g.71564094C>TCA426701671DYSFc.2392C>T (p.Leu798=)
c.2446C>T (p.Leu816=)
c.2395C>T (p.Leu799=)
c.2443C>T (p.Leu815=)
c.2488C>T (p.Leu830=)
c.2353C>T (p.Leu785=)
c.2485C>T (p.Leu829=)
c.2350C>T (p.Leu784=)
n.2646C>T
2g.71564095T>ACA347211266DYSFc.2393T>A (p.Leu798Gln)
c.2447T>A (p.Leu816Gln)
c.2396T>A (p.Leu799Gln)
c.2444T>A (p.Leu815Gln)
c.2489T>A (p.Leu830Gln)
c.2354T>A (p.Leu785Gln)
c.2486T>A (p.Leu829Gln)
c.2351T>A (p.Leu784Gln)
n.2647T>A
2g.71564095T>CCA347211263DYSFc.2393T>C (p.Leu798Pro)
c.2447T>C (p.Leu816Pro)
c.2396T>C (p.Leu799Pro)
c.2444T>C (p.Leu815Pro)
c.2489T>C (p.Leu830Pro)
c.2354T>C (p.Leu785Pro)
c.2486T>C (p.Leu829Pro)
c.2351T>C (p.Leu784Pro)
n.2647T>C
2g.71564095T>GCA347211264DYSFc.2393T>G (p.Leu798Arg)
c.2447T>G (p.Leu816Arg)
c.2396T>G (p.Leu799Arg)
c.2444T>G (p.Leu815Arg)
c.2489T>G (p.Leu830Arg)
c.2354T>G (p.Leu785Arg)
c.2486T>G (p.Leu829Arg)
c.2351T>G (p.Leu784Arg)
n.2647T>G
2g.71564096G>ACA426701672DYSFc.2394G>A (p.Leu798=)
c.2448G>A (p.Leu816=)
c.2397G>A (p.Leu799=)
c.2445G>A (p.Leu815=)
c.2490G>A (p.Leu830=)
c.2355G>A (p.Leu785=)
c.2487G>A (p.Leu829=)
c.2352G>A (p.Leu784=)
n.2648G>A
2g.71564096G>CCA426701673DYSFc.2394G>C (p.Leu798=)
c.2448G>C (p.Leu816=)
c.2397G>C (p.Leu799=)
c.2445G>C (p.Leu815=)
c.2490G>C (p.Leu830=)
c.2355G>C (p.Leu785=)
c.2487G>C (p.Leu829=)
c.2352G>C (p.Leu784=)
n.2648G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.71564096G=CA1260100663DYSFc.2394G= (p.Leu798=)
c.2448G= (p.Leu816=)
c.2397G= (p.Leu799=)
c.2445G= (p.Leu815=)
c.2490G= (p.Leu830=)
c.2355G= (p.Leu785=)
c.2487G= (p.Leu829=)
c.2352G= (p.Leu784=)
n.2648G=
2g.71564096G>TCA426701674DYSFc.2394G>T (p.Leu798=)
c.2448G>T (p.Leu816=)
c.2397G>T (p.Leu799=)
c.2445G>T (p.Leu815=)
c.2490G>T (p.Leu830=)
c.2355G>T (p.Leu785=)
c.2487G>T (p.Leu829=)
c.2352G>T (p.Leu784=)
n.2648G>T
 gnomAD v4
2g.71564097C>ACA347211268DYSFc.2395C>A (p.Gln799Lys)
c.2449C>A (p.Gln817Lys)
c.2398C>A (p.Gln800Lys)
c.2446C>A (p.Gln816Lys)
c.2491C>A (p.Gln831Lys)
c.2356C>A (p.Gln786Lys)
c.2488C>A (p.Gln830Lys)
c.2353C>A (p.Gln785Lys)
n.2649C>A
2g.71564097C>GCA347211270DYSFc.2395C>G (p.Gln799Glu)
c.2449C>G (p.Gln817Glu)
c.2398C>G (p.Gln800Glu)
c.2446C>G (p.Gln816Glu)
c.2491C>G (p.Gln831Glu)
c.2356C>G (p.Gln786Glu)
c.2488C>G (p.Gln830Glu)
c.2353C>G (p.Gln785Glu)
n.2649C>G
2g.71564097C>TCA347211272DYSFc.2395C>T (p.Gln799Ter)
c.2449C>T (p.Gln817Ter)
c.2398C>T (p.Gln800Ter)
c.2446C>T (p.Gln816Ter)
c.2491C>T (p.Gln831Ter)
c.2356C>T (p.Gln786Ter)
c.2488C>T (p.Gln830Ter)
c.2353C>T (p.Gln785Ter)
n.2649C>T
2g.71564098A>CCA347211274DYSFc.2396A>C (p.Gln799Pro)
c.2450A>C (p.Gln817Pro)
c.2399A>C (p.Gln800Pro)
c.2447A>C (p.Gln816Pro)
c.2492A>C (p.Gln831Pro)
c.2357A>C (p.Gln786Pro)
c.2489A>C (p.Gln830Pro)
c.2354A>C (p.Gln785Pro)
n.2650A>C
2g.71564098A>GCA347211276DYSFc.2396A>G (p.Gln799Arg)
c.2450A>G (p.Gln817Arg)
c.2399A>G (p.Gln800Arg)
c.2447A>G (p.Gln816Arg)
c.2492A>G (p.Gln831Arg)
c.2357A>G (p.Gln786Arg)
c.2489A>G (p.Gln830Arg)
c.2354A>G (p.Gln785Arg)
n.2650A>G
 ClinVar
2g.71564098A>TCA347211279DYSFc.2396A>T (p.Gln799Leu)
c.2450A>T (p.Gln817Leu)
c.2399A>T (p.Gln800Leu)
c.2447A>T (p.Gln816Leu)
c.2492A>T (p.Gln831Leu)
c.2357A>T (p.Gln786Leu)
c.2489A>T (p.Gln830Leu)
