OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.32411705A>G | CA2579579625 | DMD | c.4233+47T>C (n.4233+47T>C) c.201+47T>C (n.201+47T>C) c.4221+47T>C (n.4221+47T>C) c.94-46506T>C (n.94-46506T>C) c.94-46995T>C (n.94-46995T>C) n.336-194642T>C c.4209+47T>C (n.4209+47T>C) c.3864+47T>C (n.3864+47T>C) c.210+47T>C (n.210+47T>C) c.4104+47T>C (n.4104+47T>C) | |
| X | g.32411705A>T | CA2579579624 | DMD | c.4233+47T>A (n.4233+47T>A) c.201+47T>A (n.201+47T>A) c.4221+47T>A (n.4221+47T>A) c.94-46506T>A (n.94-46506T>A) c.94-46995T>A (n.94-46995T>A) n.336-194642T>A c.4209+47T>A (n.4209+47T>A) c.3864+47T>A (n.3864+47T>A) c.210+47T>A (n.210+47T>A) c.4104+47T>A (n.4104+47T>A) | |
| X | g.32411706A>C | CA2579579626 | DMD | c.4233+46T>G (n.4233+46T>G) c.201+46T>G (n.201+46T>G) c.4221+46T>G (n.4221+46T>G) c.94-46507T>G (n.94-46507T>G) c.94-46996T>G (n.94-46996T>G) n.336-194643T>G c.4209+46T>G (n.4209+46T>G) c.3864+46T>G (n.3864+46T>G) c.210+46T>G (n.210+46T>G) c.4104+46T>G (n.4104+46T>G) | |
| X | g.32411706A>G | CA2693395295 | DMD | c.4233+46T>C (n.4233+46T>C) c.201+46T>C (n.201+46T>C) c.4221+46T>C (n.4221+46T>C) c.94-46507T>C (n.94-46507T>C) c.94-46996T>C (n.94-46996T>C) n.336-194643T>C c.4209+46T>C (n.4209+46T>C) c.3864+46T>C (n.3864+46T>C) c.210+46T>C (n.210+46T>C) c.4104+46T>C (n.4104+46T>C) | gnomAD v4 |
| X | g.32411707G>A | CA2579579628 | DMD | c.4233+45C>T (n.4233+45C>T) c.201+45C>T (n.201+45C>T) c.4221+45C>T (n.4221+45C>T) c.94-46508C>T (n.94-46508C>T) c.94-46997C>T (n.94-46997C>T) n.336-194644C>T c.4209+45C>T (n.4209+45C>T) c.3864+45C>T (n.3864+45C>T) c.210+45C>T (n.210+45C>T) c.4104+45C>T (n.4104+45C>T) | gnomAD v4 |
| X | g.32411707G>C | CA2693395296 | DMD | c.4233+45C>G (n.4233+45C>G) c.201+45C>G (n.201+45C>G) c.4221+45C>G (n.4221+45C>G) c.94-46508C>G (n.94-46508C>G) c.94-46997C>G (n.94-46997C>G) n.336-194644C>G c.4209+45C>G (n.4209+45C>G) c.3864+45C>G (n.3864+45C>G) c.210+45C>G (n.210+45C>G) c.4104+45C>G (n.4104+45C>G) | gnomAD v4 |
| X | g.32411707G>T | CA2693395297 | DMD | c.4233+45C>A (n.4233+45C>A) c.201+45C>A (n.201+45C>A) c.4221+45C>A (n.4221+45C>A) c.94-46508C>A (n.94-46508C>A) c.94-46997C>A (n.94-46997C>A) n.336-194644C>A c.4209+45C>A (n.4209+45C>A) c.3864+45C>A (n.3864+45C>A) c.210+45C>A (n.210+45C>A) c.4104+45C>A (n.4104+45C>A) | gnomAD v4 |
| X | g.32411708T>C | CA641364214 | DMD | c.4233+44A>G (n.4233+44A>G) c.201+44A>G (n.201+44A>G) c.4221+44A>G (n.4221+44A>G) c.94-46509A>G (n.94-46509A>G) c.94-46998A>G (n.94-46998A>G) n.336-194645A>G c.4209+44A>G (n.4209+44A>G) c.3864+44A>G (n.3864+44A>G) c.210+44A>G (n.210+44A>G) c.4104+44A>G (n.4104+44A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.32411708T>G | CA641364215 | DMD | c.4233+44A>C (n.4233+44A>C) c.201+44A>C (n.201+44A>C) c.4221+44A>C (n.4221+44A>C) c.94-46509A>C (n.94-46509A>C) c.94-46998A>C (n.94-46998A>C) n.336-194645A>C c.4209+44A>C (n.4209+44A>C) c.3864+44A>C (n.3864+44A>C) c.210+44A>C (n.210+44A>C) c.4104+44A>C (n.4104+44A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.32411708T= | CA2422791645 | DMD | c.4233+44A= (n.4233+44A=) c.201+44A= (n.201+44A=) c.4221+44A= (n.4221+44A=) c.94-46509A= (n.94-46509A=) c.94-46998A= (n.94-46998A=) n.336-194645A= c.4209+44A= (n.4209+44A=) c.3864+44A= (n.3864+44A=) c.210+44A= (n.210+44A=) c.4104+44A= (n.4104+44A=) | |
| X | g.32411709A>T | CA2693395298 | DMD | c.4233+43T>A (n.4233+43T>A) c.201+43T>A (n.201+43T>A) c.4221+43T>A (n.4221+43T>A) c.94-46510T>A (n.94-46510T>A) c.94-46999T>A (n.94-46999T>A) n.336-194646T>A c.4209+43T>A (n.4209+43T>A) c.3864+43T>A (n.3864+43T>A) c.210+43T>A (n.210+43T>A) c.4104+43T>A (n.4104+43T>A) | gnomAD v4 |
| X | g.32411711T>C | CA10379013 | DMD | c.4233+41A>G (n.4233+41A>G) c.201+41A>G (n.201+41A>G) c.4221+41A>G (n.4221+41A>G) c.94-46512A>G (n.94-46512A>G) c.94-47001A>G (n.94-47001A>G) n.336-194648A>G c.4209+41A>G (n.4209+41A>G) c.3864+41A>G (n.3864+41A>G) c.210+41A>G (n.210+41A>G) c.4104+41A>G (n.4104+41A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.32411711T>G | CA2693395299 | DMD | c.4233+41A>C (n.4233+41A>C) c.201+41A>C (n.201+41A>C) c.4221+41A>C (n.4221+41A>C) c.94-46512A>C (n.94-46512A>C) c.94-47001A>C (n.94-47001A>C) n.336-194648A>C c.4209+41A>C (n.4209+41A>C) c.3864+41A>C (n.3864+41A>C) c.210+41A>C (n.210+41A>C) c.4104+41A>C (n.4104+41A>C) | gnomAD v4 |
| X | g.32411711T= | CA2422791646 | DMD | c.4233+41A= (n.4233+41A=) c.201+41A= (n.201+41A=) c.4221+41A= (n.4221+41A=) c.94-46512A= (n.94-46512A=) c.94-47001A= (n.94-47001A=) n.336-194648A= c.4209+41A= (n.4209+41A=) c.3864+41A= (n.3864+41A=) c.210+41A= (n.210+41A=) c.4104+41A= (n.4104+41A=) | |
| X | g.32411716del | CA2579579631 | DMD | c.4233+40del (n.4233+40del) c.201+40del (n.201+40del) c.4221+40del (n.4221+40del) c.94-46513del (n.94-46513del) c.94-47002del (n.94-47002del) n.336-194649del c.4209+40del (n.4209+40del) c.3864+40del (n.3864+40del) c.210+40del (n.210+40del) c.4104+40del (n.4104+40del) | |
| X | g.32411713A= | CA2422791647 | DMD | c.4233+39T= (n.4233+39T=) c.201+39T= (n.201+39T=) c.4221+39T= (n.4221+39T=) c.94-46514T= (n.94-46514T=) c.94-47003T= (n.94-47003T=) n.336-194650T= c.4209+39T= (n.4209+39T=) c.3864+39T= (n.3864+39T=) c.210+39T= (n.210+39T=) c.4104+39T= (n.4104+39T=) | |
| X | g.32411713A>C | CA641364216 | DMD | c.4233+39T>G (n.4233+39T>G) c.201+39T>G (n.201+39T>G) c.4221+39T>G (n.4221+39T>G) c.94-46514T>G (n.94-46514T>G) c.94-47003T>G (n.94-47003T>G) n.336-194650T>G c.4209+39T>G (n.4209+39T>G) c.3864+39T>G (n.3864+39T>G) c.210+39T>G (n.210+39T>G) c.4104+39T>G (n.4104+39T>G) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.32411713A>G | CA328007399 | DMD | c.4233+39T>C (n.4233+39T>C) c.201+39T>C (n.201+39T>C) c.4221+39T>C (n.4221+39T>C) c.94-46514T>C (n.94-46514T>C) c.94-47003T>C (n.94-47003T>C) n.336-194650T>C c.4209+39T>C (n.4209+39T>C) c.3864+39T>C (n.3864+39T>C) c.210+39T>C (n.210+39T>C) c.4104+39T>C (n.4104+39T>C) | dbSNP gnomAD v2 |
| X | g.32411713A>T | CA2693395300 | DMD | c.4233+39T>A (n.4233+39T>A) c.201+39T>A (n.201+39T>A) c.4221+39T>A (n.4221+39T>A) c.94-46514T>A (n.94-46514T>A) c.94-47003T>A (n.94-47003T>A) n.336-194650T>A c.4209+39T>A (n.4209+39T>A) c.3864+39T>A (n.3864+39T>A) c.210+39T>A (n.210+39T>A) c.4104+39T>A (n.4104+39T>A) | gnomAD v4 |
| X | g.32411715A>G | CA2693395301 | DMD | c.4233+37T>C (n.4233+37T>C) c.201+37T>C (n.201+37T>C) c.4221+37T>C (n.4221+37T>C) c.94-46516T>C (n.94-46516T>C) c.94-47005T>C (n.94-47005T>C) n.336-194652T>C c.4209+37T>C (n.4209+37T>C) c.3864+37T>C (n.3864+37T>C) c.210+37T>C (n.210+37T>C) c.4104+37T>C (n.4104+37T>C) | dbSNP gnomAD v4 |
| X | g.32411716A>G | CA2693395302 | DMD | c.4233+36T>C (n.4233+36T>C) c.201+36T>C (n.201+36T>C) c.4221+36T>C (n.4221+36T>C) c.94-46517T>C (n.94-46517T>C) c.94-47006T>C (n.94-47006T>C) n.336-194653T>C c.4209+36T>C (n.4209+36T>C) c.3864+36T>C (n.3864+36T>C) c.210+36T>C (n.210+36T>C) c.4104+36T>C (n.4104+36T>C) | gnomAD v4 |
| X | g.32411717C>A | CA2693395303 | DMD | c.4233+35G>T (n.4233+35G>T) c.201+35G>T (n.201+35G>T) c.4221+35G>T (n.4221+35G>T) c.94-46518G>T (n.94-46518G>T) c.94-47007G>T (n.94-47007G>T) n.336-194654G>T c.4209+35G>T (n.4209+35G>T) c.3864+35G>T (n.3864+35G>T) c.210+35G>T (n.210+35G>T) c.4104+35G>T (n.4104+35G>T) | gnomAD v4 |
| X | g.32411718A>G | CA657813562 | DMD | c.4233+34T>C (n.4233+34T>C) c.201+34T>C (n.201+34T>C) c.4221+34T>C (n.4221+34T>C) c.94-46519T>C (n.94-46519T>C) c.94-47008T>C (n.94-47008T>C) n.336-194655T>C c.4209+34T>C (n.4209+34T>C) c.3864+34T>C (n.3864+34T>C) c.210+34T>C (n.210+34T>C) c.4104+34T>C (n.4104+34T>C) | gnomAD v4 COSMIC |
| X | g.32411721A= | CA2422791648 | DMD | c.4233+31T= (n.4233+31T=) c.201+31T= (n.201+31T=) c.4221+31T= (n.4221+31T=) c.94-46522T= (n.94-46522T=) c.94-47011T= (n.94-47011T=) n.336-194658T= c.4209+31T= (n.4209+31T=) c.3864+31T= (n.3864+31T=) c.210+31T= (n.210+31T=) c.4104+31T= (n.4104+31T=) | |
| X | g.32411721A>G | CA641364217 | DMD | c.4233+31T>C (n.4233+31T>C) c.201+31T>C (n.201+31T>C) c.4221+31T>C (n.4221+31T>C) c.94-46522T>C (n.94-46522T>C) c.94-47011T>C (n.94-47011T>C) n.336-194658T>C c.4209+31T>C (n.4209+31T>C) c.3864+31T>C (n.3864+31T>C) c.210+31T>C (n.210+31T>C) c.4104+31T>C (n.4104+31T>C) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.32411722del | CA2693395304 | DMD | c.4233+30del (n.4233+30del) c.201+30del (n.201+30del) c.4221+30del (n.4221+30del) c.94-46523del (n.94-46523del) c.94-47012del (n.94-47012del) n.336-194659del c.4209+30del (n.4209+30del) c.3864+30del (n.3864+30del) c.210+30del (n.210+30del) c.4104+30del (n.4104+30del) | gnomAD v4 |
| X | g.32411722G>A | CA2422791650 | DMD | c.4233+30C>T (n.4233+30C>T) c.201+30C>T (n.201+30C>T) c.4221+30C>T (n.4221+30C>T) c.94-46523C>T (n.94-46523C>T) c.94-47012C>T (n.94-47012C>T) n.336-194659C>T c.4209+30C>T (n.4209+30C>T) c.3864+30C>T (n.3864+30C>T) c.210+30C>T (n.210+30C>T) c.4104+30C>T (n.4104+30C>T) | dbSNP gnomAD v4 |
| X | g.32411722G= | CA2422791649 | DMD | c.4233+30C= (n.4233+30C=) c.201+30C= (n.201+30C=) c.4221+30C= (n.4221+30C=) c.94-46523C= (n.94-46523C=) c.94-47012C= (n.94-47012C=) n.336-194659C= c.4209+30C= (n.4209+30C=) c.3864+30C= (n.3864+30C=) c.210+30C= (n.210+30C=) c.4104+30C= (n.4104+30C=) | |
| X | g.32411722G>T | CA2693395305 | DMD | c.4233+30C>A (n.4233+30C>A) c.201+30C>A (n.201+30C>A) c.4221+30C>A (n.4221+30C>A) c.94-46523C>A (n.94-46523C>A) c.94-47012C>A (n.94-47012C>A) n.336-194659C>A c.4209+30C>A (n.4209+30C>A) c.3864+30C>A (n.3864+30C>A) c.210+30C>A (n.210+30C>A) c.4104+30C>A (n.4104+30C>A) | gnomAD v4 |
| X | g.32411725T>A | CA10379014 | DMD | c.4233+27A>T (n.4233+27A>T) c.201+27A>T (n.201+27A>T) c.4221+27A>T (n.4221+27A>T) c.94-46526A>T (n.94-46526A>T) c.94-47015A>T (n.94-47015A>T) n.336-194662A>T c.4209+27A>T (n.4209+27A>T) c.3864+27A>T (n.3864+27A>T) c.210+27A>T (n.210+27A>T) c.4104+27A>T (n.4104+27A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.32411725T= | CA2422791651 | DMD | c.4233+27A= (n.4233+27A=) c.201+27A= (n.201+27A=) c.4221+27A= (n.4221+27A=) c.94-46526A= (n.94-46526A=) c.94-47015A= (n.94-47015A=) n.336-194662A= c.4209+27A= (n.4209+27A=) c.3864+27A= (n.3864+27A=) c.210+27A= (n.210+27A=) c.4104+27A= (n.4104+27A=) | |
