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.53563685G>T | CA2693814915 | HUWE1 | c.7102+61C>A (n.7102+61C>A) c.7105+61C>A (n.7105+61C>A) c.7078+61C>A (n.7078+61C>A) c.7354+61C>A (n.7354+61C>A) c.7351+61C>A (n.7351+61C>A) n.7789+61C>A c.7486+61C>A (n.7486+61C>A) c.7483+61C>A (n.7483+61C>A) c.7465+61C>A (n.7465+61C>A) c.7375+61C>A (n.7375+61C>A) c.7237+61C>A (n.7237+61C>A) | gnomAD v4 |
| X | g.53563687del | CA2693814914 | HUWE1 | c.7102+61del (n.7102+61del) c.7105+61del (n.7105+61del) c.7078+61del (n.7078+61del) c.7354+61del (n.7354+61del) c.7351+61del (n.7351+61del) n.7789+61del c.7486+61del (n.7486+61del) c.7483+61del (n.7483+61del) c.7465+61del (n.7465+61del) c.7375+61del (n.7375+61del) c.7237+61del (n.7237+61del) | gnomAD v4 |
| X | g.53563686G>T | CA2693814916 | HUWE1 | c.7102+60C>A (n.7102+60C>A) c.7105+60C>A (n.7105+60C>A) c.7078+60C>A (n.7078+60C>A) c.7354+60C>A (n.7354+60C>A) c.7351+60C>A (n.7351+60C>A) n.7789+60C>A c.7486+60C>A (n.7486+60C>A) c.7483+60C>A (n.7483+60C>A) c.7465+60C>A (n.7465+60C>A) c.7375+60C>A (n.7375+60C>A) c.7237+60C>A (n.7237+60C>A) | gnomAD v4 |
| X | g.53563688T>A | CA876288709 | HUWE1 | c.7102+58A>T (n.7102+58A>T) c.7105+58A>T (n.7105+58A>T) c.7078+58A>T (n.7078+58A>T) c.7354+58A>T (n.7354+58A>T) c.7351+58A>T (n.7351+58A>T) n.7789+58A>T c.7486+58A>T (n.7486+58A>T) c.7483+58A>T (n.7483+58A>T) c.7465+58A>T (n.7465+58A>T) c.7375+58A>T (n.7375+58A>T) c.7237+58A>T (n.7237+58A>T) | dbSNP |
| X | g.53563688T>C | CA2693814917 | HUWE1 | c.7102+58A>G (n.7102+58A>G) c.7105+58A>G (n.7105+58A>G) c.7078+58A>G (n.7078+58A>G) c.7354+58A>G (n.7354+58A>G) c.7351+58A>G (n.7351+58A>G) n.7789+58A>G c.7486+58A>G (n.7486+58A>G) c.7483+58A>G (n.7483+58A>G) c.7465+58A>G (n.7465+58A>G) c.7375+58A>G (n.7375+58A>G) c.7237+58A>G (n.7237+58A>G) | gnomAD v4 |
| X | g.53563688T= | CA2429879082 | HUWE1 | c.7102+58A= (n.7102+58A=) c.7105+58A= (n.7105+58A=) c.7078+58A= (n.7078+58A=) c.7354+58A= (n.7354+58A=) c.7351+58A= (n.7351+58A=) n.7789+58A= c.7486+58A= (n.7486+58A=) c.7483+58A= (n.7483+58A=) c.7465+58A= (n.7465+58A=) c.7375+58A= (n.7375+58A=) c.7237+58A= (n.7237+58A=) | |
| X | g.53563691_53563693dup | CA2579617507 | HUWE1 | c.7102+56_7102+58dup (n.7102+56_7102+58dup) c.7105+56_7105+58dup (n.7105+56_7105+58dup) c.7078+56_7078+58dup (n.7078+56_7078+58dup) c.7354+56_7354+58dup (n.7354+56_7354+58dup) c.7351+56_7351+58dup (n.7351+56_7351+58dup) n.7789+56_7789+58dup c.7486+56_7486+58dup (n.7486+56_7486+58dup) c.7483+56_7483+58dup (n.7483+56_7483+58dup) c.7465+56_7465+58dup (n.7465+56_7465+58dup) c.7375+56_7375+58dup (n.7375+56_7375+58dup) c.7237+56_7237+58dup (n.7237+56_7237+58dup) | |
| X | g.53563689C>T | CA2693814918 | HUWE1 | c.7102+57G>A (n.7102+57G>A) c.7105+57G>A (n.7105+57G>A) c.7078+57G>A (n.7078+57G>A) c.7354+57G>A (n.7354+57G>A) c.7351+57G>A (n.7351+57G>A) n.7789+57G>A c.7486+57G>A (n.7486+57G>A) c.7483+57G>A (n.7483+57G>A) c.7465+57G>A (n.7465+57G>A) c.7375+57G>A (n.7375+57G>A) c.7237+57G>A (n.7237+57G>A) | gnomAD v4 |
| X | g.53563692C>A | CA2693814919 | HUWE1 | c.7102+54G>T (n.7102+54G>T) c.7105+54G>T (n.7105+54G>T) c.7078+54G>T (n.7078+54G>T) c.7354+54G>T (n.7354+54G>T) c.7351+54G>T (n.7351+54G>T) n.7789+54G>T c.7486+54G>T (n.7486+54G>T) c.7483+54G>T (n.7483+54G>T) c.7465+54G>T (n.7465+54G>T) c.7375+54G>T (n.7375+54G>T) c.7237+54G>T (n.7237+54G>T) | gnomAD v4 |
| X | g.53563692_53563693insTCTT | CA2693814920 | HUWE1 | c.7102+53_7102+54insAAGA (n.7102+53_7102+54insAAGA) c.7105+53_7105+54insAAGA (n.7105+53_7105+54insAAGA) c.7078+53_7078+54insAAGA (n.7078+53_7078+54insAAGA) c.7354+53_7354+54insAAGA (n.7354+53_7354+54insAAGA) c.7351+53_7351+54insAAGA (n.7351+53_7351+54insAAGA) n.7789+53_7789+54insAAGA c.7486+53_7486+54insAAGA (n.7486+53_7486+54insAAGA) c.7483+53_7483+54insAAGA (n.7483+53_7483+54insAAGA) c.7465+53_7465+54insAAGA (n.7465+53_7465+54insAAGA) c.7375+53_7375+54insAAGA (n.7375+53_7375+54insAAGA) c.7237+53_7237+54insAAGA (n.7237+53_7237+54insAAGA) | gnomAD v4 |
| X | g.53563694C>A | CA2579617508 | HUWE1 | c.7102+52G>T (n.7102+52G>T) c.7105+52G>T (n.7105+52G>T) c.7078+52G>T (n.7078+52G>T) c.7354+52G>T (n.7354+52G>T) c.7351+52G>T (n.7351+52G>T) n.7789+52G>T c.7486+52G>T (n.7486+52G>T) c.7483+52G>T (n.7483+52G>T) c.7465+52G>T (n.7465+52G>T) c.7375+52G>T (n.7375+52G>T) c.7237+52G>T (n.7237+52G>T) | |
| X | g.53563695A= | CA2429879083 | HUWE1 | c.7102+51T= (n.7102+51T=) c.7105+51T= (n.7105+51T=) c.7078+51T= (n.7078+51T=) c.7354+51T= (n.7354+51T=) c.7351+51T= (n.7351+51T=) n.7789+51T= c.7486+51T= (n.7486+51T=) c.7483+51T= (n.7483+51T=) c.7465+51T= (n.7465+51T=) c.7375+51T= (n.7375+51T=) c.7237+51T= (n.7237+51T=) | |
| X | g.53563695A>C | CA1133190945 | HUWE1 | c.7102+51T>G (n.7102+51T>G) c.7105+51T>G (n.7105+51T>G) c.7078+51T>G (n.7078+51T>G) c.7354+51T>G (n.7354+51T>G) c.7351+51T>G (n.7351+51T>G) n.7789+51T>G c.7486+51T>G (n.7486+51T>G) c.7483+51T>G (n.7483+51T>G) c.7465+51T>G (n.7465+51T>G) c.7375+51T>G (n.7375+51T>G) c.7237+51T>G (n.7237+51T>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.53563697G>C | CA2693814921 | HUWE1 | c.7102+49C>G (n.7102+49C>G) c.7105+49C>G (n.7105+49C>G) c.7078+49C>G (n.7078+49C>G) c.7354+49C>G (n.7354+49C>G) c.7351+49C>G (n.7351+49C>G) n.7789+49C>G c.7486+49C>G (n.7486+49C>G) c.7483+49C>G (n.7483+49C>G) c.7465+49C>G (n.7465+49C>G) c.7375+49C>G (n.7375+49C>G) c.7237+49C>G (n.7237+49C>G) | gnomAD v4 |
| X | g.53563698A>G | CA2820960259 | HUWE1 | c.7102+48T>C (n.7102+48T>C) c.7105+48T>C (n.7105+48T>C) c.7078+48T>C (n.7078+48T>C) c.7354+48T>C (n.7354+48T>C) c.7351+48T>C (n.7351+48T>C) n.7789+48T>C c.7486+48T>C (n.7486+48T>C) c.7483+48T>C (n.7483+48T>C) c.7465+48T>C (n.7465+48T>C) c.7375+48T>C (n.7375+48T>C) c.7237+48T>C (n.7237+48T>C) | |
| X | g.53563699G>A | CA2693814922 | HUWE1 | c.7102+47C>T (n.7102+47C>T) c.7105+47C>T (n.7105+47C>T) c.7078+47C>T (n.7078+47C>T) c.7354+47C>T (n.7354+47C>T) c.7351+47C>T (n.7351+47C>T) n.7789+47C>T c.7486+47C>T (n.7486+47C>T) c.7483+47C>T (n.7483+47C>T) c.7465+47C>T (n.7465+47C>T) c.7375+47C>T (n.7375+47C>T) c.7237+47C>T (n.7237+47C>T) | gnomAD v4 |
| X | g.53563699G>C | CA2429879084 | HUWE1 | c.7102+47C>G (n.7102+47C>G) c.7105+47C>G (n.7105+47C>G) c.7078+47C>G (n.7078+47C>G) c.7354+47C>G (n.7354+47C>G) c.7351+47C>G (n.7351+47C>G) n.7789+47C>G c.7486+47C>G (n.7486+47C>G) c.7483+47C>G (n.7483+47C>G) c.7465+47C>G (n.7465+47C>G) c.7375+47C>G (n.7375+47C>G) c.7237+47C>G (n.7237+47C>G) | dbSNP |
| X | g.53563699G= | CA2429879085 | HUWE1 | c.7102+47C= (n.7102+47C=) c.7105+47C= (n.7105+47C=) c.7078+47C= (n.7078+47C=) c.7354+47C= (n.7354+47C=) c.7351+47C= (n.7351+47C=) n.7789+47C= c.7486+47C= (n.7486+47C=) c.7483+47C= (n.7483+47C=) c.7465+47C= (n.7465+47C=) c.7375+47C= (n.7375+47C=) c.7237+47C= (n.7237+47C=) | |
| X | g.53563700A>G | CA2579617509 | HUWE1 | c.7102+46T>C (n.7102+46T>C) c.7105+46T>C (n.7105+46T>C) c.7078+46T>C (n.7078+46T>C) c.7354+46T>C (n.7354+46T>C) c.7351+46T>C (n.7351+46T>C) n.7789+46T>C c.7486+46T>C (n.7486+46T>C) c.7483+46T>C (n.7483+46T>C) c.7465+46T>C (n.7465+46T>C) c.7375+46T>C (n.7375+46T>C) c.7237+46T>C (n.7237+46T>C) | |
| X | g.53563701G>A | CA641551698 | HUWE1 | c.7102+45C>T (n.7102+45C>T) c.7105+45C>T (n.7105+45C>T) c.7078+45C>T (n.7078+45C>T) c.7354+45C>T (n.7354+45C>T) c.7351+45C>T (n.7351+45C>T) n.7789+45C>T c.7486+45C>T (n.7486+45C>T) c.7483+45C>T (n.7483+45C>T) c.7465+45C>T (n.7465+45C>T) c.7375+45C>T (n.7375+45C>T) c.7237+45C>T (n.7237+45C>T) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.53563701G>C | CA2429879087 | HUWE1 | c.7102+45C>G (n.7102+45C>G) c.7105+45C>G (n.7105+45C>G) c.7078+45C>G (n.7078+45C>G) c.7354+45C>G (n.7354+45C>G) c.7351+45C>G (n.7351+45C>G) n.7789+45C>G c.7486+45C>G (n.7486+45C>G) c.7483+45C>G (n.7483+45C>G) c.7465+45C>G (n.7465+45C>G) c.7375+45C>G (n.7375+45C>G) c.7237+45C>G (n.7237+45C>G) | dbSNP gnomAD v4 |