c.2354A>T (p.Gln785Leu)
n.2650A>T
2g.71564099G>ACA426701675DYSFc.2397G>A (p.Gln799=)
c.2451G>A (p.Gln817=)
c.2400G>A (p.Gln800=)
c.2448G>A (p.Gln816=)
c.2493G>A (p.Gln831=)
c.2358G>A (p.Gln786=)
c.2490G>A (p.Gln830=)
c.2355G>A (p.Gln785=)
n.2651G>A
 COSMIC COSMIC
2g.71564099G>CCA347211281DYSFc.2397G>C (p.Gln799His)
c.2451G>C (p.Gln817His)
c.2400G>C (p.Gln800His)
c.2448G>C (p.Gln816His)
c.2493G>C (p.Gln831His)
c.2358G>C (p.Gln786His)
c.2490G>C (p.Gln830His)
c.2355G>C (p.Gln785His)
n.2651G>C
2g.71564099G>TCA347211283DYSFc.2397G>T (p.Gln799His)
c.2451G>T (p.Gln817His)
c.2400G>T (p.Gln800His)
c.2448G>T (p.Gln816His)
c.2493G>T (p.Gln831His)
c.2358G>T (p.Gln786His)
c.2490G>T (p.Gln830His)
c.2355G>T (p.Gln785His)
n.2651G>T
2g.71564100G>ACA347211285DYSFc.2398G>A (p.Gly800Arg)
c.2452G>A (p.Gly818Arg)
c.2401G>A (p.Gly801Arg)
c.2449G>A (p.Gly817Arg)
c.2494G>A (p.Gly832Arg)
c.2359G>A (p.Gly787Arg)
c.2491G>A (p.Gly831Arg)
c.2356G>A (p.Gly786Arg)
n.2652G>A
2g.71564100G>CCA347211287DYSFc.2398G>C (p.Gly800Arg)
c.2452G>C (p.Gly818Arg)
c.2401G>C (p.Gly801Arg)
c.2449G>C (p.Gly817Arg)
c.2494G>C (p.Gly832Arg)
c.2359G>C (p.Gly787Arg)
c.2491G>C (p.Gly831Arg)
c.2356G>C (p.Gly786Arg)
n.2652G>C
2g.71564100G>TCA347211289DYSFc.2398G>T (p.Gly800Ter)
c.2452G>T (p.Gly818Ter)
c.2401G>T (p.Gly801Ter)
c.2449G>T (p.Gly817Ter)
c.2494G>T (p.Gly832Ter)
c.2359G>T (p.Gly787Ter)
c.2491G>T (p.Gly831Ter)
c.2356G>T (p.Gly786Ter)
n.2652G>T
2g.71564101G>ACA347211292DYSFc.2399G>A (p.Gly800Glu)
c.2453G>A (p.Gly818Glu)
c.2402G>A (p.Gly801Glu)
c.2450G>A (p.Gly817Glu)
c.2495G>A (p.Gly832Glu)
c.2360G>A (p.Gly787Glu)
c.2492G>A (p.Gly831Glu)
c.2357G>A (p.Gly786Glu)
n.2653G>A
2g.71564101G>CCA347211294DYSFc.2399G>C (p.Gly800Ala)
c.2453G>C (p.Gly818Ala)
c.2402G>C (p.Gly801Ala)
c.2450G>C (p.Gly817Ala)
c.2495G>C (p.Gly832Ala)
c.2360G>C (p.Gly787Ala)
c.2492G>C (p.Gly831Ala)
c.2357G>C (p.Gly786Ala)
n.2653G>C
2g.71564101G=CA1260100667DYSFc.2399G= (p.Gly800=)
c.2453G= (p.Gly818=)
c.2402G= (p.Gly801=)
c.2450G= (p.Gly817=)
c.2495G= (p.Gly832=)
c.2360G= (p.Gly787=)
c.2492G= (p.Gly831=)
c.2357G= (p.Gly786=)
n.2653G=
2g.71564101G>TCA347211290DYSFc.2399G>T (p.Gly800Val)
c.2453G>T (p.Gly818Val)
c.2402G>T (p.Gly801Val)
c.2450G>T (p.Gly817Val)
c.2495G>T (p.Gly832Val)
c.2360G>T (p.Gly787Val)
c.2492G>T (p.Gly831Val)
c.2357G>T (p.Gly786Val)
n.2653G>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.71564102A>CCA426701676DYSFc.2400A>C (p.Gly800=)
c.2454A>C (p.Gly818=)
c.2403A>C (p.Gly801=)
c.2451A>C (p.Gly817=)
c.2496A>C (p.Gly832=)
c.2361A>C (p.Gly787=)
c.2493A>C (p.Gly831=)
c.2358A>C (p.Gly786=)
n.2654A>C
2g.71564102A>GCA426701677DYSFc.2400A>G (p.Gly800=)
c.2454A>G (p.Gly818=)
c.2403A>G (p.Gly801=)
c.2451A>G (p.Gly817=)
c.2496A>G (p.Gly832=)
c.2361A>G (p.Gly787=)
c.2493A>G (p.Gly831=)
c.2358A>G (p.Gly786=)
n.2654A>G
2g.71564102A>TCA426701678DYSFc.2400A>T (p.Gly800=)
c.2454A>T (p.Gly818=)
c.2403A>T (p.Gly801=)
c.2451A>T (p.Gly817=)
c.2496A>T (p.Gly832=)
c.2361A>T (p.Gly787=)
c.2493A>T (p.Gly831=)
c.2358A>T (p.Gly786=)
n.2654A>T
 ClinVar
2g.71564103G>ACA347211297DYSFc.2401G>A (p.Asp801Asn)
c.2455G>A (p.Asp819Asn)
c.2404G>A (p.Asp802Asn)
c.2452G>A (p.Asp818Asn)
c.2497G>A (p.Asp833Asn)
c.2362G>A (p.Asp788Asn)