| X | g.32411726G>A | CA2579579632 | DMD | c.4233+26C>T (n.4233+26C>T) c.201+26C>T (n.201+26C>T) c.4221+26C>T (n.4221+26C>T) c.94-46527C>T (n.94-46527C>T) c.94-47016C>T (n.94-47016C>T) n.336-194663C>T c.4209+26C>T (n.4209+26C>T) c.3864+26C>T (n.3864+26C>T) c.210+26C>T (n.210+26C>T) c.4104+26C>T (n.4104+26C>T) | |
| X | g.32411728A= | CA2422791652 | DMD | c.4233+24T= (n.4233+24T=) c.201+24T= (n.201+24T=) c.4221+24T= (n.4221+24T=) c.94-46529T= (n.94-46529T=) c.94-47018T= (n.94-47018T=) n.336-194665T= c.4209+24T= (n.4209+24T=) c.3864+24T= (n.3864+24T=) c.210+24T= (n.210+24T=) c.4104+24T= (n.4104+24T=) | |
| X | g.32411728A>T | CA2422791653 | DMD | c.4233+24T>A (n.4233+24T>A) c.201+24T>A (n.201+24T>A) c.4221+24T>A (n.4221+24T>A) c.94-46529T>A (n.94-46529T>A) c.94-47018T>A (n.94-47018T>A) n.336-194665T>A c.4209+24T>A (n.4209+24T>A) c.3864+24T>A (n.3864+24T>A) c.210+24T>A (n.210+24T>A) c.4104+24T>A (n.4104+24T>A) | dbSNP |
| X | g.32411731C>A | CA10379015 | DMD | c.4233+21G>T (n.4233+21G>T) c.201+21G>T (n.201+21G>T) c.4221+21G>T (n.4221+21G>T) c.94-46532G>T (n.94-46532G>T) c.94-47021G>T (n.94-47021G>T) n.336-194668G>T c.4209+21G>T (n.4209+21G>T) c.3864+21G>T (n.3864+21G>T) c.210+21G>T (n.210+21G>T) c.4104+21G>T (n.4104+21G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.32411731C= | CA2422791654 | DMD | c.4233+21G= (n.4233+21G=) c.201+21G= (n.201+21G=) c.4221+21G= (n.4221+21G=) c.94-46532G= (n.94-46532G=) c.94-47021G= (n.94-47021G=) n.336-194668G= c.4209+21G= (n.4209+21G=) c.3864+21G= (n.3864+21G=) c.210+21G= (n.210+21G=) c.4104+21G= (n.4104+21G=) | |
| X | g.32411731C>T | CA2579579633 | DMD | c.4233+21G>A (n.4233+21G>A) c.201+21G>A (n.201+21G>A) c.4221+21G>A (n.4221+21G>A) c.94-46532G>A (n.94-46532G>A) c.94-47021G>A (n.94-47021G>A) n.336-194668G>A c.4209+21G>A (n.4209+21G>A) c.3864+21G>A (n.3864+21G>A) c.210+21G>A (n.210+21G>A) c.4104+21G>A (n.4104+21G>A) | gnomAD v4 |
| X | g.32411732T>A | CA2739273362 | DMD | c.4233+20A>T (n.4233+20A>T) c.201+20A>T (n.201+20A>T) c.4221+20A>T (n.4221+20A>T) c.94-46533A>T (n.94-46533A>T) c.94-47022A>T (n.94-47022A>T) n.336-194669A>T c.4209+20A>T (n.4209+20A>T) c.3864+20A>T (n.3864+20A>T) c.210+20A>T (n.210+20A>T) c.4104+20A>T (n.4104+20A>T) | ClinVar |
| X | g.32411733G>C | CA2580100651 | DMD | c.4233+19C>G (n.4233+19C>G) c.201+19C>G (n.201+19C>G) c.4221+19C>G (n.4221+19C>G) c.94-46534C>G (n.94-46534C>G) c.94-47023C>G (n.94-47023C>G) n.336-194670C>G c.4209+19C>G (n.4209+19C>G) c.3864+19C>G (n.3864+19C>G) c.210+19C>G (n.210+19C>G) c.4104+19C>G (n.4104+19C>G) | ClinVar |
| X | g.32411733G>T | CA2579579635 | DMD | c.4233+19C>A (n.4233+19C>A) c.201+19C>A (n.201+19C>A) c.4221+19C>A (n.4221+19C>A) c.94-46534C>A (n.94-46534C>A) c.94-47023C>A (n.94-47023C>A) n.336-194670C>A c.4209+19C>A (n.4209+19C>A) c.3864+19C>A (n.3864+19C>A) c.210+19C>A (n.210+19C>A) c.4104+19C>A (n.4104+19C>A) | |
| X | g.32411735T>C | CA2422791656 | DMD | c.4233+17A>G (n.4233+17A>G) c.201+17A>G (n.201+17A>G) c.4221+17A>G (n.4221+17A>G) c.94-46536A>G (n.94-46536A>G) c.94-47025A>G (n.94-47025A>G) n.336-194672A>G c.4209+17A>G (n.4209+17A>G) c.3864+17A>G (n.3864+17A>G) c.210+17A>G (n.210+17A>G) c.4104+17A>G (n.4104+17A>G) | dbSNP |
| X | g.32411735T>G | CA2422791657 | DMD | c.4233+17A>C (n.4233+17A>C) c.201+17A>C (n.201+17A>C) c.4221+17A>C (n.4221+17A>C) c.94-46536A>C (n.94-46536A>C) c.94-47025A>C (n.94-47025A>C) n.336-194672A>C c.4209+17A>C (n.4209+17A>C) c.3864+17A>C (n.3864+17A>C) c.210+17A>C (n.210+17A>C) c.4104+17A>C (n.4104+17A>C) | dbSNP gnomAD v4 |
| X | g.32411735T= | CA2422791655 | DMD | c.4233+17A= (n.4233+17A=) c.201+17A= (n.201+17A=) c.4221+17A= (n.4221+17A=) c.94-46536A= (n.94-46536A=) c.94-47025A= (n.94-47025A=) n.336-194672A= c.4209+17A= (n.4209+17A=) c.3864+17A= (n.3864+17A=) c.210+17A= (n.210+17A=) c.4104+17A= (n.4104+17A=) | |
| X | g.32411737C>A | CA2531103868 | DMD | c.4233+15G>T (n.4233+15G>T) c.201+15G>T (n.201+15G>T) c.4221+15G>T (n.4221+15G>T) c.94-46538G>T (n.94-46538G>T) c.94-47027G>T (n.94-47027G>T) n.336-194674G>T c.4209+15G>T (n.4209+15G>T) c.3864+15G>T (n.3864+15G>T) c.210+15G>T (n.210+15G>T) c.4104+15G>T (n.4104+15G>T) | |
| X | g.32411739del | CA2579579638 | DMD | c.4233+15del (n.4233+15del) c.201+15del (n.201+15del) c.4221+15del (n.4221+15del) c.94-46538del (n.94-46538del) c.94-47027del (n.94-47027del) n.336-194674del c.4209+15del (n.4209+15del) c.3864+15del (n.3864+15del) c.210+15del (n.210+15del) c.4104+15del (n.4104+15del) | |
| X | g.32411738_32411739del | CA2579579637 | DMD | c.4233+14_4233+15del (n.4233+14_4233+15del) c.201+14_201+15del (n.201+14_201+15del) c.4221+14_4221+15del (n.4221+14_4221+15del) c.94-46539_94-46538del (n.94-46539_94-46538del) c.94-47028_94-47027del (n.94-47028_94-47027del) n.336-194675_336-194674del c.4209+14_4209+15del (n.4209+14_4209+15del) c.3864+14_3864+15del (n.3864+14_3864+15del) c.210+14_210+15del (n.210+14_210+15del) c.4104+14_4104+15del (n.4104+14_4104+15del) | |
| X | g.32411738C>A | CA328007414 | DMD | c.4233+14G>T (n.4233+14G>T) c.201+14G>T (n.201+14G>T) c.4221+14G>T (n.4221+14G>T) c.94-46539G>T (n.94-46539G>T) c.94-47028G>T (n.94-47028G>T) n.336-194675G>T c.4209+14G>T (n.4209+14G>T) c.3864+14G>T (n.3864+14G>T) c.210+14G>T (n.210+14G>T) c.4104+14G>T (n.4104+14G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.32411738C= | CA2422791658 | DMD | c.4233+14G= (n.4233+14G=) c.201+14G= (n.201+14G=) c.4221+14G= (n.4221+14G=) c.94-46539G= (n.94-46539G=) c.94-47028G= (n.94-47028G=) n.336-194675G= c.4209+14G= (n.4209+14G=) c.3864+14G= (n.3864+14G=) c.210+14G= (n.210+14G=) c.4104+14G= (n.4104+14G=) | |
| X | g.32411738C>T | CA10379016 | DMD | c.4233+14G>A (n.4233+14G>A) c.201+14G>A (n.201+14G>A) c.4221+14G>A (n.4221+14G>A) c.94-46539G>A (n.94-46539G>A) c.94-47028G>A (n.94-47028G>A) n.336-194675G>A c.4209+14G>A (n.4209+14G>A) c.3864+14G>A (n.3864+14G>A) c.210+14G>A (n.210+14G>A) c.4104+14G>A (n.4104+14G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.32411739C>T | CA2579579646 | DMD | c.4233+13G>A (n.4233+13G>A) c.201+13G>A (n.201+13G>A) c.4221+13G>A (n.4221+13G>A) c.94-46540G>A (n.94-46540G>A) c.94-47029G>A (n.94-47029G>A) n.336-194676G>A c.4209+13G>A (n.4209+13G>A) c.3864+13G>A (n.3864+13G>A) c.210+13G>A (n.210+13G>A) c.4104+13G>A (n.4104+13G>A) | |
| X | g.32411740A= | CA2422791659 | DMD | c.4233+12T= (n.4233+12T=) c.201+12T= (n.201+12T=) c.4221+12T= (n.4221+12T=) c.94-46541T= (n.94-46541T=) c.94-47030T= (n.94-47030T=) n.336-194677T= c.4209+12T= (n.4209+12T=) c.3864+12T= (n.3864+12T=) c.210+12T= (n.210+12T=) c.4104+12T= (n.4104+12T=) | |
| X | g.32411740A>G | CA2693395306 | DMD | c.4233+12T>C (n.4233+12T>C) c.201+12T>C (n.201+12T>C) c.4221+12T>C (n.4221+12T>C) c.94-46541T>C (n.94-46541T>C) c.94-47030T>C (n.94-47030T>C) n.336-194677T>C c.4209+12T>C (n.4209+12T>C) c.3864+12T>C (n.3864+12T>C) c.210+12T>C (n.210+12T>C) c.4104+12T>C (n.4104+12T>C) | gnomAD v4 |
| X | g.32411740A>T | CA10379017 | DMD | c.4233+12T>A (n.4233+12T>A) c.201+12T>A (n.201+12T>A) c.4221+12T>A (n.4221+12T>A) c.94-46541T>A (n.94-46541T>A) c.94-47030T>A (n.94-47030T>A) n.336-194677T>A c.4209+12T>A (n.4209+12T>A) c.3864+12T>A (n.3864+12T>A) c.210+12T>A (n.210+12T>A) c.4104+12T>A (n.4104+12T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.32411743T>G | CA2422791661 | DMD | c.4233+9A>C (n.4233+9A>C) c.201+9A>C (n.201+9A>C) c.4221+9A>C (n.4221+9A>C) c.94-46544A>C (n.94-46544A>C) c.94-47033A>C (n.94-47033A>C) n.336-194680A>C c.4209+9A>C (n.4209+9A>C) c.3864+9A>C (n.3864+9A>C) c.210+9A>C (n.210+9A>C) c.4104+9A>C (n.4104+9A>C) | ClinVar dbSNP gnomAD v4 |
| X | g.32411743T= | CA2422791660 | DMD | c.4233+9A= (n.4233+9A=) c.201+9A= (n.201+9A=) c.4221+9A= (n.4221+9A=) c.94-46544A= (n.94-46544A=) c.94-47033A= (n.94-47033A=) n.336-194680A= c.4209+9A= (n.4209+9A=) c.3864+9A= (n.3864+9A=) c.210+9A= (n.210+9A=) c.4104+9A= (n.4104+9A=) | |
| X | g.32411744G>A | CA645614463 | DMD | c.4233+8C>T (n.4233+8C>T) c.201+8C>T (n.201+8C>T) c.4221+8C>T (n.4221+8C>T) c.94-46545C>T (n.94-46545C>T) c.94-47034C>T (n.94-47034C>T) n.336-194681C>T c.4209+8C>T (n.4209+8C>T) c.3864+8C>T (n.3864+8C>T) c.210+8C>T (n.210+8C>T) c.4104+8C>T (n.4104+8C>T) | dbSNP COSMIC COSMIC COSMIC COSMIC |
| X | g.32411745T>C | CA658799661 | DMD | c.4233+7A>G (n.4233+7A>G) c.201+7A>G (n.201+7A>G) c.4221+7A>G (n.4221+7A>G) c.94-46546A>G (n.94-46546A>G) c.94-47035A>G (n.94-47035A>G) n.336-194682A>G c.4209+7A>G (n.4209+7A>G) c.3864+7A>G (n.3864+7A>G) c.210+7A>G (n.210+7A>G) c.4104+7A>G (n.4104+7A>G) | ClinVar dbSNP |
| X | g.32411745T= | CA2422791662 | DMD | c.4233+7A= (n.4233+7A=) c.201+7A= (n.201+7A=) c.4221+7A= (n.4221+7A=) c.94-46546A= (n.94-46546A=) c.94-47035A= (n.94-47035A=) n.336-194682A= c.4209+7A= (n.4209+7A=) c.3864+7A= (n.3864+7A=) c.210+7A= (n.210+7A=) c.4104+7A= (n.4104+7A=) | |
| X | g.32411746A= | CA2422791663 | DMD | c.4233+6T= (n.4233+6T=) c.201+6T= (n.201+6T=) c.4221+6T= (n.4221+6T=) c.94-46547T= (n.94-46547T=) c.94-47036T= (n.94-47036T=) n.336-194683T= c.4209+6T= (n.4209+6T=) c.3864+6T= (n.3864+6T=) c.210+6T= (n.210+6T=) c.4104+6T= (n.4104+6T=) | |
| X | g.32411746A>G | CA641364218 | DMD | c.4233+6T>C (n.4233+6T>C) c.201+6T>C (n.201+6T>C) c.4221+6T>C (n.4221+6T>C) c.94-46547T>C (n.94-46547T>C) c.94-47036T>C (n.94-47036T>C) n.336-194683T>C c.4209+6T>C (n.4209+6T>C) c.3864+6T>C (n.3864+6T>C) c.210+6T>C (n.210+6T>C) c.4104+6T>C (n.4104+6T>C) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.32411748T>C | CA2519250821 | DMD | c.4233+4A>G (n.4233+4A>G) c.201+4A>G (n.201+4A>G) c.4221+4A>G (n.4221+4A>G) c.94-46549A>G (n.94-46549A>G) c.94-47038A>G (n.94-47038A>G) n.336-194685A>G c.4209+4A>G (n.4209+4A>G) c.3864+4A>G (n.3864+4A>G) c.210+4A>G (n.210+4A>G) c.4104+4A>G (n.4104+4A>G) | |
| X | g.32411748T>G | CA16616675 | DMD | c.4233+4A>C (n.4233+4A>C) c.201+4A>C (n.201+4A>C) c.4221+4A>C (n.4221+4A>C) c.94-46549A>C (n.94-46549A>C) c.94-47038A>C (n.94-47038A>C) n.336-194685A>C c.4209+4A>C (n.4209+4A>C) c.3864+4A>C (n.3864+4A>C) c.210+4A>C (n.210+4A>C) c.4104+4A>C (n.4104+4A>C) | ClinVar dbSNP |
