UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.33015649dup | CA2682335568 | NT5C3A | c.756+27dup (n.756+27dup) c.894+27dup (n.894+27dup) c.792+27dup (n.792+27dup) c.909+27dup (n.909+27dup) c.*799+27dup (n.*799+27dup) n.257+27dup c.795+27dup (n.795+27dup) c.694-812dup (n.694-812dup) c.693+27dup (n.693+27dup) | gnomAD v4 |
| 7 | g.33015649del | CA1100009820 | NT5C3A | c.756+27del (n.756+27del) c.894+27del (n.894+27del) c.792+27del (n.792+27del) c.909+27del (n.909+27del) c.*799+27del (n.*799+27del) n.257+27del c.795+27del (n.795+27del) c.694-812del (n.694-812del) c.693+27del (n.693+27del) | gnomAD v3 gnomAD v4 |
| 7 | g.33015649A>C | CA2578863993 | NT5C3A | c.756+21T>G (n.756+21T>G) c.894+21T>G (n.894+21T>G) c.792+21T>G (n.792+21T>G) c.909+21T>G (n.909+21T>G) c.*799+21T>G (n.*799+21T>G) n.257+21T>G c.795+21T>G (n.795+21T>G) c.694-818T>G (n.694-818T>G) c.693+21T>G (n.693+21T>G) | |
| 7 | g.33015650T>A | CA2682335570 | NT5C3A | c.756+20A>T (n.756+20A>T) c.894+20A>T (n.894+20A>T) c.792+20A>T (n.792+20A>T) c.909+20A>T (n.909+20A>T) c.*799+20A>T (n.*799+20A>T) n.257+20A>T c.795+20A>T (n.795+20A>T) c.694-819A>T (n.694-819A>T) c.693+20A>T (n.693+20A>T) | gnomAD v4 |
| 7 | g.33015651T>A | CA2682335571 | NT5C3A | c.756+19A>T (n.756+19A>T) c.894+19A>T (n.894+19A>T) c.792+19A>T (n.792+19A>T) c.909+19A>T (n.909+19A>T) c.*799+19A>T (n.*799+19A>T) n.257+19A>T c.795+19A>T (n.795+19A>T) c.694-820A>T (n.694-820A>T) c.693+19A>T (n.693+19A>T) | gnomAD v4 |
| 7 | g.33015651T>C | CA2682335572 | NT5C3A | c.756+19A>G (n.756+19A>G) c.894+19A>G (n.894+19A>G) c.792+19A>G (n.792+19A>G) c.909+19A>G (n.909+19A>G) c.*799+19A>G (n.*799+19A>G) n.257+19A>G c.795+19A>G (n.795+19A>G) c.694-820A>G (n.694-820A>G) c.693+19A>G (n.693+19A>G) | gnomAD v4 |
| 7 | g.33015652A>G | CA2578863995 | NT5C3A | c.756+18T>C (n.756+18T>C) c.894+18T>C (n.894+18T>C) c.792+18T>C (n.792+18T>C) c.909+18T>C (n.909+18T>C) c.*799+18T>C (n.*799+18T>C) n.257+18T>C c.795+18T>C (n.795+18T>C) c.694-821T>C (n.694-821T>C) c.693+18T>C (n.693+18T>C) | |
| 7 | g.33015653_33015654del | CA2578863994 | NT5C3A | c.756+17_756+18del (n.756+17_756+18del) c.894+17_894+18del (n.894+17_894+18del) c.792+17_792+18del (n.792+17_792+18del) c.909+17_909+18del (n.909+17_909+18del) c.*799+17_*799+18del (n.*799+17_*799+18del) n.257+17_257+18del c.795+17_795+18del (n.795+17_795+18del) c.694-822_694-821del (n.694-822_694-821del) c.693+17_693+18del (n.693+17_693+18del) | gnomAD v4 |
| 7 | g.33015653C>T | CA2682335573 | NT5C3A | c.756+17G>A (n.756+17G>A) c.894+17G>A (n.894+17G>A) c.792+17G>A (n.792+17G>A) c.909+17G>A (n.909+17G>A) c.*799+17G>A (n.*799+17G>A) n.257+17G>A c.795+17G>A (n.795+17G>A) c.694-822G>A (n.694-822G>A) c.693+17G>A (n.693+17G>A) | gnomAD v4 |
| 7 | g.33015654A>G | CA2682335574 | NT5C3A | c.756+16T>C (n.756+16T>C) c.894+16T>C (n.894+16T>C) c.792+16T>C (n.792+16T>C) c.909+16T>C (n.909+16T>C) c.*799+16T>C (n.*799+16T>C) n.257+16T>C c.795+16T>C (n.795+16T>C) c.694-823T>C (n.694-823T>C) c.693+16T>C (n.693+16T>C) | gnomAD v4 |