c.2494G>A (p.Asp832Asn)
c.2359G>A (p.Asp787Asn)
n.2655G>A
2g.71564103G>CCA347211299DYSFc.2401G>C (p.Asp801His)
c.2455G>C (p.Asp819His)
c.2404G>C (p.Asp802His)
c.2452G>C (p.Asp818His)
c.2497G>C (p.Asp833His)
c.2362G>C (p.Asp788His)
c.2494G>C (p.Asp832His)
c.2359G>C (p.Asp787His)
n.2655G>C
 gnomAD v4
2g.71564103G>TCA347211301DYSFc.2401G>T (p.Asp801Tyr)
c.2455G>T (p.Asp819Tyr)
c.2404G>T (p.Asp802Tyr)
c.2452G>T (p.Asp818Tyr)
c.2497G>T (p.Asp833Tyr)
c.2362G>T (p.Asp788Tyr)
c.2494G>T (p.Asp832Tyr)
c.2359G>T (p.Asp787Tyr)
n.2655G>T
2g.71564104A=CA1260100671DYSFc.2402A= (p.Asp801=)
c.2456A= (p.Asp819=)
c.2405A= (p.Asp802=)
c.2453A= (p.Asp818=)
c.2498A= (p.Asp833=)
c.2363A= (p.Asp788=)
c.2495A= (p.Asp832=)
c.2360A= (p.Asp787=)
n.2656A=
2g.71564104A>CCA347211304DYSFc.2402A>C (p.Asp801Ala)
c.2456A>C (p.Asp819Ala)
c.2405A>C (p.Asp802Ala)
c.2453A>C (p.Asp818Ala)
c.2498A>C (p.Asp833Ala)
c.2363A>C (p.Asp788Ala)
c.2495A>C (p.Asp832Ala)
c.2360A>C (p.Asp787Ala)
n.2656A>C
2g.71564104A>GCA347211306DYSFc.2402A>G (p.Asp801Gly)
c.2456A>G (p.Asp819Gly)
c.2405A>G (p.Asp802Gly)
c.2453A>G (p.Asp818Gly)
c.2498A>G (p.Asp833Gly)
c.2363A>G (p.Asp788Gly)
c.2495A>G (p.Asp832Gly)
c.2360A>G (p.Asp787Gly)
n.2656A>G
 dbSNP COSMIC COSMIC
2g.71564104A>TCA347211308DYSFc.2402A>T (p.Asp801Val)
c.2456A>T (p.Asp819Val)
c.2405A>T (p.Asp802Val)
c.2453A>T (p.Asp818Val)
c.2498A>T (p.Asp833Val)
c.2363A>T (p.Asp788Val)
c.2495A>T (p.Asp832Val)
c.2360A>T (p.Asp787Val)
n.2656A>T
2g.71564105C>ACA347211312DYSFc.2403C>A (p.Asp801Glu)
c.2457C>A (p.Asp819Glu)
c.2406C>A (p.Asp802Glu)
c.2454C>A (p.Asp818Glu)
c.2499C>A (p.Asp833Glu)
c.2364C>A (p.Asp788Glu)
c.2496C>A (p.Asp832Glu)
c.2361C>A (p.Asp787Glu)
n.2657C>A
2g.71564105C>GCA347211310DYSFc.2403C>G (p.Asp801Glu)
c.2457C>G (p.Asp819Glu)
c.2406C>G (p.Asp802Glu)
c.2454C>G (p.Asp818Glu)
c.2499C>G (p.Asp833Glu)
c.2364C>G (p.Asp788Glu)
c.2496C>G (p.Asp832Glu)
c.2361C>G (p.Asp787Glu)
n.2657C>G
2g.71564105C>TCA426701679DYSFc.2403C>T (p.Asp801=)
c.2457C>T (p.Asp819=)
c.2406C>T (p.Asp802=)
c.2454C>T (p.Asp818=)
c.2499C>T (p.Asp833=)
c.2364C>T (p.Asp788=)
c.2496C>T (p.Asp832=)
c.2361C>T (p.Asp787=)
n.2657C>T
2g.71564106A=CA1260100675DYSFc.2404A= (p.Lys802=)
c.2458A= (p.Lys820=)
c.2407A= (p.Lys803=)
c.2455A= (p.Lys819=)
c.2500A= (p.Lys834=)
c.2365A= (p.Lys789=)
c.2497A= (p.Lys833=)
c.2362A= (p.Lys788=)
n.2658A=
2g.71564106A>CCA347211315DYSFc.2404A>C (p.Lys802Gln)
c.2458A>C (p.Lys820Gln)
c.2407A>C (p.Lys803Gln)
c.2455A>C (p.Lys819Gln)
c.2500A>C (p.Lys834Gln)
c.2365A>C (p.Lys789Gln)
c.2497A>C (p.Lys833Gln)
c.2362A>C (p.Lys788Gln)
n.2658A>C
2g.71564106A>GCA347211317DYSFc.2404A>G (p.Lys802Glu)
c.2458A>G (p.Lys820Glu)
c.2407A>G (p.Lys803Glu)
c.2455A>G (p.Lys819Glu)
c.2500A>G (p.Lys834Glu)
c.2365A>G (p.Lys789Glu)
c.2497A>G (p.Lys833Glu)
c.2362A>G (p.Lys788Glu)
n.2658A>G
2g.71564106A>TCA347211319DYSFc.2404A>T (p.Lys802Ter)
c.2458A>T (p.Lys820Ter)
c.2407A>T (p.Lys803Ter)
c.2455A>T (p.Lys819Ter)
c.2500A>T (p.Lys834Ter)
c.2365A>T (p.Lys789Ter)
c.2497A>T (p.Lys833Ter)
c.2362A>T (p.Lys788Ter)
n.2658A>T
2g.71564107dupCA913090743DYSFc.2405dup (p.Arg803AlafsTer?)
c.2459dup (p.Arg821AlafsTer?)
c.2408dup (p.Arg804AlafsTer?)
c.2456dup (p.Arg820AlafsTer?)
