| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.13283650C>G | CA2608290837 | PHYH | c.828+40G>C (n.828+40G>C) c.528+40G>C (n.528+40G>C) c.777+40G>C (n.777+40G>C) c.609+40G>C (n.609+40G>C) c.834+40G>C (n.834+40G>C) c.564+40G>C (n.564+40G>C) c.534+40G>C (n.534+40G>C) | gnomAD v4 |
| 10 | g.13283650C>T | CA2608290838 | PHYH | c.828+40G>A (n.828+40G>A) c.528+40G>A (n.528+40G>A) c.777+40G>A (n.777+40G>A) c.609+40G>A (n.609+40G>A) c.834+40G>A (n.834+40G>A) c.564+40G>A (n.564+40G>A) c.534+40G>A (n.534+40G>A) | gnomAD v4 |
| 10 | g.13283654C>T | CA2608290839 | PHYH | c.828+36G>A (n.828+36G>A) c.528+36G>A (n.528+36G>A) c.777+36G>A (n.777+36G>A) c.609+36G>A (n.609+36G>A) c.834+36G>A (n.834+36G>A) c.564+36G>A (n.564+36G>A) c.534+36G>A (n.534+36G>A) | gnomAD v4 |
| 10 | g.13283655A= | CA1891546345 | PHYH | c.828+35T= (n.828+35T=) c.528+35T= (n.528+35T=) c.777+35T= (n.777+35T=) c.609+35T= (n.609+35T=) c.834+35T= (n.834+35T=) c.564+35T= (n.564+35T=) c.534+35T= (n.534+35T=) | |
| 10 | g.13283655A>G | CA1891546347 | PHYH | c.828+35T>C (n.828+35T>C) c.528+35T>C (n.528+35T>C) c.777+35T>C (n.777+35T>C) c.609+35T>C (n.609+35T>C) c.834+35T>C (n.834+35T>C) c.564+35T>C (n.564+35T>C) c.534+35T>C (n.534+35T>C) | dbSNP gnomAD v4 |
| 10 | g.13283655A>T | CA925077120 | PHYH | c.828+35T>A (n.828+35T>A) c.528+35T>A (n.528+35T>A) c.777+35T>A (n.777+35T>A) c.609+35T>A (n.609+35T>A) c.834+35T>A (n.834+35T>A) c.564+35T>A (n.564+35T>A) c.534+35T>A (n.534+35T>A) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.13283658T>C | CA5412233 | PHYH | c.828+32A>G (n.828+32A>G) c.528+32A>G (n.528+32A>G) c.777+32A>G (n.777+32A>G) c.609+32A>G (n.609+32A>G) c.834+32A>G (n.834+32A>G) c.564+32A>G (n.564+32A>G) c.534+32A>G (n.534+32A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.13283658T= | CA1891546349 | PHYH | c.828+32A= (n.828+32A=) c.528+32A= (n.528+32A=) c.777+32A= (n.777+32A=) c.609+32A= (n.609+32A=) c.834+32A= (n.834+32A=) c.564+32A= (n.564+32A=) c.534+32A= (n.534+32A=) | |
| 10 | g.13283660_13283662del | CA2608290840 | PHYH | c.828+29_828+31del (n.828+29_828+31del) c.528+29_528+31del (n.528+29_528+31del) c.777+29_777+31del (n.777+29_777+31del) c.609+29_609+31del (n.609+29_609+31del) c.834+29_834+31del (n.834+29_834+31del) c.564+29_564+31del (n.564+29_564+31del) c.534+29_534+31del (n.534+29_534+31del) | gnomAD v4 |
| 10 | g.13283660T>A | CA2608290841 | PHYH | c.828+30A>T (n.828+30A>T) c.528+30A>T (n.528+30A>T) c.777+30A>T (n.777+30A>T) c.609+30A>T (n.609+30A>T) c.834+30A>T (n.834+30A>T) c.564+30A>T (n.564+30A>T) c.534+30A>T (n.534+30A>T) | gnomAD v4 |
| 10 | g.13283667_13283675del | CA2786697221 | PHYH | c.828+22_828+30del (n.828+22_828+30del) c.528+22_528+30del (n.528+22_528+30del) c.777+22_777+30del (n.777+22_777+30del) c.609+22_609+30del (n.609+22_609+30del) c.834+22_834+30del (n.834+22_834+30del) c.564+22_564+30del (n.564+22_564+30del) c.534+22_534+30del (n.534+22_534+30del) | |
| 10 | g.13283662C= | CA1891546352 | PHYH | c.828+28G= (n.828+28G=) c.528+28G= (n.528+28G=) c.777+28G= (n.777+28G=) c.609+28G= (n.609+28G=) c.834+28G= (n.834+28G=) c.564+28G= (n.564+28G=) c.534+28G= (n.534+28G=) | |
| 10 | g.13283662C>G | CA203276184 | PHYH | c.828+28G>C (n.828+28G>C) c.528+28G>C (n.528+28G>C) c.777+28G>C (n.777+28G>C) c.609+28G>C (n.609+28G>C) c.834+28G>C (n.834+28G>C) c.564+28G>C (n.564+28G>C) c.534+28G>C (n.534+28G>C) | dbSNP gnomAD v4 |
| 10 | g.13283663A= | CA1891546355 | PHYH | c.828+27T= (n.828+27T=) c.528+27T= (n.528+27T=) c.777+27T= (n.777+27T=) c.609+27T= (n.609+27T=) c.834+27T= (n.834+27T=) c.564+27T= (n.564+27T=) c.534+27T= (n.534+27T=) | |
| 10 | g.13283663A>G | CA5412234 | PHYH | c.828+27T>C (n.828+27T>C) c.528+27T>C (n.528+27T>C) c.777+27T>C (n.777+27T>C) c.609+27T>C (n.609+27T>C) c.834+27T>C (n.834+27T>C) c.564+27T>C (n.564+27T>C) c.534+27T>C (n.534+27T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.13283663A>T | CA2608290842 | PHYH | c.828+27T>A (n.828+27T>A) c.528+27T>A (n.528+27T>A) c.777+27T>A (n.777+27T>A) c.609+27T>A (n.609+27T>A) c.834+27T>A (n.834+27T>A) c.564+27T>A (n.564+27T>A) c.534+27T>A (n.534+27T>A) | gnomAD v4 |
| 10 | g.13283664G= | CA1891546358 | PHYH | c.828+26C= (n.828+26C=) c.528+26C= (n.528+26C=) c.777+26C= (n.777+26C=) c.609+26C= (n.609+26C=) c.834+26C= (n.834+26C=) c.564+26C= (n.564+26C=) c.534+26C= (n.534+26C=) | |
| 10 | g.13283664G>T | CA5412235 | PHYH | c.828+26C>A (n.828+26C>A) c.528+26C>A (n.528+26C>A) c.777+26C>A (n.777+26C>A) c.609+26C>A (n.609+26C>A) c.834+26C>A (n.834+26C>A) c.564+26C>A (n.564+26C>A) c.534+26C>A (n.534+26C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.13283665C>G | CA2608290843 | PHYH | c.828+25G>C (n.828+25G>C) c.528+25G>C (n.528+25G>C) c.777+25G>C (n.777+25G>C) c.609+25G>C (n.609+25G>C) c.834+25G>C (n.834+25G>C) c.564+25G>C (n.564+25G>C) c.534+25G>C (n.534+25G>C) | gnomAD v4 |
| 10 | g.13283665C>T | CA2608290844 | PHYH | c.828+25G>A (n.828+25G>A) c.528+25G>A (n.528+25G>A) c.777+25G>A (n.777+25G>A) c.609+25G>A (n.609+25G>A) c.834+25G>A (n.834+25G>A) c.564+25G>A (n.564+25G>A) c.534+25G>A (n.534+25G>A) | gnomAD v4 |
| 10 | g.13283667G>C | CA2608290845 | PHYH | c.828+23C>G (n.828+23C>G) c.528+23C>G (n.528+23C>G) c.777+23C>G (n.777+23C>G) c.609+23C>G (n.609+23C>G) c.834+23C>G (n.834+23C>G) c.564+23C>G (n.564+23C>G) c.534+23C>G (n.534+23C>G) | gnomAD v4 |
| 10 | g.13283668G>A | CA592075130 | PHYH | c.828+22C>T (n.828+22C>T) c.528+22C>T (n.528+22C>T) c.777+22C>T (n.777+22C>T) c.609+22C>T (n.609+22C>T) c.834+22C>T (n.834+22C>T) c.564+22C>T (n.564+22C>T) c.534+22C>T (n.534+22C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.13283668G= | CA1891546361 | PHYH | c.828+22C= (n.828+22C=) c.528+22C= (n.528+22C=) c.777+22C= (n.777+22C=) c.609+22C= (n.609+22C=) c.834+22C= (n.834+22C=) c.564+22C= (n.564+22C=) c.534+22C= (n.534+22C=) | |
| 10 | g.13283668G>T | CA1891546362 | PHYH | c.828+22C>A (n.828+22C>A) c.528+22C>A (n.528+22C>A) c.777+22C>A (n.777+22C>A) c.609+22C>A (n.609+22C>A) c.834+22C>A (n.834+22C>A) c.564+22C>A (n.564+22C>A) c.534+22C>A (n.534+22C>A) | dbSNP gnomAD v4 |
| 10 | g.13283669T>G | CA2608290846 | PHYH | c.828+21A>C (n.828+21A>C) c.528+21A>C (n.528+21A>C) c.777+21A>C (n.777+21A>C) c.609+21A>C (n.609+21A>C) c.834+21A>C (n.834+21A>C) c.564+21A>C (n.564+21A>C) c.534+21A>C (n.534+21A>C) | gnomAD v4 |
| 10 | g.13283670G>A | CA203276192 | PHYH | c.828+20C>T (n.828+20C>T) c.528+20C>T (n.528+20C>T) c.777+20C>T (n.777+20C>T) c.609+20C>T (n.609+20C>T) c.834+20C>T (n.834+20C>T) c.564+20C>T (n.564+20C>T) c.534+20C>T (n.534+20C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.13283670G>C | CA5412236 | PHYH | c.828+20C>G (n.828+20C>G) c.528+20C>G (n.528+20C>G) c.777+20C>G (n.777+20C>G) c.609+20C>G (n.609+20C>G) c.834+20C>G (n.834+20C>G) c.564+20C>G (n.564+20C>G) c.534+20C>G (n.534+20C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.13283670G= | CA1891546364 | PHYH | c.828+20C= (n.828+20C=) c.528+20C= (n.528+20C=) c.777+20C= (n.777+20C=) c.609+20C= (n.609+20C=) c.834+20C= (n.834+20C=) c.564+20C= (n.564+20C=) c.534+20C= (n.534+20C=) | |
| 10 | g.13283671C>A | CA203276209 | PHYH | c.828+19G>T (n.828+19G>T) c.528+19G>T (n.528+19G>T) c.777+19G>T (n.777+19G>T) c.609+19G>T (n.609+19G>T) c.834+19G>T (n.834+19G>T) c.564+19G>T (n.564+19G>T) c.534+19G>T (n.534+19G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.13283671C= | CA1891546367 | PHYH | c.828+19G= (n.828+19G=) c.528+19G= (n.528+19G=) c.777+19G= (n.777+19G=) c.609+19G= (n.609+19G=) c.834+19G= (n.834+19G=) c.564+19G= (n.564+19G=) c.534+19G= (n.534+19G=) | |
| 10 | g.13283671C>G | CA2608290847 | PHYH | c.828+19G>C (n.828+19G>C) c.528+19G>C (n.528+19G>C) c.777+19G>C (n.777+19G>C) c.609+19G>C (n.609+19G>C) c.834+19G>C (n.834+19G>C) c.564+19G>C (n.564+19G>C) c.534+19G>C (n.534+19G>C) | gnomAD v4 |