| X | g.53563701G= | CA2429879086 | HUWE1 | c.7102+45C= (n.7102+45C=) c.7105+45C= (n.7105+45C=) c.7078+45C= (n.7078+45C=) c.7354+45C= (n.7354+45C=) c.7351+45C= (n.7351+45C=) n.7789+45C= c.7486+45C= (n.7486+45C=) c.7483+45C= (n.7483+45C=) c.7465+45C= (n.7465+45C=) c.7375+45C= (n.7375+45C=) c.7237+45C= (n.7237+45C=) | |
| X | g.53563703C>A | CA10421997 | HUWE1 | c.7102+43G>T (n.7102+43G>T) c.7105+43G>T (n.7105+43G>T) c.7078+43G>T (n.7078+43G>T) c.7354+43G>T (n.7354+43G>T) c.7351+43G>T (n.7351+43G>T) n.7789+43G>T c.7486+43G>T (n.7486+43G>T) c.7483+43G>T (n.7483+43G>T) c.7465+43G>T (n.7465+43G>T) c.7375+43G>T (n.7375+43G>T) c.7237+43G>T (n.7237+43G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.53563703C= | CA2429879088 | HUWE1 | c.7102+43G= (n.7102+43G=) c.7105+43G= (n.7105+43G=) c.7078+43G= (n.7078+43G=) c.7354+43G= (n.7354+43G=) c.7351+43G= (n.7351+43G=) n.7789+43G= c.7486+43G= (n.7486+43G=) c.7483+43G= (n.7483+43G=) c.7465+43G= (n.7465+43G=) c.7375+43G= (n.7375+43G=) c.7237+43G= (n.7237+43G=) | |
| X | g.53563703_53563704insCTC | CA2579617510 | HUWE1 | c.7102+43_7102+44insAGG (n.7102+43_7102+44insAGG) c.7105+43_7105+44insAGG (n.7105+43_7105+44insAGG) c.7078+43_7078+44insAGG (n.7078+43_7078+44insAGG) c.7354+43_7354+44insAGG (n.7354+43_7354+44insAGG) c.7351+43_7351+44insAGG (n.7351+43_7351+44insAGG) n.7789+43_7789+44insAGG c.7486+43_7486+44insAGG (n.7486+43_7486+44insAGG) c.7483+43_7483+44insAGG (n.7483+43_7483+44insAGG) c.7465+43_7465+44insAGG (n.7465+43_7465+44insAGG) c.7375+43_7375+44insAGG (n.7375+43_7375+44insAGG) c.7237+43_7237+44insAGG (n.7237+43_7237+44insAGG) | |
| X | g.53563705G>A | CA10421998 | HUWE1 | c.7102+41C>T (n.7102+41C>T) c.7105+41C>T (n.7105+41C>T) c.7078+41C>T (n.7078+41C>T) c.7354+41C>T (n.7354+41C>T) c.7351+41C>T (n.7351+41C>T) n.7789+41C>T c.7486+41C>T (n.7486+41C>T) c.7483+41C>T (n.7483+41C>T) c.7465+41C>T (n.7465+41C>T) c.7375+41C>T (n.7375+41C>T) c.7237+41C>T (n.7237+41C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.53563705G= | CA2429879089 | HUWE1 | c.7102+41C= (n.7102+41C=) c.7105+41C= (n.7105+41C=) c.7078+41C= (n.7078+41C=) c.7354+41C= (n.7354+41C=) c.7351+41C= (n.7351+41C=) n.7789+41C= c.7486+41C= (n.7486+41C=) c.7483+41C= (n.7483+41C=) c.7465+41C= (n.7465+41C=) c.7375+41C= (n.7375+41C=) c.7237+41C= (n.7237+41C=) | |
| X | g.53563706A>G | CA2693814923 | HUWE1 | c.7102+40T>C (n.7102+40T>C) c.7105+40T>C (n.7105+40T>C) c.7078+40T>C (n.7078+40T>C) c.7354+40T>C (n.7354+40T>C) c.7351+40T>C (n.7351+40T>C) n.7789+40T>C c.7486+40T>C (n.7486+40T>C) c.7483+40T>C (n.7483+40T>C) c.7465+40T>C (n.7465+40T>C) c.7375+40T>C (n.7375+40T>C) c.7237+40T>C (n.7237+40T>C) | gnomAD v4 |
| X | g.53563707G>T | CA2693814924 | HUWE1 | c.7102+39C>A (n.7102+39C>A) c.7105+39C>A (n.7105+39C>A) c.7078+39C>A (n.7078+39C>A) c.7354+39C>A (n.7354+39C>A) c.7351+39C>A (n.7351+39C>A) n.7789+39C>A c.7486+39C>A (n.7486+39C>A) c.7483+39C>A (n.7483+39C>A) c.7465+39C>A (n.7465+39C>A) c.7375+39C>A (n.7375+39C>A) c.7237+39C>A (n.7237+39C>A) | gnomAD v4 |
| X | g.53563708G>T | CA2693814925 | HUWE1 | c.7102+38C>A (n.7102+38C>A) c.7105+38C>A (n.7105+38C>A) c.7078+38C>A (n.7078+38C>A) c.7354+38C>A (n.7354+38C>A) c.7351+38C>A (n.7351+38C>A) n.7789+38C>A c.7486+38C>A (n.7486+38C>A) c.7483+38C>A (n.7483+38C>A) c.7465+38C>A (n.7465+38C>A) c.7375+38C>A (n.7375+38C>A) c.7237+38C>A (n.7237+38C>A) | gnomAD v4 |
| X | g.53563710A= | CA2429879091 | HUWE1 | c.7102+36T= (n.7102+36T=) c.7105+36T= (n.7105+36T=) c.7078+36T= (n.7078+36T=) c.7354+36T= (n.7354+36T=) c.7351+36T= (n.7351+36T=) n.7789+36T= c.7486+36T= (n.7486+36T=) c.7483+36T= (n.7483+36T=) c.7465+36T= (n.7465+36T=) c.7375+36T= (n.7375+36T=) c.7237+36T= (n.7237+36T=) | |
| X | g.53563710A>C | CA10421999 | HUWE1 | c.7102+36T>G (n.7102+36T>G) c.7105+36T>G (n.7105+36T>G) c.7078+36T>G (n.7078+36T>G) c.7354+36T>G (n.7354+36T>G) c.7351+36T>G (n.7351+36T>G) n.7789+36T>G c.7486+36T>G (n.7486+36T>G) c.7483+36T>G (n.7483+36T>G) c.7465+36T>G (n.7465+36T>G) c.7375+36T>G (n.7375+36T>G) c.7237+36T>G (n.7237+36T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.53563710_53563714delinsAAAGG | CA2429879090 | HUWE1 | c.7102+32_7102+36delinsCCTTT (n.7102+32_7102+36delinsCCTTT) c.7105+32_7105+36delinsCCTTT (n.7105+32_7105+36delinsCCTTT) c.7078+32_7078+36delinsCCTTT (n.7078+32_7078+36delinsCCTTT) c.7354+32_7354+36delinsCCTTT (n.7354+32_7354+36delinsCCTTT) c.7351+32_7351+36delinsCCTTT (n.7351+32_7351+36delinsCCTTT) n.7789+32_7789+36delinsCCTTT c.7486+32_7486+36delinsCCTTT (n.7486+32_7486+36delinsCCTTT) c.7483+32_7483+36delinsCCTTT (n.7483+32_7483+36delinsCCTTT) c.7465+32_7465+36delinsCCTTT (n.7465+32_7465+36delinsCCTTT) c.7375+32_7375+36delinsCCTTT (n.7375+32_7375+36delinsCCTTT) c.7237+32_7237+36delinsCCTTT (n.7237+32_7237+36delinsCCTTT) | |
| X | g.53563714_53563717del | CA10422000 | HUWE1 | c.7102+32_7102+35del (n.7102+32_7102+35del) c.7105+32_7105+35del (n.7105+32_7105+35del) c.7078+32_7078+35del (n.7078+32_7078+35del) c.7354+32_7354+35del (n.7354+32_7354+35del) c.7351+32_7351+35del (n.7351+32_7351+35del) n.7789+32_7789+35del c.7486+32_7486+35del (n.7486+32_7486+35del) c.7483+32_7483+35del (n.7483+32_7483+35del) c.7465+32_7465+35del (n.7465+32_7465+35del) c.7375+32_7375+35del (n.7375+32_7375+35del) c.7237+32_7237+35del (n.7237+32_7237+35del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.53563713G>T | CA2579617511 | HUWE1 | c.7102+33C>A (n.7102+33C>A) c.7105+33C>A (n.7105+33C>A) c.7078+33C>A (n.7078+33C>A) c.7354+33C>A (n.7354+33C>A) c.7351+33C>A (n.7351+33C>A) n.7789+33C>A c.7486+33C>A (n.7486+33C>A) c.7483+33C>A (n.7483+33C>A) c.7465+33C>A (n.7465+33C>A) c.7375+33C>A (n.7375+33C>A) c.7237+33C>A (n.7237+33C>A) | gnomAD v4 |
| X | g.53563714G>A | CA2429879093 | HUWE1 | c.7102+32C>T (n.7102+32C>T) c.7105+32C>T (n.7105+32C>T) c.7078+32C>T (n.7078+32C>T) c.7354+32C>T (n.7354+32C>T) c.7351+32C>T (n.7351+32C>T) n.7789+32C>T c.7486+32C>T (n.7486+32C>T) c.7483+32C>T (n.7483+32C>T) c.7465+32C>T (n.7465+32C>T) c.7375+32C>T (n.7375+32C>T) c.7237+32C>T (n.7237+32C>T) | dbSNP |
| X | g.53563714G= | CA2429879092 | HUWE1 | c.7102+32C= (n.7102+32C=) c.7105+32C= (n.7105+32C=) c.7078+32C= (n.7078+32C=) c.7354+32C= (n.7354+32C=) c.7351+32C= (n.7351+32C=) n.7789+32C= c.7486+32C= (n.7486+32C=) c.7483+32C= (n.7483+32C=) c.7465+32C= (n.7465+32C=) c.7375+32C= (n.7375+32C=) c.7237+32C= (n.7237+32C=) | |
| X | g.53563714G>T | CA2693814926 | HUWE1 | c.7102+32C>A (n.7102+32C>A) c.7105+32C>A (n.7105+32C>A) c.7078+32C>A (n.7078+32C>A) c.7354+32C>A (n.7354+32C>A) c.7351+32C>A (n.7351+32C>A) n.7789+32C>A c.7486+32C>A (n.7486+32C>A) c.7483+32C>A (n.7483+32C>A) c.7465+32C>A (n.7465+32C>A) c.7375+32C>A (n.7375+32C>A) c.7237+32C>A (n.7237+32C>A) | gnomAD v4 |
| X | g.53563714_53563715insTC | CA2579617512 | HUWE1 | c.7102+31_7102+32insGA (n.7102+31_7102+32insGA) c.7105+31_7105+32insGA (n.7105+31_7105+32insGA) c.7078+31_7078+32insGA (n.7078+31_7078+32insGA) c.7354+31_7354+32insGA (n.7354+31_7354+32insGA) c.7351+31_7351+32insGA (n.7351+31_7351+32insGA) n.7789+31_7789+32insGA c.7486+31_7486+32insGA (n.7486+31_7486+32insGA) c.7483+31_7483+32insGA (n.7483+31_7483+32insGA) c.7465+31_7465+32insGA (n.7465+31_7465+32insGA) c.7375+31_7375+32insGA (n.7375+31_7375+32insGA) c.7237+31_7237+32insGA (n.7237+31_7237+32insGA) | gnomAD v4 |
| X | g.53563717G>A | CA876288716 | HUWE1 | c.7102+29C>T (n.7102+29C>T) c.7105+29C>T (n.7105+29C>T) c.7078+29C>T (n.7078+29C>T) c.7354+29C>T (n.7354+29C>T) c.7351+29C>T (n.7351+29C>T) n.7789+29C>T c.7486+29C>T (n.7486+29C>T) c.7483+29C>T (n.7483+29C>T) c.7465+29C>T (n.7465+29C>T) c.7375+29C>T (n.7375+29C>T) c.7237+29C>T (n.7237+29C>T) | dbSNP gnomAD v4 |