| X | g.32411748T= | CA2422791664 | DMD | c.4233+4A= (n.4233+4A=) c.201+4A= (n.201+4A=) c.4221+4A= (n.4221+4A=) c.94-46549A= (n.94-46549A=) c.94-47038A= (n.94-47038A=) n.336-194685A= c.4209+4A= (n.4209+4A=) c.3864+4A= (n.3864+4A=) c.210+4A= (n.210+4A=) c.4104+4A= (n.4104+4A=) | |
| X | g.32411750G>A | CA090924 | DMD | c.4233+2C>T (n.4233+2C>T) c.201+2C>T (n.201+2C>T) c.4221+2C>T (n.4221+2C>T) c.94-46551C>T (n.94-46551C>T) c.94-47040C>T (n.94-47040C>T) n.336-194687C>T c.4209+2C>T (n.4209+2C>T) c.3864+2C>T (n.3864+2C>T) c.210+2C>T (n.210+2C>T) c.4104+2C>T (n.4104+2C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.32411750G>C | CA412665917 | DMD | c.4233+2C>G (n.4233+2C>G) c.201+2C>G (n.201+2C>G) c.4221+2C>G (n.4221+2C>G) c.94-46551C>G (n.94-46551C>G) c.94-47040C>G (n.94-47040C>G) n.336-194687C>G c.4209+2C>G (n.4209+2C>G) c.3864+2C>G (n.3864+2C>G) c.210+2C>G (n.210+2C>G) c.4104+2C>G (n.4104+2C>G) | |
| X | g.32411750G= | CA2422791665 | DMD | c.4233+2C= (n.4233+2C=) c.201+2C= (n.201+2C=) c.4221+2C= (n.4221+2C=) c.94-46551C= (n.94-46551C=) c.94-47040C= (n.94-47040C=) n.336-194687C= c.4209+2C= (n.4209+2C=) c.3864+2C= (n.3864+2C=) c.210+2C= (n.210+2C=) c.4104+2C= (n.4104+2C=) | |
| X | g.32411750G>T | CA412665920 | DMD | c.4233+2C>A (n.4233+2C>A) c.201+2C>A (n.201+2C>A) c.4221+2C>A (n.4221+2C>A) c.94-46551C>A (n.94-46551C>A) c.94-47040C>A (n.94-47040C>A) n.336-194687C>A c.4209+2C>A (n.4209+2C>A) c.3864+2C>A (n.3864+2C>A) c.210+2C>A (n.210+2C>A) c.4104+2C>A (n.4104+2C>A) | |
| X | g.32411751C>A | CA412665925 | DMD | c.4233+1G>T (n.4233+1G>T) c.201+1G>T (n.201+1G>T) c.4221+1G>T (n.4221+1G>T) c.94-46552G>T (n.94-46552G>T) c.94-47041G>T (n.94-47041G>T) n.336-194688G>T c.4209+1G>T (n.4209+1G>T) c.3864+1G>T (n.3864+1G>T) c.210+1G>T (n.210+1G>T) c.4104+1G>T (n.4104+1G>T) | |
| X | g.32411751C>G | CA412665928 | DMD | c.4233+1G>C (n.4233+1G>C) c.201+1G>C (n.201+1G>C) c.4221+1G>C (n.4221+1G>C) c.94-46552G>C (n.94-46552G>C) c.94-47041G>C (n.94-47041G>C) n.336-194688G>C c.4209+1G>C (n.4209+1G>C) c.3864+1G>C (n.3864+1G>C) c.210+1G>C (n.210+1G>C) c.4104+1G>C (n.4104+1G>C) | |
| X | g.32411751C>T | CA412665927 | DMD | c.4233+1G>A (n.4233+1G>A) c.201+1G>A (n.201+1G>A) c.4221+1G>A (n.4221+1G>A) c.94-46552G>A (n.94-46552G>A) c.94-47041G>A (n.94-47041G>A) n.336-194688G>A c.4209+1G>A (n.4209+1G>A) c.3864+1G>A (n.3864+1G>A) c.210+1G>A (n.210+1G>A) c.4104+1G>A (n.4104+1G>A) | |
| X | g.32411752C>A | CA412665942 | DMD | c.4233G>T (p.Gln1411His) c.201G>T (p.Gln67His) c.4221G>T (p.Gln1407His) c.94-46553G>T (n.94-46553G>T) c.94-47042G>T (n.94-47042G>T) n.336-194689G>T c.4209G>T (p.Gln1403His) c.3864G>T (p.Gln1288His) c.210G>T (p.Gln70His) c.4104G>T (p.Gln1368His) | |
| X | g.32411752C>G | CA412665944 | DMD | c.4233G>C (p.Gln1411His) c.201G>C (p.Gln67His) c.4221G>C (p.Gln1407His) c.94-46553G>C (n.94-46553G>C) c.94-47042G>C (n.94-47042G>C) n.336-194689G>C c.4209G>C (p.Gln1403His) c.3864G>C (p.Gln1288His) c.210G>C (p.Gln70His) c.4104G>C (p.Gln1368His) | |
| X | g.32411752C>T | CA515717262 | DMD | c.4233G>A (p.Gln1411=) c.201G>A (p.Gln67=) c.4221G>A (p.Gln1407=) c.94-46553G>A (n.94-46553G>A) c.94-47042G>A (n.94-47042G>A) n.336-194689G>A c.4209G>A (p.Gln1403=) c.3864G>A (p.Gln1288=) c.210G>A (p.Gln70=) c.4104G>A (p.Gln1368=) | |
| X | g.32411753T>A | CA412665946 | DMD | c.4232A>T (p.Gln1411Leu) c.200A>T (p.Gln67Leu) c.4220A>T (p.Gln1407Leu) c.94-46554A>T (n.94-46554A>T) c.94-47043A>T (n.94-47043A>T) n.336-194690A>T c.4208A>T (p.Gln1403Leu) c.3863A>T (p.Gln1288Leu) c.209A>T (p.Gln70Leu) c.4103A>T (p.Gln1368Leu) | |
| X | g.32411753T>C | CA412665949 | DMD | c.4232A>G (p.Gln1411Arg) c.200A>G (p.Gln67Arg) c.4220A>G (p.Gln1407Arg) c.94-46554A>G (n.94-46554A>G) c.94-47043A>G (n.94-47043A>G) n.336-194690A>G c.4208A>G (p.Gln1403Arg) c.3863A>G (p.Gln1288Arg) c.209A>G (p.Gln70Arg) c.4103A>G (p.Gln1368Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| X | g.32411753T>G | CA412665953 | DMD | c.4232A>C (p.Gln1411Pro) c.200A>C (p.Gln67Pro) c.4220A>C (p.Gln1407Pro) c.94-46554A>C (n.94-46554A>C) c.94-47043A>C (n.94-47043A>C) n.336-194690A>C c.4208A>C (p.Gln1403Pro) c.3863A>C (p.Gln1288Pro) c.209A>C (p.Gln70Pro) c.4103A>C (p.Gln1368Pro) | |
| X | g.32411753T= | CA2422791666 | DMD | c.4232A= (p.Gln1411=) c.200A= (p.Gln67=) c.4220A= (p.Gln1407=) c.94-46554A= (n.94-46554A=) c.94-47043A= (n.94-47043A=) n.336-194690A= c.4208A= (p.Gln1403=) c.3863A= (p.Gln1288=) c.209A= (p.Gln70=) c.4103A= (p.Gln1368=) | |
| X | g.32411754G>A | CA412665956 | DMD | c.4231C>T (p.Gln1411Ter) c.199C>T (p.Gln67Ter) c.4219C>T (p.Gln1407Ter) c.94-46555C>T (n.94-46555C>T) c.94-47044C>T (n.94-47044C>T) n.336-194691C>T c.4207C>T (p.Gln1403Ter) c.3862C>T (p.Gln1288Ter) c.208C>T (p.Gln70Ter) c.4102C>T (p.Gln1368Ter) | ClinVar dbSNP |
| X | g.32411754G>C | CA412665959 | DMD | c.4231C>G (p.Gln1411Glu) c.199C>G (p.Gln67Glu) c.4219C>G (p.Gln1407Glu) c.94-46555C>G (n.94-46555C>G) c.94-47044C>G (n.94-47044C>G) n.336-194691C>G c.4207C>G (p.Gln1403Glu) c.3862C>G (p.Gln1288Glu) c.208C>G (p.Gln70Glu) c.4102C>G (p.Gln1368Glu) | |
| X | g.32411754G= | CA2422791667 | DMD | c.4231C= (p.Gln1411=) c.199C= (p.Gln67=) c.4219C= (p.Gln1407=) c.94-46555C= (n.94-46555C=) c.94-47044C= (n.94-47044C=) n.336-194691C= c.4207C= (p.Gln1403=) c.3862C= (p.Gln1288=) c.208C= (p.Gln70=) c.4102C= (p.Gln1368=) | |
| X | g.32411754G>T | CA328007454 | DMD | c.4231C>A (p.Gln1411Lys) c.199C>A (p.Gln67Lys) c.4219C>A (p.Gln1407Lys) c.94-46555C>A (n.94-46555C>A) c.94-47044C>A (n.94-47044C>A) n.336-194691C>A c.4207C>A (p.Gln1403Lys) c.3862C>A (p.Gln1288Lys) c.208C>A (p.Gln70Lys) c.4102C>A (p.Gln1368Lys) | dbSNP |
| X | g.32411756dup | CA2695232796 | DMD | c.4231dup (p.Gln1411ProfsTer6) c.199dup (p.Gln67ProfsTer6) c.4219dup (p.Gln1407ProfsTer6) c.94-46555dup (n.94-46555dup) c.94-47044dup (n.94-47044dup) n.336-194691dup c.4207dup (p.Gln1403ProfsTer6) c.3862dup (p.Gln1288ProfsTer6) c.208dup (p.Gln70ProfsTer6) c.4102dup (p.Gln1368ProfsTer6) | |
| X | g.32411755G>A | CA515717266 | DMD | c.4230C>T (p.Ala1410=) c.198C>T (p.Ala66=) c.4218C>T (p.Ala1406=) c.94-46556C>T (n.94-46556C>T) c.94-47045C>T (n.94-47045C>T) n.336-194692C>T c.4206C>T (p.Ala1402=) c.3861C>T (p.Ala1287=) c.207C>T (p.Ala69=) c.4101C>T (p.Ala1367=) | ClinVar dbSNP gnomAD v2 |
| X | g.32411755G>C | CA515717267 | DMD | c.4230C>G (p.Ala1410=) c.198C>G (p.Ala66=) c.4218C>G (p.Ala1406=) c.94-46556C>G (n.94-46556C>G) c.94-47045C>G (n.94-47045C>G) n.336-194692C>G c.4206C>G (p.Ala1402=) c.3861C>G (p.Ala1287=) c.207C>G (p.Ala69=) c.4101C>G (p.Ala1367=) | ClinVar dbSNP gnomAD v4 |
| X | g.32411755G= | CA2422791668 | DMD | c.4230C= (p.Ala1410=) c.198C= (p.Ala66=) c.4218C= (p.Ala1406=) c.94-46556C= (n.94-46556C=) c.94-47045C= (n.94-47045C=) n.336-194692C= c.4206C= (p.Ala1402=) c.3861C= (p.Ala1287=) c.207C= (p.Ala69=) c.4101C= (p.Ala1367=) | |
| X | g.32411755G>T | CA515717268 | DMD | c.4230C>A (p.Ala1410=) c.198C>A (p.Ala66=) c.4218C>A (p.Ala1406=) c.94-46556C>A (n.94-46556C>A) c.94-47045C>A (n.94-47045C>A) n.336-194692C>A c.4206C>A (p.Ala1402=) c.3861C>A (p.Ala1287=) c.207C>A (p.Ala69=) c.4101C>A (p.Ala1367=) | |
| X | g.32411756G>A | CA412665964 | DMD | c.4229C>T (p.Ala1410Val) c.197C>T (p.Ala66Val) c.4217C>T (p.Ala1406Val) c.94-46557C>T (n.94-46557C>T) c.94-47046C>T (n.94-47046C>T) n.336-194693C>T c.4205C>T (p.Ala1402Val) c.3860C>T (p.Ala1287Val) c.206C>T (p.Ala69Val) c.4100C>T (p.Ala1367Val) | gnomAD v4 |
| X | g.32411756G>C | CA412665965 | DMD | c.4229C>G (p.Ala1410Gly) c.197C>G (p.Ala66Gly) c.4217C>G (p.Ala1406Gly) c.94-46557C>G (n.94-46557C>G) c.94-47046C>G (n.94-47046C>G) n.336-194693C>G c.4205C>G (p.Ala1402Gly) c.3860C>G (p.Ala1287Gly) c.206C>G (p.Ala69Gly) c.4100C>G (p.Ala1367Gly) | |
| X | g.32411756G>T | CA412665967 | DMD | c.4229C>A (p.Ala1410Asp) c.197C>A (p.Ala66Asp) c.4217C>A (p.Ala1406Asp) c.94-46557C>A (n.94-46557C>A) c.94-47046C>A (n.94-47046C>A) n.336-194693C>A c.4205C>A (p.Ala1402Asp) c.3860C>A (p.Ala1287Asp) c.206C>A (p.Ala69Asp) c.4100C>A (p.Ala1367Asp) | |
| X | g.32411757C>A | CA412665971 | DMD | c.4228G>T (p.Ala1410Ser) c.196G>T (p.Ala66Ser) c.4216G>T (p.Ala1406Ser) c.94-46558G>T (n.94-46558G>T) c.94-47047G>T (n.94-47047G>T) n.336-194694G>T c.4204G>T (p.Ala1402Ser) c.3859G>T (p.Ala1287Ser) c.205G>T (p.Ala69Ser) c.4099G>T (p.Ala1367Ser) | |
| X | g.32411757C>G | CA412665974 | DMD | c.4228G>C (p.Ala1410Pro) c.196G>C (p.Ala66Pro) c.4216G>C (p.Ala1406Pro) c.94-46558G>C (n.94-46558G>C) c.94-47047G>C (n.94-47047G>C) n.336-194694G>C c.4204G>C (p.Ala1402Pro) c.3859G>C (p.Ala1287Pro) c.205G>C (p.Ala69Pro) c.4099G>C (p.Ala1367Pro) | |
| X | g.32411757C>T | CA412665969 | DMD | c.4228G>A (p.Ala1410Thr) c.196G>A (p.Ala66Thr) c.4216G>A (p.Ala1406Thr) c.94-46558G>A (n.94-46558G>A) c.94-47047G>A (n.94-47047G>A) n.336-194694G>A c.4204G>A (p.Ala1402Thr) c.3859G>A (p.Ala1287Thr) c.205G>A (p.Ala69Thr) c.4099G>A (p.Ala1367Thr) | |
| X | g.32411758T>A | CA412665977 | DMD | c.4227A>T (p.Glu1409Asp) c.195A>T (p.Glu65Asp) c.4215A>T (p.Glu1405Asp) c.94-46559A>T (n.94-46559A>T) c.94-47048A>T (n.94-47048A>T) n.336-194695A>T c.4203A>T (p.Glu1401Asp) c.3858A>T (p.Glu1286Asp) c.204A>T (p.Glu68Asp) c.4098A>T (p.Glu1366Asp) | ClinVar |
| X | g.32411758T>C | CA515717270 | DMD | c.4227A>G (p.Glu1409=) c.195A>G (p.Glu65=) c.4215A>G (p.Glu1405=) c.94-46559A>G (n.94-46559A>G) c.94-47048A>G (n.94-47048A>G) n.336-194695A>G c.4203A>G (p.Glu1401=) c.3858A>G (p.Glu1286=) c.204A>G (p.Glu68=) c.4098A>G (p.Glu1366=) | |
| X | g.32411758T>G | CA412665976 | DMD | c.4227A>C (p.Glu1409Asp) c.195A>C (p.Glu65Asp) c.4215A>C (p.Glu1405Asp) c.94-46559A>C (n.94-46559A>C) c.94-47048A>C (n.94-47048A>C) n.336-194695A>C c.4203A>C (p.Glu1401Asp) c.3858A>C (p.Glu1286Asp) c.204A>C (p.Glu68Asp) c.4098A>C (p.Glu1366Asp) | |
| X | g.32411759T>A | CA412665982 | DMD | c.4226A>T (p.Glu1409Val) c.194A>T (p.Glu65Val) c.4214A>T (p.Glu1405Val) c.94-46560A>T (n.94-46560A>T) c.94-47049A>T (n.94-47049A>T) n.336-194696A>T c.4202A>T (p.Glu1401Val) c.3857A>T (p.Glu1286Val) c.203A>T (p.Glu68Val) c.4097A>T (p.Glu1366Val) | gnomAD v4 |