| 10 | g.13283671C>T | CA2608290848 | PHYH | c.828+19G>A (n.828+19G>A) c.528+19G>A (n.528+19G>A) c.777+19G>A (n.777+19G>A) c.609+19G>A (n.609+19G>A) c.834+19G>A (n.834+19G>A) c.564+19G>A (n.564+19G>A) c.534+19G>A (n.534+19G>A) | gnomAD v4 |
| 10 | g.13283673G>A | CA592075134 | PHYH | c.828+17C>T (n.828+17C>T) c.528+17C>T (n.528+17C>T) c.777+17C>T (n.777+17C>T) c.609+17C>T (n.609+17C>T) c.834+17C>T (n.834+17C>T) c.564+17C>T (n.564+17C>T) c.534+17C>T (n.534+17C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.13283673G= | CA1891546370 | PHYH | c.828+17C= (n.828+17C=) c.528+17C= (n.528+17C=) c.777+17C= (n.777+17C=) c.609+17C= (n.609+17C=) c.834+17C= (n.834+17C=) c.564+17C= (n.564+17C=) c.534+17C= (n.534+17C=) | |
| 10 | g.13283673_13283674insGGCACCGCCACCGGCGCCGAGGAACACGAACTTCGCGTTGATGGTCAGCGGCTCTTCCTTGTTGATGCGGTTAATCGCGTCAACGGTCCAGGAGCCGTTGGACTCGCGGTT | CA2786697222 | PHYH | c.828+16_828+17insAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATCAACGCGAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC (n.828+16_828+17insAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATCAACGCGAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC) c.528+16_528+17insAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATCAACGCGAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC (n.528+16_528+17insAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATCAACGCGAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC) c.777+16_777+17insAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATCAACGCGAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC (n.777+16_777+17insAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATCAACGCGAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC) c.609+16_609+17insAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATCAACGCGAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC (n.609+16_609+17insAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATCAACGCGAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC) c.834+16_834+17insAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATCAACGCGAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC (n.834+16_834+17insAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATCAACGCGAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC) c.564+16_564+17insAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATCAACGCGAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC (n.564+16_564+17insAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATCAACGCGAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC) c.534+16_534+17insAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATCAACGCGAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC (n.534+16_534+17insAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATCAACGCGAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC) | |
| 10 | g.13283673_13283674insGGCACCGCCACCGGCGCCGAGGAACACGAACTTTGCGTTGATGGTCAGCGGCTCTTCCTTGTTGATGCGGTTGATAGCGTCAACGGTCCAGGAGCCGTTGGACTCGCGGTTCAGGTTGGTGACCTGGTAGC | CA2520371421 | PHYH | c.828+16_828+17insGCTACCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCTATCAACCGCATCAACAAGGAAGAGCCGCTGACCATCAACGCAAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC (n.828+16_828+17insGCTACCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCTATCAACCGCATCAACAAGGAAGAGCCGCTGACCATCAACGCAAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC) c.528+16_528+17insGCTACCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCTATCAACCGCATCAACAAGGAAGAGCCGCTGACCATCAACGCAAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC (n.528+16_528+17insGCTACCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCTATCAACCGCATCAACAAGGAAGAGCCGCTGACCATCAACGCAAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC) c.777+16_777+17insGCTACCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCTATCAACCGCATCAACAAGGAAGAGCCGCTGACCATCAACGCAAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC (n.777+16_777+17insGCTACCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCTATCAACCGCATCAACAAGGAAGAGCCGCTGACCATCAACGCAAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC) c.609+16_609+17insGCTACCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCTATCAACCGCATCAACAAGGAAGAGCCGCTGACCATCAACGCAAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC (n.609+16_609+17insGCTACCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCTATCAACCGCATCAACAAGGAAGAGCCGCTGACCATCAACGCAAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC) c.834+16_834+17insGCTACCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCTATCAACCGCATCAACAAGGAAGAGCCGCTGACCATCAACGCAAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC (n.834+16_834+17insGCTACCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCTATCAACCGCATCAACAAGGAAGAGCCGCTGACCATCAACGCAAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC) c.564+16_564+17insGCTACCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCTATCAACCGCATCAACAAGGAAGAGCCGCTGACCATCAACGCAAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC (n.564+16_564+17insGCTACCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCTATCAACCGCATCAACAAGGAAGAGCCGCTGACCATCAACGCAAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC) c.534+16_534+17insGCTACCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCTATCAACCGCATCAACAAGGAAGAGCCGCTGACCATCAACGCAAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC (n.534+16_534+17insGCTACCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCTATCAACCGCATCAACAAGGAAGAGCCGCTGACCATCAACGCAAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC) | |
| 10 | g.13283673_13283674insGGCACCGCCACCGGCGCCGAGGAACACGAACTTAGCGTTAATGGTCAGCGGCTCTTCCTTGTTGATGCGGTTAATCGCGTCAACGGTCCAGGAGCCGTTGGACTCGCGGTTCAGGTTGGTGACCTGATAGC | CA2500658932 | PHYH | c.828+16_828+17insGCTATCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATTAACGCTAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC (n.828+16_828+17insGCTATCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATTAACGCTAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC) c.528+16_528+17insGCTATCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATTAACGCTAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC (n.528+16_528+17insGCTATCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATTAACGCTAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC) c.777+16_777+17insGCTATCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATTAACGCTAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC (n.777+16_777+17insGCTATCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATTAACGCTAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC) c.609+16_609+17insGCTATCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATTAACGCTAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC (n.609+16_609+17insGCTATCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATTAACGCTAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC) c.834+16_834+17insGCTATCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATTAACGCTAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC (n.834+16_834+17insGCTATCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATTAACGCTAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC) c.564+16_564+17insGCTATCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATTAACGCTAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC (n.564+16_564+17insGCTATCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATTAACGCTAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC) c.534+16_534+17insGCTATCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATTAACGCTAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC (n.534+16_534+17insGCTATCAGGTCACCAACCTGAACCGCGAGTCCAACGGCTCCTGGACCGTTGACGCGATTAACCGCATCAACAAGGAAGAGCCGCTGACCATTAACGCTAAGTTCGTGTTCCTCGGCGCCGGTGGCGGTGCC) | |
| 10 | g.13283674C>A | CA2574492067 | PHYH | c.828+16G>T (n.828+16G>T) c.528+16G>T (n.528+16G>T) c.777+16G>T (n.777+16G>T) c.609+16G>T (n.609+16G>T) c.834+16G>T (n.834+16G>T) c.564+16G>T (n.564+16G>T) c.534+16G>T (n.534+16G>T) | |