| X | g.53563717G>C | CA641551700 | HUWE1 | c.7102+29C>G (n.7102+29C>G) c.7105+29C>G (n.7105+29C>G) c.7078+29C>G (n.7078+29C>G) c.7354+29C>G (n.7354+29C>G) c.7351+29C>G (n.7351+29C>G) n.7789+29C>G c.7486+29C>G (n.7486+29C>G) c.7483+29C>G (n.7483+29C>G) c.7465+29C>G (n.7465+29C>G) c.7375+29C>G (n.7375+29C>G) c.7237+29C>G (n.7237+29C>G) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.53563717G= | CA2429879094 | HUWE1 | c.7102+29C= (n.7102+29C=) c.7105+29C= (n.7105+29C=) c.7078+29C= (n.7078+29C=) c.7354+29C= (n.7354+29C=) c.7351+29C= (n.7351+29C=) n.7789+29C= c.7486+29C= (n.7486+29C=) c.7483+29C= (n.7483+29C=) c.7465+29C= (n.7465+29C=) c.7375+29C= (n.7375+29C=) c.7237+29C= (n.7237+29C=) | |
| X | g.53563718A>G | CA2501157433 | HUWE1 | c.7102+28T>C (n.7102+28T>C) c.7105+28T>C (n.7105+28T>C) c.7078+28T>C (n.7078+28T>C) c.7354+28T>C (n.7354+28T>C) c.7351+28T>C (n.7351+28T>C) n.7789+28T>C c.7486+28T>C (n.7486+28T>C) c.7483+28T>C (n.7483+28T>C) c.7465+28T>C (n.7465+28T>C) c.7375+28T>C (n.7375+28T>C) c.7237+28T>C (n.7237+28T>C) | |
| X | g.53563719G>A | CA2693814927 | HUWE1 | c.7102+27C>T (n.7102+27C>T) c.7105+27C>T (n.7105+27C>T) c.7078+27C>T (n.7078+27C>T) c.7354+27C>T (n.7354+27C>T) c.7351+27C>T (n.7351+27C>T) n.7789+27C>T c.7486+27C>T (n.7486+27C>T) c.7483+27C>T (n.7483+27C>T) c.7465+27C>T (n.7465+27C>T) c.7375+27C>T (n.7375+27C>T) c.7237+27C>T (n.7237+27C>T) | gnomAD v4 |
| X | g.53563724T>C | CA1133190947 | HUWE1 | c.7102+22A>G (n.7102+22A>G) c.7105+22A>G (n.7105+22A>G) c.7078+22A>G (n.7078+22A>G) c.7354+22A>G (n.7354+22A>G) c.7351+22A>G (n.7351+22A>G) n.7789+22A>G c.7486+22A>G (n.7486+22A>G) c.7483+22A>G (n.7483+22A>G) c.7465+22A>G (n.7465+22A>G) c.7375+22A>G (n.7375+22A>G) c.7237+22A>G (n.7237+22A>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.53563724T= | CA2429879095 | HUWE1 | c.7102+22A= (n.7102+22A=) c.7105+22A= (n.7105+22A=) c.7078+22A= (n.7078+22A=) c.7354+22A= (n.7354+22A=) c.7351+22A= (n.7351+22A=) n.7789+22A= c.7486+22A= (n.7486+22A=) c.7483+22A= (n.7483+22A=) c.7465+22A= (n.7465+22A=) c.7375+22A= (n.7375+22A=) c.7237+22A= (n.7237+22A=) | |
| X | g.53563728C= | CA2429879096 | HUWE1 | c.7102+18G= (n.7102+18G=) c.7105+18G= (n.7105+18G=) c.7078+18G= (n.7078+18G=) c.7354+18G= (n.7354+18G=) c.7351+18G= (n.7351+18G=) n.7789+18G= c.7486+18G= (n.7486+18G=) c.7483+18G= (n.7483+18G=) c.7465+18G= (n.7465+18G=) c.7375+18G= (n.7375+18G=) c.7237+18G= (n.7237+18G=) | |
| X | g.53563728C>T | CA641551701 | HUWE1 | c.7102+18G>A (n.7102+18G>A) c.7105+18G>A (n.7105+18G>A) c.7078+18G>A (n.7078+18G>A) c.7354+18G>A (n.7354+18G>A) c.7351+18G>A (n.7351+18G>A) n.7789+18G>A c.7486+18G>A (n.7486+18G>A) c.7483+18G>A (n.7483+18G>A) c.7465+18G>A (n.7465+18G>A) c.7375+18G>A (n.7375+18G>A) c.7237+18G>A (n.7237+18G>A) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.53563733C>A | CA2738532557 | HUWE1 | c.7102+13G>T (n.7102+13G>T) c.7105+13G>T (n.7105+13G>T) c.7078+13G>T (n.7078+13G>T) c.7354+13G>T (n.7354+13G>T) c.7351+13G>T (n.7351+13G>T) n.7789+13G>T c.7486+13G>T (n.7486+13G>T) c.7483+13G>T (n.7483+13G>T) c.7465+13G>T (n.7465+13G>T) c.7375+13G>T (n.7375+13G>T) c.7237+13G>T (n.7237+13G>T) | dbSNP |
| X | g.53563733C= | CA2429879097 | HUWE1 | c.7102+13G= (n.7102+13G=) c.7105+13G= (n.7105+13G=) c.7078+13G= (n.7078+13G=) c.7354+13G= (n.7354+13G=) c.7351+13G= (n.7351+13G=) n.7789+13G= c.7486+13G= (n.7486+13G=) c.7483+13G= (n.7483+13G=) c.7465+13G= (n.7465+13G=) c.7375+13G= (n.7375+13G=) c.7237+13G= (n.7237+13G=) | |
| X | g.53563733C>G | CA10422001 | HUWE1 | c.7102+13G>C (n.7102+13G>C) c.7105+13G>C (n.7105+13G>C) c.7078+13G>C (n.7078+13G>C) c.7354+13G>C (n.7354+13G>C) c.7351+13G>C (n.7351+13G>C) n.7789+13G>C c.7486+13G>C (n.7486+13G>C) c.7483+13G>C (n.7483+13G>C) c.7465+13G>C (n.7465+13G>C) c.7375+13G>C (n.7375+13G>C) c.7237+13G>C (n.7237+13G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.53563733C>T | CA658038020 | HUWE1 | c.7102+13G>A (n.7102+13G>A) c.7105+13G>A (n.7105+13G>A) c.7078+13G>A (n.7078+13G>A) c.7354+13G>A (n.7354+13G>A) c.7351+13G>A (n.7351+13G>A) n.7789+13G>A c.7486+13G>A (n.7486+13G>A) c.7483+13G>A (n.7483+13G>A) c.7465+13G>A (n.7465+13G>A) c.7375+13G>A (n.7375+13G>A) c.7237+13G>A (n.7237+13G>A) | COSMIC |
| X | g.53563735G>T | CA2693814929 | HUWE1 | c.7102+11C>A (n.7102+11C>A) c.7105+11C>A (n.7105+11C>A) c.7078+11C>A (n.7078+11C>A) c.7354+11C>A (n.7354+11C>A) c.7351+11C>A (n.7351+11C>A) n.7789+11C>A c.7486+11C>A (n.7486+11C>A) c.7483+11C>A (n.7483+11C>A) c.7465+11C>A (n.7465+11C>A) c.7375+11C>A (n.7375+11C>A) c.7237+11C>A (n.7237+11C>A) | gnomAD v4 |
| X | g.53563737_53563738dup | CA2693814928 | HUWE1 | c.7102+10_7102+11dup (n.7102+10_7102+11dup) c.7105+10_7105+11dup (n.7105+10_7105+11dup) c.7078+10_7078+11dup (n.7078+10_7078+11dup) c.7354+10_7354+11dup (n.7354+10_7354+11dup) c.7351+10_7351+11dup (n.7351+10_7351+11dup) n.7789+10_7789+11dup c.7486+10_7486+11dup (n.7486+10_7486+11dup) c.7483+10_7483+11dup (n.7483+10_7483+11dup) c.7465+10_7465+11dup (n.7465+10_7465+11dup) c.7375+10_7375+11dup (n.7375+10_7375+11dup) c.7237+10_7237+11dup (n.7237+10_7237+11dup) | gnomAD v4 |
| X | g.53563736G>C | CA10422002 | HUWE1 | c.7102+10C>G (n.7102+10C>G) c.7105+10C>G (n.7105+10C>G) c.7078+10C>G (n.7078+10C>G) c.7354+10C>G (n.7354+10C>G) c.7351+10C>G (n.7351+10C>G) n.7789+10C>G c.7486+10C>G (n.7486+10C>G) c.7483+10C>G (n.7483+10C>G) c.7465+10C>G (n.7465+10C>G) c.7375+10C>G (n.7375+10C>G) c.7237+10C>G (n.7237+10C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.53563736G= | CA2429879098 | HUWE1 | c.7102+10C= (n.7102+10C=) c.7105+10C= (n.7105+10C=) c.7078+10C= (n.7078+10C=) c.7354+10C= (n.7354+10C=) c.7351+10C= (n.7351+10C=) n.7789+10C= c.7486+10C= (n.7486+10C=) c.7483+10C= (n.7483+10C=) c.7465+10C= (n.7465+10C=) c.7375+10C= (n.7375+10C=) c.7237+10C= (n.7237+10C=) | |
| X | g.53563737G>A | CA2579617513 | HUWE1 | c.7102+9C>T (n.7102+9C>T) c.7105+9C>T (n.7105+9C>T) c.7078+9C>T (n.7078+9C>T) c.7354+9C>T (n.7354+9C>T) c.7351+9C>T (n.7351+9C>T) n.7789+9C>T c.7486+9C>T (n.7486+9C>T) c.7483+9C>T (n.7483+9C>T) c.7465+9C>T (n.7465+9C>T) c.7375+9C>T (n.7375+9C>T) c.7237+9C>T (n.7237+9C>T) | |
| X | g.53563737G>T | CA2693814930 | HUWE1 | c.7102+9C>A (n.7102+9C>A) c.7105+9C>A (n.7105+9C>A) c.7078+9C>A (n.7078+9C>A) c.7354+9C>A (n.7354+9C>A) c.7351+9C>A (n.7351+9C>A) n.7789+9C>A c.7486+9C>A (n.7486+9C>A) c.7483+9C>A (n.7483+9C>A) c.7465+9C>A (n.7465+9C>A) c.7375+9C>A (n.7375+9C>A) c.7237+9C>A (n.7237+9C>A) | gnomAD v4 |
| X | g.53563744A>C | CA413160675 | HUWE1 | c.7102+2T>G (n.7102+2T>G) c.7105+2T>G (n.7105+2T>G) c.7078+2T>G (n.7078+2T>G) c.7354+2T>G (n.7354+2T>G) c.7351+2T>G (n.7351+2T>G) n.7789+2T>G c.7486+2T>G (n.7486+2T>G) c.7483+2T>G (n.7483+2T>G) c.7465+2T>G (n.7465+2T>G) c.7375+2T>G (n.7375+2T>G) c.7237+2T>G (n.7237+2T>G) | |
| X | g.53563744A>G | CA413160676 | HUWE1 | c.7102+2T>C (n.7102+2T>C) c.7105+2T>C (n.7105+2T>C) c.7078+2T>C (n.7078+2T>C) c.7354+2T>C (n.7354+2T>C) c.7351+2T>C (n.7351+2T>C) n.7789+2T>C c.7486+2T>C (n.7486+2T>C) c.7483+2T>C (n.7483+2T>C) c.7465+2T>C (n.7465+2T>C) c.7375+2T>C (n.7375+2T>C) c.7237+2T>C (n.7237+2T>C) | COSMIC COSMIC |
| X | g.53563744A>T | CA413160677 | HUWE1 | c.7102+2T>A (n.7102+2T>A) c.7105+2T>A (n.7105+2T>A) c.7078+2T>A (n.7078+2T>A) c.7354+2T>A (n.7354+2T>A) c.7351+2T>A (n.7351+2T>A) n.7789+2T>A c.7486+2T>A (n.7486+2T>A) c.7483+2T>A (n.7483+2T>A) c.7465+2T>A (n.7465+2T>A) c.7375+2T>A (n.7375+2T>A) c.7237+2T>A (n.7237+2T>A) | |
| X | g.53563745C>A | CA413160678 | HUWE1 | c.7102+1G>T (n.7102+1G>T) c.7105+1G>T (n.7105+1G>T) c.7078+1G>T (n.7078+1G>T) c.7354+1G>T (n.7354+1G>T) c.7351+1G>T (n.7351+1G>T) n.7789+1G>T c.7486+1G>T (n.7486+1G>T) c.7483+1G>T (n.7483+1G>T) c.7465+1G>T (n.7465+1G>T) c.7375+1G>T (n.7375+1G>T) c.7237+1G>T (n.7237+1G>T) | COSMIC COSMIC |
| X | g.53563745C>G | CA413160680 | HUWE1 | c.7102+1G>C (n.7102+1G>C) c.7105+1G>C (n.7105+1G>C) c.7078+1G>C (n.7078+1G>C) c.7354+1G>C (n.7354+1G>C) c.7351+1G>C (n.7351+1G>C) n.7789+1G>C c.7486+1G>C (n.7486+1G>C) c.7483+1G>C (n.7483+1G>C) c.7465+1G>C (n.7465+1G>C) c.7375+1G>C (n.7375+1G>C) c.7237+1G>C (n.7237+1G>C) | |