c.2501dup (p.Arg835AlafsTer?)
c.2366dup (p.Arg790AlafsTer?)
c.2498dup (p.Arg834AlafsTer?)
c.2363dup (p.Arg789AlafsTer?)
n.2659dup
2g.71564107A>CCA347211320DYSFc.2405A>C (p.Lys802Thr)
c.2459A>C (p.Lys820Thr)
c.2408A>C (p.Lys803Thr)
c.2456A>C (p.Lys819Thr)
c.2501A>C (p.Lys834Thr)
c.2366A>C (p.Lys789Thr)
c.2498A>C (p.Lys833Thr)
c.2363A>C (p.Lys788Thr)
n.2659A>C
2g.71564107A>GCA347211321DYSFc.2405A>G (p.Lys802Arg)
c.2459A>G (p.Lys820Arg)
c.2408A>G (p.Lys803Arg)
c.2456A>G (p.Lys819Arg)
c.2501A>G (p.Lys834Arg)
c.2366A>G (p.Lys789Arg)
c.2498A>G (p.Lys833Arg)
c.2363A>G (p.Lys788Arg)
n.2659A>G
2g.71564107A>TCA347211322DYSFc.2405A>T (p.Lys802Met)
c.2459A>T (p.Lys820Met)
c.2408A>T (p.Lys803Met)
c.2456A>T (p.Lys819Met)
c.2501A>T (p.Lys834Met)
c.2366A>T (p.Lys789Met)
c.2498A>T (p.Lys833Met)
c.2363A>T (p.Lys788Met)
n.2659A>T
2g.71564111_71564125dupCA533258110DYSFc.2409_2423dup (p.Arg808_Val809insValAlaTyrGlnArg)
c.2463_2477dup (p.Arg826_Val827insValAlaTyrGlnArg)
c.2412_2426dup (p.Arg809_Val810insValAlaTyrGlnArg)
c.2460_2474dup (p.Arg825_Val826insValAlaTyrGlnArg)
c.2505_2519dup (p.Arg840_Val841insValAlaTyrGlnArg)
c.2370_2384dup (p.Arg795_Val796insValAlaTyrGlnArg)
c.2502_2516dup (p.Arg839_Val840insValAlaTyrGlnArg)
c.2367_2381dup (p.Arg794_Val795insValAlaTyrGlnArg)
n.2663_2677dup
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.71564108G>ACA1706179DYSFc.2406G>A (p.Lys802=)
c.2460G>A (p.Lys820=)
c.2409G>A (p.Lys803=)
c.2457G>A (p.Lys819=)
c.2502G>A (p.Lys834=)
c.2367G>A (p.Lys789=)
c.2499G>A (p.Lys833=)
c.2364G>A (p.Lys788=)
n.2660G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71564108G>CCA347211324DYSFc.2406G>C (p.Lys802Asn)
c.2460G>C (p.Lys820Asn)
c.2409G>C (p.Lys803Asn)
c.2457G>C (p.Lys819Asn)
c.2502G>C (p.Lys834Asn)
c.2367G>C (p.Lys789Asn)
c.2499G>C (p.Lys833Asn)
c.2364G>C (p.Lys788Asn)
n.2660G>C
2g.71564108G=CA1260100685DYSFc.2406G= (p.Lys802=)
c.2460G= (p.Lys820=)
c.2409G= (p.Lys803=)
c.2457G= (p.Lys819=)
c.2502G= (p.Lys834=)
c.2367G= (p.Lys789=)
c.2499G= (p.Lys833=)
c.2364G= (p.Lys788=)
n.2660G=
2g.71564108G>TCA347211323DYSFc.2406G>T (p.Lys802Asn)
c.2460G>T (p.Lys820Asn)
c.2409G>T (p.Lys803Asn)
c.2457G>T (p.Lys819Asn)
c.2502G>T (p.Lys834Asn)
c.2367G>T (p.Lys789Asn)
c.2499G>T (p.Lys833Asn)
c.2364G>T (p.Lys788Asn)
n.2660G>T
 dbSNP
2g.71564109C>ACA347211325DYSFc.2407C>A (p.Arg803Ser)
c.2461C>A (p.Arg821Ser)
c.2410C>A (p.Arg804Ser)
c.2458C>A (p.Arg820Ser)
c.2503C>A (p.Arg835Ser)
c.2368C>A (p.Arg790Ser)
c.2500C>A (p.Arg834Ser)
c.2365C>A (p.Arg789Ser)
n.2661C>A
 gnomAD v4
2g.71564109C=CA1260100691DYSFc.2407C= (p.Arg803=)
c.2461C= (p.Arg821=)
c.2410C= (p.Arg804=)
c.2458C= (p.Arg820=)
c.2503C= (p.Arg835=)
c.2368C= (p.Arg790=)
c.2500C= (p.Arg834=)
c.2365C= (p.Arg789=)
n.2661C=
2g.71564109C>GCA347211326DYSFc.2407C>G (p.Arg803Gly)
c.2461C>G (p.Arg821Gly)
c.2410C>G (p.Arg804Gly)
c.2458C>G (p.Arg820Gly)
c.2503C>G (p.Arg835Gly)
c.2368C>G (p.Arg790Gly)
c.2500C>G (p.Arg834Gly)
c.2365C>G (p.Arg789Gly)
n.2661C>G
2g.71564109C>TCA1706180DYSFc.2407C>T (p.Arg803Cys)
c.2461C>T (p.Arg821Cys)
c.2410C>T (p.Arg804Cys)
c.2458C>T (p.Arg820Cys)
c.2503C>T (p.Arg835Cys)
c.2368C>T (p.Arg790Cys)
c.2500C>T (p.Arg834Cys)
c.2365C>T (p.Arg789Cys)
n.2661C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71564110G>ACA1706181DYSFc.2408G>A (p.Arg803His)