| 10 | g.13283675A>T | CA2574492068 | PHYH | c.828+15T>A (n.828+15T>A) c.528+15T>A (n.528+15T>A) c.777+15T>A (n.777+15T>A) c.609+15T>A (n.609+15T>A) c.834+15T>A (n.834+15T>A) c.564+15T>A (n.564+15T>A) c.534+15T>A (n.534+15T>A) | |
| 10 | g.13283676A= | CA1891546372 | PHYH | c.828+14T= (n.828+14T=) c.528+14T= (n.528+14T=) c.777+14T= (n.777+14T=) c.609+14T= (n.609+14T=) c.834+14T= (n.834+14T=) c.564+14T= (n.564+14T=) c.534+14T= (n.534+14T=) | |
| 10 | g.13283676A>G | CA5412237 | PHYH | c.828+14T>C (n.828+14T>C) c.528+14T>C (n.528+14T>C) c.777+14T>C (n.777+14T>C) c.609+14T>C (n.609+14T>C) c.834+14T>C (n.834+14T>C) c.564+14T>C (n.564+14T>C) c.534+14T>C (n.534+14T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.13283677T>C | CA2608290849 | PHYH | c.828+13A>G (n.828+13A>G) c.528+13A>G (n.528+13A>G) c.777+13A>G (n.777+13A>G) c.609+13A>G (n.609+13A>G) c.834+13A>G (n.834+13A>G) c.564+13A>G (n.564+13A>G) c.534+13A>G (n.534+13A>G) | gnomAD v4 |
| 10 | g.13283680G>A | CA2739265287 | PHYH | c.828+10C>T (n.828+10C>T) c.528+10C>T (n.528+10C>T) c.777+10C>T (n.777+10C>T) c.609+10C>T (n.609+10C>T) c.834+10C>T (n.834+10C>T) c.564+10C>T (n.564+10C>T) c.534+10C>T (n.534+10C>T) | ClinVar |
| 10 | g.13283680G>C | CA2608290850 | PHYH | c.828+10C>G (n.828+10C>G) c.528+10C>G (n.528+10C>G) c.777+10C>G (n.777+10C>G) c.609+10C>G (n.609+10C>G) c.834+10C>G (n.834+10C>G) c.564+10C>G (n.564+10C>G) c.534+10C>G (n.534+10C>G) | gnomAD v4 |
| 10 | g.13283686T>A | CA1139661392 | PHYH | c.828+4A>T (n.828+4A>T) c.528+4A>T (n.528+4A>T) c.777+4A>T (n.777+4A>T) c.609+4A>T (n.609+4A>T) c.834+4A>T (n.834+4A>T) c.564+4A>T (n.564+4A>T) c.534+4A>T (n.534+4A>T) | ClinVar dbSNP |
| 10 | g.13283686T= | CA1891546378 | PHYH | c.828+4A= (n.828+4A=) c.528+4A= (n.528+4A=) c.777+4A= (n.777+4A=) c.609+4A= (n.609+4A=) c.834+4A= (n.834+4A=) c.564+4A= (n.564+4A=) c.534+4A= (n.534+4A=) | |
| 10 | g.13283687T>C | CA2608290851 | PHYH | c.828+3A>G (n.828+3A>G) c.528+3A>G (n.528+3A>G) c.777+3A>G (n.777+3A>G) c.609+3A>G (n.609+3A>G) c.834+3A>G (n.834+3A>G) c.564+3A>G (n.564+3A>G) c.534+3A>G (n.534+3A>G) | gnomAD v4 |
| 10 | g.13283688A>C | CA376034032 | PHYH | c.828+2T>G (n.828+2T>G) c.528+2T>G (n.528+2T>G) c.777+2T>G (n.777+2T>G) c.609+2T>G (n.609+2T>G) c.834+2T>G (n.834+2T>G) c.564+2T>G (n.564+2T>G) c.534+2T>G (n.534+2T>G) | |
| 10 | g.13283688A>G | CA376034033 | PHYH | c.828+2T>C (n.828+2T>C) c.528+2T>C (n.528+2T>C) c.777+2T>C (n.777+2T>C) c.609+2T>C (n.609+2T>C) c.834+2T>C (n.834+2T>C) c.564+2T>C (n.564+2T>C) c.534+2T>C (n.534+2T>C) | |
| 10 | g.13283688A>T | CA376034034 | PHYH | c.828+2T>A (n.828+2T>A) c.528+2T>A (n.528+2T>A) c.777+2T>A (n.777+2T>A) c.609+2T>A (n.609+2T>A) c.834+2T>A (n.834+2T>A) c.564+2T>A (n.564+2T>A) c.534+2T>A (n.534+2T>A) | |
| 10 | g.13283689C>A | CA376034037 | PHYH | c.828+1G>T (n.828+1G>T) c.528+1G>T (n.528+1G>T) c.777+1G>T (n.777+1G>T) c.609+1G>T (n.609+1G>T) c.834+1G>T (n.834+1G>T) c.564+1G>T (n.564+1G>T) c.534+1G>T (n.534+1G>T) | |
| 10 | g.13283689C>G | CA376034036 | PHYH | c.828+1G>C (n.828+1G>C) c.528+1G>C (n.528+1G>C) c.777+1G>C (n.777+1G>C) c.609+1G>C (n.609+1G>C) c.834+1G>C (n.834+1G>C) c.564+1G>C (n.564+1G>C) c.534+1G>C (n.534+1G>C) | |
| 10 | g.13283689C>T | CA376034035 | PHYH | c.828+1G>A (n.828+1G>A) c.528+1G>A (n.528+1G>A) c.777+1G>A (n.777+1G>A) c.609+1G>A (n.609+1G>A) c.834+1G>A (n.834+1G>A) c.564+1G>A (n.564+1G>A) c.534+1G>A (n.534+1G>A) | |
| 10 | g.13283690C>A | CA376034038 | PHYH | c.828G>T (p.Lys276Asn) c.528G>T (p.Lys176Asn) c.777G>T (p.Lys259Asn) c.609G>T (p.Lys203Asn) c.834G>T (p.Lys278Asn) c.564G>T (p.Lys188Asn) c.534G>T (p.Lys178Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.13283690C= | CA1891546383 | PHYH | c.828G= (p.Lys276=) c.528G= (p.Lys176=) c.777G= (p.Lys259=) c.609G= (p.Lys203=) c.834G= (p.Lys278=) c.564G= (p.Lys188=) c.534G= (p.Lys178=) | |
| 10 | g.13283690C>G | CA376034039 | PHYH | c.828G>C (p.Lys276Asn) c.528G>C (p.Lys176Asn) c.777G>C (p.Lys259Asn) c.609G>C (p.Lys203Asn) c.834G>C (p.Lys278Asn) c.564G>C (p.Lys188Asn) c.534G>C (p.Lys178Asn) | |
| 10 | g.13283690C>T | CA468236750 | PHYH | c.828G>A (p.Lys276=) c.528G>A (p.Lys176=) c.777G>A (p.Lys259=) c.609G>A (p.Lys203=) c.834G>A (p.Lys278=) c.564G>A (p.Lys188=) c.534G>A (p.Lys178=) | |
| 10 | g.13283691T>A | CA376034040 | PHYH | c.827A>T (p.Lys276Met) c.527A>T (p.Lys176Met) c.776A>T (p.Lys259Met) c.608A>T (p.Lys203Met) c.833A>T (p.Lys278Met) c.563A>T (p.Lys188Met) c.533A>T (p.Lys178Met) | |
| 10 | g.13283691T>C | CA376034041 | PHYH | c.827A>G (p.Lys276Arg) c.527A>G (p.Lys176Arg) c.776A>G (p.Lys259Arg) c.608A>G (p.Lys203Arg) c.833A>G (p.Lys278Arg) c.563A>G (p.Lys188Arg) c.533A>G (p.Lys178Arg) | |
| 10 | g.13283691T>G | CA376034042 | PHYH | c.827A>C (p.Lys276Thr) c.527A>C (p.Lys176Thr) c.776A>C (p.Lys259Thr) c.608A>C (p.Lys203Thr) c.833A>C (p.Lys278Thr) c.563A>C (p.Lys188Thr) c.533A>C (p.Lys178Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.13283691T= | CA1891546388 | PHYH | c.827A= (p.Lys276=) c.527A= (p.Lys176=) c.776A= (p.Lys259=) c.608A= (p.Lys203=) c.833A= (p.Lys278=) c.563A= (p.Lys188=) c.533A= (p.Lys178=) | |
| 10 | g.13283692T>A | CA376034043 | PHYH | c.826A>T (p.Lys276Ter) c.526A>T (p.Lys176Ter) c.775A>T (p.Lys259Ter) c.607A>T (p.Lys203Ter) c.832A>T (p.Lys278Ter) c.562A>T (p.Lys188Ter) c.532A>T (p.Lys178Ter) | |
| 10 | g.13283692T>C | CA376034044 | PHYH | c.826A>G (p.Lys276Glu) c.526A>G (p.Lys176Glu) c.775A>G (p.Lys259Glu) c.607A>G (p.Lys203Glu) c.832A>G (p.Lys278Glu) c.562A>G (p.Lys188Glu) c.532A>G (p.Lys178Glu) | |
| 10 | g.13283692T>G | CA203276238 | PHYH | c.826A>C (p.Lys276Gln) c.526A>C (p.Lys176Gln) c.775A>C (p.Lys259Gln) c.607A>C (p.Lys203Gln) c.832A>C (p.Lys278Gln) c.562A>C (p.Lys188Gln) c.532A>C (p.Lys178Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.13283692T= | CA1891546393 | PHYH | c.826A= (p.Lys276=) c.526A= (p.Lys176=) c.775A= (p.Lys259=) c.607A= (p.Lys203=) c.832A= (p.Lys278=) c.562A= (p.Lys188=) c.532A= (p.Lys178=) | |
| 10 | g.13283693C>A | CA468236759 | PHYH | c.825G>T (p.Arg275=) c.525G>T (p.Arg175=) c.774G>T (p.Arg258=) c.606G>T (p.Arg202=) c.831G>T (p.Arg277=) c.561G>T (p.Arg187=) c.531G>T (p.Arg177=) | |
| 10 | g.13283693C>G | CA468236761 | PHYH | c.825G>C (p.Arg275=) c.525G>C (p.Arg175=) c.774G>C (p.Arg258=) c.606G>C (p.Arg202=) c.831G>C (p.Arg277=) c.561G>C (p.Arg187=) c.531G>C (p.Arg177=) | |
| 10 | g.13283693C>T | CA468236763 | PHYH | c.825G>A (p.Arg275=) c.525G>A (p.Arg175=) c.774G>A (p.Arg258=) c.606G>A (p.Arg202=) c.831G>A (p.Arg277=) c.561G>A (p.Arg187=) c.531G>A (p.Arg177=) | |
| 10 | g.13283694C>A | CA376034045 | PHYH | c.824G>T (p.Arg275Leu) c.524G>T (p.Arg175Leu) c.773G>T (p.Arg258Leu) c.605G>T (p.Arg202Leu) c.830G>T (p.Arg277Leu) c.560G>T (p.Arg187Leu) c.530G>T (p.Arg177Leu) | |
| 10 | g.13283694C= | CA1891546398 | PHYH | c.824G= (p.Arg275=) c.524G= (p.Arg175=) c.773G= (p.Arg258=) c.605G= (p.Arg202=) c.830G= (p.Arg277=) c.560G= (p.Arg187=) c.530G= (p.Arg177=) | |
| 10 | g.13283694C>G | CA376034046 | PHYH | c.824G>C (p.Arg275Pro) c.524G>C (p.Arg175Pro) c.773G>C (p.Arg258Pro) c.605G>C (p.Arg202Pro) c.830G>C (p.Arg277Pro) c.560G>C (p.Arg187Pro) c.530G>C (p.Arg177Pro) | |
| 10 | g.13283694C>T | CA118908 | PHYH | c.824G>A (p.Arg275Gln) c.524G>A (p.Arg175Gln) c.773G>A (p.Arg258Gln) c.605G>A (p.Arg202Gln) c.830G>A (p.Arg277Gln) c.560G>A (p.Arg187Gln) c.530G>A (p.Arg177Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.13283695G>A | CA118904 | PHYH | c.823C>T (p.Arg275Trp) c.523C>T (p.Arg175Trp) c.772C>T (p.Arg258Trp) c.604C>T (p.Arg202Trp) c.829C>T (p.Arg277Trp) c.559C>T (p.Arg187Trp) c.529C>T (p.Arg177Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.13283695G>C | CA376034047 | PHYH | c.823C>G (p.Arg275Gly) c.523C>G (p.Arg175Gly) c.772C>G (p.Arg258Gly) c.604C>G (p.Arg202Gly) c.829C>G (p.Arg277Gly) c.559C>G (p.Arg187Gly) c.529C>G (p.Arg177Gly) | |