| X | g.32411759T>C | CA412665985 | DMD | c.4226A>G (p.Glu1409Gly) c.194A>G (p.Glu65Gly) c.4214A>G (p.Glu1405Gly) c.94-46560A>G (n.94-46560A>G) c.94-47049A>G (n.94-47049A>G) n.336-194696A>G c.4202A>G (p.Glu1401Gly) c.3857A>G (p.Glu1286Gly) c.203A>G (p.Glu68Gly) c.4097A>G (p.Glu1366Gly) | |
| X | g.32411759T>G | CA412665989 | DMD | c.4226A>C (p.Glu1409Ala) c.194A>C (p.Glu65Ala) c.4214A>C (p.Glu1405Ala) c.94-46560A>C (n.94-46560A>C) c.94-47049A>C (n.94-47049A>C) n.336-194696A>C c.4202A>C (p.Glu1401Ala) c.3857A>C (p.Glu1286Ala) c.203A>C (p.Glu68Ala) c.4097A>C (p.Glu1366Ala) | |
| X | g.32411760C>A | CA412665990 | DMD | c.4225G>T (p.Glu1409Ter) c.193G>T (p.Glu65Ter) c.4213G>T (p.Glu1405Ter) c.94-46561G>T (n.94-46561G>T) c.94-47050G>T (n.94-47050G>T) n.336-194697G>T c.4201G>T (p.Glu1401Ter) c.3856G>T (p.Glu1286Ter) c.202G>T (p.Glu68Ter) c.4096G>T (p.Glu1366Ter) | |
| X | g.32411760C>G | CA412665991 | DMD | c.4225G>C (p.Glu1409Gln) c.193G>C (p.Glu65Gln) c.4213G>C (p.Glu1405Gln) c.94-46561G>C (n.94-46561G>C) c.94-47050G>C (n.94-47050G>C) n.336-194697G>C c.4201G>C (p.Glu1401Gln) c.3856G>C (p.Glu1286Gln) c.202G>C (p.Glu68Gln) c.4096G>C (p.Glu1366Gln) | |
| X | g.32411760C>T | CA412665993 | DMD | c.4225G>A (p.Glu1409Lys) c.193G>A (p.Glu65Lys) c.4213G>A (p.Glu1405Lys) c.94-46561G>A (n.94-46561G>A) c.94-47050G>A (n.94-47050G>A) n.336-194697G>A c.4201G>A (p.Glu1401Lys) c.3856G>A (p.Glu1286Lys) c.202G>A (p.Glu68Lys) c.4096G>A (p.Glu1366Lys) | |
| X | g.32411761C>A | CA412665996 | DMD | c.4224G>T (p.Gln1408His) c.192G>T (p.Gln64His) c.4212G>T (p.Gln1404His) c.94-46562G>T (n.94-46562G>T) c.94-47051G>T (n.94-47051G>T) n.336-194698G>T c.4200G>T (p.Gln1400His) c.3855G>T (p.Gln1285His) c.201G>T (p.Gln67His) c.4095G>T (p.Gln1365His) | |
| X | g.32411761C>G | CA412665999 | DMD | c.4224G>C (p.Gln1408His) c.192G>C (p.Gln64His) c.4212G>C (p.Gln1404His) c.94-46562G>C (n.94-46562G>C) c.94-47051G>C (n.94-47051G>C) n.336-194698G>C c.4200G>C (p.Gln1400His) c.3855G>C (p.Gln1285His) c.201G>C (p.Gln67His) c.4095G>C (p.Gln1365His) | |
| X | g.32411761C>T | CA515717273 | DMD | c.4224G>A (p.Gln1408=) c.192G>A (p.Gln64=) c.4212G>A (p.Gln1404=) c.94-46562G>A (n.94-46562G>A) c.94-47051G>A (n.94-47051G>A) n.336-194698G>A c.4200G>A (p.Gln1400=) c.3855G>A (p.Gln1285=) c.201G>A (p.Gln67=) c.4095G>A (p.Gln1365=) | |
| X | g.32411762T>A | CA412666001 | DMD | c.4223A>T (p.Gln1408Leu) c.191A>T (p.Gln64Leu) c.4211A>T (p.Gln1404Leu) c.94-46563A>T (n.94-46563A>T) c.94-47052A>T (n.94-47052A>T) n.336-194699A>T c.4199A>T (p.Gln1400Leu) c.3854A>T (p.Gln1285Leu) c.200A>T (p.Gln67Leu) c.4094A>T (p.Gln1365Leu) | |
| X | g.32411762T>C | CA412666009 | DMD | c.4223A>G (p.Gln1408Arg) c.191A>G (p.Gln64Arg) c.4211A>G (p.Gln1404Arg) c.94-46563A>G (n.94-46563A>G) c.94-47052A>G (n.94-47052A>G) n.336-194699A>G c.4199A>G (p.Gln1400Arg) c.3854A>G (p.Gln1285Arg) c.200A>G (p.Gln67Arg) c.4094A>G (p.Gln1365Arg) | ClinVar |
| X | g.32411762T>G | CA412666012 | DMD | c.4223A>C (p.Gln1408Pro) c.191A>C (p.Gln64Pro) c.4211A>C (p.Gln1404Pro) c.94-46563A>C (n.94-46563A>C) c.94-47052A>C (n.94-47052A>C) n.336-194699A>C c.4199A>C (p.Gln1400Pro) c.3854A>C (p.Gln1285Pro) c.200A>C (p.Gln67Pro) c.4094A>C (p.Gln1365Pro) | |
| X | g.32411763G>A | CA16609178 | DMD | c.4222C>T (p.Gln1408Ter) c.190C>T (p.Gln64Ter) c.4210C>T (p.Gln1404Ter) c.94-46564C>T (n.94-46564C>T) c.94-47053C>T (n.94-47053C>T) n.336-194700C>T c.4198C>T (p.Gln1400Ter) c.3853C>T (p.Gln1285Ter) c.199C>T (p.Gln67Ter) c.4093C>T (p.Gln1365Ter) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
| X | g.32411763G>C | CA412666016 | DMD | c.4222C>G (p.Gln1408Glu) c.190C>G (p.Gln64Glu) c.4210C>G (p.Gln1404Glu) c.94-46564C>G (n.94-46564C>G) c.94-47053C>G (n.94-47053C>G) n.336-194700C>G c.4198C>G (p.Gln1400Glu) c.3853C>G (p.Gln1285Glu) c.199C>G (p.Gln67Glu) c.4093C>G (p.Gln1365Glu) | |
| X | g.32411763G= | CA2422791669 | DMD | c.4222C= (p.Gln1408=) c.190C= (p.Gln64=) c.4210C= (p.Gln1404=) c.94-46564C= (n.94-46564C=) c.94-47053C= (n.94-47053C=) n.336-194700C= c.4198C= (p.Gln1400=) c.3853C= (p.Gln1285=) c.199C= (p.Gln67=) c.4093C= (p.Gln1365=) | |
| X | g.32411763G>T | CA412666018 | DMD | c.4222C>A (p.Gln1408Lys) c.190C>A (p.Gln64Lys) c.4210C>A (p.Gln1404Lys) c.94-46564C>A (n.94-46564C>A) c.94-47053C>A (n.94-47053C>A) n.336-194700C>A c.4198C>A (p.Gln1400Lys) c.3853C>A (p.Gln1285Lys) c.199C>A (p.Gln67Lys) c.4093C>A (p.Gln1365Lys) | |
| X | g.32411764A>C | CA515717277 | DMD | c.4221T>G (p.Pro1407=) c.189T>G (p.Pro63=) c.4209T>G (p.Pro1403=) c.94-46565T>G (n.94-46565T>G) c.94-47054T>G (n.94-47054T>G) n.336-194701T>G c.4197T>G (p.Pro1399=) c.3852T>G (p.Pro1284=) c.198T>G (p.Pro66=) c.4092T>G (p.Pro1364=) | |
| X | g.32411764A>G | CA515717278 | DMD | c.4221T>C (p.Pro1407=) c.189T>C (p.Pro63=) c.4209T>C (p.Pro1403=) c.94-46565T>C (n.94-46565T>C) c.94-47054T>C (n.94-47054T>C) n.336-194701T>C c.4197T>C (p.Pro1399=) c.3852T>C (p.Pro1284=) c.198T>C (p.Pro66=) c.4092T>C (p.Pro1364=) | ClinVar dbSNP |
| X | g.32411764A>T | CA515717279 | DMD | c.4221T>A (p.Pro1407=) c.189T>A (p.Pro63=) c.4209T>A (p.Pro1403=) c.94-46565T>A (n.94-46565T>A) c.94-47054T>A (n.94-47054T>A) n.336-194701T>A c.4197T>A (p.Pro1399=) c.3852T>A (p.Pro1284=) c.198T>A (p.Pro66=) c.4092T>A (p.Pro1364=) | ClinVar dbSNP |
| X | g.32411764_32411769delinsGGCTTCC | CA2695232797 | DMD | c.4216_4221delinsGGAAGCC (p.Met1406GlyfsTer11) c.184_189delinsGGAAGCC (p.Met62GlyfsTer11) c.4204_4209delinsGGAAGCC (p.Met1402GlyfsTer11) c.94-46570_94-46565delinsGGAAGCC (n.94-46570_94-46565delinsGGAAGCC) c.94-47059_94-47054delinsGGAAGCC (n.94-47059_94-47054delinsGGAAGCC) n.336-194706_336-194701delinsGGAAGCC c.4192_4197delinsGGAAGCC (p.Met1398GlyfsTer11) c.3847_3852delinsGGAAGCC (p.Met1283GlyfsTer11) c.193_198delinsGGAAGCC (p.Met65GlyfsTer11) c.4087_4092delinsGGAAGCC (p.Met1363GlyfsTer11) | |
| X | g.32411765G>A | CA10379018 | DMD | c.4220C>T (p.Pro1407Leu) c.188C>T (p.Pro63Leu) c.4208C>T (p.Pro1403Leu) c.94-46566C>T (n.94-46566C>T) c.94-47055C>T (n.94-47055C>T) n.336-194702C>T c.4196C>T (p.Pro1399Leu) c.3851C>T (p.Pro1284Leu) c.197C>T (p.Pro66Leu) c.4091C>T (p.Pro1364Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.32411765G>C | CA412666022 | DMD | c.4220C>G (p.Pro1407Arg) c.188C>G (p.Pro63Arg) c.4208C>G (p.Pro1403Arg) c.94-46566C>G (n.94-46566C>G) c.94-47055C>G (n.94-47055C>G) n.336-194702C>G c.4196C>G (p.Pro1399Arg) c.3851C>G (p.Pro1284Arg) c.197C>G (p.Pro66Arg) c.4091C>G (p.Pro1364Arg) | |
| X | g.32411765G= | CA2422791670 | DMD | c.4220C= (p.Pro1407=) c.188C= (p.Pro63=) c.4208C= (p.Pro1403=) c.94-46566C= (n.94-46566C=) c.94-47055C= (n.94-47055C=) n.336-194702C= c.4196C= (p.Pro1399=) c.3851C= (p.Pro1284=) c.197C= (p.Pro66=) c.4091C= (p.Pro1364=) | |
| X | g.32411765G>T | CA412666023 | DMD | c.4220C>A (p.Pro1407His) c.188C>A (p.Pro63His) c.4208C>A (p.Pro1403His) c.94-46566C>A (n.94-46566C>A) c.94-47055C>A (n.94-47055C>A) n.336-194702C>A c.4196C>A (p.Pro1399His) c.3851C>A (p.Pro1284His) c.197C>A (p.Pro66His) c.4091C>A (p.Pro1364His) | ClinVar dbSNP |
| X | g.32411766G>A | CA412666025 | DMD | c.4219C>T (p.Pro1407Ser) c.187C>T (p.Pro63Ser) c.4207C>T (p.Pro1403Ser) c.94-46567C>T (n.94-46567C>T) c.94-47056C>T (n.94-47056C>T) n.336-194703C>T c.4195C>T (p.Pro1399Ser) c.3850C>T (p.Pro1284Ser) c.196C>T (p.Pro66Ser) c.4090C>T (p.Pro1364Ser) | |
| X | g.32411766G>C | CA412666027 | DMD | c.4219C>G (p.Pro1407Ala) c.187C>G (p.Pro63Ala) c.4207C>G (p.Pro1403Ala) c.94-46567C>G (n.94-46567C>G) c.94-47056C>G (n.94-47056C>G) n.336-194703C>G c.4195C>G (p.Pro1399Ala) c.3850C>G (p.Pro1284Ala) c.196C>G (p.Pro66Ala) c.4090C>G (p.Pro1364Ala) | |
| X | g.32411766G>T | CA412666030 | DMD | c.4219C>A (p.Pro1407Thr) c.187C>A (p.Pro63Thr) c.4207C>A (p.Pro1403Thr) c.94-46567C>A (n.94-46567C>A) c.94-47056C>A (n.94-47056C>A) n.336-194703C>A c.4195C>A (p.Pro1399Thr) c.3850C>A (p.Pro1284Thr) c.196C>A (p.Pro66Thr) c.4090C>A (p.Pro1364Thr) | |
| X | g.32411767C>A | CA328007471 | DMD | c.4218G>T (p.Met1406Ile) c.186G>T (p.Met62Ile) c.4206G>T (p.Met1402Ile) c.94-46568G>T (n.94-46568G>T) c.94-47057G>T (n.94-47057G>T) n.336-194704G>T c.4194G>T (p.Met1398Ile) c.3849G>T (p.Met1283Ile) c.195G>T (p.Met65Ile) c.4089G>T (p.Met1363Ile) | dbSNP |
| X | g.32411767C= | CA2422791671 | DMD | c.4218G= (p.Met1406=) c.186G= (p.Met62=) c.4206G= (p.Met1402=) c.94-46568G= (n.94-46568G=) c.94-47057G= (n.94-47057G=) n.336-194704G= c.4194G= (p.Met1398=) c.3849G= (p.Met1283=) c.195G= (p.Met65=) c.4089G= (p.Met1363=) | |
| X | g.32411767C>G | CA412666033 | DMD | c.4218G>C (p.Met1406Ile) c.186G>C (p.Met62Ile) c.4206G>C (p.Met1402Ile) c.94-46568G>C (n.94-46568G>C) c.94-47057G>C (n.94-47057G>C) n.336-194704G>C c.4194G>C (p.Met1398Ile) c.3849G>C (p.Met1283Ile) c.195G>C (p.Met65Ile) c.4089G>C (p.Met1363Ile) | gnomAD v4 |
| X | g.32411767C>T | CA412666035 | DMD | c.4218G>A (p.Met1406Ile) c.186G>A (p.Met62Ile) c.4206G>A (p.Met1402Ile) c.94-46568G>A (n.94-46568G>A) c.94-47057G>A (n.94-47057G>A) n.336-194704G>A c.4194G>A (p.Met1398Ile) c.3849G>A (p.Met1283Ile) c.195G>A (p.Met65Ile) c.4089G>A (p.Met1363Ile) | |
| X | g.32411768A>C | CA412666037 | DMD | c.4217T>G (p.Met1406Arg) c.185T>G (p.Met62Arg) c.4205T>G (p.Met1402Arg) c.94-46569T>G (n.94-46569T>G) c.94-47058T>G (n.94-47058T>G) n.336-194705T>G c.4193T>G (p.Met1398Arg) c.3848T>G (p.Met1283Arg) c.194T>G (p.Met65Arg) c.4088T>G (p.Met1363Arg) | |
| X | g.32411768A>G | CA412666039 | DMD | c.4217T>C (p.Met1406Thr) c.185T>C (p.Met62Thr) c.4205T>C (p.Met1402Thr) c.94-46569T>C (n.94-46569T>C) c.94-47058T>C (n.94-47058T>C) n.336-194705T>C c.4193T>C (p.Met1398Thr) c.3848T>C (p.Met1283Thr) c.194T>C (p.Met65Thr) c.4088T>C (p.Met1363Thr) | |
| X | g.32411768A>T | CA412666041 | DMD | c.4217T>A (p.Met1406Lys) c.185T>A (p.Met62Lys) c.4205T>A (p.Met1402Lys) c.94-46569T>A (n.94-46569T>A) c.94-47058T>A (n.94-47058T>A) n.336-194705T>A c.4193T>A (p.Met1398Lys) c.3848T>A (p.Met1283Lys) c.194T>A (p.Met65Lys) c.4088T>A (p.Met1363Lys) | |
| X | g.32411768dup | CA2524442624 | DMD | c.4217dup (p.Met1406IlefsTer11) c.185dup (p.Met62IlefsTer11) c.4205dup (p.Met1402IlefsTer11) c.94-46569dup (n.94-46569dup) c.94-47058dup (n.94-47058dup) n.336-194705dup c.4193dup (p.Met1398IlefsTer11) c.3848dup (p.Met1283IlefsTer11) c.194dup (p.Met65IlefsTer11) c.4088dup (p.Met1363IlefsTer11) | |