| X | g.53563745C>T | CA413160679 | HUWE1 | c.7102+1G>A (n.7102+1G>A) c.7105+1G>A (n.7105+1G>A) c.7078+1G>A (n.7078+1G>A) c.7354+1G>A (n.7354+1G>A) c.7351+1G>A (n.7351+1G>A) n.7789+1G>A c.7486+1G>A (n.7486+1G>A) c.7483+1G>A (n.7483+1G>A) c.7465+1G>A (n.7465+1G>A) c.7375+1G>A (n.7375+1G>A) c.7237+1G>A (n.7237+1G>A) | |
| X | g.53563746C>A | CA413160681 | HUWE1 | c.7102G>T (p.Val2368Leu) c.7105G>T (p.Val2369Leu) c.7078G>T (p.Val2360Leu) c.7354G>T (p.Val2452Leu) c.7351G>T (p.Val2451Leu) c.7354G>T (p.Asp2452Tyr) c.7354G>T (p.Ala2452Ser) n.7789G>T c.7486G>T (p.Val2496Leu) c.7483G>T (p.Val2495Leu) c.7465G>T (p.Val2489Leu) c.7486G>T (p.Asp2496Tyr) c.7375G>T (p.Val2459Leu) c.7237G>T (p.Val2413Leu) c.7486G>T (p.Ala2496Ser) | |
| X | g.53563746C>G | CA413160686 | HUWE1 | c.7102G>C (p.Val2368Leu) c.7105G>C (p.Val2369Leu) c.7078G>C (p.Val2360Leu) c.7354G>C (p.Val2452Leu) c.7351G>C (p.Val2451Leu) c.7354G>C (p.Asp2452His) c.7354G>C (p.Ala2452Pro) n.7789G>C c.7486G>C (p.Val2496Leu) c.7483G>C (p.Val2495Leu) c.7465G>C (p.Val2489Leu) c.7486G>C (p.Asp2496His) c.7375G>C (p.Val2459Leu) c.7237G>C (p.Val2413Leu) c.7486G>C (p.Ala2496Pro) | |
| X | g.53563746C>T | CA413160683 | HUWE1 | c.7102G>A (p.Val2368Met) c.7105G>A (p.Val2369Met) c.7078G>A (p.Val2360Met) c.7354G>A (p.Val2452Met) c.7351G>A (p.Val2451Met) c.7354G>A (p.Asp2452Asn) c.7354G>A (p.Ala2452Thr) n.7789G>A c.7486G>A (p.Val2496Met) c.7483G>A (p.Val2495Met) c.7465G>A (p.Val2489Met) c.7486G>A (p.Asp2496Asn) c.7375G>A (p.Val2459Met) c.7237G>A (p.Val2413Met) c.7486G>A (p.Ala2496Thr) | |
| X | g.53563747T>A | CA516433249 | HUWE1 | c.7101A>T (p.Ile2367=) c.7104A>T (p.Ile2368=) c.7077A>T (p.Ile2359=) c.7353A>T (p.Ile2451=) c.7350A>T (p.Ile2450=) n.7788A>T c.7485A>T (p.Ile2495=) c.7482A>T (p.Ile2494=) c.7464A>T (p.Ile2488=) c.7374A>T (p.Ile2458=) c.7236A>T (p.Ile2412=) | |
| X | g.53563747T>C | CA413160689 | HUWE1 | c.7101A>G (p.Ile2367Met) c.7104A>G (p.Ile2368Met) c.7077A>G (p.Ile2359Met) c.7353A>G (p.Ile2451Met) c.7350A>G (p.Ile2450Met) n.7788A>G c.7485A>G (p.Ile2495Met) c.7482A>G (p.Ile2494Met) c.7464A>G (p.Ile2488Met) c.7374A>G (p.Ile2458Met) c.7236A>G (p.Ile2412Met) | |
| X | g.53563747T>G | CA516433250 | HUWE1 | c.7101A>C (p.Ile2367=) c.7104A>C (p.Ile2368=) c.7077A>C (p.Ile2359=) c.7353A>C (p.Ile2451=) c.7350A>C (p.Ile2450=) n.7788A>C c.7485A>C (p.Ile2495=) c.7482A>C (p.Ile2494=) c.7464A>C (p.Ile2488=) c.7374A>C (p.Ile2458=) c.7236A>C (p.Ile2412=) | |
| X | g.53563748A= | CA2429879099 | HUWE1 | c.7100T= (p.Ile2367=) c.7103T= (p.Ile2368=) c.7076T= (p.Ile2359=) c.7352T= (p.Ile2451=) c.7349T= (p.Ile2450=) n.7787T= c.7484T= (p.Ile2495=) c.7481T= (p.Ile2494=) c.7463T= (p.Ile2488=) c.7373T= (p.Ile2458=) c.7235T= (p.Ile2412=) | |
| X | g.53563748A>C | CA413160691 | HUWE1 | c.7100T>G (p.Ile2367Arg) c.7103T>G (p.Ile2368Arg) c.7076T>G (p.Ile2359Arg) c.7352T>G (p.Ile2451Arg) c.7349T>G (p.Ile2450Arg) n.7787T>G c.7484T>G (p.Ile2495Arg) c.7481T>G (p.Ile2494Arg) c.7463T>G (p.Ile2488Arg) c.7373T>G (p.Ile2458Arg) c.7235T>G (p.Ile2412Arg) | |
| X | g.53563748A>G | CA413160694 | HUWE1 | c.7100T>C (p.Ile2367Thr) c.7103T>C (p.Ile2368Thr) c.7076T>C (p.Ile2359Thr) c.7352T>C (p.Ile2451Thr) c.7349T>C (p.Ile2450Thr) n.7787T>C c.7484T>C (p.Ile2495Thr) c.7481T>C (p.Ile2494Thr) c.7463T>C (p.Ile2488Thr) c.7373T>C (p.Ile2458Thr) c.7235T>C (p.Ile2412Thr) | dbSNP gnomAD v4 |
| X | g.53563748A>T | CA413160696 | HUWE1 | c.7100T>A (p.Ile2367Lys) c.7103T>A (p.Ile2368Lys) c.7076T>A (p.Ile2359Lys) c.7352T>A (p.Ile2451Lys) c.7349T>A (p.Ile2450Lys) n.7787T>A c.7484T>A (p.Ile2495Lys) c.7481T>A (p.Ile2494Lys) c.7463T>A (p.Ile2488Lys) c.7373T>A (p.Ile2458Lys) c.7235T>A (p.Ile2412Lys) | |
| X | g.53563749T>A | CA413160698 | HUWE1 | c.7099A>T (p.Ile2367Leu) c.7102A>T (p.Ile2368Leu) c.7075A>T (p.Ile2359Leu) c.7351A>T (p.Ile2451Leu) c.7348A>T (p.Ile2450Leu) n.7786A>T c.7483A>T (p.Ile2495Leu) c.7480A>T (p.Ile2494Leu) c.7462A>T (p.Ile2488Leu) c.7372A>T (p.Ile2458Leu) c.7234A>T (p.Ile2412Leu) | |
| X | g.53563749T>C | CA413160699 | HUWE1 | c.7099A>G (p.Ile2367Val) c.7102A>G (p.Ile2368Val) c.7075A>G (p.Ile2359Val) c.7351A>G (p.Ile2451Val) c.7348A>G (p.Ile2450Val) n.7786A>G c.7483A>G (p.Ile2495Val) c.7480A>G (p.Ile2494Val) c.7462A>G (p.Ile2488Val) c.7372A>G (p.Ile2458Val) c.7234A>G (p.Ile2412Val) | |
| X | g.53563749T>G | CA413160701 | HUWE1 | c.7099A>C (p.Ile2367Leu) c.7102A>C (p.Ile2368Leu) c.7075A>C (p.Ile2359Leu) c.7351A>C (p.Ile2451Leu) c.7348A>C (p.Ile2450Leu) n.7786A>C c.7483A>C (p.Ile2495Leu) c.7480A>C (p.Ile2494Leu) c.7462A>C (p.Ile2488Leu) c.7372A>C (p.Ile2458Leu) c.7234A>C (p.Ile2412Leu) | |
| X | g.53563750A>C | CA413160702 | HUWE1 | c.7098T>G (p.Ile2366Met) c.7101T>G (p.Ile2367Met) c.7074T>G (p.Ile2358Met) c.7350T>G (p.Ile2450Met) c.7347T>G (p.Ile2449Met) n.7785T>G c.7482T>G (p.Ile2494Met) c.7479T>G (p.Ile2493Met) c.7461T>G (p.Ile2487Met) c.7371T>G (p.Ile2457Met) c.7233T>G (p.Ile2411Met) | |
| X | g.53563750A>G | CA516433252 | HUWE1 | c.7098T>C (p.Ile2366=) c.7101T>C (p.Ile2367=) c.7074T>C (p.Ile2358=) c.7350T>C (p.Ile2450=) c.7347T>C (p.Ile2449=) n.7785T>C c.7482T>C (p.Ile2494=) c.7479T>C (p.Ile2493=) c.7461T>C (p.Ile2487=) c.7371T>C (p.Ile2457=) c.7233T>C (p.Ile2411=) | |
| X | g.53563750A>T | CA516433251 | HUWE1 | c.7098T>A (p.Ile2366=) c.7101T>A (p.Ile2367=) c.7074T>A (p.Ile2358=) c.7350T>A (p.Ile2450=) c.7347T>A (p.Ile2449=) n.7785T>A c.7482T>A (p.Ile2494=) c.7479T>A (p.Ile2493=) c.7461T>A (p.Ile2487=) c.7371T>A (p.Ile2457=) c.7233T>A (p.Ile2411=) | |
| X | g.53563751A>C | CA413160704 | HUWE1 | c.7097T>G (p.Ile2366Ser) c.7100T>G (p.Ile2367Ser) c.7073T>G (p.Ile2358Ser) c.7349T>G (p.Ile2450Ser) c.7346T>G (p.Ile2449Ser) n.7784T>G c.7481T>G (p.Ile2494Ser) c.7478T>G (p.Ile2493Ser) c.7460T>G (p.Ile2487Ser) c.7370T>G (p.Ile2457Ser) c.7232T>G (p.Ile2411Ser) | gnomAD v4 |
| X | g.53563751A>G | CA413160708 | HUWE1 | c.7097T>C (p.Ile2366Thr) c.7100T>C (p.Ile2367Thr) c.7073T>C (p.Ile2358Thr) c.7349T>C (p.Ile2450Thr) c.7346T>C (p.Ile2449Thr) n.7784T>C c.7481T>C (p.Ile2494Thr) c.7478T>C (p.Ile2493Thr) c.7460T>C (p.Ile2487Thr) c.7370T>C (p.Ile2457Thr) c.7232T>C (p.Ile2411Thr) | |
| X | g.53563751A>T | CA413160711 | HUWE1 | c.7097T>A (p.Ile2366Asn) c.7100T>A (p.Ile2367Asn) c.7073T>A (p.Ile2358Asn) c.7349T>A (p.Ile2450Asn) c.7346T>A (p.Ile2449Asn) n.7784T>A c.7481T>A (p.Ile2494Asn) c.7478T>A (p.Ile2493Asn) c.7460T>A (p.Ile2487Asn) c.7370T>A (p.Ile2457Asn) c.7232T>A (p.Ile2411Asn) | |
| X | g.53563752T>A | CA413160718 | HUWE1 | c.7096A>T (p.Ile2366Phe) c.7099A>T (p.Ile2367Phe) c.7072A>T (p.Ile2358Phe) c.7348A>T (p.Ile2450Phe) c.7345A>T (p.Ile2449Phe) n.7783A>T c.7480A>T (p.Ile2494Phe) c.7477A>T (p.Ile2493Phe) c.7459A>T (p.Ile2487Phe) c.7369A>T (p.Ile2457Phe) c.7231A>T (p.Ile2411Phe) | |
| X | g.53563752T>C | CA413160716 | HUWE1 | c.7096A>G (p.Ile2366Val) c.7099A>G (p.Ile2367Val) c.7072A>G (p.Ile2358Val) c.7348A>G (p.Ile2450Val) c.7345A>G (p.Ile2449Val) n.7783A>G c.7480A>G (p.Ile2494Val) c.7477A>G (p.Ile2493Val) c.7459A>G (p.Ile2487Val) c.7369A>G (p.Ile2457Val) c.7231A>G (p.Ile2411Val) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.53563752T>G | CA413160714 | HUWE1 | c.7096A>C (p.Ile2366Leu) c.7099A>C (p.Ile2367Leu) c.7072A>C (p.Ile2358Leu) c.7348A>C (p.Ile2450Leu) c.7345A>C (p.Ile2449Leu) n.7783A>C c.7480A>C (p.Ile2494Leu) c.7477A>C (p.Ile2493Leu) c.7459A>C (p.Ile2487Leu) c.7369A>C (p.Ile2457Leu) c.7231A>C (p.Ile2411Leu) | |
| X | g.53563752T= | CA2429879100 | HUWE1 | c.7096A= (p.Ile2366=) c.7099A= (p.Ile2367=) c.7072A= (p.Ile2358=) c.7348A= (p.Ile2450=) c.7345A= (p.Ile2449=) n.7783A= c.7480A= (p.Ile2494=) c.7477A= (p.Ile2493=) c.7459A= (p.Ile2487=) c.7369A= (p.Ile2457=) c.7231A= (p.Ile2411=) | |
| X | g.53563753T>A | CA516433253 | HUWE1 | c.7095A>T (p.Thr2365=) c.7098A>T (p.Thr2366=) c.7071A>T (p.Thr2357=) c.7347A>T (p.Thr2449=) c.7344A>T (p.Thr2448=) n.7782A>T c.7479A>T (p.Thr2493=) c.7476A>T (p.Thr2492=) c.7458A>T (p.Thr2486=) c.7368A>T (p.Thr2456=) c.7230A>T (p.Thr2410=) | |