c.2462G>A (p.Arg821His)
c.2411G>A (p.Arg804His)
c.2459G>A (p.Arg820His)
c.2504G>A (p.Arg835His)
c.2369G>A (p.Arg790His)
c.2501G>A (p.Arg834His)
c.2366G>A (p.Arg789His)
n.2662G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71564110G>CCA347211327DYSFc.2408G>C (p.Arg803Pro)
c.2462G>C (p.Arg821Pro)
c.2411G>C (p.Arg804Pro)
c.2459G>C (p.Arg820Pro)
c.2504G>C (p.Arg835Pro)
c.2369G>C (p.Arg790Pro)
c.2501G>C (p.Arg834Pro)
c.2366G>C (p.Arg789Pro)
n.2662G>C
 COSMIC COSMIC
2g.71564110G=CA1260100698DYSFc.2408G= (p.Arg803=)
c.2462G= (p.Arg821=)
c.2411G= (p.Arg804=)
c.2459G= (p.Arg820=)
c.2504G= (p.Arg835=)
c.2369G= (p.Arg790=)
c.2501G= (p.Arg834=)
c.2366G= (p.Arg789=)
n.2662G=
2g.71564110G>TCA347211328DYSFc.2408G>T (p.Arg803Leu)
c.2462G>T (p.Arg821Leu)
c.2411G>T (p.Arg804Leu)
c.2459G>T (p.Arg820Leu)
c.2504G>T (p.Arg835Leu)
c.2369G>T (p.Arg790Leu)
c.2501G>T (p.Arg834Leu)
c.2366G>T (p.Arg789Leu)
n.2662G>T
2g.71564111T>ACA426701680DYSFc.2409T>A (p.Arg803=)
c.2463T>A (p.Arg821=)
c.2412T>A (p.Arg804=)
c.2460T>A (p.Arg820=)
c.2505T>A (p.Arg835=)
c.2370T>A (p.Arg790=)
c.2502T>A (p.Arg834=)
c.2367T>A (p.Arg789=)
n.2663T>A
2g.71564111T>CCA426701681DYSFc.2409T>C (p.Arg803=)
c.2463T>C (p.Arg821=)
c.2412T>C (p.Arg804=)
c.2460T>C (p.Arg820=)
c.2505T>C (p.Arg835=)
c.2370T>C (p.Arg790=)
c.2502T>C (p.Arg834=)
c.2367T>C (p.Arg789=)
n.2663T>C
2g.71564111T>GCA426701682DYSFc.2409T>G (p.Arg803=)
c.2463T>G (p.Arg821=)
c.2412T>G (p.Arg804=)
c.2460T>G (p.Arg820=)
c.2505T>G (p.Arg835=)
c.2370T>G (p.Arg790=)
c.2502T>G (p.Arg834=)
c.2367T>G (p.Arg789=)
n.2663T>G
2g.71564112G>ACA347211329DYSFc.2410G>A (p.Val804Met)
c.2464G>A (p.Val822Met)
c.2413G>A (p.Val805Met)
c.2461G>A (p.Val821Met)
c.2506G>A (p.Val836Met)
c.2371G>A (p.Val791Met)
c.2503G>A (p.Val835Met)
c.2368G>A (p.Val790Met)
n.2664G>A
2g.71564112G>CCA347211330DYSFc.2410G>C (p.Val804Leu)
c.2464G>C (p.Val822Leu)
c.2413G>C (p.Val805Leu)
c.2461G>C (p.Val821Leu)
c.2506G>C (p.Val836Leu)
c.2371G>C (p.Val791Leu)
c.2503G>C (p.Val835Leu)
c.2368G>C (p.Val790Leu)
n.2664G>C
2g.71564112G>TCA347211331DYSFc.2410G>T (p.Val804Leu)
c.2464G>T (p.Val822Leu)
c.2413G>T (p.Val805Leu)
c.2461G>T (p.Val821Leu)
c.2506G>T (p.Val836Leu)
c.2371G>T (p.Val791Leu)
c.2503G>T (p.Val835Leu)
c.2368G>T (p.Val790Leu)
n.2664G>T
2g.71564113T>ACA347211332DYSFc.2411T>A (p.Val804Glu)
c.2465T>A (p.Val822Glu)
c.2414T>A (p.Val805Glu)
c.2462T>A (p.Val821Glu)
c.2507T>A (p.Val836Glu)
c.2372T>A (p.Val791Glu)
c.2504T>A (p.Val835Glu)
c.2369T>A (p.Val790Glu)
n.2665T>A
2g.71564113T>CCA347211333DYSFc.2411T>C (p.Val804Ala)
c.2465T>C (p.Val822Ala)
c.2414T>C (p.Val805Ala)
c.2462T>C (p.Val821Ala)
c.2507T>C (p.Val836Ala)
c.2372T>C (p.Val791Ala)
c.2504T>C (p.Val835Ala)
c.2369T>C (p.Val790Ala)
n.2665T>C
2g.71564113T>GCA347211334DYSFc.2411T>G (p.Val804Gly)
c.2465T>G (p.Val822Gly)
c.2414T>G (p.Val805Gly)
c.2462T>G (p.Val821Gly)
c.2507T>G (p.Val836Gly)
c.2372T>G (p.Val791Gly)
c.2504T>G (p.Val835Gly)
c.2369T>G (p.Val790Gly)
n.2665T>G
2g.71564114G>ACA426701685DYSFc.2412G>A (p.Val804=)
c.2466G>A (p.Val822=)
c.2415G>A (p.Val805=)
c.2463G>A (p.Val821=)
c.2508G>A (p.Val836=)
c.2373G>A (p.Val791=)
c.2505G>A (p.Val835=)
c.2370G>A (p.Val790=)
n.2666G>A
2g.71564114G>CCA426701684DYSFc.2412G>C (p.Val804=)