| X | g.32411769T>A | CA412666047 | DMD | c.4216A>T (p.Met1406Leu) c.184A>T (p.Met62Leu) c.4204A>T (p.Met1402Leu) c.94-46570A>T (n.94-46570A>T) c.94-47059A>T (n.94-47059A>T) n.336-194706A>T c.4192A>T (p.Met1398Leu) c.3847A>T (p.Met1283Leu) c.193A>T (p.Met65Leu) c.4087A>T (p.Met1363Leu) | |
| X | g.32411769T>C | CA412666049 | DMD | c.4216A>G (p.Met1406Val) c.184A>G (p.Met62Val) c.4204A>G (p.Met1402Val) c.94-46570A>G (n.94-46570A>G) c.94-47059A>G (n.94-47059A>G) n.336-194706A>G c.4192A>G (p.Met1398Val) c.3847A>G (p.Met1283Val) c.193A>G (p.Met65Val) c.4087A>G (p.Met1363Val) | dbSNP |
| X | g.32411769T>G | CA412666044 | DMD | c.4216A>C (p.Met1406Leu) c.184A>C (p.Met62Leu) c.4204A>C (p.Met1402Leu) c.94-46570A>C (n.94-46570A>C) c.94-47059A>C (n.94-47059A>C) n.336-194706A>C c.4192A>C (p.Met1398Leu) c.3847A>C (p.Met1283Leu) c.193A>C (p.Met65Leu) c.4087A>C (p.Met1363Leu) | |
| X | g.32411769T= | CA2422791672 | DMD | c.4216A= (p.Met1406=) c.184A= (p.Met62=) c.4204A= (p.Met1402=) c.94-46570A= (n.94-46570A=) c.94-47059A= (n.94-47059A=) n.336-194706A= c.4192A= (p.Met1398=) c.3847A= (p.Met1283=) c.193A= (p.Met65=) c.4087A= (p.Met1363=) | |
| X | g.32411770T>A | CA412666052 | DMD | c.4215A>T (p.Gln1405His) c.183A>T (p.Gln61His) c.4203A>T (p.Gln1401His) c.94-46571A>T (n.94-46571A>T) c.94-47060A>T (n.94-47060A>T) n.336-194707A>T c.4191A>T (p.Gln1397His) c.3846A>T (p.Gln1282His) c.192A>T (p.Gln64His) c.4086A>T (p.Gln1362His) | gnomAD v4 |
| X | g.32411770T>C | CA515717285 | DMD | c.4215A>G (p.Gln1405=) c.183A>G (p.Gln61=) c.4203A>G (p.Gln1401=) c.94-46571A>G (n.94-46571A>G) c.94-47060A>G (n.94-47060A>G) n.336-194707A>G c.4191A>G (p.Gln1397=) c.3846A>G (p.Gln1282=) c.192A>G (p.Gln64=) c.4086A>G (p.Gln1362=) | gnomAD v4 |
| X | g.32411770T>G | CA412666053 | DMD | c.4215A>C (p.Gln1405His) c.183A>C (p.Gln61His) c.4203A>C (p.Gln1401His) c.94-46571A>C (n.94-46571A>C) c.94-47060A>C (n.94-47060A>C) n.336-194707A>C c.4191A>C (p.Gln1397His) c.3846A>C (p.Gln1282His) c.192A>C (p.Gln64His) c.4086A>C (p.Gln1362His) | |
| X | g.32411771T>A | CA412666055 | DMD | c.4214A>T (p.Gln1405Leu) c.182A>T (p.Gln61Leu) c.4202A>T (p.Gln1401Leu) c.94-46572A>T (n.94-46572A>T) c.94-47061A>T (n.94-47061A>T) n.336-194708A>T c.4190A>T (p.Gln1397Leu) c.3845A>T (p.Gln1282Leu) c.191A>T (p.Gln64Leu) c.4085A>T (p.Gln1362Leu) | ClinVar dbSNP gnomAD v4 |
| X | g.32411771T>C | CA412666058 | DMD | c.4214A>G (p.Gln1405Arg) c.182A>G (p.Gln61Arg) c.4202A>G (p.Gln1401Arg) c.94-46572A>G (n.94-46572A>G) c.94-47061A>G (n.94-47061A>G) n.336-194708A>G c.4190A>G (p.Gln1397Arg) c.3845A>G (p.Gln1282Arg) c.191A>G (p.Gln64Arg) c.4085A>G (p.Gln1362Arg) | |
| X | g.32411771T>G | CA412666061 | DMD | c.4214A>C (p.Gln1405Pro) c.182A>C (p.Gln61Pro) c.4202A>C (p.Gln1401Pro) c.94-46572A>C (n.94-46572A>C) c.94-47061A>C (n.94-47061A>C) n.336-194708A>C c.4190A>C (p.Gln1397Pro) c.3845A>C (p.Gln1282Pro) c.191A>C (p.Gln64Pro) c.4085A>C (p.Gln1362Pro) | |
| X | g.32411771T= | CA2422791673 | DMD | c.4214A= (p.Gln1405=) c.182A= (p.Gln61=) c.4202A= (p.Gln1401=) c.94-46572A= (n.94-46572A=) c.94-47061A= (n.94-47061A=) n.336-194708A= c.4190A= (p.Gln1397=) c.3845A= (p.Gln1282=) c.191A= (p.Gln64=) c.4085A= (p.Gln1362=) | |
| X | g.32411772G>A | CA341064 | DMD | c.4213C>T (p.Gln1405Ter) c.181C>T (p.Gln61Ter) c.4201C>T (p.Gln1401Ter) c.94-46573C>T (n.94-46573C>T) c.94-47062C>T (n.94-47062C>T) n.336-194709C>T c.4189C>T (p.Gln1397Ter) c.3844C>T (p.Gln1282Ter) c.190C>T (p.Gln64Ter) c.4084C>T (p.Gln1362Ter) | ClinVar dbSNP |
| X | g.32411772G>C | CA412666066 | DMD | c.4213C>G (p.Gln1405Glu) c.181C>G (p.Gln61Glu) c.4201C>G (p.Gln1401Glu) c.94-46573C>G (n.94-46573C>G) c.94-47062C>G (n.94-47062C>G) n.336-194709C>G c.4189C>G (p.Gln1397Glu) c.3844C>G (p.Gln1282Glu) c.190C>G (p.Gln64Glu) c.4084C>G (p.Gln1362Glu) | ClinVar dbSNP gnomAD v4 |
| X | g.32411772G= | CA2422791674 | DMD | c.4213C= (p.Gln1405=) c.181C= (p.Gln61=) c.4201C= (p.Gln1401=) c.94-46573C= (n.94-46573C=) c.94-47062C= (n.94-47062C=) n.336-194709C= c.4189C= (p.Gln1397=) c.3844C= (p.Gln1282=) c.190C= (p.Gln64=) c.4084C= (p.Gln1362=) | |
| X | g.32411772G>T | CA412666064 | DMD | c.4213C>A (p.Gln1405Lys) c.181C>A (p.Gln61Lys) c.4201C>A (p.Gln1401Lys) c.94-46573C>A (n.94-46573C>A) c.94-47062C>A (n.94-47062C>A) n.336-194709C>A c.4189C>A (p.Gln1397Lys) c.3844C>A (p.Gln1282Lys) c.190C>A (p.Gln64Lys) c.4084C>A (p.Gln1362Lys) | gnomAD v4 |
| X | g.32411773A>C | CA515717286 | DMD | c.4212T>G (p.Ala1404=) c.180T>G (p.Ala60=) c.4200T>G (p.Ala1400=) c.94-46574T>G (n.94-46574T>G) c.94-47063T>G (n.94-47063T>G) n.336-194710T>G c.4188T>G (p.Ala1396=) c.3843T>G (p.Ala1281=) c.189T>G (p.Ala63=) c.4083T>G (p.Ala1361=) | |
| X | g.32411773A>G | CA515717288 | DMD | c.4212T>C (p.Ala1404=) c.180T>C (p.Ala60=) c.4200T>C (p.Ala1400=) c.94-46574T>C (n.94-46574T>C) c.94-47063T>C (n.94-47063T>C) n.336-194710T>C c.4188T>C (p.Ala1396=) c.3843T>C (p.Ala1281=) c.189T>C (p.Ala63=) c.4083T>C (p.Ala1361=) | |
| X | g.32411773A>T | CA515717287 | DMD | c.4212T>A (p.Ala1404=) c.180T>A (p.Ala60=) c.4200T>A (p.Ala1400=) c.94-46574T>A (n.94-46574T>A) c.94-47063T>A (n.94-47063T>A) n.336-194710T>A c.4188T>A (p.Ala1396=) c.3843T>A (p.Ala1281=) c.189T>A (p.Ala63=) c.4083T>A (p.Ala1361=) | |
| X | g.32411774G>A | CA412666070 | DMD | c.4211C>T (p.Ala1404Val) c.179C>T (p.Ala60Val) c.4199C>T (p.Ala1400Val) c.94-46575C>T (n.94-46575C>T) c.94-47064C>T (n.94-47064C>T) n.336-194711C>T c.4187C>T (p.Ala1396Val) c.3842C>T (p.Ala1281Val) c.188C>T (p.Ala63Val) c.4082C>T (p.Ala1361Val) | gnomAD v4 |
| X | g.32411774G>C | CA412666071 | DMD | c.4211C>G (p.Ala1404Gly) c.179C>G (p.Ala60Gly) c.4199C>G (p.Ala1400Gly) c.94-46575C>G (n.94-46575C>G) c.94-47064C>G (n.94-47064C>G) n.336-194711C>G c.4187C>G (p.Ala1396Gly) c.3842C>G (p.Ala1281Gly) c.188C>G (p.Ala63Gly) c.4082C>G (p.Ala1361Gly) | |
| X | g.32411774G>T | CA412666072 | DMD | c.4211C>A (p.Ala1404Asp) c.179C>A (p.Ala60Asp) c.4199C>A (p.Ala1400Asp) c.94-46575C>A (n.94-46575C>A) c.94-47064C>A (n.94-47064C>A) n.336-194711C>A c.4187C>A (p.Ala1396Asp) c.3842C>A (p.Ala1281Asp) c.188C>A (p.Ala63Asp) c.4082C>A (p.Ala1361Asp) | |
| X | g.32411775C>A | CA412666075 | DMD | c.4210G>T (p.Ala1404Ser) c.178G>T (p.Ala60Ser) c.4198G>T (p.Ala1400Ser) c.94-46576G>T (n.94-46576G>T) c.94-47065G>T (n.94-47065G>T) n.336-194712G>T c.4186G>T (p.Ala1396Ser) c.3841G>T (p.Ala1281Ser) c.187G>T (p.Ala63Ser) c.4081G>T (p.Ala1361Ser) | |
| X | g.32411775C>G | CA412666078 | DMD | c.4210G>C (p.Ala1404Pro) c.178G>C (p.Ala60Pro) c.4198G>C (p.Ala1400Pro) c.94-46576G>C (n.94-46576G>C) c.94-47065G>C (n.94-47065G>C) n.336-194712G>C c.4186G>C (p.Ala1396Pro) c.3841G>C (p.Ala1281Pro) c.187G>C (p.Ala63Pro) c.4081G>C (p.Ala1361Pro) | ClinVar |
| X | g.32411775C>T | CA412666079 | DMD | c.4210G>A (p.Ala1404Thr) c.178G>A (p.Ala60Thr) c.4198G>A (p.Ala1400Thr) c.94-46576G>A (n.94-46576G>A) c.94-47065G>A (n.94-47065G>A) n.336-194712G>A c.4186G>A (p.Ala1396Thr) c.3841G>A (p.Ala1281Thr) c.187G>A (p.Ala63Thr) c.4081G>A (p.Ala1361Thr) | |
| X | g.32411776T>A | CA515717289 | DMD | c.4209A>T (p.Ala1403=) c.177A>T (p.Ala59=) c.4197A>T (p.Ala1399=) c.94-46577A>T (n.94-46577A>T) c.94-47066A>T (n.94-47066A>T) n.336-194713A>T c.4185A>T (p.Ala1395=) c.3840A>T (p.Ala1280=) c.186A>T (p.Ala62=) c.4080A>T (p.Ala1360=) | |
| X | g.32411776T>C | CA515717290 | DMD | c.4209A>G (p.Ala1403=) c.177A>G (p.Ala59=) c.4197A>G (p.Ala1399=) c.94-46577A>G (n.94-46577A>G) c.94-47066A>G (n.94-47066A>G) n.336-194713A>G c.4185A>G (p.Ala1395=) c.3840A>G (p.Ala1280=) c.186A>G (p.Ala62=) c.4080A>G (p.Ala1360=) | ClinVar |
| X | g.32411776T>G | CA515717291 | DMD | c.4209A>C (p.Ala1403=) c.177A>C (p.Ala59=) c.4197A>C (p.Ala1399=) c.94-46577A>C (n.94-46577A>C) c.94-47066A>C (n.94-47066A>C) n.336-194713A>C c.4185A>C (p.Ala1395=) c.3840A>C (p.Ala1280=) c.186A>C (p.Ala62=) c.4080A>C (p.Ala1360=) | |
| X | g.32411777G>A | CA412666082 | DMD | c.4208C>T (p.Ala1403Val) c.176C>T (p.Ala59Val) c.4196C>T (p.Ala1399Val) c.94-46578C>T (n.94-46578C>T) c.94-47067C>T (n.94-47067C>T) n.336-194714C>T c.4184C>T (p.Ala1395Val) c.3839C>T (p.Ala1280Val) c.185C>T (p.Ala62Val) c.4079C>T (p.Ala1360Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.32411777G>C | CA412666086 | DMD | c.4208C>G (p.Ala1403Gly) c.176C>G (p.Ala59Gly) c.4196C>G (p.Ala1399Gly) c.94-46578C>G (n.94-46578C>G) c.94-47067C>G (n.94-47067C>G) n.336-194714C>G c.4184C>G (p.Ala1395Gly) c.3839C>G (p.Ala1280Gly) c.185C>G (p.Ala62Gly) c.4079C>G (p.Ala1360Gly) | gnomAD v4 |
| X | g.32411777G= | CA2422791675 | DMD | c.4208C= (p.Ala1403=) c.176C= (p.Ala59=) c.4196C= (p.Ala1399=) c.94-46578C= (n.94-46578C=) c.94-47067C= (n.94-47067C=) n.336-194714C= c.4184C= (p.Ala1395=) c.3839C= (p.Ala1280=) c.185C= (p.Ala62=) c.4079C= (p.Ala1360=) | |
| X | g.32411777G>T | CA412666084 | DMD | c.4208C>A (p.Ala1403Glu) c.176C>A (p.Ala59Glu) c.4196C>A (p.Ala1399Glu) c.94-46578C>A (n.94-46578C>A) c.94-47067C>A (n.94-47067C>A) n.336-194714C>A c.4184C>A (p.Ala1395Glu) c.3839C>A (p.Ala1280Glu) c.185C>A (p.Ala62Glu) c.4079C>A (p.Ala1360Glu) | |
| X | g.32411778C>A | CA412666089 | DMD | c.4207G>T (p.Ala1403Ser) c.175G>T (p.Ala59Ser) c.4195G>T (p.Ala1399Ser) c.94-46579G>T (n.94-46579G>T) c.94-47068G>T (n.94-47068G>T) n.336-194715G>T c.4183G>T (p.Ala1395Ser) c.3838G>T (p.Ala1280Ser) c.184G>T (p.Ala62Ser) c.4078G>T (p.Ala1360Ser) | gnomAD v4 |
| X | g.32411778C= | CA2422791676 | DMD | c.4207G= (p.Ala1403=) c.175G= (p.Ala59=) c.4195G= (p.Ala1399=) c.94-46579G= (n.94-46579G=) c.94-47068G= (n.94-47068G=) n.336-194715G= c.4183G= (p.Ala1395=) c.3838G= (p.Ala1280=) c.184G= (p.Ala62=) c.4078G= (p.Ala1360=) | |
| X | g.32411778C>G | CA412666091 | DMD | c.4207G>C (p.Ala1403Pro) c.175G>C (p.Ala59Pro) c.4195G>C (p.Ala1399Pro) c.94-46579G>C (n.94-46579G>C) c.94-47068G>C (n.94-47068G>C) n.336-194715G>C c.4183G>C (p.Ala1395Pro) c.3838G>C (p.Ala1280Pro) c.184G>C (p.Ala62Pro) c.4078G>C (p.Ala1360Pro) | |