| X | g.53563753T>C | CA516433254 | HUWE1 | c.7095A>G (p.Thr2365=) c.7098A>G (p.Thr2366=) c.7071A>G (p.Thr2357=) c.7347A>G (p.Thr2449=) c.7344A>G (p.Thr2448=) n.7782A>G c.7479A>G (p.Thr2493=) c.7476A>G (p.Thr2492=) c.7458A>G (p.Thr2486=) c.7368A>G (p.Thr2456=) c.7230A>G (p.Thr2410=) | |
| X | g.53563753T>G | CA516433255 | HUWE1 | c.7095A>C (p.Thr2365=) c.7098A>C (p.Thr2366=) c.7071A>C (p.Thr2357=) c.7347A>C (p.Thr2449=) c.7344A>C (p.Thr2448=) n.7782A>C c.7479A>C (p.Thr2493=) c.7476A>C (p.Thr2492=) c.7458A>C (p.Thr2486=) c.7368A>C (p.Thr2456=) c.7230A>C (p.Thr2410=) | |
| X | g.53563754G>A | CA413160723 | HUWE1 | c.7094C>T (p.Thr2365Ile) c.7097C>T (p.Thr2366Ile) c.7070C>T (p.Thr2357Ile) c.7346C>T (p.Thr2449Ile) c.7343C>T (p.Thr2448Ile) n.7781C>T c.7478C>T (p.Thr2493Ile) c.7475C>T (p.Thr2492Ile) c.7457C>T (p.Thr2486Ile) c.7367C>T (p.Thr2456Ile) c.7229C>T (p.Thr2410Ile) | |
| X | g.53563754G>C | CA413160726 | HUWE1 | c.7094C>G (p.Thr2365Arg) c.7097C>G (p.Thr2366Arg) c.7070C>G (p.Thr2357Arg) c.7346C>G (p.Thr2449Arg) c.7343C>G (p.Thr2448Arg) n.7781C>G c.7478C>G (p.Thr2493Arg) c.7475C>G (p.Thr2492Arg) c.7457C>G (p.Thr2486Arg) c.7367C>G (p.Thr2456Arg) c.7229C>G (p.Thr2410Arg) | |
| X | g.53563754G>T | CA413160732 | HUWE1 | c.7094C>A (p.Thr2365Lys) c.7097C>A (p.Thr2366Lys) c.7070C>A (p.Thr2357Lys) c.7346C>A (p.Thr2449Lys) c.7343C>A (p.Thr2448Lys) n.7781C>A c.7478C>A (p.Thr2493Lys) c.7475C>A (p.Thr2492Lys) c.7457C>A (p.Thr2486Lys) c.7367C>A (p.Thr2456Lys) c.7229C>A (p.Thr2410Lys) | |
| X | g.53563755T>A | CA413160733 | HUWE1 | c.7093A>T (p.Thr2365Ser) c.7096A>T (p.Thr2366Ser) c.7069A>T (p.Thr2357Ser) c.7345A>T (p.Thr2449Ser) c.7342A>T (p.Thr2448Ser) n.7780A>T c.7477A>T (p.Thr2493Ser) c.7474A>T (p.Thr2492Ser) c.7456A>T (p.Thr2486Ser) c.7366A>T (p.Thr2456Ser) c.7228A>T (p.Thr2410Ser) | |
| X | g.53563755T>C | CA413160735 | HUWE1 | c.7093A>G (p.Thr2365Ala) c.7096A>G (p.Thr2366Ala) c.7069A>G (p.Thr2357Ala) c.7345A>G (p.Thr2449Ala) c.7342A>G (p.Thr2448Ala) n.7780A>G c.7477A>G (p.Thr2493Ala) c.7474A>G (p.Thr2492Ala) c.7456A>G (p.Thr2486Ala) c.7366A>G (p.Thr2456Ala) c.7228A>G (p.Thr2410Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.53563755T>G | CA413160739 | HUWE1 | c.7093A>C (p.Thr2365Pro) c.7096A>C (p.Thr2366Pro) c.7069A>C (p.Thr2357Pro) c.7345A>C (p.Thr2449Pro) c.7342A>C (p.Thr2448Pro) n.7780A>C c.7477A>C (p.Thr2493Pro) c.7474A>C (p.Thr2492Pro) c.7456A>C (p.Thr2486Pro) c.7366A>C (p.Thr2456Pro) c.7228A>C (p.Thr2410Pro) | |
| X | g.53563755T= | CA2429879101 | HUWE1 | c.7093A= (p.Thr2365=) c.7096A= (p.Thr2366=) c.7069A= (p.Thr2357=) c.7345A= (p.Thr2449=) c.7342A= (p.Thr2448=) n.7780A= c.7477A= (p.Thr2493=) c.7474A= (p.Thr2492=) c.7456A= (p.Thr2486=) c.7366A= (p.Thr2456=) c.7228A= (p.Thr2410=) | |
| X | g.53563756A>C | CA413160742 | HUWE1 | c.7092T>G (p.Ser2364Arg) c.7095T>G (p.Ser2365Arg) c.7068T>G (p.Ser2356Arg) c.7344T>G (p.Ser2448Arg) c.7341T>G (p.Ser2447Arg) n.7779T>G c.7476T>G (p.Ser2492Arg) c.7473T>G (p.Ser2491Arg) c.7455T>G (p.Ser2485Arg) c.7365T>G (p.Ser2455Arg) c.7227T>G (p.Ser2409Arg) | |
| X | g.53563756A>G | CA516433257 | HUWE1 | c.7092T>C (p.Ser2364=) c.7095T>C (p.Ser2365=) c.7068T>C (p.Ser2356=) c.7344T>C (p.Ser2448=) c.7341T>C (p.Ser2447=) n.7779T>C c.7476T>C (p.Ser2492=) c.7473T>C (p.Ser2491=) c.7455T>C (p.Ser2485=) c.7365T>C (p.Ser2455=) c.7227T>C (p.Ser2409=) | |
| X | g.53563756A>T | CA413160745 | HUWE1 | c.7092T>A (p.Ser2364Arg) c.7095T>A (p.Ser2365Arg) c.7068T>A (p.Ser2356Arg) c.7344T>A (p.Ser2448Arg) c.7341T>A (p.Ser2447Arg) n.7779T>A c.7476T>A (p.Ser2492Arg) c.7473T>A (p.Ser2491Arg) c.7455T>A (p.Ser2485Arg) c.7365T>A (p.Ser2455Arg) c.7227T>A (p.Ser2409Arg) | |
| X | g.53563757C>A | CA413160749 | HUWE1 | c.7091G>T (p.Ser2364Ile) c.7094G>T (p.Ser2365Ile) c.7067G>T (p.Ser2356Ile) c.7343G>T (p.Ser2448Ile) c.7340G>T (p.Ser2447Ile) n.7778G>T c.7475G>T (p.Ser2492Ile) c.7472G>T (p.Ser2491Ile) c.7454G>T (p.Ser2485Ile) c.7364G>T (p.Ser2455Ile) c.7226G>T (p.Ser2409Ile) | |
| X | g.53563757C>G | CA413160752 | HUWE1 | c.7091G>C (p.Ser2364Thr) c.7094G>C (p.Ser2365Thr) c.7067G>C (p.Ser2356Thr) c.7343G>C (p.Ser2448Thr) c.7340G>C (p.Ser2447Thr) n.7778G>C c.7475G>C (p.Ser2492Thr) c.7472G>C (p.Ser2491Thr) c.7454G>C (p.Ser2485Thr) c.7364G>C (p.Ser2455Thr) c.7226G>C (p.Ser2409Thr) | |
| X | g.53563757C>T | CA413160755 | HUWE1 | c.7091G>A (p.Ser2364Asn) c.7094G>A (p.Ser2365Asn) c.7067G>A (p.Ser2356Asn) c.7343G>A (p.Ser2448Asn) c.7340G>A (p.Ser2447Asn) n.7778G>A c.7475G>A (p.Ser2492Asn) c.7472G>A (p.Ser2491Asn) c.7454G>A (p.Ser2485Asn) c.7364G>A (p.Ser2455Asn) c.7226G>A (p.Ser2409Asn) | |
| X | g.53563758T>A | CA413160766 | HUWE1 | c.7090A>T (p.Ser2364Cys) c.7093A>T (p.Ser2365Cys) c.7066A>T (p.Ser2356Cys) c.7342A>T (p.Ser2448Cys) c.7339A>T (p.Ser2447Cys) n.7777A>T c.7474A>T (p.Ser2492Cys) c.7471A>T (p.Ser2491Cys) c.7453A>T (p.Ser2485Cys) c.7363A>T (p.Ser2455Cys) c.7225A>T (p.Ser2409Cys) | |
| X | g.53563758T>C | CA413160762 | HUWE1 | c.7090A>G (p.Ser2364Gly) c.7093A>G (p.Ser2365Gly) c.7066A>G (p.Ser2356Gly) c.7342A>G (p.Ser2448Gly) c.7339A>G (p.Ser2447Gly) n.7777A>G c.7474A>G (p.Ser2492Gly) c.7471A>G (p.Ser2491Gly) c.7453A>G (p.Ser2485Gly) c.7363A>G (p.Ser2455Gly) c.7225A>G (p.Ser2409Gly) | |
| X | g.53563758T>G | CA413160758 | HUWE1 | c.7090A>C (p.Ser2364Arg) c.7093A>C (p.Ser2365Arg) c.7066A>C (p.Ser2356Arg) c.7342A>C (p.Ser2448Arg) c.7339A>C (p.Ser2447Arg) n.7777A>C c.7474A>C (p.Ser2492Arg) c.7471A>C (p.Ser2491Arg) c.7453A>C (p.Ser2485Arg) c.7363A>C (p.Ser2455Arg) c.7225A>C (p.Ser2409Arg) | |
| X | g.53563759G>A | CA516433258 | HUWE1 | c.7089C>T (p.Asn2363=) c.7092C>T (p.Asn2364=) c.7065C>T (p.Asn2355=) c.7341C>T (p.Asn2447=) c.7338C>T (p.Asn2446=) n.7776C>T c.7473C>T (p.Asn2491=) c.7470C>T (p.Asn2490=) c.7452C>T (p.Asn2484=) c.7362C>T (p.Asn2454=) c.7224C>T (p.Asn2408=) | |
| X | g.53563759G>C | CA413160769 | HUWE1 | c.7089C>G (p.Asn2363Lys) c.7092C>G (p.Asn2364Lys) c.7065C>G (p.Asn2355Lys) c.7341C>G (p.Asn2447Lys) c.7338C>G (p.Asn2446Lys) n.7776C>G c.7473C>G (p.Asn2491Lys) c.7470C>G (p.Asn2490Lys) c.7452C>G (p.Asn2484Lys) c.7362C>G (p.Asn2454Lys) c.7224C>G (p.Asn2408Lys) | |
| X | g.53563759G>T | CA413160771 | HUWE1 | c.7089C>A (p.Asn2363Lys) c.7092C>A (p.Asn2364Lys) c.7065C>A (p.Asn2355Lys) c.7341C>A (p.Asn2447Lys) c.7338C>A (p.Asn2446Lys) n.7776C>A c.7473C>A (p.Asn2491Lys) c.7470C>A (p.Asn2490Lys) c.7452C>A (p.Asn2484Lys) c.7362C>A (p.Asn2454Lys) c.7224C>A (p.Asn2408Lys) | |
| X | g.53563760T>A | CA413160776 | HUWE1 | c.7088A>T (p.Asn2363Ile) c.7091A>T (p.Asn2364Ile) c.7064A>T (p.Asn2355Ile) c.7340A>T (p.Asn2447Ile) c.7337A>T (p.Asn2446Ile) n.7775A>T c.7472A>T (p.Asn2491Ile) c.7469A>T (p.Asn2490Ile) c.7451A>T (p.Asn2484Ile) c.7361A>T (p.Asn2454Ile) c.7223A>T (p.Asn2408Ile) | |
| X | g.53563760T>C | CA413160783 | HUWE1 | c.7088A>G (p.Asn2363Ser) c.7091A>G (p.Asn2364Ser) c.7064A>G (p.Asn2355Ser) c.7340A>G (p.Asn2447Ser) c.7337A>G (p.Asn2446Ser) n.7775A>G c.7472A>G (p.Asn2491Ser) c.7469A>G (p.Asn2490Ser) c.7451A>G (p.Asn2484Ser) c.7361A>G (p.Asn2454Ser) c.7223A>G (p.Asn2408Ser) | |
| X | g.53563760T>G | CA413160786 | HUWE1 | c.7088A>C (p.Asn2363Thr) c.7091A>C (p.Asn2364Thr) c.7064A>C (p.Asn2355Thr) c.7340A>C (p.Asn2447Thr) c.7337A>C (p.Asn2446Thr) n.7775A>C c.7472A>C (p.Asn2491Thr) c.7469A>C (p.Asn2490Thr) c.7451A>C (p.Asn2484Thr) c.7361A>C (p.Asn2454Thr) c.7223A>C (p.Asn2408Thr) | |
| X | g.53563761T>A | CA413160789 | HUWE1 | c.7087A>T (p.Asn2363Tyr) c.7090A>T (p.Asn2364Tyr) c.7063A>T (p.Asn2355Tyr) c.7339A>T (p.Asn2447Tyr) c.7336A>T (p.Asn2446Tyr) n.7774A>T c.7471A>T (p.Asn2491Tyr) c.7468A>T (p.Asn2490Tyr) c.7450A>T (p.Asn2484Tyr) c.7360A>T (p.Asn2454Tyr) c.7222A>T (p.Asn2408Tyr) | |
| X | g.53563761T>C | CA413160798 | HUWE1 | c.7087A>G (p.Asn2363Asp) c.7090A>G (p.Asn2364Asp) c.7063A>G (p.Asn2355Asp) c.7339A>G (p.Asn2447Asp) c.7336A>G (p.Asn2446Asp) n.7774A>G c.7471A>G (p.Asn2491Asp) c.7468A>G (p.Asn2490Asp) c.7450A>G (p.Asn2484Asp) c.7360A>G (p.Asn2454Asp) c.7222A>G (p.Asn2408Asp) | |