c.2466G>C (p.Val822=)
c.2415G>C (p.Val805=)
c.2463G>C (p.Val821=)
c.2508G>C (p.Val836=)
c.2373G>C (p.Val791=)
c.2505G>C (p.Val835=)
c.2370G>C (p.Val790=)
n.2666G>C
2g.71564114G>TCA426701683DYSFc.2412G>T (p.Val804=)
c.2466G>T (p.Val822=)
c.2415G>T (p.Val805=)
c.2463G>T (p.Val821=)
c.2508G>T (p.Val836=)
c.2373G>T (p.Val791=)
c.2505G>T (p.Val835=)
c.2370G>T (p.Val790=)
n.2666G>T
2g.71564115G>ACA347211336DYSFc.2413G>A (p.Ala805Thr)
c.2467G>A (p.Ala823Thr)
c.2416G>A (p.Ala806Thr)
c.2464G>A (p.Ala822Thr)
c.2509G>A (p.Ala837Thr)
c.2374G>A (p.Ala792Thr)
c.2506G>A (p.Ala836Thr)
c.2371G>A (p.Ala791Thr)
n.2667G>A
2g.71564115G>CCA347211337DYSFc.2413G>C (p.Ala805Pro)
c.2467G>C (p.Ala823Pro)
c.2416G>C (p.Ala806Pro)
c.2464G>C (p.Ala822Pro)
c.2509G>C (p.Ala837Pro)
c.2374G>C (p.Ala792Pro)
c.2506G>C (p.Ala836Pro)
c.2371G>C (p.Ala791Pro)
n.2667G>C
2g.71564115G>TCA347211335DYSFc.2413G>T (p.Ala805Ser)
c.2467G>T (p.Ala823Ser)
c.2416G>T (p.Ala806Ser)
c.2464G>T (p.Ala822Ser)
c.2509G>T (p.Ala837Ser)
c.2374G>T (p.Ala792Ser)
c.2506G>T (p.Ala836Ser)
c.2371G>T (p.Ala791Ser)
n.2667G>T
2g.71564116C>ACA347211338DYSFc.2414C>A (p.Ala805Glu)
c.2468C>A (p.Ala823Glu)
c.2417C>A (p.Ala806Glu)
c.2465C>A (p.Ala822Glu)
c.2510C>A (p.Ala837Glu)
c.2375C>A (p.Ala792Glu)
c.2507C>A (p.Ala836Glu)
c.2372C>A (p.Ala791Glu)
n.2668C>A
 gnomAD v4
2g.71564116C>GCA347211340DYSFc.2414C>G (p.Ala805Gly)
c.2468C>G (p.Ala823Gly)
c.2417C>G (p.Ala806Gly)
c.2465C>G (p.Ala822Gly)
c.2510C>G (p.Ala837Gly)
c.2375C>G (p.Ala792Gly)
c.2507C>G (p.Ala836Gly)
c.2372C>G (p.Ala791Gly)
n.2668C>G
2g.71564116C>TCA347211339DYSFc.2414C>T (p.Ala805Val)
c.2468C>T (p.Ala823Val)
c.2417C>T (p.Ala806Val)
c.2465C>T (p.Ala822Val)
c.2510C>T (p.Ala837Val)
c.2375C>T (p.Ala792Val)
c.2507C>T (p.Ala836Val)
c.2372C>T (p.Ala791Val)
n.2668C>T
2g.71564117A>CCA426701686DYSFc.2415A>C (p.Ala805=)
c.2469A>C (p.Ala823=)
c.2418A>C (p.Ala806=)
c.2466A>C (p.Ala822=)
c.2511A>C (p.Ala837=)
c.2376A>C (p.Ala792=)
c.2508A>C (p.Ala836=)
c.2373A>C (p.Ala791=)
n.2669A>C
2g.71564117A>GCA426701687DYSFc.2415A>G (p.Ala805=)
c.2469A>G (p.Ala823=)
c.2418A>G (p.Ala806=)
c.2466A>G (p.Ala822=)
c.2511A>G (p.Ala837=)
c.2376A>G (p.Ala792=)
c.2508A>G (p.Ala836=)
c.2373A>G (p.Ala791=)
n.2669A>G
2g.71564117A>TCA426701688DYSFc.2415A>T (p.Ala805=)
c.2469A>T (p.Ala823=)
c.2418A>T (p.Ala806=)
c.2466A>T (p.Ala822=)
c.2511A>T (p.Ala837=)
c.2376A>T (p.Ala792=)
c.2508A>T (p.Ala836=)
c.2373A>T (p.Ala791=)
n.2669A>T
2g.71564118T>ACA347211341DYSFc.2416T>A (p.Tyr806Asn)
c.2470T>A (p.Tyr824Asn)
c.2419T>A (p.Tyr807Asn)
c.2467T>A (p.Tyr823Asn)
c.2512T>A (p.Tyr838Asn)
c.2377T>A (p.Tyr793Asn)
c.2509T>A (p.Tyr837Asn)
c.2374T>A (p.Tyr792Asn)
n.2670T>A
2g.71564118T>CCA347211343DYSFc.2416T>C (p.Tyr806His)
c.2470T>C (p.Tyr824His)
c.2419T>C (p.Tyr807His)
c.2467T>C (p.Tyr823His)
c.2512T>C (p.Tyr838His)
c.2377T>C (p.Tyr793His)
c.2509T>C (p.Tyr837His)
c.2374T>C (p.Tyr792His)
n.2670T>C
 gnomAD v4
2g.71564118T>GCA347211342DYSFc.2416T>G (p.Tyr806Asp)
c.2470T>G (p.Tyr824Asp)
c.2419T>G (p.Tyr807Asp)
c.2467T>G (p.Tyr823Asp)
c.2512T>G (p.Tyr838Asp)
c.2377T>G (p.Tyr793Asp)
c.2509T>G (p.Tyr837Asp)
c.2374T>G (p.Tyr792Asp)
n.2670T>G
2g.71564119A=CA1260100704DYSFc.2417A= (p.Tyr806=)
c.2471A= (p.Tyr824=)
c.2420A= (p.Tyr807=)
c.2468A= (p.Tyr823=)