| 10 | g.13283695G= | CA1891546399 | PHYH | c.823C= (p.Arg275=) c.523C= (p.Arg175=) c.772C= (p.Arg258=) c.604C= (p.Arg202=) c.829C= (p.Arg277=) c.559C= (p.Arg187=) c.529C= (p.Arg177=) | |
| 10 | g.13283695G>T | CA468236768 | PHYH | c.823C>A (p.Arg275=) c.523C>A (p.Arg175=) c.772C>A (p.Arg258=) c.604C>A (p.Arg202=) c.829C>A (p.Arg277=) c.559C>A (p.Arg187=) c.529C>A (p.Arg177=) | COSMIC |
| 10 | g.13283696G>A | CA468236770 | PHYH | c.822C>T (p.Phe274=) c.522C>T (p.Phe174=) c.771C>T (p.Phe257=) c.603C>T (p.Phe201=) c.828C>T (p.Phe276=) c.558C>T (p.Phe186=) c.528C>T (p.Phe176=) | |
| 10 | g.13283696G>C | CA376034049 | PHYH | c.822C>G (p.Phe274Leu) c.522C>G (p.Phe174Leu) c.771C>G (p.Phe257Leu) c.603C>G (p.Phe201Leu) c.828C>G (p.Phe276Leu) c.558C>G (p.Phe186Leu) c.528C>G (p.Phe176Leu) | |
| 10 | g.13283696G>T | CA376034048 | PHYH | c.822C>A (p.Phe274Leu) c.522C>A (p.Phe174Leu) c.771C>A (p.Phe257Leu) c.603C>A (p.Phe201Leu) c.828C>A (p.Phe276Leu) c.558C>A (p.Phe186Leu) c.528C>A (p.Phe176Leu) | |
| 10 | g.13283697A>C | CA376034050 | PHYH | c.821T>G (p.Phe274Cys) c.521T>G (p.Phe174Cys) c.770T>G (p.Phe257Cys) c.602T>G (p.Phe201Cys) c.827T>G (p.Phe276Cys) c.557T>G (p.Phe186Cys) c.527T>G (p.Phe176Cys) | |
| 10 | g.13283697A>G | CA376034051 | PHYH | c.821T>C (p.Phe274Ser) c.521T>C (p.Phe174Ser) c.770T>C (p.Phe257Ser) c.602T>C (p.Phe201Ser) c.827T>C (p.Phe276Ser) c.557T>C (p.Phe186Ser) c.527T>C (p.Phe176Ser) | |
| 10 | g.13283697A>T | CA376034052 | PHYH | c.821T>A (p.Phe274Tyr) c.521T>A (p.Phe174Tyr) c.770T>A (p.Phe257Tyr) c.602T>A (p.Phe201Tyr) c.827T>A (p.Phe276Tyr) c.557T>A (p.Phe186Tyr) c.527T>A (p.Phe176Tyr) | |
| 10 | g.13283698A= | CA1891546402 | PHYH | c.820T= (p.Phe274=) c.520T= (p.Phe174=) c.769T= (p.Phe257=) c.601T= (p.Phe201=) c.826T= (p.Phe276=) c.556T= (p.Phe186=) c.526T= (p.Phe176=) | |
| 10 | g.13283698A>C | CA376034053 | PHYH | c.820T>G (p.Phe274Val) c.520T>G (p.Phe174Val) c.769T>G (p.Phe257Val) c.601T>G (p.Phe201Val) c.826T>G (p.Phe276Val) c.556T>G (p.Phe186Val) c.526T>G (p.Phe176Val) | |
| 10 | g.13283698A>G | CA376034054 | PHYH | c.820T>C (p.Phe274Leu) c.520T>C (p.Phe174Leu) c.769T>C (p.Phe257Leu) c.601T>C (p.Phe201Leu) c.826T>C (p.Phe276Leu) c.556T>C (p.Phe186Leu) c.526T>C (p.Phe176Leu) | dbSNP gnomAD v4 |
| 10 | g.13283698A>T | CA376034055 | PHYH | c.820T>A (p.Phe274Ile) c.520T>A (p.Phe174Ile) c.769T>A (p.Phe257Ile) c.601T>A (p.Phe201Ile) c.826T>A (p.Phe276Ile) c.556T>A (p.Phe186Ile) c.526T>A (p.Phe176Ile) | |
| 10 | g.13283699T>A | CA468236780 | PHYH | c.819A>T (p.Gly273=) c.519A>T (p.Gly173=) c.768A>T (p.Gly256=) c.600A>T (p.Gly200=) c.825A>T (p.Gly275=) c.555A>T (p.Gly185=) c.525A>T (p.Gly175=) | |
| 10 | g.13283699T>C | CA468236783 | PHYH | c.819A>G (p.Gly273=) c.519A>G (p.Gly173=) c.768A>G (p.Gly256=) c.600A>G (p.Gly200=) c.825A>G (p.Gly275=) c.555A>G (p.Gly185=) c.525A>G (p.Gly175=) | |
| 10 | g.13283699T>G | CA468236782 | PHYH | c.819A>C (p.Gly273=) c.519A>C (p.Gly173=) c.768A>C (p.Gly256=) c.600A>C (p.Gly200=) c.825A>C (p.Gly275=) c.555A>C (p.Gly185=) c.525A>C (p.Gly175=) | |
| 10 | g.13283700C>A | CA5412238 | PHYH | c.818G>T (p.Gly273Val) c.518G>T (p.Gly173Val) c.767G>T (p.Gly256Val) c.599G>T (p.Gly200Val) c.824G>T (p.Gly275Val) c.554G>T (p.Gly185Val) c.524G>T (p.Gly175Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.13283700C= | CA1891546405 | PHYH | c.818G= (p.Gly273=) c.518G= (p.Gly173=) c.767G= (p.Gly256=) c.599G= (p.Gly200=) c.824G= (p.Gly275=) c.554G= (p.Gly185=) c.524G= (p.Gly175=) | |
| 10 | g.13283700C>G | CA376034056 | PHYH | c.818G>C (p.Gly273Ala) c.518G>C (p.Gly173Ala) c.767G>C (p.Gly256Ala) c.599G>C (p.Gly200Ala) c.824G>C (p.Gly275Ala) c.554G>C (p.Gly185Ala) c.524G>C (p.Gly175Ala) | |
| 10 | g.13283700C>T | CA376034057 | PHYH | c.818G>A (p.Gly273Glu) c.518G>A (p.Gly173Glu) c.767G>A (p.Gly256Glu) c.599G>A (p.Gly200Glu) c.824G>A (p.Gly275Glu) c.554G>A (p.Gly185Glu) c.524G>A (p.Gly175Glu) | gnomAD v4 |
| 10 | g.13283701C>A | CA376034058 | PHYH | c.817G>T (p.Gly273Ter) c.517G>T (p.Gly173Ter) c.766G>T (p.Gly256Ter) c.598G>T (p.Gly200Ter) c.823G>T (p.Gly275Ter) c.553G>T (p.Gly185Ter) c.523G>T (p.Gly175Ter) | ClinVar |
| 10 | g.13283701C= | CA1891546410 | PHYH | c.817G= (p.Gly273=) c.517G= (p.Gly173=) c.766G= (p.Gly256=) c.598G= (p.Gly200=) c.823G= (p.Gly275=) c.553G= (p.Gly185=) c.523G= (p.Gly175=) | |
| 10 | g.13283701C>G | CA376034059 | PHYH | c.817G>C (p.Gly273Arg) c.517G>C (p.Gly173Arg) c.766G>C (p.Gly256Arg) c.598G>C (p.Gly200Arg) c.823G>C (p.Gly275Arg) c.553G>C (p.Gly185Arg) c.523G>C (p.Gly175Arg) | |
| 10 | g.13283701C>T | CA5412239 | PHYH | c.817G>A (p.Gly273Arg) c.517G>A (p.Gly173Arg) c.766G>A (p.Gly256Arg) c.598G>A (p.Gly200Arg) c.823G>A (p.Gly275Arg) c.553G>A (p.Gly185Arg) c.523G>A (p.Gly175Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.13283702C>A | CA376034060 | PHYH | c.816G>T (p.Gln272His) c.516G>T (p.Gln172His) c.765G>T (p.Gln255His) c.597G>T (p.Gln199His) c.822G>T (p.Gln274His) c.552G>T (p.Gln184His) c.522G>T (p.Gln174His) | |
| 10 | g.13283702C>G | CA376034061 | PHYH | c.816G>C (p.Gln272His) c.516G>C (p.Gln172His) c.765G>C (p.Gln255His) c.597G>C (p.Gln199His) c.822G>C (p.Gln274His) c.552G>C (p.Gln184His) c.522G>C (p.Gln174His) | |
| 10 | g.13283702C>T | CA468236797 | PHYH | c.816G>A (p.Gln272=) c.516G>A (p.Gln172=) c.765G>A (p.Gln255=) c.597G>A (p.Gln199=) c.822G>A (p.Gln274=) c.552G>A (p.Gln184=) c.522G>A (p.Gln174=) | |
| 10 | g.13283703T>A | CA376034062 | PHYH | c.815A>T (p.Gln272Leu) c.515A>T (p.Gln172Leu) c.764A>T (p.Gln255Leu) c.596A>T (p.Gln199Leu) c.821A>T (p.Gln274Leu) c.551A>T (p.Gln184Leu) c.521A>T (p.Gln174Leu) | ClinVar dbSNP |
| 10 | g.13283703T>C | CA376034064 | PHYH | c.815A>G (p.Gln272Arg) c.515A>G (p.Gln172Arg) c.764A>G (p.Gln255Arg) c.596A>G (p.Gln199Arg) c.821A>G (p.Gln274Arg) c.551A>G (p.Gln184Arg) c.521A>G (p.Gln174Arg) | |
| 10 | g.13283703T>G | CA376034063 | PHYH | c.815A>C (p.Gln272Pro) c.515A>C (p.Gln172Pro) c.764A>C (p.Gln255Pro) c.596A>C (p.Gln199Pro) c.821A>C (p.Gln274Pro) c.551A>C (p.Gln184Pro) c.521A>C (p.Gln174Pro) | |
| 10 | g.13283704G>A | CA376034065 | PHYH | c.814C>T (p.Gln272Ter) c.514C>T (p.Gln172Ter) c.763C>T (p.Gln255Ter) c.595C>T (p.Gln199Ter) c.820C>T (p.Gln274Ter) c.550C>T (p.Gln184Ter) c.520C>T (p.Gln174Ter) | |
| 10 | g.13283704G>C | CA376034066 | PHYH | c.814C>G (p.Gln272Glu) c.514C>G (p.Gln172Glu) c.763C>G (p.Gln255Glu) c.595C>G (p.Gln199Glu) c.820C>G (p.Gln274Glu) c.550C>G (p.Gln184Glu) c.520C>G (p.Gln174Glu) | |
| 10 | g.13283704G>T | CA376034067 | PHYH | c.814C>A (p.Gln272Lys) c.514C>A (p.Gln172Lys) c.763C>A (p.Gln255Lys) c.595C>A (p.Gln199Lys) c.820C>A (p.Gln274Lys) c.550C>A (p.Gln184Lys) c.520C>A (p.Gln174Lys) | |
| 10 | g.13283705G>A | CA468236803 | PHYH | c.813C>T (p.Thr271=) c.513C>T (p.Thr171=) c.762C>T (p.Thr254=) c.594C>T (p.Thr198=) c.819C>T (p.Thr273=) c.549C>T (p.Thr183=) c.519C>T (p.Thr173=) | |
| 10 | g.13283705G>C | CA468236805 | PHYH | c.813C>G (p.Thr271=) c.513C>G (p.Thr171=) c.762C>G (p.Thr254=) c.594C>G (p.Thr198=) c.819C>G (p.Thr273=) c.549C>G (p.Thr183=) c.519C>G (p.Thr173=) | |
| 10 | g.13283705G>T | CA468236806 | PHYH | c.813C>A (p.Thr271=) c.513C>A (p.Thr171=) c.762C>A (p.Thr254=) c.594C>A (p.Thr198=) c.819C>A (p.Thr273=) c.549C>A (p.Thr183=) c.519C>A (p.Thr173=) | |
| 10 | g.13283706G>A | CA376034068 | PHYH | c.812C>T (p.Thr271Ile) c.512C>T (p.Thr171Ile) c.761C>T (p.Thr254Ile) c.593C>T (p.Thr198Ile) c.818C>T (p.Thr273Ile) c.548C>T (p.Thr183Ile) c.518C>T (p.Thr173Ile) | |
| 10 | g.13283706G>C | CA376034069 | PHYH | c.812C>G (p.Thr271Ser) c.512C>G (p.Thr171Ser) c.761C>G (p.Thr254Ser) c.593C>G (p.Thr198Ser) c.818C>G (p.Thr273Ser) c.548C>G (p.Thr183Ser) c.518C>G (p.Thr173Ser) | |