| X | g.53563761T>G | CA413160799 | HUWE1 | c.7087A>C (p.Asn2363His) c.7090A>C (p.Asn2364His) c.7063A>C (p.Asn2355His) c.7339A>C (p.Asn2447His) c.7336A>C (p.Asn2446His) n.7774A>C c.7471A>C (p.Asn2491His) c.7468A>C (p.Asn2490His) c.7450A>C (p.Asn2484His) c.7360A>C (p.Asn2454His) c.7222A>C (p.Asn2408His) | |
| X | g.53563762C>A | CA516433260 | HUWE1 | c.7086G>T (p.Gly2362=) c.7089G>T (p.Gly2363=) c.7062G>T (p.Gly2354=) c.7338G>T (p.Gly2446=) c.7335G>T (p.Gly2445=) n.7773G>T c.7470G>T (p.Gly2490=) c.7467G>T (p.Gly2489=) c.7449G>T (p.Gly2483=) c.7359G>T (p.Gly2453=) c.7221G>T (p.Gly2407=) | |
| X | g.53563762C>G | CA516433262 | HUWE1 | c.7086G>C (p.Gly2362=) c.7089G>C (p.Gly2363=) c.7062G>C (p.Gly2354=) c.7338G>C (p.Gly2446=) c.7335G>C (p.Gly2445=) n.7773G>C c.7470G>C (p.Gly2490=) c.7467G>C (p.Gly2489=) c.7449G>C (p.Gly2483=) c.7359G>C (p.Gly2453=) c.7221G>C (p.Gly2407=) | gnomAD v4 |
| X | g.53563762C>T | CA516433261 | HUWE1 | c.7086G>A (p.Gly2362=) c.7089G>A (p.Gly2363=) c.7062G>A (p.Gly2354=) c.7338G>A (p.Gly2446=) c.7335G>A (p.Gly2445=) n.7773G>A c.7470G>A (p.Gly2490=) c.7467G>A (p.Gly2489=) c.7449G>A (p.Gly2483=) c.7359G>A (p.Gly2453=) c.7221G>A (p.Gly2407=) | |
| X | g.53563763C>A | CA413160800 | HUWE1 | c.7085G>T (p.Gly2362Val) c.7088G>T (p.Gly2363Val) c.7061G>T (p.Gly2354Val) c.7337G>T (p.Gly2446Val) c.7334G>T (p.Gly2445Val) n.7772G>T c.7469G>T (p.Gly2490Val) c.7466G>T (p.Gly2489Val) c.7448G>T (p.Gly2483Val) c.7358G>T (p.Gly2453Val) c.7220G>T (p.Gly2407Val) | |
| X | g.53563763C>G | CA413160801 | HUWE1 | c.7085G>C (p.Gly2362Ala) c.7088G>C (p.Gly2363Ala) c.7061G>C (p.Gly2354Ala) c.7337G>C (p.Gly2446Ala) c.7334G>C (p.Gly2445Ala) n.7772G>C c.7469G>C (p.Gly2490Ala) c.7466G>C (p.Gly2489Ala) c.7448G>C (p.Gly2483Ala) c.7358G>C (p.Gly2453Ala) c.7220G>C (p.Gly2407Ala) | |
| X | g.53563763C>T | CA413160802 | HUWE1 | c.7085G>A (p.Gly2362Glu) c.7088G>A (p.Gly2363Glu) c.7061G>A (p.Gly2354Glu) c.7337G>A (p.Gly2446Glu) c.7334G>A (p.Gly2445Glu) n.7772G>A c.7469G>A (p.Gly2490Glu) c.7466G>A (p.Gly2489Glu) c.7448G>A (p.Gly2483Glu) c.7358G>A (p.Gly2453Glu) c.7220G>A (p.Gly2407Glu) | gnomAD v4 |
| X | g.53563764C>A | CA413160827 | HUWE1 | c.7084G>T (p.Gly2362Trp) c.7087G>T (p.Gly2363Trp) c.7060G>T (p.Gly2354Trp) c.7336G>T (p.Gly2446Trp) c.7333G>T (p.Gly2445Trp) n.7771G>T c.7468G>T (p.Gly2490Trp) c.7465G>T (p.Gly2489Trp) c.7447G>T (p.Gly2483Trp) c.7357G>T (p.Gly2453Trp) c.7219G>T (p.Gly2407Trp) | |
| X | g.53563764C>G | CA413160819 | HUWE1 | c.7084G>C (p.Gly2362Arg) c.7087G>C (p.Gly2363Arg) c.7060G>C (p.Gly2354Arg) c.7336G>C (p.Gly2446Arg) c.7333G>C (p.Gly2445Arg) n.7771G>C c.7468G>C (p.Gly2490Arg) c.7465G>C (p.Gly2489Arg) c.7447G>C (p.Gly2483Arg) c.7357G>C (p.Gly2453Arg) c.7219G>C (p.Gly2407Arg) | |
| X | g.53563764C>T | CA413160806 | HUWE1 | c.7084G>A (p.Gly2362Arg) c.7087G>A (p.Gly2363Arg) c.7060G>A (p.Gly2354Arg) c.7336G>A (p.Gly2446Arg) c.7333G>A (p.Gly2445Arg) n.7771G>A c.7468G>A (p.Gly2490Arg) c.7465G>A (p.Gly2489Arg) c.7447G>A (p.Gly2483Arg) c.7357G>A (p.Gly2453Arg) c.7219G>A (p.Gly2407Arg) | |
| X | g.53563765A>C | CA516433263 | HUWE1 | c.7083T>G (p.Ser2361=) c.7086T>G (p.Ser2362=) c.7059T>G (p.Ser2353=) c.7335T>G (p.Ser2445=) c.7332T>G (p.Ser2444=) n.7770T>G c.7467T>G (p.Ser2489=) c.7464T>G (p.Ser2488=) c.7446T>G (p.Ser2482=) c.7356T>G (p.Ser2452=) c.7218T>G (p.Ser2406=) | |
| X | g.53563765A>G | CA516433264 | HUWE1 | c.7083T>C (p.Ser2361=) c.7086T>C (p.Ser2362=) c.7059T>C (p.Ser2353=) c.7335T>C (p.Ser2445=) c.7332T>C (p.Ser2444=) n.7770T>C c.7467T>C (p.Ser2489=) c.7464T>C (p.Ser2488=) c.7446T>C (p.Ser2482=) c.7356T>C (p.Ser2452=) c.7218T>C (p.Ser2406=) | |
| X | g.53563765A>T | CA516433265 | HUWE1 | c.7083T>A (p.Ser2361=) c.7086T>A (p.Ser2362=) c.7059T>A (p.Ser2353=) c.7335T>A (p.Ser2445=) c.7332T>A (p.Ser2444=) n.7770T>A c.7467T>A (p.Ser2489=) c.7464T>A (p.Ser2488=) c.7446T>A (p.Ser2482=) c.7356T>A (p.Ser2452=) c.7218T>A (p.Ser2406=) | |
| X | g.53563766G>A | CA413160830 | HUWE1 | c.7082C>T (p.Ser2361Phe) c.7085C>T (p.Ser2362Phe) c.7058C>T (p.Ser2353Phe) c.7334C>T (p.Ser2445Phe) c.7331C>T (p.Ser2444Phe) n.7769C>T c.7466C>T (p.Ser2489Phe) c.7463C>T (p.Ser2488Phe) c.7445C>T (p.Ser2482Phe) c.7355C>T (p.Ser2452Phe) c.7217C>T (p.Ser2406Phe) | |
| X | g.53563766G>C | CA413160832 | HUWE1 | c.7082C>G (p.Ser2361Cys) c.7085C>G (p.Ser2362Cys) c.7058C>G (p.Ser2353Cys) c.7334C>G (p.Ser2445Cys) c.7331C>G (p.Ser2444Cys) n.7769C>G c.7466C>G (p.Ser2489Cys) c.7463C>G (p.Ser2488Cys) c.7445C>G (p.Ser2482Cys) c.7355C>G (p.Ser2452Cys) c.7217C>G (p.Ser2406Cys) | |
| X | g.53563766G>T | CA413160835 | HUWE1 | c.7082C>A (p.Ser2361Tyr) c.7085C>A (p.Ser2362Tyr) c.7058C>A (p.Ser2353Tyr) c.7334C>A (p.Ser2445Tyr) c.7331C>A (p.Ser2444Tyr) n.7769C>A c.7466C>A (p.Ser2489Tyr) c.7463C>A (p.Ser2488Tyr) c.7445C>A (p.Ser2482Tyr) c.7355C>A (p.Ser2452Tyr) c.7217C>A (p.Ser2406Tyr) | |
| X | g.53563767A>C | CA413160838 | HUWE1 | c.7081T>G (p.Ser2361Ala) c.7084T>G (p.Ser2362Ala) c.7057T>G (p.Ser2353Ala) c.7333T>G (p.Ser2445Ala) c.7330T>G (p.Ser2444Ala) n.7768T>G c.7465T>G (p.Ser2489Ala) c.7462T>G (p.Ser2488Ala) c.7444T>G (p.Ser2482Ala) c.7354T>G (p.Ser2452Ala) c.7216T>G (p.Ser2406Ala) | |
| X | g.53563767A>G | CA413160842 | HUWE1 | c.7081T>C (p.Ser2361Pro) c.7084T>C (p.Ser2362Pro) c.7057T>C (p.Ser2353Pro) c.7333T>C (p.Ser2445Pro) c.7330T>C (p.Ser2444Pro) n.7768T>C c.7465T>C (p.Ser2489Pro) c.7462T>C (p.Ser2488Pro) c.7444T>C (p.Ser2482Pro) c.7354T>C (p.Ser2452Pro) c.7216T>C (p.Ser2406Pro) | |
| X | g.53563767A>T | CA413160845 | HUWE1 | c.7081T>A (p.Ser2361Thr) c.7084T>A (p.Ser2362Thr) c.7057T>A (p.Ser2353Thr) c.7333T>A (p.Ser2445Thr) c.7330T>A (p.Ser2444Thr) n.7768T>A c.7465T>A (p.Ser2489Thr) c.7462T>A (p.Ser2488Thr) c.7444T>A (p.Ser2482Thr) c.7354T>A (p.Ser2452Thr) c.7216T>A (p.Ser2406Thr) | |
| X | g.53563768T>A | CA516433266 | HUWE1 | c.7080A>T (p.Gly2360=) c.7083A>T (p.Gly2361=) c.7056A>T (p.Gly2352=) c.7332A>T (p.Gly2444=) c.7329A>T (p.Gly2443=) n.7767A>T c.7464A>T (p.Gly2488=) c.7461A>T (p.Gly2487=) c.7443A>T (p.Gly2481=) c.7353A>T (p.Gly2451=) c.7215A>T (p.Gly2405=) | |
| X | g.53563768T>C | CA516433267 | HUWE1 | c.7080A>G (p.Gly2360=) c.7083A>G (p.Gly2361=) c.7056A>G (p.Gly2352=) c.7332A>G (p.Gly2444=) c.7329A>G (p.Gly2443=) n.7767A>G c.7464A>G (p.Gly2488=) c.7461A>G (p.Gly2487=) c.7443A>G (p.Gly2481=) c.7353A>G (p.Gly2451=) c.7215A>G (p.Gly2405=) | |
| X | g.53563768T>G | CA516433268 | HUWE1 | c.7080A>C (p.Gly2360=) c.7083A>C (p.Gly2361=) c.7056A>C (p.Gly2352=) c.7332A>C (p.Gly2444=) c.7329A>C (p.Gly2443=) n.7767A>C c.7464A>C (p.Gly2488=) c.7461A>C (p.Gly2487=) c.7443A>C (p.Gly2481=) c.7353A>C (p.Gly2451=) c.7215A>C (p.Gly2405=) | |
| X | g.53563769C>A | CA413160848 | HUWE1 | c.7079G>T (p.Gly2360Val) c.7082G>T (p.Gly2361Val) c.7055G>T (p.Gly2352Val) c.7331G>T (p.Gly2444Val) c.7328G>T (p.Gly2443Val) n.7766G>T c.7463G>T (p.Gly2488Val) c.7460G>T (p.Gly2487Val) c.7442G>T (p.Gly2481Val) c.7352G>T (p.Gly2451Val) c.7214G>T (p.Gly2405Val) | gnomAD v4 |
| X | g.53563769C>G | CA413160854 | HUWE1 | c.7079G>C (p.Gly2360Ala) c.7082G>C (p.Gly2361Ala) c.7055G>C (p.Gly2352Ala) c.7331G>C (p.Gly2444Ala) c.7328G>C (p.Gly2443Ala) n.7766G>C c.7463G>C (p.Gly2488Ala) c.7460G>C (p.Gly2487Ala) c.7442G>C (p.Gly2481Ala) c.7352G>C (p.Gly2451Ala) c.7214G>C (p.Gly2405Ala) | |
| X | g.53563769C>T | CA413160859 | HUWE1 | c.7079G>A (p.Gly2360Glu) c.7082G>A (p.Gly2361Glu) c.7055G>A (p.Gly2352Glu) c.7331G>A (p.Gly2444Glu) c.7328G>A (p.Gly2443Glu) n.7766G>A c.7463G>A (p.Gly2488Glu) c.7460G>A (p.Gly2487Glu) c.7442G>A (p.Gly2481Glu) c.7352G>A (p.Gly2451Glu) c.7214G>A (p.Gly2405Glu) | |