| X | g.32411778C>T | CA10379019 | DMD | c.4207G>A (p.Ala1403Thr) c.175G>A (p.Ala59Thr) c.4195G>A (p.Ala1399Thr) c.94-46579G>A (n.94-46579G>A) c.94-47068G>A (n.94-47068G>A) n.336-194715G>A c.4183G>A (p.Ala1395Thr) c.3838G>A (p.Ala1280Thr) c.184G>A (p.Ala62Thr) c.4078G>A (p.Ala1360Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.32411779G>A | CA10379020 | DMD | c.4206C>T (p.Asp1402=) c.174C>T (p.Asp58=) c.4194C>T (p.Asp1398=) c.94-46580C>T (n.94-46580C>T) c.94-47069C>T (n.94-47069C>T) n.336-194716C>T c.4182C>T (p.Asp1394=) c.3837C>T (p.Asp1279=) c.183C>T (p.Asp61=) c.4077C>T (p.Asp1359=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.32411779G>C | CA412666095 | DMD | c.4206C>G (p.Asp1402Glu) c.174C>G (p.Asp58Glu) c.4194C>G (p.Asp1398Glu) c.94-46580C>G (n.94-46580C>G) c.94-47069C>G (n.94-47069C>G) n.336-194716C>G c.4182C>G (p.Asp1394Glu) c.3837C>G (p.Asp1279Glu) c.183C>G (p.Asp61Glu) c.4077C>G (p.Asp1359Glu) | |
| X | g.32411779G= | CA2422791677 | DMD | c.4206C= (p.Asp1402=) c.174C= (p.Asp58=) c.4194C= (p.Asp1398=) c.94-46580C= (n.94-46580C=) c.94-47069C= (n.94-47069C=) n.336-194716C= c.4182C= (p.Asp1394=) c.3837C= (p.Asp1279=) c.183C= (p.Asp61=) c.4077C= (p.Asp1359=) | |
| X | g.32411779G>T | CA412666098 | DMD | c.4206C>A (p.Asp1402Glu) c.174C>A (p.Asp58Glu) c.4194C>A (p.Asp1398Glu) c.94-46580C>A (n.94-46580C>A) c.94-47069C>A (n.94-47069C>A) n.336-194716C>A c.4182C>A (p.Asp1394Glu) c.3837C>A (p.Asp1279Glu) c.183C>A (p.Asp61Glu) c.4077C>A (p.Asp1359Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.32411780T>A | CA412666101 | DMD | c.4205A>T (p.Asp1402Val) c.173A>T (p.Asp58Val) c.4193A>T (p.Asp1398Val) c.94-46581A>T (n.94-46581A>T) c.94-47070A>T (n.94-47070A>T) n.336-194717A>T c.4181A>T (p.Asp1394Val) c.3836A>T (p.Asp1279Val) c.182A>T (p.Asp61Val) c.4076A>T (p.Asp1359Val) | |
| X | g.32411780T>C | CA358162 | DMD | c.4205A>G (p.Asp1402Gly) c.173A>G (p.Asp58Gly) c.4193A>G (p.Asp1398Gly) c.94-46581A>G (n.94-46581A>G) c.94-47070A>G (n.94-47070A>G) n.336-194717A>G c.4181A>G (p.Asp1394Gly) c.3836A>G (p.Asp1279Gly) c.182A>G (p.Asp61Gly) c.4076A>G (p.Asp1359Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.32411780T>G | CA412666105 | DMD | c.4205A>C (p.Asp1402Ala) c.173A>C (p.Asp58Ala) c.4193A>C (p.Asp1398Ala) c.94-46581A>C (n.94-46581A>C) c.94-47070A>C (n.94-47070A>C) n.336-194717A>C c.4181A>C (p.Asp1394Ala) c.3836A>C (p.Asp1279Ala) c.182A>C (p.Asp61Ala) c.4076A>C (p.Asp1359Ala) | |
| X | g.32411780T= | CA2422791678 | DMD | c.4205A= (p.Asp1402=) c.173A= (p.Asp58=) c.4193A= (p.Asp1398=) c.94-46581A= (n.94-46581A=) c.94-47070A= (n.94-47070A=) n.336-194717A= c.4181A= (p.Asp1394=) c.3836A= (p.Asp1279=) c.182A= (p.Asp61=) c.4076A= (p.Asp1359=) | |
| X | g.32411781C>A | CA412666107 | DMD | c.4204G>T (p.Asp1402Tyr) c.172G>T (p.Asp58Tyr) c.4192G>T (p.Asp1398Tyr) c.94-46582G>T (n.94-46582G>T) c.94-47071G>T (n.94-47071G>T) n.336-194718G>T c.4180G>T (p.Asp1394Tyr) c.3835G>T (p.Asp1279Tyr) c.181G>T (p.Asp61Tyr) c.4075G>T (p.Asp1359Tyr) | |
| X | g.32411781C>G | CA412666109 | DMD | c.4204G>C (p.Asp1402His) c.172G>C (p.Asp58His) c.4192G>C (p.Asp1398His) c.94-46582G>C (n.94-46582G>C) c.94-47071G>C (n.94-47071G>C) n.336-194718G>C c.4180G>C (p.Asp1394His) c.3835G>C (p.Asp1279His) c.181G>C (p.Asp61His) c.4075G>C (p.Asp1359His) | |
| X | g.32411781C>T | CA412666111 | DMD | c.4204G>A (p.Asp1402Asn) c.172G>A (p.Asp58Asn) c.4192G>A (p.Asp1398Asn) c.94-46582G>A (n.94-46582G>A) c.94-47071G>A (n.94-47071G>A) n.336-194718G>A c.4180G>A (p.Asp1394Asn) c.3835G>A (p.Asp1279Asn) c.181G>A (p.Asp61Asn) c.4075G>A (p.Asp1359Asn) | |
| X | g.32411782C>A | CA515717295 | DMD | c.4203G>T (p.Val1401=) c.171G>T (p.Val57=) c.4191G>T (p.Val1397=) c.94-46583G>T (n.94-46583G>T) c.94-47072G>T (n.94-47072G>T) n.336-194719G>T c.4179G>T (p.Val1393=) c.3834G>T (p.Val1278=) c.180G>T (p.Val60=) c.4074G>T (p.Val1358=) | |
| X | g.32411782C>G | CA515717296 | DMD | c.4203G>C (p.Val1401=) c.171G>C (p.Val57=) c.4191G>C (p.Val1397=) c.94-46583G>C (n.94-46583G>C) c.94-47072G>C (n.94-47072G>C) n.336-194719G>C c.4179G>C (p.Val1393=) c.3834G>C (p.Val1278=) c.180G>C (p.Val60=) c.4074G>C (p.Val1358=) | |
| X | g.32411782C>T | CA515717297 | DMD | c.4203G>A (p.Val1401=) c.171G>A (p.Val57=) c.4191G>A (p.Val1397=) c.94-46583G>A (n.94-46583G>A) c.94-47072G>A (n.94-47072G>A) n.336-194719G>A c.4179G>A (p.Val1393=) c.3834G>A (p.Val1278=) c.180G>A (p.Val60=) c.4074G>A (p.Val1358=) | ClinVar dbSNP gnomAD v4 |
| X | g.32411783A= | CA2422791679 | DMD | c.4202T= (p.Val1401=) c.170T= (p.Val57=) c.4190T= (p.Val1397=) c.94-46584T= (n.94-46584T=) c.94-47073T= (n.94-47073T=) n.336-194720T= c.4178T= (p.Val1393=) c.3833T= (p.Val1278=) c.179T= (p.Val60=) c.4073T= (p.Val1358=) | |
| X | g.32411783A>C | CA412666118 | DMD | c.4202T>G (p.Val1401Gly) c.170T>G (p.Val57Gly) c.4190T>G (p.Val1397Gly) c.94-46584T>G (n.94-46584T>G) c.94-47073T>G (n.94-47073T>G) n.336-194720T>G c.4178T>G (p.Val1393Gly) c.3833T>G (p.Val1278Gly) c.179T>G (p.Val60Gly) c.4073T>G (p.Val1358Gly) | |
| X | g.32411783A>G | CA10379021 | DMD | c.4202T>C (p.Val1401Ala) c.170T>C (p.Val57Ala) c.4190T>C (p.Val1397Ala) c.94-46584T>C (n.94-46584T>C) c.94-47073T>C (n.94-47073T>C) n.336-194720T>C c.4178T>C (p.Val1393Ala) c.3833T>C (p.Val1278Ala) c.179T>C (p.Val60Ala) c.4073T>C (p.Val1358Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.32411783A>T | CA412666115 | DMD | c.4202T>A (p.Val1401Glu) c.170T>A (p.Val57Glu) c.4190T>A (p.Val1397Glu) c.94-46584T>A (n.94-46584T>A) c.94-47073T>A (n.94-47073T>A) n.336-194720T>A c.4178T>A (p.Val1393Glu) c.3833T>A (p.Val1278Glu) c.179T>A (p.Val60Glu) c.4073T>A (p.Val1358Glu) | |
| X | g.32411784C>A | CA412666120 | DMD | c.4201G>T (p.Val1401Leu) c.169G>T (p.Val57Leu) c.4189G>T (p.Val1397Leu) c.94-46585G>T (n.94-46585G>T) c.94-47074G>T (n.94-47074G>T) n.336-194721G>T c.4177G>T (p.Val1393Leu) c.3832G>T (p.Val1278Leu) c.178G>T (p.Val60Leu) c.4072G>T (p.Val1358Leu) | |
| X | g.32411784C= | CA2422791680 | DMD | c.4201G= (p.Val1401=) c.169G= (p.Val57=) c.4189G= (p.Val1397=) c.94-46585G= (n.94-46585G=) c.94-47074G= (n.94-47074G=) n.336-194721G= c.4177G= (p.Val1393=) c.3832G= (p.Val1278=) c.178G= (p.Val60=) c.4072G= (p.Val1358=) | |
| X | g.32411784C>G | CA412666123 | DMD | c.4201G>C (p.Val1401Leu) c.169G>C (p.Val57Leu) c.4189G>C (p.Val1397Leu) c.94-46585G>C (n.94-46585G>C) c.94-47074G>C (n.94-47074G>C) n.336-194721G>C c.4177G>C (p.Val1393Leu) c.3832G>C (p.Val1278Leu) c.178G>C (p.Val60Leu) c.4072G>C (p.Val1358Leu) | |
| X | g.32411784C>T | CA10379022 | DMD | c.4201G>A (p.Val1401Met) c.169G>A (p.Val57Met) c.4189G>A (p.Val1397Met) c.94-46585G>A (n.94-46585G>A) c.94-47074G>A (n.94-47074G>A) n.336-194721G>A c.4177G>A (p.Val1393Met) c.3832G>A (p.Val1278Met) c.178G>A (p.Val60Met) c.4072G>A (p.Val1358Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.32411785C>A | CA412666127 | DMD | c.4200G>T (p.Lys1400Asn) c.168G>T (p.Lys56Asn) c.4188G>T (p.Lys1396Asn) c.94-46586G>T (n.94-46586G>T) c.94-47075G>T (n.94-47075G>T) n.336-194722G>T c.4176G>T (p.Lys1392Asn) c.3831G>T (p.Lys1277Asn) c.177G>T (p.Lys59Asn) c.4071G>T (p.Lys1357Asn) | |
| X | g.32411785C= | CA2422791681 | DMD | c.4200G= (p.Lys1400=) c.168G= (p.Lys56=) c.4188G= (p.Lys1396=) c.94-46586G= (n.94-46586G=) c.94-47075G= (n.94-47075G=) n.336-194722G= c.4176G= (p.Lys1392=) c.3831G= (p.Lys1277=) c.177G= (p.Lys59=) c.4071G= (p.Lys1357=) | |
| X | g.32411785C>G | CA412666130 | DMD | c.4200G>C (p.Lys1400Asn) c.168G>C (p.Lys56Asn) c.4188G>C (p.Lys1396Asn) c.94-46586G>C (n.94-46586G>C) c.94-47075G>C (n.94-47075G>C) n.336-194722G>C c.4176G>C (p.Lys1392Asn) c.3831G>C (p.Lys1277Asn) c.177G>C (p.Lys59Asn) c.4071G>C (p.Lys1357Asn) | |
| X | g.32411785C>T | CA328007494 | DMD | c.4200G>A (p.Lys1400=) c.168G>A (p.Lys56=) c.4188G>A (p.Lys1396=) c.94-46586G>A (n.94-46586G>A) c.94-47075G>A (n.94-47075G>A) n.336-194722G>A c.4176G>A (p.Lys1392=) c.3831G>A (p.Lys1277=) c.177G>A (p.Lys59=) c.4071G>A (p.Lys1357=) | ClinVar dbSNP |
| X | g.32411786T>A | CA412666132 | DMD | c.4199A>T (p.Lys1400Met) c.167A>T (p.Lys56Met) c.4187A>T (p.Lys1396Met) c.94-46587A>T (n.94-46587A>T) c.94-47076A>T (n.94-47076A>T) n.336-194723A>T c.4175A>T (p.Lys1392Met) c.3830A>T (p.Lys1277Met) c.176A>T (p.Lys59Met) c.4070A>T (p.Lys1357Met) | |
| X | g.32411786T>C | CA412666135 | DMD | c.4199A>G (p.Lys1400Arg) c.167A>G (p.Lys56Arg) c.4187A>G (p.Lys1396Arg) c.94-46587A>G (n.94-46587A>G) c.94-47076A>G (n.94-47076A>G) n.336-194723A>G c.4175A>G (p.Lys1392Arg) c.3830A>G (p.Lys1277Arg) c.176A>G (p.Lys59Arg) c.4070A>G (p.Lys1357Arg) | |
| X | g.32411786T>G | CA412666136 | DMD | c.4199A>C (p.Lys1400Thr) c.167A>C (p.Lys56Thr) c.4187A>C (p.Lys1396Thr) c.94-46587A>C (n.94-46587A>C) c.94-47076A>C (n.94-47076A>C) n.336-194723A>C c.4175A>C (p.Lys1392Thr) c.3830A>C (p.Lys1277Thr) c.176A>C (p.Lys59Thr) c.4070A>C (p.Lys1357Thr) | |
| X | g.32411787T>A | CA412666138 | DMD | c.4198A>T (p.Lys1400Ter) c.166A>T (p.Lys56Ter) c.4186A>T (p.Lys1396Ter) c.94-46588A>T (n.94-46588A>T) c.94-47077A>T (n.94-47077A>T) n.336-194724A>T c.4174A>T (p.Lys1392Ter) c.3829A>T (p.Lys1277Ter) c.175A>T (p.Lys59Ter) c.4069A>T (p.Lys1357Ter) | ClinVar |
| X | g.32411787T>C | CA412666139 | DMD | c.4198A>G (p.Lys1400Glu) c.166A>G (p.Lys56Glu) c.4186A>G (p.Lys1396Glu) c.94-46588A>G (n.94-46588A>G) c.94-47077A>G (n.94-47077A>G) n.336-194724A>G c.4174A>G (p.Lys1392Glu) c.3829A>G (p.Lys1277Glu) c.175A>G (p.Lys59Glu) c.4069A>G (p.Lys1357Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.32411787T>G | CA412666142 | DMD | c.4198A>C (p.Lys1400Gln) c.166A>C (p.Lys56Gln) c.4186A>C (p.Lys1396Gln) c.94-46588A>C (n.94-46588A>C) c.94-47077A>C (n.94-47077A>C) n.336-194724A>C c.4174A>C (p.Lys1392Gln) c.3829A>C (p.Lys1277Gln) c.175A>C (p.Lys59Gln) c.4069A>C (p.Lys1357Gln) | |
| X | g.32411787T= | CA2422791682 | DMD | c.4198A= (p.Lys1400=) c.166A= (p.Lys56=) c.4186A= (p.Lys1396=) c.94-46588A= (n.94-46588A=) c.94-47077A= (n.94-47077A=) n.336-194724A= c.4174A= (p.Lys1392=) c.3829A= (p.Lys1277=) c.175A= (p.Lys59=) c.4069A= (p.Lys1357=) | |