| 10 | g.13283706G= | CA1891546413 | PHYH | c.812C= (p.Thr271=) c.512C= (p.Thr171=) c.761C= (p.Thr254=) c.593C= (p.Thr198=) c.818C= (p.Thr273=) c.548C= (p.Thr183=) c.518C= (p.Thr173=) | |
| 10 | g.13283706G>T | CA376034070 | PHYH | c.812C>A (p.Thr271Asn) c.512C>A (p.Thr171Asn) c.761C>A (p.Thr254Asn) c.593C>A (p.Thr198Asn) c.818C>A (p.Thr273Asn) c.548C>A (p.Thr183Asn) c.518C>A (p.Thr173Asn) | dbSNP gnomAD v4 |
| 10 | g.13283707T>A | CA376034071 | PHYH | c.811A>T (p.Thr271Ser) c.511A>T (p.Thr171Ser) c.760A>T (p.Thr254Ser) c.592A>T (p.Thr198Ser) c.817A>T (p.Thr273Ser) c.547A>T (p.Thr183Ser) c.517A>T (p.Thr173Ser) | |
| 10 | g.13283707T>C | CA376034072 | PHYH | c.811A>G (p.Thr271Ala) c.511A>G (p.Thr171Ala) c.760A>G (p.Thr254Ala) c.592A>G (p.Thr198Ala) c.817A>G (p.Thr273Ala) c.547A>G (p.Thr183Ala) c.517A>G (p.Thr173Ala) | |
| 10 | g.13283707T>G | CA376034073 | PHYH | c.811A>C (p.Thr271Pro) c.511A>C (p.Thr171Pro) c.760A>C (p.Thr254Pro) c.592A>C (p.Thr198Pro) c.817A>C (p.Thr273Pro) c.547A>C (p.Thr183Pro) c.517A>C (p.Thr173Pro) | |
| 10 | g.13283710del | CA2018072149 | PHYH | c.811del (p.Thr271ProfsTer22) c.511del (p.Thr171ProfsTer22) c.760del (p.Thr254ProfsTer22) c.511del (p.Thr171ProfsTer?) c.592del (p.Thr198ProfsTer22) c.817del (p.Thr273ProfsTer22) c.547del (p.Thr183ProfsTer22) c.517del (p.Thr173ProfsTer22) | ClinVar dbSNP |
| 10 | g.13283708T>A | CA376034074 | PHYH | c.810A>T (p.Lys270Asn) c.510A>T (p.Lys170Asn) c.759A>T (p.Lys253Asn) c.591A>T (p.Lys197Asn) c.816A>T (p.Lys272Asn) c.546A>T (p.Lys182Asn) c.516A>T (p.Lys172Asn) | |
| 10 | g.13283708T>C | CA468236815 | PHYH | c.810A>G (p.Lys270=) c.510A>G (p.Lys170=) c.759A>G (p.Lys253=) c.591A>G (p.Lys197=) c.816A>G (p.Lys272=) c.546A>G (p.Lys182=) c.516A>G (p.Lys172=) | |
| 10 | g.13283708T>G | CA376034075 | PHYH | c.810A>C (p.Lys270Asn) c.510A>C (p.Lys170Asn) c.759A>C (p.Lys253Asn) c.591A>C (p.Lys197Asn) c.816A>C (p.Lys272Asn) c.546A>C (p.Lys182Asn) c.516A>C (p.Lys172Asn) | |
| 10 | g.13283709T>A | CA376034078 | PHYH | c.809A>T (p.Lys270Ile) c.509A>T (p.Lys170Ile) c.758A>T (p.Lys253Ile) c.590A>T (p.Lys197Ile) c.815A>T (p.Lys272Ile) c.545A>T (p.Lys182Ile) c.515A>T (p.Lys172Ile) | |
| 10 | g.13283709T>C | CA376034077 | PHYH | c.809A>G (p.Lys270Arg) c.509A>G (p.Lys170Arg) c.758A>G (p.Lys253Arg) c.590A>G (p.Lys197Arg) c.815A>G (p.Lys272Arg) c.545A>G (p.Lys182Arg) c.515A>G (p.Lys172Arg) | |
| 10 | g.13283709T>G | CA376034076 | PHYH | c.809A>C (p.Lys270Thr) c.509A>C (p.Lys170Thr) c.758A>C (p.Lys253Thr) c.590A>C (p.Lys197Thr) c.815A>C (p.Lys272Thr) c.545A>C (p.Lys182Thr) c.515A>C (p.Lys172Thr) | |
| 10 | g.13283710T>A | CA376034079 | PHYH | c.808A>T (p.Lys270Ter) c.508A>T (p.Lys170Ter) c.757A>T (p.Lys253Ter) c.589A>T (p.Lys197Ter) c.814A>T (p.Lys272Ter) c.544A>T (p.Lys182Ter) c.514A>T (p.Lys172Ter) | |
| 10 | g.13283710T>C | CA376034081 | PHYH | c.808A>G (p.Lys270Glu) c.508A>G (p.Lys170Glu) c.757A>G (p.Lys253Glu) c.589A>G (p.Lys197Glu) c.814A>G (p.Lys272Glu) c.544A>G (p.Lys182Glu) c.514A>G (p.Lys172Glu) | |
| 10 | g.13283710T>G | CA376034080 | PHYH | c.808A>C (p.Lys270Gln) c.508A>C (p.Lys170Gln) c.757A>C (p.Lys253Gln) c.589A>C (p.Lys197Gln) c.814A>C (p.Lys272Gln) c.544A>C (p.Lys182Gln) c.514A>C (p.Lys172Gln) | |
| 10 | g.13283711A= | CA1891546415 | PHYH | c.807T= (p.Asn269=) c.507T= (p.Asn169=) c.756T= (p.Asn252=) c.588T= (p.Asn196=) c.813T= (p.Asn271=) c.543T= (p.Asn181=) c.513T= (p.Asn171=) | |
| 10 | g.13283711A>C | CA376034082 | PHYH | c.807T>G (p.Asn269Lys) c.507T>G (p.Asn169Lys) c.756T>G (p.Asn252Lys) c.588T>G (p.Asn196Lys) c.813T>G (p.Asn271Lys) c.543T>G (p.Asn181Lys) c.513T>G (p.Asn171Lys) | |
| 10 | g.13283711A>G | CA468236824 | PHYH | c.807T>C (p.Asn269=) c.507T>C (p.Asn169=) c.756T>C (p.Asn252=) c.588T>C (p.Asn196=) c.813T>C (p.Asn271=) c.543T>C (p.Asn181=) c.513T>C (p.Asn171=) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.13283711A>T | CA376034083 | PHYH | c.807T>A (p.Asn269Lys) c.507T>A (p.Asn169Lys) c.756T>A (p.Asn252Lys) c.588T>A (p.Asn196Lys) c.813T>A (p.Asn271Lys) c.543T>A (p.Asn181Lys) c.513T>A (p.Asn171Lys) | |
| 10 | g.13283712T>A | CA376034084 | PHYH | c.806A>T (p.Asn269Ile) c.506A>T (p.Asn169Ile) c.755A>T (p.Asn252Ile) c.587A>T (p.Asn196Ile) c.812A>T (p.Asn271Ile) c.542A>T (p.Asn181Ile) c.512A>T (p.Asn171Ile) | |
| 10 | g.13283712T>C | CA376034085 | PHYH | c.806A>G (p.Asn269Ser) c.506A>G (p.Asn169Ser) c.755A>G (p.Asn252Ser) c.587A>G (p.Asn196Ser) c.812A>G (p.Asn271Ser) c.542A>G (p.Asn181Ser) c.512A>G (p.Asn171Ser) | |
| 10 | g.13283712T>G | CA376034086 | PHYH | c.806A>C (p.Asn269Thr) c.506A>C (p.Asn169Thr) c.755A>C (p.Asn252Thr) c.587A>C (p.Asn196Thr) c.812A>C (p.Asn271Thr) c.542A>C (p.Asn181Thr) c.512A>C (p.Asn171Thr) | |
| 10 | g.13283713T>A | CA376034087 | PHYH | c.805A>T (p.Asn269Tyr) c.505A>T (p.Asn169Tyr) c.754A>T (p.Asn252Tyr) c.586A>T (p.Asn196Tyr) c.811A>T (p.Asn271Tyr) c.541A>T (p.Asn181Tyr) c.511A>T (p.Asn171Tyr) | |
| 10 | g.13283713T>C | CA376034088 | PHYH | c.805A>G (p.Asn269Asp) c.505A>G (p.Asn169Asp) c.754A>G (p.Asn252Asp) c.586A>G (p.Asn196Asp) c.811A>G (p.Asn271Asp) c.541A>G (p.Asn181Asp) c.511A>G (p.Asn171Asp) | |
| 10 | g.13283713T>G | CA118905 | PHYH | c.805A>C (p.Asn269His) c.505A>C (p.Asn169His) c.754A>C (p.Asn252His) c.586A>C (p.Asn196His) c.811A>C (p.Asn271His) c.541A>C (p.Asn181His) c.511A>C (p.Asn171His) | ClinVar dbSNP gnomAD v4 |
| 10 | g.13283713T= | CA1891546420 | PHYH | c.805A= (p.Asn269=) c.505A= (p.Asn169=) c.754A= (p.Asn252=) c.586A= (p.Asn196=) c.811A= (p.Asn271=) c.541A= (p.Asn181=) c.511A= (p.Asn171=) | |
| 10 | g.13283714C>A | CA376034089 | PHYH | c.804G>T (p.Gln268His) c.504G>T (p.Gln168His) c.753G>T (p.Gln251His) c.585G>T (p.Gln195His) c.810G>T (p.Gln270His) c.540G>T (p.Gln180His) c.510G>T (p.Gln170His) | |
| 10 | g.13283714C>G | CA376034090 | PHYH | c.804G>C (p.Gln268His) c.504G>C (p.Gln168His) c.753G>C (p.Gln251His) c.585G>C (p.Gln195His) c.810G>C (p.Gln270His) c.540G>C (p.Gln180His) c.510G>C (p.Gln170His) | |
| 10 | g.13283714C>T | CA468236832 | PHYH | c.804G>A (p.Gln268=) c.504G>A (p.Gln168=) c.753G>A (p.Gln251=) c.585G>A (p.Gln195=) c.810G>A (p.Gln270=) c.540G>A (p.Gln180=) c.510G>A (p.Gln170=) | |
| 10 | g.13283715T>A | CA376034093 | PHYH | c.803A>T (p.Gln268Leu) c.503A>T (p.Gln168Leu) c.752A>T (p.Gln251Leu) c.584A>T (p.Gln195Leu) c.809A>T (p.Gln270Leu) c.539A>T (p.Gln180Leu) c.509A>T (p.Gln170Leu) | |
| 10 | g.13283715T>C | CA376034092 | PHYH | c.803A>G (p.Gln268Arg) c.503A>G (p.Gln168Arg) c.752A>G (p.Gln251Arg) c.584A>G (p.Gln195Arg) c.809A>G (p.Gln270Arg) c.539A>G (p.Gln180Arg) c.509A>G (p.Gln170Arg) | |
| 10 | g.13283715T>G | CA376034091 | PHYH | c.803A>C (p.Gln268Pro) c.503A>C (p.Gln168Pro) c.752A>C (p.Gln251Pro) c.584A>C (p.Gln195Pro) c.809A>C (p.Gln270Pro) c.539A>C (p.Gln180Pro) c.509A>C (p.Gln170Pro) | |
| 10 | g.13283716G>A | CA376034094 | PHYH | c.802C>T (p.Gln268Ter) c.502C>T (p.Gln168Ter) c.751C>T (p.Gln251Ter) c.583C>T (p.Gln195Ter) c.808C>T (p.Gln270Ter) c.538C>T (p.Gln180Ter) c.508C>T (p.Gln170Ter) | ClinVar gnomAD v4 |
| 10 | g.13283716G>C | CA376034095 | PHYH | c.802C>G (p.Gln268Glu) c.502C>G (p.Gln168Glu) c.751C>G (p.Gln251Glu) c.583C>G (p.Gln195Glu) c.808C>G (p.Gln270Glu) c.538C>G (p.Gln180Glu) c.508C>G (p.Gln170Glu) | |
| 10 | g.13283716G>T | CA376034096 | PHYH | c.802C>A (p.Gln268Lys) c.502C>A (p.Gln168Lys) c.751C>A (p.Gln251Lys) c.583C>A (p.Gln195Lys) c.808C>A (p.Gln270Lys) c.538C>A (p.Gln180Lys) c.508C>A (p.Gln170Lys) | |
| 10 | g.13283717A>C | CA468236835 | PHYH | c.801T>G (p.Gly267=) c.501T>G (p.Gly167=) c.750T>G (p.Gly250=) c.582T>G (p.Gly194=) c.807T>G (p.Gly269=) c.537T>G (p.Gly179=) c.507T>G (p.Gly169=) | |
| 10 | g.13283717A>G | CA468236836 | PHYH | c.801T>C (p.Gly267=) c.501T>C (p.Gly167=) c.750T>C (p.Gly250=) c.582T>C (p.Gly194=) c.807T>C (p.Gly269=) c.537T>C (p.Gly179=) c.507T>C (p.Gly169=) | |