| X | g.53563770C>A | CA413160868 | HUWE1 | c.7078G>T (p.Gly2360Ter) c.7081G>T (p.Gly2361Ter) c.7054G>T (p.Gly2352Ter) c.7330G>T (p.Gly2444Ter) c.7327G>T (p.Gly2443Ter) n.7765G>T c.7462G>T (p.Gly2488Ter) c.7459G>T (p.Gly2487Ter) c.7441G>T (p.Gly2481Ter) c.7351G>T (p.Gly2451Ter) c.7213G>T (p.Gly2405Ter) | |
| X | g.53563770C= | CA2429879102 | HUWE1 | c.7078G= (p.Gly2360=) c.7081G= (p.Gly2361=) c.7054G= (p.Gly2352=) c.7330G= (p.Gly2444=) c.7327G= (p.Gly2443=) n.7765G= c.7462G= (p.Gly2488=) c.7459G= (p.Gly2487=) c.7441G= (p.Gly2481=) c.7351G= (p.Gly2451=) c.7213G= (p.Gly2405=) | |
| X | g.53563770C>G | CA413160870 | HUWE1 | c.7078G>C (p.Gly2360Arg) c.7081G>C (p.Gly2361Arg) c.7054G>C (p.Gly2352Arg) c.7330G>C (p.Gly2444Arg) c.7327G>C (p.Gly2443Arg) n.7765G>C c.7462G>C (p.Gly2488Arg) c.7459G>C (p.Gly2487Arg) c.7441G>C (p.Gly2481Arg) c.7351G>C (p.Gly2451Arg) c.7213G>C (p.Gly2405Arg) | |
| X | g.53563770C>T | CA413160871 | HUWE1 | c.7078G>A (p.Gly2360Arg) c.7081G>A (p.Gly2361Arg) c.7054G>A (p.Gly2352Arg) c.7330G>A (p.Gly2444Arg) c.7327G>A (p.Gly2443Arg) n.7765G>A c.7462G>A (p.Gly2488Arg) c.7459G>A (p.Gly2487Arg) c.7441G>A (p.Gly2481Arg) c.7351G>A (p.Gly2451Arg) c.7213G>A (p.Gly2405Arg) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| X | g.53563771G>A | CA516433270 | HUWE1 | c.7077C>T (p.Gly2359=) c.7080C>T (p.Gly2360=) c.7053C>T (p.Gly2351=) c.7329C>T (p.Gly2443=) c.7326C>T (p.Gly2442=) n.7764C>T c.7461C>T (p.Gly2487=) c.7458C>T (p.Gly2486=) c.7440C>T (p.Gly2480=) c.7350C>T (p.Gly2450=) c.7212C>T (p.Gly2404=) | dbSNP gnomAD v4 COSMIC COSMIC |
| X | g.53563771G>C | CA516433271 | HUWE1 | c.7077C>G (p.Gly2359=) c.7080C>G (p.Gly2360=) c.7053C>G (p.Gly2351=) c.7329C>G (p.Gly2443=) c.7326C>G (p.Gly2442=) n.7764C>G c.7461C>G (p.Gly2487=) c.7458C>G (p.Gly2486=) c.7440C>G (p.Gly2480=) c.7350C>G (p.Gly2450=) c.7212C>G (p.Gly2404=) | |
| X | g.53563771G= | CA2429879103 | HUWE1 | c.7077C= (p.Gly2359=) c.7080C= (p.Gly2360=) c.7053C= (p.Gly2351=) c.7329C= (p.Gly2443=) c.7326C= (p.Gly2442=) n.7764C= c.7461C= (p.Gly2487=) c.7458C= (p.Gly2486=) c.7440C= (p.Gly2480=) c.7350C= (p.Gly2450=) c.7212C= (p.Gly2404=) | |
| X | g.53563771G>T | CA516433269 | HUWE1 | c.7077C>A (p.Gly2359=) c.7080C>A (p.Gly2360=) c.7053C>A (p.Gly2351=) c.7329C>A (p.Gly2443=) c.7326C>A (p.Gly2442=) n.7764C>A c.7461C>A (p.Gly2487=) c.7458C>A (p.Gly2486=) c.7440C>A (p.Gly2480=) c.7350C>A (p.Gly2450=) c.7212C>A (p.Gly2404=) | |
| X | g.53563772C>A | CA413160879 | HUWE1 | c.7076G>T (p.Gly2359Val) c.7079G>T (p.Gly2360Val) c.7052G>T (p.Gly2351Val) c.7328G>T (p.Gly2443Val) c.7325G>T (p.Gly2442Val) n.7763G>T c.7460G>T (p.Gly2487Val) c.7457G>T (p.Gly2486Val) c.7439G>T (p.Gly2480Val) c.7349G>T (p.Gly2450Val) c.7211G>T (p.Gly2404Val) | |
| X | g.53563772C>G | CA413160878 | HUWE1 | c.7076G>C (p.Gly2359Ala) c.7079G>C (p.Gly2360Ala) c.7052G>C (p.Gly2351Ala) c.7328G>C (p.Gly2443Ala) c.7325G>C (p.Gly2442Ala) n.7763G>C c.7460G>C (p.Gly2487Ala) c.7457G>C (p.Gly2486Ala) c.7439G>C (p.Gly2480Ala) c.7349G>C (p.Gly2450Ala) c.7211G>C (p.Gly2404Ala) | |
| X | g.53563772C>T | CA413160876 | HUWE1 | c.7076G>A (p.Gly2359Asp) c.7079G>A (p.Gly2360Asp) c.7052G>A (p.Gly2351Asp) c.7328G>A (p.Gly2443Asp) c.7325G>A (p.Gly2442Asp) n.7763G>A c.7460G>A (p.Gly2487Asp) c.7457G>A (p.Gly2486Asp) c.7439G>A (p.Gly2480Asp) c.7349G>A (p.Gly2450Asp) c.7211G>A (p.Gly2404Asp) | |
| X | g.53563773C>A | CA10422003 | HUWE1 | c.7075G>T (p.Gly2359Cys) c.7078G>T (p.Gly2360Cys) c.7051G>T (p.Gly2351Cys) c.7327G>T (p.Gly2443Cys) c.7324G>T (p.Gly2442Cys) n.7762G>T c.7459G>T (p.Gly2487Cys) c.7456G>T (p.Gly2486Cys) c.7438G>T (p.Gly2480Cys) c.7348G>T (p.Gly2450Cys) c.7210G>T (p.Gly2404Cys) | dbSNP ExAC |
| X | g.53563773C= | CA2429879104 | HUWE1 | c.7075G= (p.Gly2359=) c.7078G= (p.Gly2360=) c.7051G= (p.Gly2351=) c.7327G= (p.Gly2443=) c.7324G= (p.Gly2442=) n.7762G= c.7459G= (p.Gly2487=) c.7456G= (p.Gly2486=) c.7438G= (p.Gly2480=) c.7348G= (p.Gly2450=) c.7210G= (p.Gly2404=) | |
| X | g.53563773C>G | CA413160883 | HUWE1 | c.7075G>C (p.Gly2359Arg) c.7078G>C (p.Gly2360Arg) c.7051G>C (p.Gly2351Arg) c.7327G>C (p.Gly2443Arg) c.7324G>C (p.Gly2442Arg) n.7762G>C c.7459G>C (p.Gly2487Arg) c.7456G>C (p.Gly2486Arg) c.7438G>C (p.Gly2480Arg) c.7348G>C (p.Gly2450Arg) c.7210G>C (p.Gly2404Arg) | |
| X | g.53563773C>T | CA413160880 | HUWE1 | c.7075G>A (p.Gly2359Ser) c.7078G>A (p.Gly2360Ser) c.7051G>A (p.Gly2351Ser) c.7327G>A (p.Gly2443Ser) c.7324G>A (p.Gly2442Ser) n.7762G>A c.7459G>A (p.Gly2487Ser) c.7456G>A (p.Gly2486Ser) c.7438G>A (p.Gly2480Ser) c.7348G>A (p.Gly2450Ser) c.7210G>A (p.Gly2404Ser) | |
| X | g.53563774A>C | CA413160884 | HUWE1 | c.7074T>G (p.Asp2358Glu) c.7077T>G (p.Asp2359Glu) c.7050T>G (p.Asp2350Glu) c.7326T>G (p.Asp2442Glu) c.7323T>G (p.Asp2441Glu) n.7761T>G c.7458T>G (p.Asp2486Glu) c.7455T>G (p.Asp2485Glu) c.7437T>G (p.Asp2479Glu) c.7347T>G (p.Asp2449Glu) c.7209T>G (p.Asp2403Glu) | |
| X | g.53563774A>G | CA516433272 | HUWE1 | c.7074T>C (p.Asp2358=) c.7077T>C (p.Asp2359=) c.7050T>C (p.Asp2350=) c.7326T>C (p.Asp2442=) c.7323T>C (p.Asp2441=) n.7761T>C c.7458T>C (p.Asp2486=) c.7455T>C (p.Asp2485=) c.7437T>C (p.Asp2479=) c.7347T>C (p.Asp2449=) c.7209T>C (p.Asp2403=) | |
| X | g.53563774A>T | CA413160886 | HUWE1 | c.7074T>A (p.Asp2358Glu) c.7077T>A (p.Asp2359Glu) c.7050T>A (p.Asp2350Glu) c.7326T>A (p.Asp2442Glu) c.7323T>A (p.Asp2441Glu) n.7761T>A c.7458T>A (p.Asp2486Glu) c.7455T>A (p.Asp2485Glu) c.7437T>A (p.Asp2479Glu) c.7347T>A (p.Asp2449Glu) c.7209T>A (p.Asp2403Glu) | |
| X | g.53563775T>A | CA413160890 | HUWE1 | c.7073A>T (p.Asp2358Val) c.7076A>T (p.Asp2359Val) c.7049A>T (p.Asp2350Val) c.7325A>T (p.Asp2442Val) c.7322A>T (p.Asp2441Val) n.7760A>T c.7457A>T (p.Asp2486Val) c.7454A>T (p.Asp2485Val) c.7436A>T (p.Asp2479Val) c.7346A>T (p.Asp2449Val) c.7208A>T (p.Asp2403Val) | |
| X | g.53563775T>C | CA413160891 | HUWE1 | c.7073A>G (p.Asp2358Gly) c.7076A>G (p.Asp2359Gly) c.7049A>G (p.Asp2350Gly) c.7325A>G (p.Asp2442Gly) c.7322A>G (p.Asp2441Gly) n.7760A>G c.7457A>G (p.Asp2486Gly) c.7454A>G (p.Asp2485Gly) c.7436A>G (p.Asp2479Gly) c.7346A>G (p.Asp2449Gly) c.7208A>G (p.Asp2403Gly) | |
| X | g.53563775T>G | CA413160893 | HUWE1 | c.7073A>C (p.Asp2358Ala) c.7076A>C (p.Asp2359Ala) c.7049A>C (p.Asp2350Ala) c.7325A>C (p.Asp2442Ala) c.7322A>C (p.Asp2441Ala) n.7760A>C c.7457A>C (p.Asp2486Ala) c.7454A>C (p.Asp2485Ala) c.7436A>C (p.Asp2479Ala) c.7346A>C (p.Asp2449Ala) c.7208A>C (p.Asp2403Ala) | |
| X | g.53563776C>A | CA413160896 | HUWE1 | c.7072G>T (p.Asp2358Tyr) c.7075G>T (p.Asp2359Tyr) c.7048G>T (p.Asp2350Tyr) c.7324G>T (p.Asp2442Tyr) c.7321G>T (p.Asp2441Tyr) n.7759G>T c.7456G>T (p.Asp2486Tyr) c.7453G>T (p.Asp2485Tyr) c.7435G>T (p.Asp2479Tyr) c.7345G>T (p.Asp2449Tyr) c.7207G>T (p.Asp2403Tyr) | |
| X | g.53563776C>G | CA413160899 | HUWE1 | c.7072G>C (p.Asp2358His) c.7075G>C (p.Asp2359His) c.7048G>C (p.Asp2350His) c.7324G>C (p.Asp2442His) c.7321G>C (p.Asp2441His) n.7759G>C c.7456G>C (p.Asp2486His) c.7453G>C (p.Asp2485His) c.7435G>C (p.Asp2479His) c.7345G>C (p.Asp2449His) c.7207G>C (p.Asp2403His) | |
| X | g.53563776C>T | CA413160902 | HUWE1 | c.7072G>A (p.Asp2358Asn) c.7075G>A (p.Asp2359Asn) c.7048G>A (p.Asp2350Asn) c.7324G>A (p.Asp2442Asn) c.7321G>A (p.Asp2441Asn) n.7759G>A c.7456G>A (p.Asp2486Asn) c.7453G>A (p.Asp2485Asn) c.7435G>A (p.Asp2479Asn) c.7345G>A (p.Asp2449Asn) c.7207G>A (p.Asp2403Asn) | |
| X | g.53563777C>A | CA413160903 | HUWE1 | c.7071G>T (p.Arg2357Ser) c.7074G>T (p.Arg2358Ser) c.7047G>T (p.Arg2349Ser) c.7323G>T (p.Arg2441Ser) c.7320G>T (p.Arg2440Ser) n.7758G>T c.7455G>T (p.Arg2485Ser) c.7452G>T (p.Arg2484Ser) c.7434G>T (p.Arg2478Ser) c.7344G>T (p.Arg2448Ser) c.7206G>T (p.Arg2402Ser) | |
| X | g.53563777C>G | CA413160906 | HUWE1 | c.7071G>C (p.Arg2357Ser) c.7074G>C (p.Arg2358Ser) c.7047G>C (p.Arg2349Ser) c.7323G>C (p.Arg2441Ser) c.7320G>C (p.Arg2440Ser) n.7758G>C c.7455G>C (p.Arg2485Ser) c.7452G>C (p.Arg2484Ser) c.7434G>C (p.Arg2478Ser) c.7344G>C (p.Arg2448Ser) c.7206G>C (p.Arg2402Ser) | |