| X | g.32411788G>A | CA515717301 | DMD | c.4197C>T (p.Asp1399=) c.165C>T (p.Asp55=) c.4185C>T (p.Asp1395=) c.94-46589C>T (n.94-46589C>T) c.94-47078C>T (n.94-47078C>T) n.336-194725C>T c.4173C>T (p.Asp1391=) c.3828C>T (p.Asp1276=) c.174C>T (p.Asp58=) c.4068C>T (p.Asp1356=) | ClinVar dbSNP gnomAD v4 |
| X | g.32411788G>C | CA412666144 | DMD | c.4197C>G (p.Asp1399Glu) c.165C>G (p.Asp55Glu) c.4185C>G (p.Asp1395Glu) c.94-46589C>G (n.94-46589C>G) c.94-47078C>G (n.94-47078C>G) n.336-194725C>G c.4173C>G (p.Asp1391Glu) c.3828C>G (p.Asp1276Glu) c.174C>G (p.Asp58Glu) c.4068C>G (p.Asp1356Glu) | |
| X | g.32411788G= | CA2422791683 | DMD | c.4197C= (p.Asp1399=) c.165C= (p.Asp55=) c.4185C= (p.Asp1395=) c.94-46589C= (n.94-46589C=) c.94-47078C= (n.94-47078C=) n.336-194725C= c.4173C= (p.Asp1391=) c.3828C= (p.Asp1276=) c.174C= (p.Asp58=) c.4068C= (p.Asp1356=) | |
| X | g.32411788G>T | CA412666146 | DMD | c.4197C>A (p.Asp1399Glu) c.165C>A (p.Asp55Glu) c.4185C>A (p.Asp1395Glu) c.94-46589C>A (n.94-46589C>A) c.94-47078C>A (n.94-47078C>A) n.336-194725C>A c.4173C>A (p.Asp1391Glu) c.3828C>A (p.Asp1276Glu) c.174C>A (p.Asp58Glu) c.4068C>A (p.Asp1356Glu) | |
| X | g.32411789T>A | CA412666147 | DMD | c.4196A>T (p.Asp1399Val) c.164A>T (p.Asp55Val) c.4184A>T (p.Asp1395Val) c.94-46590A>T (n.94-46590A>T) c.94-47079A>T (n.94-47079A>T) n.336-194726A>T c.4172A>T (p.Asp1391Val) c.3827A>T (p.Asp1276Val) c.173A>T (p.Asp58Val) c.4067A>T (p.Asp1356Val) | |
| X | g.32411789T>C | CA10379023 | DMD | c.4196A>G (p.Asp1399Gly) c.164A>G (p.Asp55Gly) c.4184A>G (p.Asp1395Gly) c.94-46590A>G (n.94-46590A>G) c.94-47079A>G (n.94-47079A>G) n.336-194726A>G c.4172A>G (p.Asp1391Gly) c.3827A>G (p.Asp1276Gly) c.173A>G (p.Asp58Gly) c.4067A>G (p.Asp1356Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.32411789T>G | CA412666148 | DMD | c.4196A>C (p.Asp1399Ala) c.164A>C (p.Asp55Ala) c.4184A>C (p.Asp1395Ala) c.94-46590A>C (n.94-46590A>C) c.94-47079A>C (n.94-47079A>C) n.336-194726A>C c.4172A>C (p.Asp1391Ala) c.3827A>C (p.Asp1276Ala) c.173A>C (p.Asp58Ala) c.4067A>C (p.Asp1356Ala) | |
| X | g.32411789T= | CA2422791684 | DMD | c.4196A= (p.Asp1399=) c.164A= (p.Asp55=) c.4184A= (p.Asp1395=) c.94-46590A= (n.94-46590A=) c.94-47079A= (n.94-47079A=) n.336-194726A= c.4172A= (p.Asp1391=) c.3827A= (p.Asp1276=) c.173A= (p.Asp58=) c.4067A= (p.Asp1356=) | |
| X | g.32411790C>A | CA412666160 | DMD | c.4195G>T (p.Asp1399Tyr) c.163G>T (p.Asp55Tyr) c.4183G>T (p.Asp1395Tyr) c.94-46591G>T (n.94-46591G>T) c.94-47080G>T (n.94-47080G>T) n.336-194727G>T c.4171G>T (p.Asp1391Tyr) c.3826G>T (p.Asp1276Tyr) c.172G>T (p.Asp58Tyr) c.4066G>T (p.Asp1356Tyr) | |
| X | g.32411790C>G | CA412666155 | DMD | c.4195G>C (p.Asp1399His) c.163G>C (p.Asp55His) c.4183G>C (p.Asp1395His) c.94-46591G>C (n.94-46591G>C) c.94-47080G>C (n.94-47080G>C) n.336-194727G>C c.4171G>C (p.Asp1391His) c.3826G>C (p.Asp1276His) c.172G>C (p.Asp58His) c.4066G>C (p.Asp1356His) | |
| X | g.32411790C>T | CA412666158 | DMD | c.4195G>A (p.Asp1399Asn) c.163G>A (p.Asp55Asn) c.4183G>A (p.Asp1395Asn) c.94-46591G>A (n.94-46591G>A) c.94-47080G>A (n.94-47080G>A) n.336-194727G>A c.4171G>A (p.Asp1391Asn) c.3826G>A (p.Asp1276Asn) c.172G>A (p.Asp58Asn) c.4066G>A (p.Asp1356Asn) | COSMIC COSMIC COSMIC COSMIC |
| X | g.32411791T>A | CA515717304 | DMD | c.4194A>T (p.Ala1398=) c.162A>T (p.Ala54=) c.4182A>T (p.Ala1394=) c.94-46592A>T (n.94-46592A>T) c.94-47081A>T (n.94-47081A>T) n.336-194728A>T c.4170A>T (p.Ala1390=) c.3825A>T (p.Ala1275=) c.171A>T (p.Ala57=) c.4065A>T (p.Ala1355=) | |
| X | g.32411791T>C | CA515717305 | DMD | c.4194A>G (p.Ala1398=) c.162A>G (p.Ala54=) c.4182A>G (p.Ala1394=) c.94-46592A>G (n.94-46592A>G) c.94-47081A>G (n.94-47081A>G) n.336-194728A>G c.4170A>G (p.Ala1390=) c.3825A>G (p.Ala1275=) c.171A>G (p.Ala57=) c.4065A>G (p.Ala1355=) | |
| X | g.32411791T>G | CA515717307 | DMD | c.4194A>C (p.Ala1398=) c.162A>C (p.Ala54=) c.4182A>C (p.Ala1394=) c.94-46592A>C (n.94-46592A>C) c.94-47081A>C (n.94-47081A>C) n.336-194728A>C c.4170A>C (p.Ala1390=) c.3825A>C (p.Ala1275=) c.171A>C (p.Ala57=) c.4065A>C (p.Ala1355=) | |
| X | g.32411792G>A | CA412666161 | DMD | c.4193C>T (p.Ala1398Val) c.161C>T (p.Ala54Val) c.4181C>T (p.Ala1394Val) c.94-46593C>T (n.94-46593C>T) c.94-47082C>T (n.94-47082C>T) n.336-194729C>T c.4169C>T (p.Ala1390Val) c.3824C>T (p.Ala1275Val) c.170C>T (p.Ala57Val) c.4064C>T (p.Ala1355Val) | gnomAD v4 |
| X | g.32411792G>C | CA412666162 | DMD | c.4193C>G (p.Ala1398Gly) c.161C>G (p.Ala54Gly) c.4181C>G (p.Ala1394Gly) c.94-46593C>G (n.94-46593C>G) c.94-47082C>G (n.94-47082C>G) n.336-194729C>G c.4169C>G (p.Ala1390Gly) c.3824C>G (p.Ala1275Gly) c.170C>G (p.Ala57Gly) c.4064C>G (p.Ala1355Gly) | |
| X | g.32411792G>T | CA412666165 | DMD | c.4193C>A (p.Ala1398Glu) c.161C>A (p.Ala54Glu) c.4181C>A (p.Ala1394Glu) c.94-46593C>A (n.94-46593C>A) c.94-47082C>A (n.94-47082C>A) n.336-194729C>A c.4169C>A (p.Ala1390Glu) c.3824C>A (p.Ala1275Glu) c.170C>A (p.Ala57Glu) c.4064C>A (p.Ala1355Glu) | gnomAD v4 |
| X | g.32411793C>A | CA412666167 | DMD | c.4192G>T (p.Ala1398Ser) c.160G>T (p.Ala54Ser) c.4180G>T (p.Ala1394Ser) c.94-46594G>T (n.94-46594G>T) c.94-47083G>T (n.94-47083G>T) n.336-194730G>T c.4168G>T (p.Ala1390Ser) c.3823G>T (p.Ala1275Ser) c.169G>T (p.Ala57Ser) c.4063G>T (p.Ala1355Ser) | dbSNP COSMIC COSMIC COSMIC COSMIC |
| X | g.32411793C= | CA2422791685 | DMD | c.4192G= (p.Ala1398=) c.160G= (p.Ala54=) c.4180G= (p.Ala1394=) c.94-46594G= (n.94-46594G=) c.94-47083G= (n.94-47083G=) n.336-194730G= c.4168G= (p.Ala1390=) c.3823G= (p.Ala1275=) c.169G= (p.Ala57=) c.4063G= (p.Ala1355=) | |
| X | g.32411793C>G | CA412666168 | DMD | c.4192G>C (p.Ala1398Pro) c.160G>C (p.Ala54Pro) c.4180G>C (p.Ala1394Pro) c.94-46594G>C (n.94-46594G>C) c.94-47083G>C (n.94-47083G>C) n.336-194730G>C c.4168G>C (p.Ala1390Pro) c.3823G>C (p.Ala1275Pro) c.169G>C (p.Ala57Pro) c.4063G>C (p.Ala1355Pro) | |
| X | g.32411793C>T | CA412666173 | DMD | c.4192G>A (p.Ala1398Thr) c.160G>A (p.Ala54Thr) c.4180G>A (p.Ala1394Thr) c.94-46594G>A (n.94-46594G>A) c.94-47083G>A (n.94-47083G>A) n.336-194730G>A c.4168G>A (p.Ala1390Thr) c.3823G>A (p.Ala1275Thr) c.169G>A (p.Ala57Thr) c.4063G>A (p.Ala1355Thr) | |
| X | g.32411794A= | CA2422791686 | DMD | c.4191T= (p.Ile1397=) c.159T= (p.Ile53=) c.4179T= (p.Ile1393=) c.94-46595T= (n.94-46595T=) c.94-47084T= (n.94-47084T=) n.336-194731T= c.4167T= (p.Ile1389=) c.3822T= (p.Ile1274=) c.168T= (p.Ile56=) c.4062T= (p.Ile1354=) | |
| X | g.32411794A>C | CA10379024 | DMD | c.4191T>G (p.Ile1397Met) c.159T>G (p.Ile53Met) c.4179T>G (p.Ile1393Met) c.94-46595T>G (n.94-46595T>G) c.94-47084T>G (n.94-47084T>G) n.336-194731T>G c.4167T>G (p.Ile1389Met) c.3822T>G (p.Ile1274Met) c.168T>G (p.Ile56Met) c.4062T>G (p.Ile1354Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.32411794A>G | CA515717309 | DMD | c.4191T>C (p.Ile1397=) c.159T>C (p.Ile53=) c.4179T>C (p.Ile1393=) c.94-46595T>C (n.94-46595T>C) c.94-47084T>C (n.94-47084T>C) n.336-194731T>C c.4167T>C (p.Ile1389=) c.3822T>C (p.Ile1274=) c.168T>C (p.Ile56=) c.4062T>C (p.Ile1354=) | |
| X | g.32411794A>T | CA515717308 | DMD | c.4191T>A (p.Ile1397=) c.159T>A (p.Ile53=) c.4179T>A (p.Ile1393=) c.94-46595T>A (n.94-46595T>A) c.94-47084T>A (n.94-47084T>A) n.336-194731T>A c.4167T>A (p.Ile1389=) c.3822T>A (p.Ile1274=) c.168T>A (p.Ile56=) c.4062T>A (p.Ile1354=) | gnomAD v4 |
| X | g.32411795dup | CA2697552960 | DMD | c.4191dup (p.Ala1398CysfsTer19) c.159dup (p.Ala54CysfsTer19) c.4179dup (p.Ala1394CysfsTer19) c.94-46595dup (n.94-46595dup) c.94-47084dup (n.94-47084dup) n.336-194731dup c.4167dup (p.Ala1390CysfsTer19) c.3822dup (p.Ala1275CysfsTer19) c.168dup (p.Ala57CysfsTer19) c.4062dup (p.Ala1355CysfsTer19) | ClinVar |
| X | g.32411795A= | CA2422791687 | DMD | c.4190T= (p.Ile1397=) c.158T= (p.Ile53=) c.4178T= (p.Ile1393=) c.94-46596T= (n.94-46596T=) c.94-47085T= (n.94-47085T=) n.336-194732T= c.4166T= (p.Ile1389=) c.3821T= (p.Ile1274=) c.167T= (p.Ile56=) c.4061T= (p.Ile1354=) | |
| X | g.32411795A>C | CA412666181 | DMD | c.4190T>G (p.Ile1397Ser) c.158T>G (p.Ile53Ser) c.4178T>G (p.Ile1393Ser) c.94-46596T>G (n.94-46596T>G) c.94-47085T>G (n.94-47085T>G) n.336-194732T>G c.4166T>G (p.Ile1389Ser) c.3821T>G (p.Ile1274Ser) c.167T>G (p.Ile56Ser) c.4061T>G (p.Ile1354Ser) | |
| X | g.32411795A>G | CA328007504 | DMD | c.4190T>C (p.Ile1397Thr) c.158T>C (p.Ile53Thr) c.4178T>C (p.Ile1393Thr) c.94-46596T>C (n.94-46596T>C) c.94-47085T>C (n.94-47085T>C) n.336-194732T>C c.4166T>C (p.Ile1389Thr) c.3821T>C (p.Ile1274Thr) c.167T>C (p.Ile56Thr) c.4061T>C (p.Ile1354Thr) | ClinVar dbSNP gnomAD v4 |
| X | g.32411795A>T | CA412666183 | DMD | c.4190T>A (p.Ile1397Asn) c.158T>A (p.Ile53Asn) c.4178T>A (p.Ile1393Asn) c.94-46596T>A (n.94-46596T>A) c.94-47085T>A (n.94-47085T>A) n.336-194732T>A c.4166T>A (p.Ile1389Asn) c.3821T>A (p.Ile1274Asn) c.167T>A (p.Ile56Asn) c.4061T>A (p.Ile1354Asn) | |
| X | g.32411796T>A | CA412666187 | DMD | c.4189A>T (p.Ile1397Phe) c.157A>T (p.Ile53Phe) c.4177A>T (p.Ile1393Phe) c.94-46597A>T (n.94-46597A>T) c.94-47086A>T (n.94-47086A>T) n.336-194733A>T c.4165A>T (p.Ile1389Phe) c.3820A>T (p.Ile1274Phe) c.166A>T (p.Ile56Phe) c.4060A>T (p.Ile1354Phe) | |
| X | g.32411796T>C | CA412666189 | DMD | c.4189A>G (p.Ile1397Val) c.157A>G (p.Ile53Val) c.4177A>G (p.Ile1393Val) c.94-46597A>G (n.94-46597A>G) c.94-47086A>G (n.94-47086A>G) n.336-194733A>G c.4165A>G (p.Ile1389Val) c.3820A>G (p.Ile1274Val) c.166A>G (p.Ile56Val) c.4060A>G (p.Ile1354Val) | dbSNP |
| X | g.32411796T>G | CA412666186 | DMD | c.4189A>C (p.Ile1397Leu) c.157A>C (p.Ile53Leu) c.4177A>C (p.Ile1393Leu) c.94-46597A>C (n.94-46597A>C) c.94-47086A>C (n.94-47086A>C) n.336-194733A>C c.4165A>C (p.Ile1389Leu) c.3820A>C (p.Ile1274Leu) c.166A>C (p.Ile56Leu) c.4060A>C (p.Ile1354Leu) | |
| X | g.32411796T= | CA2422791688 | DMD | c.4189A= (p.Ile1397=) c.157A= (p.Ile53=) c.4177A= (p.Ile1393=) c.94-46597A= (n.94-46597A=) c.94-47086A= (n.94-47086A=) n.336-194733A= c.4165A= (p.Ile1389=) c.3820A= (p.Ile1274=) c.166A= (p.Ile56=) c.4060A= (p.Ile1354=) | |
| X | g.32411797A= | CA2422791689 | DMD | c.4188T= (p.Tyr1396=) c.156T= (p.Tyr52=) c.4176T= (p.Tyr1392=) c.94-46598T= (n.94-46598T=) c.94-47087T= (n.94-47087T=) n.336-194734T= c.4164T= (p.Tyr1388=) c.3819T= (p.Tyr1273=) c.165T= (p.Tyr55=) c.4059T= (p.Tyr1353=) | |