| 10 | g.13283717A>T | CA468236837 | PHYH | c.801T>A (p.Gly267=) c.501T>A (p.Gly167=) c.750T>A (p.Gly250=) c.582T>A (p.Gly194=) c.807T>A (p.Gly269=) c.537T>A (p.Gly179=) c.507T>A (p.Gly169=) | |
| 10 | g.13283717_13283718delinsAC | CA1891546425 | PHYH | c.800_801delinsGT (p.Gly267=) c.500_501delinsGT (p.Gly167=) c.749_750delinsGT (p.Gly250=) c.581_582delinsGT (p.Gly194=) c.806_807delinsGT (p.Gly269=) c.536_537delinsGT (p.Gly179=) c.506_507delinsGT (p.Gly169=) | |
| 10 | g.13283718C>A | CA376034097 | PHYH | c.800G>T (p.Gly267Val) c.500G>T (p.Gly167Val) c.749G>T (p.Gly250Val) c.581G>T (p.Gly194Val) c.806G>T (p.Gly269Val) c.536G>T (p.Gly179Val) c.506G>T (p.Gly169Val) | |
| 10 | g.13283718C>G | CA376034098 | PHYH | c.800G>C (p.Gly267Ala) c.500G>C (p.Gly167Ala) c.749G>C (p.Gly250Ala) c.581G>C (p.Gly194Ala) c.806G>C (p.Gly269Ala) c.536G>C (p.Gly179Ala) c.506G>C (p.Gly169Ala) | |
| 10 | g.13283718C>T | CA376034099 | PHYH | c.800G>A (p.Gly267Asp) c.500G>A (p.Gly167Asp) c.749G>A (p.Gly250Asp) c.581G>A (p.Gly194Asp) c.806G>A (p.Gly269Asp) c.536G>A (p.Gly179Asp) c.506G>A (p.Gly169Asp) | |
| 10 | g.13283719del | CA592075150 | PHYH | c.800del (p.Gly267ValfsTer26) c.500del (p.Gly167ValfsTer26) c.749del (p.Gly250ValfsTer26) c.500del (p.Gly167ValfsTer?) c.581del (p.Gly194ValfsTer26) c.806del (p.Gly269ValfsTer26) c.536del (p.Gly179ValfsTer26) c.506del (p.Gly169ValfsTer26) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.13283719C>A | CA376034100 | PHYH | c.799G>T (p.Gly267Cys) c.499G>T (p.Gly167Cys) c.748G>T (p.Gly250Cys) c.580G>T (p.Gly194Cys) c.805G>T (p.Gly269Cys) c.535G>T (p.Gly179Cys) c.505G>T (p.Gly169Cys) | |
| 10 | g.13283719C= | CA1891546429 | PHYH | c.799G= (p.Gly267=) c.499G= (p.Gly167=) c.748G= (p.Gly250=) c.580G= (p.Gly194=) c.805G= (p.Gly269=) c.535G= (p.Gly179=) c.505G= (p.Gly169=) | |
| 10 | g.13283719C>G | CA376034101 | PHYH | c.799G>C (p.Gly267Arg) c.499G>C (p.Gly167Arg) c.748G>C (p.Gly250Arg) c.580G>C (p.Gly194Arg) c.805G>C (p.Gly269Arg) c.535G>C (p.Gly179Arg) c.505G>C (p.Gly169Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.13283719C>T | CA376034102 | PHYH | c.799G>A (p.Gly267Ser) c.499G>A (p.Gly167Ser) c.748G>A (p.Gly250Ser) c.580G>A (p.Gly194Ser) c.805G>A (p.Gly269Ser) c.535G>A (p.Gly179Ser) c.505G>A (p.Gly169Ser) | |
| 10 | g.13283720A>C | CA468236843 | PHYH | c.798T>G (p.Ser266=) c.498T>G (p.Ser166=) c.747T>G (p.Ser249=) c.579T>G (p.Ser193=) c.804T>G (p.Ser268=) c.534T>G (p.Ser178=) c.504T>G (p.Ser168=) | |
| 10 | g.13283720A>G | CA468236846 | PHYH | c.798T>C (p.Ser266=) c.498T>C (p.Ser166=) c.747T>C (p.Ser249=) c.579T>C (p.Ser193=) c.804T>C (p.Ser268=) c.534T>C (p.Ser178=) c.504T>C (p.Ser168=) | |
| 10 | g.13283720A>T | CA468236847 | PHYH | c.798T>A (p.Ser266=) c.498T>A (p.Ser166=) c.747T>A (p.Ser249=) c.579T>A (p.Ser193=) c.804T>A (p.Ser268=) c.534T>A (p.Ser178=) c.504T>A (p.Ser168=) | |
| 10 | g.13283721G>A | CA376034103 | PHYH | c.797C>T (p.Ser266Phe) c.497C>T (p.Ser166Phe) c.746C>T (p.Ser249Phe) c.578C>T (p.Ser193Phe) c.803C>T (p.Ser268Phe) c.533C>T (p.Ser178Phe) c.503C>T (p.Ser168Phe) | |
| 10 | g.13283721G>C | CA376034104 | PHYH | c.797C>G (p.Ser266Cys) c.497C>G (p.Ser166Cys) c.746C>G (p.Ser249Cys) c.578C>G (p.Ser193Cys) c.803C>G (p.Ser268Cys) c.533C>G (p.Ser178Cys) c.503C>G (p.Ser168Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.13283721G= | CA1891546433 | PHYH | c.797C= (p.Ser266=) c.497C= (p.Ser166=) c.746C= (p.Ser249=) c.578C= (p.Ser193=) c.803C= (p.Ser268=) c.533C= (p.Ser178=) c.503C= (p.Ser168=) | |
| 10 | g.13283721G>T | CA376034105 | PHYH | c.797C>A (p.Ser266Tyr) c.497C>A (p.Ser166Tyr) c.746C>A (p.Ser249Tyr) c.578C>A (p.Ser193Tyr) c.803C>A (p.Ser268Tyr) c.533C>A (p.Ser178Tyr) c.503C>A (p.Ser168Tyr) | |
| 10 | g.13283722A>C | CA376034107 | PHYH | c.796T>G (p.Ser266Ala) c.496T>G (p.Ser166Ala) c.745T>G (p.Ser249Ala) c.577T>G (p.Ser193Ala) c.802T>G (p.Ser268Ala) c.532T>G (p.Ser178Ala) c.502T>G (p.Ser168Ala) | |
| 10 | g.13283722A>G | CA376034108 | PHYH | c.796T>C (p.Ser266Pro) c.496T>C (p.Ser166Pro) c.745T>C (p.Ser249Pro) c.577T>C (p.Ser193Pro) c.802T>C (p.Ser268Pro) c.532T>C (p.Ser178Pro) c.502T>C (p.Ser168Pro) | |
| 10 | g.13283722A>T | CA376034106 | PHYH | c.796T>A (p.Ser266Thr) c.496T>A (p.Ser166Thr) c.745T>A (p.Ser249Thr) c.577T>A (p.Ser193Thr) c.802T>A (p.Ser268Thr) c.532T>A (p.Ser178Thr) c.502T>A (p.Ser168Thr) | |
| 10 | g.13283723T>A | CA468236853 | PHYH | c.795A>T (p.Gly265=) c.495A>T (p.Gly165=) c.744A>T (p.Gly248=) c.576A>T (p.Gly192=) c.801A>T (p.Gly267=) c.531A>T (p.Gly177=) c.501A>T (p.Gly167=) | |
| 10 | g.13283723T>C | CA468236855 | PHYH | c.795A>G (p.Gly265=) c.495A>G (p.Gly165=) c.744A>G (p.Gly248=) c.576A>G (p.Gly192=) c.801A>G (p.Gly267=) c.531A>G (p.Gly177=) c.501A>G (p.Gly167=) | |
| 10 | g.13283723T>G | CA5412240 | PHYH | c.795A>C (p.Gly265=) c.495A>C (p.Gly165=) c.744A>C (p.Gly248=) c.576A>C (p.Gly192=) c.801A>C (p.Gly267=) c.531A>C (p.Gly177=) c.501A>C (p.Gly167=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.13283723T= | CA1891546435 | PHYH | c.795A= (p.Gly265=) c.495A= (p.Gly165=) c.744A= (p.Gly248=) c.576A= (p.Gly192=) c.801A= (p.Gly267=) c.531A= (p.Gly177=) c.501A= (p.Gly167=) | |
| 10 | g.13283724C>A | CA376034109 | PHYH | c.794G>T (p.Gly265Val) c.494G>T (p.Gly165Val) c.743G>T (p.Gly248Val) c.575G>T (p.Gly192Val) c.800G>T (p.Gly267Val) c.530G>T (p.Gly177Val) c.500G>T (p.Gly167Val) | |
| 10 | g.13283724C>G | CA376034110 | PHYH | c.794G>C (p.Gly265Ala) c.494G>C (p.Gly165Ala) c.743G>C (p.Gly248Ala) c.575G>C (p.Gly192Ala) c.800G>C (p.Gly267Ala) c.530G>C (p.Gly177Ala) c.500G>C (p.Gly167Ala) | gnomAD v4 |
| 10 | g.13283724C>T | CA376034111 | PHYH | c.794G>A (p.Gly265Glu) c.494G>A (p.Gly165Glu) c.743G>A (p.Gly248Glu) c.575G>A (p.Gly192Glu) c.800G>A (p.Gly267Glu) c.530G>A (p.Gly177Glu) c.500G>A (p.Gly167Glu) | |
| 10 | g.13283725C>A | CA376034112 | PHYH | c.793G>T (p.Gly265Ter) c.493G>T (p.Gly165Ter) c.742G>T (p.Gly248Ter) c.574G>T (p.Gly192Ter) c.799G>T (p.Gly267Ter) c.529G>T (p.Gly177Ter) c.499G>T (p.Gly167Ter) | |
| 10 | g.13283725C= | CA1891546439 | PHYH | c.793G= (p.Gly265=) c.493G= (p.Gly165=) c.742G= (p.Gly248=) c.574G= (p.Gly192=) c.799G= (p.Gly267=) c.529G= (p.Gly177=) c.499G= (p.Gly167=) | |
| 10 | g.13283725C>G | CA376034113 | PHYH | c.793G>C (p.Gly265Arg) c.493G>C (p.Gly165Arg) c.742G>C (p.Gly248Arg) c.574G>C (p.Gly192Arg) c.799G>C (p.Gly267Arg) c.529G>C (p.Gly177Arg) c.499G>C (p.Gly167Arg) | |
| 10 | g.13283725C>T | CA203276251 | PHYH | c.793G>A (p.Gly265Arg) c.493G>A (p.Gly165Arg) c.742G>A (p.Gly248Arg) c.574G>A (p.Gly192Arg) c.799G>A (p.Gly267Arg) c.529G>A (p.Gly177Arg) c.499G>A (p.Gly167Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.13283726G>A | CA5412241 | PHYH | c.792C>T (p.His264=) c.492C>T (p.His164=) c.741C>T (p.His247=) c.573C>T (p.His191=) c.798C>T (p.His266=) c.528C>T (p.His176=) c.498C>T (p.His166=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.13283726G>C | CA376034114 | PHYH | c.792C>G (p.His264Gln) c.492C>G (p.His164Gln) c.741C>G (p.His247Gln) c.573C>G (p.His191Gln) c.798C>G (p.His266Gln) c.528C>G (p.His176Gln) c.498C>G (p.His166Gln) | |
| 10 | g.13283726G= | CA1891546447 | PHYH | c.792C= (p.His264=) c.492C= (p.His164=) c.741C= (p.His247=) c.573C= (p.His191=) c.798C= (p.His266=) c.528C= (p.His176=) c.498C= (p.His166=) | |
| 10 | g.13283726G>T | CA376034115 | PHYH | c.792C>A (p.His264Gln) c.492C>A (p.His164Gln) c.741C>A (p.His247Gln) c.573C>A (p.His191Gln) c.798C>A (p.His266Gln) c.528C>A (p.His176Gln) c.498C>A (p.His166Gln) | |
| 10 | g.13283727T>A | CA376034116 | PHYH | c.791A>T (p.His264Leu) c.491A>T (p.His164Leu) c.740A>T (p.His247Leu) c.572A>T (p.His191Leu) c.797A>T (p.His266Leu) c.527A>T (p.His176Leu) c.497A>T (p.His166Leu) | COSMIC |
| 10 | g.13283727T>C | CA376034117 | PHYH | c.791A>G (p.His264Arg) c.491A>G (p.His164Arg) c.740A>G (p.His247Arg) c.572A>G (p.His191Arg) c.797A>G (p.His266Arg) c.527A>G (p.His176Arg) c.497A>G (p.His166Arg) | |