| X | g.53563777C>T | CA516433273 | HUWE1 | c.7071G>A (p.Arg2357=) c.7074G>A (p.Arg2358=) c.7047G>A (p.Arg2349=) c.7323G>A (p.Arg2441=) c.7320G>A (p.Arg2440=) n.7758G>A c.7455G>A (p.Arg2485=) c.7452G>A (p.Arg2484=) c.7434G>A (p.Arg2478=) c.7344G>A (p.Arg2448=) c.7206G>A (p.Arg2402=) | |
| X | g.53563778C>A | CA413160910 | HUWE1 | c.7070G>T (p.Arg2357Met) c.7073G>T (p.Arg2358Met) c.7046G>T (p.Arg2349Met) c.7322G>T (p.Arg2441Met) c.7319G>T (p.Arg2440Met) n.7757G>T c.7454G>T (p.Arg2485Met) c.7451G>T (p.Arg2484Met) c.7433G>T (p.Arg2478Met) c.7343G>T (p.Arg2448Met) c.7205G>T (p.Arg2402Met) | |
| X | g.53563778C>G | CA413160913 | HUWE1 | c.7070G>C (p.Arg2357Thr) c.7073G>C (p.Arg2358Thr) c.7046G>C (p.Arg2349Thr) c.7322G>C (p.Arg2441Thr) c.7319G>C (p.Arg2440Thr) n.7757G>C c.7454G>C (p.Arg2485Thr) c.7451G>C (p.Arg2484Thr) c.7433G>C (p.Arg2478Thr) c.7343G>C (p.Arg2448Thr) c.7205G>C (p.Arg2402Thr) | |
| X | g.53563778C>T | CA413160916 | HUWE1 | c.7070G>A (p.Arg2357Lys) c.7073G>A (p.Arg2358Lys) c.7046G>A (p.Arg2349Lys) c.7322G>A (p.Arg2441Lys) c.7319G>A (p.Arg2440Lys) n.7757G>A c.7454G>A (p.Arg2485Lys) c.7451G>A (p.Arg2484Lys) c.7433G>A (p.Arg2478Lys) c.7343G>A (p.Arg2448Lys) c.7205G>A (p.Arg2402Lys) | |
| X | g.53563779T>A | CA413160919 | HUWE1 | c.7069A>T (p.Arg2357Trp) c.7072A>T (p.Arg2358Trp) c.7045A>T (p.Arg2349Trp) c.7321A>T (p.Arg2441Trp) c.7318A>T (p.Arg2440Trp) n.7756A>T c.7453A>T (p.Arg2485Trp) c.7450A>T (p.Arg2484Trp) c.7432A>T (p.Arg2478Trp) c.7342A>T (p.Arg2448Trp) c.7204A>T (p.Arg2402Trp) | |
| X | g.53563779T>C | CA413160921 | HUWE1 | c.7069A>G (p.Arg2357Gly) c.7072A>G (p.Arg2358Gly) c.7045A>G (p.Arg2349Gly) c.7321A>G (p.Arg2441Gly) c.7318A>G (p.Arg2440Gly) n.7756A>G c.7453A>G (p.Arg2485Gly) c.7450A>G (p.Arg2484Gly) c.7432A>G (p.Arg2478Gly) c.7342A>G (p.Arg2448Gly) c.7204A>G (p.Arg2402Gly) | |
| X | g.53563779T>G | CA516433274 | HUWE1 | c.7069A>C (p.Arg2357=) c.7072A>C (p.Arg2358=) c.7045A>C (p.Arg2349=) c.7321A>C (p.Arg2441=) c.7318A>C (p.Arg2440=) n.7756A>C c.7453A>C (p.Arg2485=) c.7450A>C (p.Arg2484=) c.7432A>C (p.Arg2478=) c.7342A>C (p.Arg2448=) c.7204A>C (p.Arg2402=) | |
| X | g.53563780C>A | CA413160926 | HUWE1 | c.7068G>T (p.Glu2356Asp) c.7071G>T (p.Glu2357Asp) c.7044G>T (p.Glu2348Asp) c.7320G>T (p.Glu2440Asp) c.7317G>T (p.Glu2439Asp) n.7755G>T c.7452G>T (p.Glu2484Asp) c.7449G>T (p.Glu2483Asp) c.7431G>T (p.Glu2477Asp) c.7341G>T (p.Glu2447Asp) c.7203G>T (p.Glu2401Asp) | |
| X | g.53563780C>G | CA413160929 | HUWE1 | c.7068G>C (p.Glu2356Asp) c.7071G>C (p.Glu2357Asp) c.7044G>C (p.Glu2348Asp) c.7320G>C (p.Glu2440Asp) c.7317G>C (p.Glu2439Asp) n.7755G>C c.7452G>C (p.Glu2484Asp) c.7449G>C (p.Glu2483Asp) c.7431G>C (p.Glu2477Asp) c.7341G>C (p.Glu2447Asp) c.7203G>C (p.Glu2401Asp) | |
| X | g.53563780C>T | CA516433275 | HUWE1 | c.7068G>A (p.Glu2356=) c.7071G>A (p.Glu2357=) c.7044G>A (p.Glu2348=) c.7320G>A (p.Glu2440=) c.7317G>A (p.Glu2439=) n.7755G>A c.7452G>A (p.Glu2484=) c.7449G>A (p.Glu2483=) c.7431G>A (p.Glu2477=) c.7341G>A (p.Glu2447=) c.7203G>A (p.Glu2401=) | |
| X | g.53563781T>A | CA413160931 | HUWE1 | c.7067A>T (p.Glu2356Val) c.7070A>T (p.Glu2357Val) c.7043A>T (p.Glu2348Val) c.7319A>T (p.Glu2440Val) c.7316A>T (p.Glu2439Val) n.7754A>T c.7451A>T (p.Glu2484Val) c.7448A>T (p.Glu2483Val) c.7430A>T (p.Glu2477Val) c.7340A>T (p.Glu2447Val) c.7202A>T (p.Glu2401Val) | |
| X | g.53563781T>C | CA413160932 | HUWE1 | c.7067A>G (p.Glu2356Gly) c.7070A>G (p.Glu2357Gly) c.7043A>G (p.Glu2348Gly) c.7319A>G (p.Glu2440Gly) c.7316A>G (p.Glu2439Gly) n.7754A>G c.7451A>G (p.Glu2484Gly) c.7448A>G (p.Glu2483Gly) c.7430A>G (p.Glu2477Gly) c.7340A>G (p.Glu2447Gly) c.7202A>G (p.Glu2401Gly) | |
| X | g.53563781T>G | CA413160935 | HUWE1 | c.7067A>C (p.Glu2356Ala) c.7070A>C (p.Glu2357Ala) c.7043A>C (p.Glu2348Ala) c.7319A>C (p.Glu2440Ala) c.7316A>C (p.Glu2439Ala) n.7754A>C c.7451A>C (p.Glu2484Ala) c.7448A>C (p.Glu2483Ala) c.7430A>C (p.Glu2477Ala) c.7340A>C (p.Glu2447Ala) c.7202A>C (p.Glu2401Ala) | |
| X | g.53563782C>A | CA413160939 | HUWE1 | c.7066G>T (p.Glu2356Ter) c.7069G>T (p.Glu2357Ter) c.7042G>T (p.Glu2348Ter) c.7318G>T (p.Glu2440Ter) c.7315G>T (p.Glu2439Ter) n.7753G>T c.7450G>T (p.Glu2484Ter) c.7447G>T (p.Glu2483Ter) c.7429G>T (p.Glu2477Ter) c.7339G>T (p.Glu2447Ter) c.7201G>T (p.Glu2401Ter) | |
| X | g.53563782C>G | CA413160942 | HUWE1 | c.7066G>C (p.Glu2356Gln) c.7069G>C (p.Glu2357Gln) c.7042G>C (p.Glu2348Gln) c.7318G>C (p.Glu2440Gln) c.7315G>C (p.Glu2439Gln) n.7753G>C c.7450G>C (p.Glu2484Gln) c.7447G>C (p.Glu2483Gln) c.7429G>C (p.Glu2477Gln) c.7339G>C (p.Glu2447Gln) c.7201G>C (p.Glu2401Gln) | gnomAD v4 |
| X | g.53563782C>T | CA413160945 | HUWE1 | c.7066G>A (p.Glu2356Lys) c.7069G>A (p.Glu2357Lys) c.7042G>A (p.Glu2348Lys) c.7318G>A (p.Glu2440Lys) c.7315G>A (p.Glu2439Lys) n.7753G>A c.7450G>A (p.Glu2484Lys) c.7447G>A (p.Glu2483Lys) c.7429G>A (p.Glu2477Lys) c.7339G>A (p.Glu2447Lys) c.7201G>A (p.Glu2401Lys) | |
| X | g.53563783A>C | CA516433276 | HUWE1 | c.7065T>G (p.Leu2355=) c.7068T>G (p.Leu2356=) c.7041T>G (p.Leu2347=) c.7317T>G (p.Leu2439=) c.7314T>G (p.Leu2438=) n.7752T>G c.7449T>G (p.Leu2483=) c.7446T>G (p.Leu2482=) c.7428T>G (p.Leu2476=) c.7338T>G (p.Leu2446=) c.7200T>G (p.Leu2400=) | gnomAD v4 |
| X | g.53563783A>G | CA516433277 | HUWE1 | c.7065T>C (p.Leu2355=) c.7068T>C (p.Leu2356=) c.7041T>C (p.Leu2347=) c.7317T>C (p.Leu2439=) c.7314T>C (p.Leu2438=) n.7752T>C c.7449T>C (p.Leu2483=) c.7446T>C (p.Leu2482=) c.7428T>C (p.Leu2476=) c.7338T>C (p.Leu2446=) c.7200T>C (p.Leu2400=) | |
| X | g.53563783A>T | CA516433278 | HUWE1 | c.7065T>A (p.Leu2355=) c.7068T>A (p.Leu2356=) c.7041T>A (p.Leu2347=) c.7317T>A (p.Leu2439=) c.7314T>A (p.Leu2438=) n.7752T>A c.7449T>A (p.Leu2483=) c.7446T>A (p.Leu2482=) c.7428T>A (p.Leu2476=) c.7338T>A (p.Leu2446=) c.7200T>A (p.Leu2400=) | |
| X | g.53563784A>C | CA413160950 | HUWE1 | c.7064T>G (p.Leu2355Arg) c.7067T>G (p.Leu2356Arg) c.7040T>G (p.Leu2347Arg) c.7316T>G (p.Leu2439Arg) c.7313T>G (p.Leu2438Arg) n.7751T>G c.7448T>G (p.Leu2483Arg) c.7445T>G (p.Leu2482Arg) c.7427T>G (p.Leu2476Arg) c.7337T>G (p.Leu2446Arg) c.7199T>G (p.Leu2400Arg) | |
| X | g.53563784A>G | CA413160953 | HUWE1 | c.7064T>C (p.Leu2355Pro) c.7067T>C (p.Leu2356Pro) c.7040T>C (p.Leu2347Pro) c.7316T>C (p.Leu2439Pro) c.7313T>C (p.Leu2438Pro) n.7751T>C c.7448T>C (p.Leu2483Pro) c.7445T>C (p.Leu2482Pro) c.7427T>C (p.Leu2476Pro) c.7337T>C (p.Leu2446Pro) c.7199T>C (p.Leu2400Pro) | |
| X | g.53563784A>T | CA413160956 | HUWE1 | c.7064T>A (p.Leu2355His) c.7067T>A (p.Leu2356His) c.7040T>A (p.Leu2347His) c.7316T>A (p.Leu2439His) c.7313T>A (p.Leu2438His) n.7751T>A c.7448T>A (p.Leu2483His) c.7445T>A (p.Leu2482His) c.7427T>A (p.Leu2476His) c.7337T>A (p.Leu2446His) c.7199T>A (p.Leu2400His) | |
| X | g.53563785G>A | CA16608535 | HUWE1 | c.7063C>T (p.Leu2355Phe) c.7066C>T (p.Leu2356Phe) c.7039C>T (p.Leu2347Phe) c.7315C>T (p.Leu2439Phe) c.7312C>T (p.Leu2438Phe) n.7750C>T c.7447C>T (p.Leu2483Phe) c.7444C>T (p.Leu2482Phe) c.7426C>T (p.Leu2476Phe) c.7336C>T (p.Leu2446Phe) c.7198C>T (p.Leu2400Phe) | ClinVar dbSNP |
| X | g.53563785G>C | CA413160959 | HUWE1 | c.7063C>G (p.Leu2355Val) c.7066C>G (p.Leu2356Val) c.7039C>G (p.Leu2347Val) c.7315C>G (p.Leu2439Val) c.7312C>G (p.Leu2438Val) n.7750C>G c.7447C>G (p.Leu2483Val) c.7444C>G (p.Leu2482Val) c.7426C>G (p.Leu2476Val) c.7336C>G (p.Leu2446Val) c.7198C>G (p.Leu2400Val) | |
| X | g.53563785G= | CA2429879105 | HUWE1 | c.7063C= (p.Leu2355=) c.7066C= (p.Leu2356=) c.7039C= (p.Leu2347=) c.7315C= (p.Leu2439=) c.7312C= (p.Leu2438=) n.7750C= c.7447C= (p.Leu2483=) c.7444C= (p.Leu2482=) c.7426C= (p.Leu2476=) c.7336C= (p.Leu2446=) c.7198C= (p.Leu2400=) | |
| X | g.53563785G>T | CA413160961 | HUWE1 | c.7063C>A (p.Leu2355Ile) c.7066C>A (p.Leu2356Ile) c.7039C>A (p.Leu2347Ile) c.7315C>A (p.Leu2439Ile) c.7312C>A (p.Leu2438Ile) n.7750C>A c.7447C>A (p.Leu2483Ile) c.7444C>A (p.Leu2482Ile) c.7426C>A (p.Leu2476Ile) c.7336C>A (p.Leu2446Ile) c.7198C>A (p.Leu2400Ile) |