| X | g.32411797A>C | CA412666192 | DMD | c.4188T>G (p.Tyr1396Ter) c.156T>G (p.Tyr52Ter) c.4176T>G (p.Tyr1392Ter) c.94-46598T>G (n.94-46598T>G) c.94-47087T>G (n.94-47087T>G) n.336-194734T>G c.4164T>G (p.Tyr1388Ter) c.3819T>G (p.Tyr1273Ter) c.165T>G (p.Tyr55Ter) c.4059T>G (p.Tyr1353Ter) | |
| X | g.32411797A>G | CA515717312 | DMD | c.4188T>C (p.Tyr1396=) c.156T>C (p.Tyr52=) c.4176T>C (p.Tyr1392=) c.94-46598T>C (n.94-46598T>C) c.94-47087T>C (n.94-47087T>C) n.336-194734T>C c.4164T>C (p.Tyr1388=) c.3819T>C (p.Tyr1273=) c.165T>C (p.Tyr55=) c.4059T>C (p.Tyr1353=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.32411797A>T | CA412666195 | DMD | c.4188T>A (p.Tyr1396Ter) c.156T>A (p.Tyr52Ter) c.4176T>A (p.Tyr1392Ter) c.94-46598T>A (n.94-46598T>A) c.94-47087T>A (n.94-47087T>A) n.336-194734T>A c.4164T>A (p.Tyr1388Ter) c.3819T>A (p.Tyr1273Ter) c.165T>A (p.Tyr55Ter) c.4059T>A (p.Tyr1353Ter) | |
| X | g.32411798T>A | CA412666200 | DMD | c.4187A>T (p.Tyr1396Phe) c.155A>T (p.Tyr52Phe) c.4175A>T (p.Tyr1392Phe) c.94-46599A>T (n.94-46599A>T) c.94-47088A>T (n.94-47088A>T) n.336-194735A>T c.4163A>T (p.Tyr1388Phe) c.3818A>T (p.Tyr1273Phe) c.164A>T (p.Tyr55Phe) c.4058A>T (p.Tyr1353Phe) | |
| X | g.32411798T>C | CA412666202 | DMD | c.4187A>G (p.Tyr1396Cys) c.155A>G (p.Tyr52Cys) c.4175A>G (p.Tyr1392Cys) c.94-46599A>G (n.94-46599A>G) c.94-47088A>G (n.94-47088A>G) n.336-194735A>G c.4163A>G (p.Tyr1388Cys) c.3818A>G (p.Tyr1273Cys) c.164A>G (p.Tyr55Cys) c.4058A>G (p.Tyr1353Cys) | ClinVar dbSNP gnomAD v4 |
| X | g.32411798T>G | CA412666205 | DMD | c.4187A>C (p.Tyr1396Ser) c.155A>C (p.Tyr52Ser) c.4175A>C (p.Tyr1392Ser) c.94-46599A>C (n.94-46599A>C) c.94-47088A>C (n.94-47088A>C) n.336-194735A>C c.4163A>C (p.Tyr1388Ser) c.3818A>C (p.Tyr1273Ser) c.164A>C (p.Tyr55Ser) c.4058A>C (p.Tyr1353Ser) | |
| X | g.32411798T= | CA2422791690 | DMD | c.4187A= (p.Tyr1396=) c.155A= (p.Tyr52=) c.4175A= (p.Tyr1392=) c.94-46599A= (n.94-46599A=) c.94-47088A= (n.94-47088A=) n.336-194735A= c.4163A= (p.Tyr1388=) c.3818A= (p.Tyr1273=) c.164A= (p.Tyr55=) c.4058A= (p.Tyr1353=) | |
| X | g.32411798dup | CA2695232798 | DMD | c.4187dup (p.Tyr1396Ter) c.155dup (p.Tyr52Ter) c.4175dup (p.Tyr1392Ter) c.94-46599dup (n.94-46599dup) c.94-47088dup (n.94-47088dup) n.336-194735dup c.4163dup (p.Tyr1388Ter) c.3818dup (p.Tyr1273Ter) c.164dup (p.Tyr55Ter) c.4058dup (p.Tyr1353Ter) | |
| X | g.32411799A= | CA2422791691 | DMD | c.4186T= (p.Tyr1396=) c.154T= (p.Tyr52=) c.4174T= (p.Tyr1392=) c.94-46600T= (n.94-46600T=) c.94-47089T= (n.94-47089T=) n.336-194736T= c.4162T= (p.Tyr1388=) c.3817T= (p.Tyr1273=) c.163T= (p.Tyr55=) c.4057T= (p.Tyr1353=) | |
| X | g.32411799A>C | CA412666211 | DMD | c.4186T>G (p.Tyr1396Asp) c.154T>G (p.Tyr52Asp) c.4174T>G (p.Tyr1392Asp) c.94-46600T>G (n.94-46600T>G) c.94-47089T>G (n.94-47089T>G) n.336-194736T>G c.4162T>G (p.Tyr1388Asp) c.3817T>G (p.Tyr1273Asp) c.163T>G (p.Tyr55Asp) c.4057T>G (p.Tyr1353Asp) | |
| X | g.32411799A>G | CA412666214 | DMD | c.4186T>C (p.Tyr1396His) c.154T>C (p.Tyr52His) c.4174T>C (p.Tyr1392His) c.94-46600T>C (n.94-46600T>C) c.94-47089T>C (n.94-47089T>C) n.336-194736T>C c.4162T>C (p.Tyr1388His) c.3817T>C (p.Tyr1273His) c.163T>C (p.Tyr55His) c.4057T>C (p.Tyr1353His) | dbSNP |
| X | g.32411799A>T | CA412666218 | DMD | c.4186T>A (p.Tyr1396Asn) c.154T>A (p.Tyr52Asn) c.4174T>A (p.Tyr1392Asn) c.94-46600T>A (n.94-46600T>A) c.94-47089T>A (n.94-47089T>A) n.336-194736T>A c.4162T>A (p.Tyr1388Asn) c.3817T>A (p.Tyr1273Asn) c.163T>A (p.Tyr55Asn) c.4057T>A (p.Tyr1353Asn) | |
| X | g.32411800del | CA2695232799 | DMD | c.4186del (p.Tyr1396IlefsTer22) c.154del (p.Tyr52IlefsTer22) c.4174del (p.Tyr1392IlefsTer22) c.94-46600del (n.94-46600del) c.94-47089del (n.94-47089del) n.336-194736del c.4162del (p.Tyr1388IlefsTer22) c.3817del (p.Tyr1273IlefsTer22) c.163del (p.Tyr55IlefsTer22) c.4057del (p.Tyr1353IlefsTer22) | |
| X | g.32411800A>C | CA515717315 | DMD | c.4185T>G (p.Ala1395=) c.153T>G (p.Ala51=) c.4173T>G (p.Ala1391=) c.94-46601T>G (n.94-46601T>G) c.94-47090T>G (n.94-47090T>G) n.336-194737T>G c.4161T>G (p.Ala1387=) c.3816T>G (p.Ala1272=) c.162T>G (p.Ala54=) c.4056T>G (p.Ala1352=) | |
| X | g.32411800A>G | CA515717317 | DMD | c.4185T>C (p.Ala1395=) c.153T>C (p.Ala51=) c.4173T>C (p.Ala1391=) c.94-46601T>C (n.94-46601T>C) c.94-47090T>C (n.94-47090T>C) n.336-194737T>C c.4161T>C (p.Ala1387=) c.3816T>C (p.Ala1272=) c.162T>C (p.Ala54=) c.4056T>C (p.Ala1352=) | |
| X | g.32411800A>T | CA515717316 | DMD | c.4185T>A (p.Ala1395=) c.153T>A (p.Ala51=) c.4173T>A (p.Ala1391=) c.94-46601T>A (n.94-46601T>A) c.94-47090T>A (n.94-47090T>A) n.336-194737T>A c.4161T>A (p.Ala1387=) c.3816T>A (p.Ala1272=) c.162T>A (p.Ala54=) c.4056T>A (p.Ala1352=) | |
| X | g.32411801G>A | CA10379025 | DMD | c.4184C>T (p.Ala1395Val) c.152C>T (p.Ala51Val) c.4172C>T (p.Ala1391Val) c.94-46602C>T (n.94-46602C>T) c.94-47091C>T (n.94-47091C>T) n.336-194738C>T c.4160C>T (p.Ala1387Val) c.3815C>T (p.Ala1272Val) c.161C>T (p.Ala54Val) c.4055C>T (p.Ala1352Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.32411801G>C | CA412666222 | DMD | c.4184C>G (p.Ala1395Gly) c.152C>G (p.Ala51Gly) c.4172C>G (p.Ala1391Gly) c.94-46602C>G (n.94-46602C>G) c.94-47091C>G (n.94-47091C>G) n.336-194738C>G c.4160C>G (p.Ala1387Gly) c.3815C>G (p.Ala1272Gly) c.161C>G (p.Ala54Gly) c.4055C>G (p.Ala1352Gly) | |
| X | g.32411801G= | CA2422791692 | DMD | c.4184C= (p.Ala1395=) c.152C= (p.Ala51=) c.4172C= (p.Ala1391=) c.94-46602C= (n.94-46602C=) c.94-47091C= (n.94-47091C=) n.336-194738C= c.4160C= (p.Ala1387=) c.3815C= (p.Ala1272=) c.161C= (p.Ala54=) c.4055C= (p.Ala1352=) | |
| X | g.32411801G>T | CA412666224 | DMD | c.4184C>A (p.Ala1395Asp) c.152C>A (p.Ala51Asp) c.4172C>A (p.Ala1391Asp) c.94-46602C>A (n.94-46602C>A) c.94-47091C>A (n.94-47091C>A) n.336-194738C>A c.4160C>A (p.Ala1387Asp) c.3815C>A (p.Ala1272Asp) c.161C>A (p.Ala54Asp) c.4055C>A (p.Ala1352Asp) | |
| X | g.32411802C>A | CA412666230 | DMD | c.4183G>T (p.Ala1395Ser) c.151G>T (p.Ala51Ser) c.4171G>T (p.Ala1391Ser) c.94-46603G>T (n.94-46603G>T) c.94-47092G>T (n.94-47092G>T) n.336-194739G>T c.4159G>T (p.Ala1387Ser) c.3814G>T (p.Ala1272Ser) c.160G>T (p.Ala54Ser) c.4054G>T (p.Ala1352Ser) | |
| X | g.32411802C>G | CA412666229 | DMD | c.4183G>C (p.Ala1395Pro) c.151G>C (p.Ala51Pro) c.4171G>C (p.Ala1391Pro) c.94-46603G>C (n.94-46603G>C) c.94-47092G>C (n.94-47092G>C) n.336-194739G>C c.4159G>C (p.Ala1387Pro) c.3814G>C (p.Ala1272Pro) c.160G>C (p.Ala54Pro) c.4054G>C (p.Ala1352Pro) | |
| X | g.32411802C>T | CA412666226 | DMD | c.4183G>A (p.Ala1395Thr) c.151G>A (p.Ala51Thr) c.4171G>A (p.Ala1391Thr) c.94-46603G>A (n.94-46603G>A) c.94-47092G>A (n.94-47092G>A) n.336-194739G>A c.4159G>A (p.Ala1387Thr) c.3814G>A (p.Ala1272Thr) c.160G>A (p.Ala54Thr) c.4054G>A (p.Ala1352Thr) | |
| X | g.32411803T>A | CA515717319 | DMD | c.4182A>T (p.Ala1394=) c.150A>T (p.Ala50=) c.4170A>T (p.Ala1390=) c.94-46604A>T (n.94-46604A>T) c.94-47093A>T (n.94-47093A>T) n.336-194740A>T c.4158A>T (p.Ala1386=) c.3813A>T (p.Ala1271=) c.159A>T (p.Ala53=) c.4053A>T (p.Ala1351=) | |
| X | g.32411803T>C | CA515717320 | DMD | c.4182A>G (p.Ala1394=) c.150A>G (p.Ala50=) c.4170A>G (p.Ala1390=) c.94-46604A>G (n.94-46604A>G) c.94-47093A>G (n.94-47093A>G) n.336-194740A>G c.4158A>G (p.Ala1386=) c.3813A>G (p.Ala1271=) c.159A>G (p.Ala53=) c.4053A>G (p.Ala1351=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.32411803T>G | CA515717321 | DMD | c.4182A>C (p.Ala1394=) c.150A>C (p.Ala50=) c.4170A>C (p.Ala1390=) c.94-46604A>C (n.94-46604A>C) c.94-47093A>C (n.94-47093A>C) n.336-194740A>C c.4158A>C (p.Ala1386=) c.3813A>C (p.Ala1271=) c.159A>C (p.Ala53=) c.4053A>C (p.Ala1351=) | |
| X | g.32411803T= | CA2422791693 | DMD | c.4182A= (p.Ala1394=) c.150A= (p.Ala50=) c.4170A= (p.Ala1390=) c.94-46604A= (n.94-46604A=) c.94-47093A= (n.94-47093A=) n.336-194740A= c.4158A= (p.Ala1386=) c.3813A= (p.Ala1271=) c.159A= (p.Ala53=) c.4053A= (p.Ala1351=) | |
| X | g.32411804G>A | CA412666232 | DMD | c.4181C>T (p.Ala1394Val) c.149C>T (p.Ala50Val) c.4169C>T (p.Ala1390Val) c.94-46605C>T (n.94-46605C>T) c.94-47094C>T (n.94-47094C>T) n.336-194741C>T c.4157C>T (p.Ala1386Val) c.3812C>T (p.Ala1271Val) c.158C>T (p.Ala53Val) c.4052C>T (p.Ala1351Val) | |
| X | g.32411804G>C | CA412666233 | DMD | c.4181C>G (p.Ala1394Gly) c.149C>G (p.Ala50Gly) c.4169C>G (p.Ala1390Gly) c.94-46605C>G (n.94-46605C>G) c.94-47094C>G (n.94-47094C>G) n.336-194741C>G c.4157C>G (p.Ala1386Gly) c.3812C>G (p.Ala1271Gly) c.158C>G (p.Ala53Gly) c.4052C>G (p.Ala1351Gly) | |
| X | g.32411804G>T | CA412666235 | DMD | c.4181C>A (p.Ala1394Glu) c.149C>A (p.Ala50Glu) c.4169C>A (p.Ala1390Glu) c.94-46605C>A (n.94-46605C>A) c.94-47094C>A (n.94-47094C>A) n.336-194741C>A c.4157C>A (p.Ala1386Glu) c.3812C>A (p.Ala1271Glu) c.158C>A (p.Ala53Glu) c.4052C>A (p.Ala1351Glu) | gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| X | g.32411805C>A | CA412666236 | DMD | c.4180G>T (p.Ala1394Ser) c.148G>T (p.Ala50Ser) c.4168G>T (p.Ala1390Ser) c.94-46606G>T (n.94-46606G>T) c.94-47095G>T (n.94-47095G>T) n.336-194742G>T c.4156G>T (p.Ala1386Ser) c.3811G>T (p.Ala1271Ser) c.157G>T (p.Ala53Ser) c.4051G>T (p.Ala1351Ser) | ClinVar |
| X | g.32411805C>G | CA412666237 | DMD | c.4180G>C (p.Ala1394Pro) c.148G>C (p.Ala50Pro) c.4168G>C (p.Ala1390Pro) c.94-46606G>C (n.94-46606G>C) c.94-47095G>C (n.94-47095G>C) n.336-194742G>C c.4156G>C (p.Ala1386Pro) c.3811G>C (p.Ala1271Pro) c.157G>C (p.Ala53Pro) c.4051G>C (p.Ala1351Pro) | |
| X | g.32411805C>T | CA412666238 | DMD | c.4180G>A (p.Ala1394Thr) c.148G>A (p.Ala50Thr) c.4168G>A (p.Ala1390Thr) c.94-46606G>A (n.94-46606G>A) c.94-47095G>A (n.94-47095G>A) n.336-194742G>A c.4156G>A (p.Ala1386Thr) c.3811G>A (p.Ala1271Thr) c.157G>A (p.Ala53Thr) c.4051G>A (p.Ala1351Thr) | |
| X | g.32411806del | CA2695232800 | DMD | c.4180del (p.Ala1394GlnfsTer24) c.148del (p.Ala50GlnfsTer24) c.4168del (p.Ala1390GlnfsTer24) c.94-46606del (n.94-46606del) c.94-47095del (n.94-47095del) n.336-194742del c.4156del (p.Ala1386GlnfsTer24) c.3811del (p.Ala1271GlnfsTer24) c.157del (p.Ala53GlnfsTer24) c.4051del (p.Ala1351GlnfsTer24) |