| 10 | g.13283727T>G | CA376034118 | PHYH | c.791A>C (p.His264Pro) c.491A>C (p.His164Pro) c.740A>C (p.His247Pro) c.572A>C (p.His191Pro) c.797A>C (p.His266Pro) c.527A>C (p.His176Pro) c.497A>C (p.His166Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.13283727T= | CA1891546457 | PHYH | c.791A= (p.His264=) c.491A= (p.His164=) c.740A= (p.His247=) c.572A= (p.His191=) c.797A= (p.His266=) c.527A= (p.His176=) c.497A= (p.His166=) | |
| 10 | g.13283728G>A | CA376034121 | PHYH | c.790C>T (p.His264Tyr) c.490C>T (p.His164Tyr) c.739C>T (p.His247Tyr) c.571C>T (p.His191Tyr) c.796C>T (p.His266Tyr) c.526C>T (p.His176Tyr) c.496C>T (p.His166Tyr) | |
| 10 | g.13283728G>C | CA376034120 | PHYH | c.790C>G (p.His264Asp) c.490C>G (p.His164Asp) c.739C>G (p.His247Asp) c.571C>G (p.His191Asp) c.796C>G (p.His266Asp) c.526C>G (p.His176Asp) c.496C>G (p.His166Asp) | |
| 10 | g.13283728G= | CA1891546459 | PHYH | c.790C= (p.His264=) c.490C= (p.His164=) c.739C= (p.His247=) c.571C= (p.His191=) c.796C= (p.His266=) c.526C= (p.His176=) c.496C= (p.His166=) | |
| 10 | g.13283728G>T | CA376034119 | PHYH | c.790C>A (p.His264Asn) c.490C>A (p.His164Asn) c.739C>A (p.His247Asn) c.571C>A (p.His191Asn) c.796C>A (p.His266Asn) c.526C>A (p.His176Asn) c.496C>A (p.His166Asn) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.13283729G>A | CA468236880 | PHYH | c.789C>T (p.Ile263=) c.489C>T (p.Ile163=) c.738C>T (p.Ile246=) c.570C>T (p.Ile190=) c.795C>T (p.Ile265=) c.525C>T (p.Ile175=) c.495C>T (p.Ile165=) | |
| 10 | g.13283729G>C | CA376034122 | PHYH | c.789C>G (p.Ile263Met) c.489C>G (p.Ile163Met) c.738C>G (p.Ile246Met) c.570C>G (p.Ile190Met) c.795C>G (p.Ile265Met) c.525C>G (p.Ile175Met) c.495C>G (p.Ile165Met) | |
| 10 | g.13283729G>T | CA468236877 | PHYH | c.789C>A (p.Ile263=) c.489C>A (p.Ile163=) c.738C>A (p.Ile246=) c.570C>A (p.Ile190=) c.795C>A (p.Ile265=) c.525C>A (p.Ile175=) c.495C>A (p.Ile165=) | |
| 10 | g.13283730A>C | CA376034123 | PHYH | c.788T>G (p.Ile263Ser) c.488T>G (p.Ile163Ser) c.737T>G (p.Ile246Ser) c.569T>G (p.Ile190Ser) c.794T>G (p.Ile265Ser) c.524T>G (p.Ile175Ser) c.494T>G (p.Ile165Ser) | |
| 10 | g.13283730A>G | CA376034124 | PHYH | c.788T>C (p.Ile263Thr) c.488T>C (p.Ile163Thr) c.737T>C (p.Ile246Thr) c.569T>C (p.Ile190Thr) c.794T>C (p.Ile265Thr) c.524T>C (p.Ile175Thr) c.494T>C (p.Ile165Thr) | |
| 10 | g.13283730A>T | CA376034125 | PHYH | c.788T>A (p.Ile263Asn) c.488T>A (p.Ile163Asn) c.737T>A (p.Ile246Asn) c.569T>A (p.Ile190Asn) c.794T>A (p.Ile265Asn) c.524T>A (p.Ile175Asn) c.494T>A (p.Ile165Asn) | |
| 10 | g.13283731T>A | CA376034126 | PHYH | c.787A>T (p.Ile263Phe) c.487A>T (p.Ile163Phe) c.736A>T (p.Ile246Phe) c.568A>T (p.Ile190Phe) c.793A>T (p.Ile265Phe) c.523A>T (p.Ile175Phe) c.493A>T (p.Ile165Phe) | |
| 10 | g.13283731T>C | CA376034127 | PHYH | c.787A>G (p.Ile263Val) c.487A>G (p.Ile163Val) c.736A>G (p.Ile246Val) c.568A>G (p.Ile190Val) c.793A>G (p.Ile265Val) c.523A>G (p.Ile175Val) c.493A>G (p.Ile165Val) | gnomAD v4 |
| 10 | g.13283731T>G | CA376034128 | PHYH | c.787A>C (p.Ile263Leu) c.487A>C (p.Ile163Leu) c.736A>C (p.Ile246Leu) c.568A>C (p.Ile190Leu) c.793A>C (p.Ile265Leu) c.523A>C (p.Ile175Leu) c.493A>C (p.Ile165Leu) | |
| 10 | g.13283732G>A | CA468236888 | PHYH | c.786C>T (p.Leu262=) c.486C>T (p.Leu162=) c.735C>T (p.Leu245=) c.567C>T (p.Leu189=) c.792C>T (p.Leu264=) c.522C>T (p.Leu174=) c.492C>T (p.Leu164=) | |
| 10 | g.13283732G>C | CA468236889 | PHYH | c.786C>G (p.Leu262=) c.486C>G (p.Leu162=) c.735C>G (p.Leu245=) c.567C>G (p.Leu189=) c.792C>G (p.Leu264=) c.522C>G (p.Leu174=) c.492C>G (p.Leu164=) | |
| 10 | g.13283732G>T | CA468236891 | PHYH | c.786C>A (p.Leu262=) c.486C>A (p.Leu162=) c.735C>A (p.Leu245=) c.567C>A (p.Leu189=) c.792C>A (p.Leu264=) c.522C>A (p.Leu174=) c.492C>A (p.Leu164=) | |
| 10 | g.13283733A>C | CA376034129 | PHYH | c.785T>G (p.Leu262Arg) c.485T>G (p.Leu162Arg) c.734T>G (p.Leu245Arg) c.566T>G (p.Leu189Arg) c.791T>G (p.Leu264Arg) c.521T>G (p.Leu174Arg) c.491T>G (p.Leu164Arg) | |
| 10 | g.13283733A>G | CA376034130 | PHYH | c.785T>C (p.Leu262Pro) c.485T>C (p.Leu162Pro) c.734T>C (p.Leu245Pro) c.566T>C (p.Leu189Pro) c.791T>C (p.Leu264Pro) c.521T>C (p.Leu174Pro) c.491T>C (p.Leu164Pro) | ClinVar gnomAD v4 |
| 10 | g.13283733A>T | CA376034131 | PHYH | c.785T>A (p.Leu262His) c.485T>A (p.Leu162His) c.734T>A (p.Leu245His) c.566T>A (p.Leu189His) c.791T>A (p.Leu264His) c.521T>A (p.Leu174His) c.491T>A (p.Leu164His) | |
| 10 | g.13283735_13283739dup | CA645560872 | PHYH | c.781_785dup (p.Ile263CysfsTer?) c.481_485dup (p.Ile163CysfsTer?) c.730_734dup (p.Ile246CysfsTer?) c.562_566dup (p.Ile190CysfsTer?) c.787_791dup (p.Ile265CysfsTer?) c.517_521dup (p.Ile175CysfsTer?) c.487_491dup (p.Ile165CysfsTer?) | COSMIC |
| 10 | g.13283734G>A | CA376034132 | PHYH | c.784C>T (p.Leu262Phe) c.484C>T (p.Leu162Phe) c.733C>T (p.Leu245Phe) c.565C>T (p.Leu189Phe) c.790C>T (p.Leu264Phe) c.520C>T (p.Leu174Phe) c.490C>T (p.Leu164Phe) | |
| 10 | g.13283734G>C | CA376034133 | PHYH | c.784C>G (p.Leu262Val) c.484C>G (p.Leu162Val) c.733C>G (p.Leu245Val) c.565C>G (p.Leu189Val) c.790C>G (p.Leu264Val) c.520C>G (p.Leu174Val) c.490C>G (p.Leu164Val) | |
| 10 | g.13283734G>T | CA376034134 | PHYH | c.784C>A (p.Leu262Ile) c.484C>A (p.Leu162Ile) c.733C>A (p.Leu245Ile) c.565C>A (p.Leu189Ile) c.790C>A (p.Leu264Ile) c.520C>A (p.Leu174Ile) c.490C>A (p.Leu164Ile) | |
| 10 | g.13283735C>A | CA376034135 | PHYH | c.783G>T (p.Leu261Phe) c.483G>T (p.Leu161Phe) c.732G>T (p.Leu244Phe) c.564G>T (p.Leu188Phe) c.789G>T (p.Leu263Phe) c.519G>T (p.Leu173Phe) c.489G>T (p.Leu163Phe) | |
| 10 | g.13283735C>G | CA376034136 | PHYH | c.783G>C (p.Leu261Phe) c.483G>C (p.Leu161Phe) c.732G>C (p.Leu244Phe) c.564G>C (p.Leu188Phe) c.789G>C (p.Leu263Phe) c.519G>C (p.Leu173Phe) c.489G>C (p.Leu163Phe) | |
| 10 | g.13283735C>T | CA468236903 | PHYH | c.783G>A (p.Leu261=) c.483G>A (p.Leu161=) c.732G>A (p.Leu244=) c.564G>A (p.Leu188=) c.789G>A (p.Leu263=) c.519G>A (p.Leu173=) c.489G>A (p.Leu163=) | gnomAD v4 |
| 10 | g.13283736A= | CA1891546461 | PHYH | c.782T= (p.Leu261=) c.482T= (p.Leu161=) c.731T= (p.Leu244=) c.563T= (p.Leu188=) c.788T= (p.Leu263=) c.518T= (p.Leu173=) c.488T= (p.Leu163=) | |
| 10 | g.13283736A>C | CA376034137 | PHYH | c.782T>G (p.Leu261Trp) c.482T>G (p.Leu161Trp) c.731T>G (p.Leu244Trp) c.563T>G (p.Leu188Trp) c.788T>G (p.Leu263Trp) c.518T>G (p.Leu173Trp) c.488T>G (p.Leu163Trp) | |
| 10 | g.13283736A>G | CA376034139 | PHYH | c.782T>C (p.Leu261Ser) c.482T>C (p.Leu161Ser) c.731T>C (p.Leu244Ser) c.563T>C (p.Leu188Ser) c.788T>C (p.Leu263Ser) c.518T>C (p.Leu173Ser) c.488T>C (p.Leu163Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.13283736A>T | CA376034138 | PHYH | c.782T>A (p.Leu261Ter) c.482T>A (p.Leu161Ter) c.731T>A (p.Leu244Ter) c.563T>A (p.Leu188Ter) c.788T>A (p.Leu263Ter) c.518T>A (p.Leu173Ter) c.488T>A (p.Leu163Ter) | |
| 10 | g.13283737A= | CA1891546465 | PHYH | c.781T= (p.Leu261=) c.481T= (p.Leu161=) c.730T= (p.Leu244=) c.562T= (p.Leu188=) c.787T= (p.Leu263=) c.517T= (p.Leu173=) c.487T= (p.Leu163=) | |
| 10 | g.13283737A>C | CA376034140 | PHYH | c.781T>G (p.Leu261Val) c.481T>G (p.Leu161Val) c.730T>G (p.Leu244Val) c.562T>G (p.Leu188Val) c.787T>G (p.Leu263Val) c.517T>G (p.Leu173Val) c.487T>G (p.Leu163Val) | |
| 10 | g.13283737A>G | CA468236914 | PHYH | c.781T>C (p.Leu261=) c.481T>C (p.Leu161=) c.730T>C (p.Leu244=) c.562T>C (p.Leu188=) c.787T>C (p.Leu263=) c.517T>C (p.Leu173=) c.487T>C (p.Leu163=) | |
| 10 | g.13283737A>T | CA376034141 | PHYH | c.781T>A (p.Leu261Met) c.481T>A (p.Leu161Met) c.730T>A (p.Leu244Met) c.562T>A (p.Leu188Met) c.787T>A (p.Leu263Met) c.517T>A (p.Leu173Met) c.487T>A (p.Leu163Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.13283738A>C | CA468236919 | PHYH | c.780T>G (p.Pro260=) c.480T>G (p.Pro160=) c.729T>G (p.Pro243=) c.561T>G (p.Pro187=) c.786T>G (p.Pro262=) c.516T>G (p.Pro172=) c.486T>G (p.Pro162=) | COSMIC |