c.2513A= (p.Tyr838=)
c.2378A= (p.Tyr793=)
c.2510A= (p.Tyr837=)
c.2375A= (p.Tyr792=)
n.2671A=
2g.71564119A>CCA347211344DYSFc.2417A>C (p.Tyr806Ser)
c.2471A>C (p.Tyr824Ser)
c.2420A>C (p.Tyr807Ser)
c.2468A>C (p.Tyr823Ser)
c.2513A>C (p.Tyr838Ser)
c.2378A>C (p.Tyr793Ser)
c.2510A>C (p.Tyr837Ser)
c.2375A>C (p.Tyr792Ser)
n.2671A>C
 dbSNP
2g.71564119A>GCA347211346DYSFc.2417A>G (p.Tyr806Cys)
c.2471A>G (p.Tyr824Cys)
c.2420A>G (p.Tyr807Cys)
c.2468A>G (p.Tyr823Cys)
c.2513A>G (p.Tyr838Cys)
c.2378A>G (p.Tyr793Cys)
c.2510A>G (p.Tyr837Cys)
c.2375A>G (p.Tyr792Cys)
n.2671A>G
 gnomAD v4
2g.71564119A>TCA347211345DYSFc.2417A>T (p.Tyr806Phe)
c.2471A>T (p.Tyr824Phe)
c.2420A>T (p.Tyr807Phe)
c.2468A>T (p.Tyr823Phe)
c.2513A>T (p.Tyr838Phe)
c.2378A>T (p.Tyr793Phe)
c.2510A>T (p.Tyr837Phe)
c.2375A>T (p.Tyr792Phe)
n.2671A>T
2g.71564120C>ACA347211347DYSFc.2418C>A (p.Tyr806Ter)
c.2472C>A (p.Tyr824Ter)
c.2421C>A (p.Tyr807Ter)
c.2469C>A (p.Tyr823Ter)
c.2514C>A (p.Tyr838Ter)
c.2379C>A (p.Tyr793Ter)
c.2511C>A (p.Tyr837Ter)
c.2376C>A (p.Tyr792Ter)
n.2672C>A
 ClinVar
2g.71564120C=CA1260100705DYSFc.2418C= (p.Tyr806=)
c.2472C= (p.Tyr824=)
c.2421C= (p.Tyr807=)
c.2469C= (p.Tyr823=)
c.2514C= (p.Tyr838=)
c.2379C= (p.Tyr793=)
c.2511C= (p.Tyr837=)
c.2376C= (p.Tyr792=)
n.2672C=
2g.71564120C>GCA347211348DYSFc.2418C>G (p.Tyr806Ter)
c.2472C>G (p.Tyr824Ter)
c.2421C>G (p.Tyr807Ter)
c.2469C>G (p.Tyr823Ter)
c.2514C>G (p.Tyr838Ter)
c.2379C>G (p.Tyr793Ter)
c.2511C>G (p.Tyr837Ter)
c.2376C>G (p.Tyr792Ter)
n.2672C>G
2g.71564120C>TCA1706182DYSFc.2418C>T (p.Tyr806=)
c.2472C>T (p.Tyr824=)
c.2421C>T (p.Tyr807=)
c.2469C>T (p.Tyr823=)
c.2514C>T (p.Tyr838=)
c.2379C>T (p.Tyr793=)
c.2511C>T (p.Tyr837=)
c.2376C>T (p.Tyr792=)
n.2672C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71564121C>ACA347211349DYSFc.2419C>A (p.Gln807Lys)
c.2473C>A (p.Gln825Lys)
c.2422C>A (p.Gln808Lys)
c.2470C>A (p.Gln824Lys)
c.2515C>A (p.Gln839Lys)
c.2380C>A (p.Gln794Lys)
c.2512C>A (p.Gln838Lys)
c.2377C>A (p.Gln793Lys)
n.2673C>A
2g.71564121C=CA1260100708DYSFc.2419C= (p.Gln807=)
c.2473C= (p.Gln825=)
c.2422C= (p.Gln808=)
c.2470C= (p.Gln824=)
c.2515C= (p.Gln839=)
c.2380C= (p.Gln794=)
c.2512C= (p.Gln838=)
c.2377C= (p.Gln793=)
n.2673C=
2g.71564121C>GCA347211351DYSFc.2419C>G (p.Gln807Glu)
c.2473C>G (p.Gln825Glu)
c.2422C>G (p.Gln808Glu)
c.2470C>G (p.Gln824Glu)
c.2515C>G (p.Gln839Glu)
c.2380C>G (p.Gln794Glu)
c.2512C>G (p.Gln838Glu)
c.2377C>G (p.Gln793Glu)
n.2673C>G
2g.71564121C>TCA347211350DYSFc.2419C>T (p.Gln807Ter)
c.2473C>T (p.Gln825Ter)
c.2422C>T (p.Gln808Ter)
c.2470C>T (p.Gln824Ter)
c.2515C>T (p.Gln839Ter)
c.2380C>T (p.Gln794Ter)
c.2512C>T (p.Gln838Ter)
c.2377C>T (p.Gln793Ter)
n.2673C>T
 ClinVar dbSNP
2g.71564122A>CCA347211352DYSFc.2420A>C (p.Gln807Pro)
c.2474A>C (p.Gln825Pro)
c.2423A>C (p.Gln808Pro)
c.2471A>C (p.Gln824Pro)
c.2516A>C (p.Gln839Pro)
c.2381A>C (p.Gln794Pro)
c.2513A>C (p.Gln838Pro)
c.2378A>C (p.Gln793Pro)
n.2674A>C
2g.71564122A>GCA347211353DYSFc.2420A>G (p.Gln807Arg)
c.2474A>G (p.Gln825Arg)
c.2423A>G (p.Gln808Arg)
c.2471A>G (p.Gln824Arg)
c.2516A>G (p.Gln839Arg)
c.2381A>G (p.Gln794Arg)
c.2513A>G (p.Gln838Arg)
c.2378A>G (p.Gln793Arg)
n.2674A>G
2g.71564122A>TCA347211354DYSFc.2420A>T (p.Gln807Leu)
c.2474A>T (p.Gln825Leu)
c.2423A>T (p.Gln808Leu)