| 10 | g.13283738A>G | CA468236920 | PHYH | c.780T>C (p.Pro260=) c.480T>C (p.Pro160=) c.729T>C (p.Pro243=) c.561T>C (p.Pro187=) c.786T>C (p.Pro262=) c.516T>C (p.Pro172=) c.486T>C (p.Pro162=) | dbSNP |
| 10 | g.13283738A>T | CA468236923 | PHYH | c.780T>A (p.Pro260=) c.480T>A (p.Pro160=) c.729T>A (p.Pro243=) c.561T>A (p.Pro187=) c.786T>A (p.Pro262=) c.516T>A (p.Pro172=) c.486T>A (p.Pro162=) | |
| 10 | g.13283739G>A | CA203276257 | PHYH | c.779C>T (p.Pro260Leu) c.479C>T (p.Pro160Leu) c.728C>T (p.Pro243Leu) c.560C>T (p.Pro187Leu) c.785C>T (p.Pro262Leu) c.515C>T (p.Pro172Leu) c.485C>T (p.Pro162Leu) | dbSNP gnomAD v4 |
| 10 | g.13283739G>C | CA376034143 | PHYH | c.779C>G (p.Pro260Arg) c.479C>G (p.Pro160Arg) c.728C>G (p.Pro243Arg) c.560C>G (p.Pro187Arg) c.785C>G (p.Pro262Arg) c.515C>G (p.Pro172Arg) c.485C>G (p.Pro162Arg) | |
| 10 | g.13283739G= | CA1891546471 | PHYH | c.779C= (p.Pro260=) c.479C= (p.Pro160=) c.728C= (p.Pro243=) c.560C= (p.Pro187=) c.785C= (p.Pro262=) c.515C= (p.Pro172=) c.485C= (p.Pro162=) | |
| 10 | g.13283739G>T | CA376034142 | PHYH | c.779C>A (p.Pro260His) c.479C>A (p.Pro160His) c.728C>A (p.Pro243His) c.560C>A (p.Pro187His) c.785C>A (p.Pro262His) c.515C>A (p.Pro172His) c.485C>A (p.Pro162His) | |
| 10 | g.13283740G>A | CA376034144 | PHYH | c.778C>T (p.Pro260Ser) c.478C>T (p.Pro160Ser) c.727C>T (p.Pro243Ser) c.559C>T (p.Pro187Ser) c.784C>T (p.Pro262Ser) c.514C>T (p.Pro172Ser) c.484C>T (p.Pro162Ser) | |
| 10 | g.13283740G>C | CA376034145 | PHYH | c.778C>G (p.Pro260Ala) c.478C>G (p.Pro160Ala) c.727C>G (p.Pro243Ala) c.559C>G (p.Pro187Ala) c.784C>G (p.Pro262Ala) c.514C>G (p.Pro172Ala) c.484C>G (p.Pro162Ala) | |
| 10 | g.13283740G>T | CA376034146 | PHYH | c.778C>A (p.Pro260Thr) c.478C>A (p.Pro160Thr) c.727C>A (p.Pro243Thr) c.559C>A (p.Pro187Thr) c.784C>A (p.Pro262Thr) c.514C>A (p.Pro172Thr) c.484C>A (p.Pro162Thr) | |
| 10 | g.13283741A>C | CA376034147 | PHYH | c.777T>G (p.His259Gln) c.477T>G (p.His159Gln) c.726T>G (p.His242Gln) c.558T>G (p.His186Gln) c.783T>G (p.His261Gln) c.513T>G (p.His171Gln) c.483T>G (p.His161Gln) | |
| 10 | g.13283741A>G | CA468236938 | PHYH | c.777T>C (p.His259=) c.477T>C (p.His159=) c.726T>C (p.His242=) c.558T>C (p.His186=) c.783T>C (p.His261=) c.513T>C (p.His171=) c.483T>C (p.His161=) | gnomAD v4 |
| 10 | g.13283741A>T | CA376034148 | PHYH | c.777T>A (p.His259Gln) c.477T>A (p.His159Gln) c.726T>A (p.His242Gln) c.558T>A (p.His186Gln) c.783T>A (p.His261Gln) c.513T>A (p.His171Gln) c.483T>A (p.His161Gln) | |
| 10 | g.13283742T>A | CA376034151 | PHYH | c.776A>T (p.His259Leu) c.476A>T (p.His159Leu) c.725A>T (p.His242Leu) c.557A>T (p.His186Leu) c.782A>T (p.His261Leu) c.512A>T (p.His171Leu) c.482A>T (p.His161Leu) | |
| 10 | g.13283742T>C | CA376034150 | PHYH | c.776A>G (p.His259Arg) c.476A>G (p.His159Arg) c.725A>G (p.His242Arg) c.557A>G (p.His186Arg) c.782A>G (p.His261Arg) c.512A>G (p.His171Arg) c.482A>G (p.His161Arg) | |
| 10 | g.13283742T>G | CA376034149 | PHYH | c.776A>C (p.His259Pro) c.476A>C (p.His159Pro) c.725A>C (p.His242Pro) c.557A>C (p.His186Pro) c.782A>C (p.His261Pro) c.512A>C (p.His171Pro) c.482A>C (p.His161Pro) | |
| 10 | g.13283743G>A | CA376034152 | PHYH | c.775C>T (p.His259Tyr) c.475C>T (p.His159Tyr) c.724C>T (p.His242Tyr) c.556C>T (p.His186Tyr) c.781C>T (p.His261Tyr) c.511C>T (p.His171Tyr) c.481C>T (p.His161Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.13283743G>C | CA376034153 | PHYH | c.775C>G (p.His259Asp) c.475C>G (p.His159Asp) c.724C>G (p.His242Asp) c.556C>G (p.His186Asp) c.781C>G (p.His261Asp) c.511C>G (p.His171Asp) c.481C>G (p.His161Asp) | |
| 10 | g.13283743G= | CA1891546474 | PHYH | c.775C= (p.His259=) c.475C= (p.His159=) c.724C= (p.His242=) c.556C= (p.His186=) c.781C= (p.His261=) c.511C= (p.His171=) c.481C= (p.His161=) | |
| 10 | g.13283743G>T | CA376034154 | PHYH | c.775C>A (p.His259Asn) c.475C>A (p.His159Asn) c.724C>A (p.His242Asn) c.556C>A (p.His186Asn) c.781C>A (p.His261Asn) c.511C>A (p.His171Asn) c.481C>A (p.His161Asn) | |
| 10 | g.13283744G>A | CA203276277 | PHYH | c.774C>T (p.Phe258=) c.474C>T (p.Phe158=) c.723C>T (p.Phe241=) c.555C>T (p.Phe185=) c.780C>T (p.Phe260=) c.510C>T (p.Phe170=) c.480C>T (p.Phe160=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.13283744G>C | CA376034155 | PHYH | c.774C>G (p.Phe258Leu) c.474C>G (p.Phe158Leu) c.723C>G (p.Phe241Leu) c.555C>G (p.Phe185Leu) c.780C>G (p.Phe260Leu) c.510C>G (p.Phe170Leu) c.480C>G (p.Phe160Leu) | gnomAD v4 |
| 10 | g.13283744G= | CA1891546476 | PHYH | c.774C= (p.Phe258=) c.474C= (p.Phe158=) c.723C= (p.Phe241=) c.555C= (p.Phe185=) c.780C= (p.Phe260=) c.510C= (p.Phe170=) c.480C= (p.Phe160=) | |
| 10 | g.13283744G>T | CA376034156 | PHYH | c.774C>A (p.Phe258Leu) c.474C>A (p.Phe158Leu) c.723C>A (p.Phe241Leu) c.555C>A (p.Phe185Leu) c.780C>A (p.Phe260Leu) c.510C>A (p.Phe170Leu) c.480C>A (p.Phe160Leu) | |
| 10 | g.13283745A>C | CA376034157 | PHYH | c.773T>G (p.Phe258Cys) c.473T>G (p.Phe158Cys) c.722T>G (p.Phe241Cys) c.554T>G (p.Phe185Cys) c.779T>G (p.Phe260Cys) c.509T>G (p.Phe170Cys) c.479T>G (p.Phe160Cys) | |
| 10 | g.13283745A>G | CA376034159 | PHYH | c.773T>C (p.Phe258Ser) c.473T>C (p.Phe158Ser) c.722T>C (p.Phe241Ser) c.554T>C (p.Phe185Ser) c.779T>C (p.Phe260Ser) c.509T>C (p.Phe170Ser) c.479T>C (p.Phe160Ser) | |
| 10 | g.13283745A>T | CA376034158 | PHYH | c.773T>A (p.Phe258Tyr) c.473T>A (p.Phe158Tyr) c.722T>A (p.Phe241Tyr) c.554T>A (p.Phe185Tyr) c.779T>A (p.Phe260Tyr) c.509T>A (p.Phe170Tyr) c.479T>A (p.Phe160Tyr) | |
| 10 | g.13283746A= | CA1891546480 | PHYH | c.772T= (p.Phe258=) c.472T= (p.Phe158=) c.721T= (p.Phe241=) c.553T= (p.Phe185=) c.778T= (p.Phe260=) c.508T= (p.Phe170=) c.478T= (p.Phe160=) | |
| 10 | g.13283746A>C | CA376034160 | PHYH | c.772T>G (p.Phe258Val) c.472T>G (p.Phe158Val) c.721T>G (p.Phe241Val) c.553T>G (p.Phe185Val) c.778T>G (p.Phe260Val) c.508T>G (p.Phe170Val) c.478T>G (p.Phe160Val) | ClinVar dbSNP |
| 10 | g.13283746A>G | CA376034161 | PHYH | c.772T>C (p.Phe258Leu) c.472T>C (p.Phe158Leu) c.721T>C (p.Phe241Leu) c.553T>C (p.Phe185Leu) c.778T>C (p.Phe260Leu) c.508T>C (p.Phe170Leu) c.478T>C (p.Phe160Leu) | |
| 10 | g.13283746A>T | CA376034162 | PHYH | c.772T>A (p.Phe258Ile) c.472T>A (p.Phe158Ile) c.721T>A (p.Phe241Ile) c.553T>A (p.Phe185Ile) c.778T>A (p.Phe260Ile) c.508T>A (p.Phe170Ile) c.478T>A (p.Phe160Ile) | |
| 10 | g.13283747G>A | CA468236952 | PHYH | c.771C>T (p.Phe257=) c.471C>T (p.Phe157=) c.720C>T (p.Phe240=) c.552C>T (p.Phe184=) c.777C>T (p.Phe259=) c.507C>T (p.Phe169=) c.477C>T (p.Phe159=) | |
| 10 | g.13283747G>C | CA376034163 | PHYH | c.771C>G (p.Phe257Leu) c.471C>G (p.Phe157Leu) c.720C>G (p.Phe240Leu) c.552C>G (p.Phe184Leu) c.777C>G (p.Phe259Leu) c.507C>G (p.Phe169Leu) c.477C>G (p.Phe159Leu) | |
| 10 | g.13283747G>T | CA376034164 | PHYH | c.771C>A (p.Phe257Leu) c.471C>A (p.Phe157Leu) c.720C>A (p.Phe240Leu) c.552C>A (p.Phe184Leu) c.777C>A (p.Phe259Leu) c.507C>A (p.Phe169Leu) c.477C>A (p.Phe159Leu) | |
| 10 | g.13283748A= | CA1891546482 | PHYH | c.770T= (p.Phe257=) c.470T= (p.Phe157=) c.719T= (p.Phe240=) c.551T= (p.Phe184=) c.776T= (p.Phe259=) c.506T= (p.Phe169=) c.476T= (p.Phe159=) | |
| 10 | g.13283748A>C | CA376034165 | PHYH | c.770T>G (p.Phe257Cys) c.470T>G (p.Phe157Cys) c.719T>G (p.Phe240Cys) c.551T>G (p.Phe184Cys) c.776T>G (p.Phe259Cys) c.506T>G (p.Phe169Cys) c.476T>G (p.Phe159Cys) | |
| 10 | g.13283748A>G | CA376034166 | PHYH | c.770T>C (p.Phe257Ser) c.470T>C (p.Phe157Ser) c.719T>C (p.Phe240Ser) c.551T>C (p.Phe184Ser) c.776T>C (p.Phe259Ser) c.506T>C (p.Phe169Ser) c.476T>C (p.Phe159Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.13283748A>T | CA376034167 | PHYH | c.770T>A (p.Phe257Tyr) c.470T>A (p.Phe157Tyr) c.719T>A (p.Phe240Tyr) c.551T>A (p.Phe184Tyr) c.776T>A (p.Phe259Tyr) c.506T>A (p.Phe169Tyr) c.476T>A (p.Phe159Tyr) |