c.2471A>T (p.Gln824Leu)
c.2516A>T (p.Gln839Leu)
c.2381A>T (p.Gln794Leu)
c.2513A>T (p.Gln838Leu)
c.2378A>T (p.Gln793Leu)
n.2674A>T
2g.71564123G>ACA426701689DYSFc.2421G>A (p.Gln807=)
c.2475G>A (p.Gln825=)
c.2424G>A (p.Gln808=)
c.2472G>A (p.Gln824=)
c.2517G>A (p.Gln839=)
c.2382G>A (p.Gln794=)
c.2514G>A (p.Gln838=)
c.2379G>A (p.Gln793=)
n.2675G>A
2g.71564123G>CCA347211355DYSFc.2421G>C (p.Gln807His)
c.2475G>C (p.Gln825His)
c.2424G>C (p.Gln808His)
c.2472G>C (p.Gln824His)
c.2517G>C (p.Gln839His)
c.2382G>C (p.Gln794His)
c.2514G>C (p.Gln838His)
c.2379G>C (p.Gln793His)
n.2675G>C
2g.71564123G=CA1260100712DYSFc.2421G= (p.Gln807=)
c.2475G= (p.Gln825=)
c.2424G= (p.Gln808=)
c.2472G= (p.Gln824=)
c.2517G= (p.Gln839=)
c.2382G= (p.Gln794=)
c.2514G= (p.Gln838=)
c.2379G= (p.Gln793=)
n.2675G=
2g.71564123G>TCA347211356DYSFc.2421G>T (p.Gln807His)
c.2475G>T (p.Gln825His)
c.2424G>T (p.Gln808His)
c.2472G>T (p.Gln824His)
c.2517G>T (p.Gln839His)
c.2382G>T (p.Gln794His)
c.2514G>T (p.Gln838His)
c.2379G>T (p.Gln793His)
n.2675G>T
2g.71564124C>ACA426701690DYSFc.2422C>A (p.Arg808=)
c.2476C>A (p.Arg826=)
c.2425C>A (p.Arg809=)
c.2473C>A (p.Arg825=)
c.2518C>A (p.Arg840=)
c.2383C>A (p.Arg795=)
c.2515C>A (p.Arg839=)
c.2380C>A (p.Arg794=)
n.2676C>A
2g.71564124C=CA1260100716DYSFc.2422C= (p.Arg808=)
c.2476C= (p.Arg826=)
c.2425C= (p.Arg809=)
c.2473C= (p.Arg825=)
c.2518C= (p.Arg840=)
c.2383C= (p.Arg795=)
c.2515C= (p.Arg839=)
c.2380C= (p.Arg794=)
n.2676C=
2g.71564124C>GCA347211357DYSFc.2422C>G (p.Arg808Gly)
c.2476C>G (p.Arg826Gly)
c.2425C>G (p.Arg809Gly)
c.2473C>G (p.Arg825Gly)
c.2518C>G (p.Arg840Gly)
c.2383C>G (p.Arg795Gly)
c.2515C>G (p.Arg839Gly)
c.2380C>G (p.Arg794Gly)
n.2676C>G
2g.71564124C>TCA347211358DYSFc.2422C>T (p.Arg808Trp)
c.2476C>T (p.Arg826Trp)
c.2425C>T (p.Arg809Trp)
c.2473C>T (p.Arg825Trp)
c.2518C>T (p.Arg840Trp)
c.2383C>T (p.Arg795Trp)
c.2515C>T (p.Arg839Trp)
c.2380C>T (p.Arg794Trp)
n.2676C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.71564124dupCA533258111DYSFc.2422dup (p.Arg808ProfsTer?)
c.2476dup (p.Arg826ProfsTer?)
c.2425dup (p.Arg809ProfsTer?)
c.2473dup (p.Arg825ProfsTer?)
c.2518dup (p.Arg840ProfsTer?)
c.2383dup (p.Arg795ProfsTer?)
c.2515dup (p.Arg839ProfsTer?)
c.2380dup (p.Arg794ProfsTer?)
n.2676dup
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.71564125G>ACA1706183DYSFc.2423G>A (p.Arg808Gln)
c.2477G>A (p.Arg826Gln)
c.2426G>A (p.Arg809Gln)
c.2474G>A (p.Arg825Gln)
c.2519G>A (p.Arg840Gln)
c.2384G>A (p.Arg795Gln)
c.2516G>A (p.Arg839Gln)
c.2381G>A (p.Arg794Gln)
n.2677G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71564125G>CCA347211359DYSFc.2423G>C (p.Arg808Pro)
c.2477G>C (p.Arg826Pro)
c.2426G>C (p.Arg809Pro)
c.2474G>C (p.Arg825Pro)
c.2519G>C (p.Arg840Pro)
c.2384G>C (p.Arg795Pro)
c.2516G>C (p.Arg839Pro)
c.2381G>C (p.Arg794Pro)
n.2677G>C
2g.71564125G=CA1260100718DYSFc.2423G= (p.Arg808=)
c.2477G= (p.Arg826=)
c.2426G= (p.Arg809=)
c.2474G= (p.Arg825=)
c.2519G= (p.Arg840=)
c.2384G= (p.Arg795=)
c.2516G= (p.Arg839=)
c.2381G= (p.Arg794=)
n.2677G=
2g.71564125G>TCA347211360DYSFc.2423G>T (p.Arg808Leu)
c.2477G>T (p.Arg826Leu)
c.2426G>T (p.Arg809Leu)
c.2474G>T (p.Arg825Leu)
c.2519G>T (p.Arg840Leu)
c.2384G>T (p.Arg795Leu)
c.2516G>T (p.Arg839Leu)
c.2381G>T (p.Arg794Leu)
n.2677G>T

Number of alleles fetched