| 7 | g.33015654A>T | CA651462282 | NT5C3A | c.756+16T>A (n.756+16T>A) c.894+16T>A (n.894+16T>A) c.792+16T>A (n.792+16T>A) c.909+16T>A (n.909+16T>A) c.*799+16T>A (n.*799+16T>A) n.257+16T>A c.795+16T>A (n.795+16T>A) c.694-823T>A (n.694-823T>A) c.693+16T>A (n.693+16T>A) | COSMIC |
| 7 | g.33015655G>C | CA2578863996 | NT5C3A | c.756+15C>G (n.756+15C>G) c.894+15C>G (n.894+15C>G) c.792+15C>G (n.792+15C>G) c.909+15C>G (n.909+15C>G) c.*799+15C>G (n.*799+15C>G) n.257+15C>G c.795+15C>G (n.795+15C>G) c.694-824C>G (n.694-824C>G) c.693+15C>G (n.693+15C>G) | gnomAD v4 |
| 7 | g.33015655G>T | CA2682335575 | NT5C3A | c.756+15C>A (n.756+15C>A) c.894+15C>A (n.894+15C>A) c.792+15C>A (n.792+15C>A) c.909+15C>A (n.909+15C>A) c.*799+15C>A (n.*799+15C>A) n.257+15C>A c.795+15C>A (n.795+15C>A) c.694-824C>A (n.694-824C>A) c.693+15C>A (n.693+15C>A) | gnomAD v4 |
| 7 | g.33015659T>C | CA1100009821 | NT5C3A | c.756+11A>G (n.756+11A>G) c.894+11A>G (n.894+11A>G) c.792+11A>G (n.792+11A>G) c.909+11A>G (n.909+11A>G) c.*799+11A>G (n.*799+11A>G) n.257+11A>G c.795+11A>G (n.795+11A>G) c.694-828A>G (n.694-828A>G) c.693+11A>G (n.693+11A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.33015659T= | CA1698574676 | NT5C3A | c.756+11A= (n.756+11A=) c.894+11A= (n.894+11A=) c.792+11A= (n.792+11A=) c.909+11A= (n.909+11A=) c.*799+11A= (n.*799+11A=) n.257+11A= c.795+11A= (n.795+11A=) c.694-828A= (n.694-828A=) c.693+11A= (n.693+11A=) | |
| 7 | g.33015660G>A | CA2682335576 | NT5C3A | c.756+10C>T (n.756+10C>T) c.894+10C>T (n.894+10C>T) c.792+10C>T (n.792+10C>T) c.909+10C>T (n.909+10C>T) c.*799+10C>T (n.*799+10C>T) n.257+10C>T c.795+10C>T (n.795+10C>T) c.694-829C>T (n.694-829C>T) c.693+10C>T (n.693+10C>T) | gnomAD v4 |
| 7 | g.33015660G>T | CA2578863997 | NT5C3A | c.756+10C>A (n.756+10C>A) c.894+10C>A (n.894+10C>A) c.792+10C>A (n.792+10C>A) c.909+10C>A (n.909+10C>A) c.*799+10C>A (n.*799+10C>A) n.257+10C>A c.795+10C>A (n.795+10C>A) c.694-829C>A (n.694-829C>A) c.693+10C>A (n.693+10C>A) | gnomAD v4 |
| 7 | g.33015661T>A | CA2682335577 | NT5C3A | c.756+9A>T (n.756+9A>T) c.894+9A>T (n.894+9A>T) c.792+9A>T (n.792+9A>T) c.909+9A>T (n.909+9A>T) c.*799+9A>T (n.*799+9A>T) n.257+9A>T c.795+9A>T (n.795+9A>T) c.694-830A>T (n.694-830A>T) c.693+9A>T (n.693+9A>T) | gnomAD v4 |
| 7 | g.33015661T>C | CA2682335578 | NT5C3A | c.756+9A>G (n.756+9A>G) c.894+9A>G (n.894+9A>G) c.792+9A>G (n.792+9A>G) c.909+9A>G (n.909+9A>G) c.*799+9A>G (n.*799+9A>G) n.257+9A>G c.795+9A>G (n.795+9A>G) c.694-830A>G (n.694-830A>G) c.693+9A>G (n.693+9A>G) | gnomAD v4 |
| 7 | g.33015662A= | CA1698574677 | NT5C3A | c.756+8T= (n.756+8T=) c.894+8T= (n.894+8T=) c.792+8T= (n.792+8T=) c.909+8T= (n.909+8T=) c.*799+8T= (n.*799+8T=) n.257+8T= c.795+8T= (n.795+8T=) c.694-831T= (n.694-831T=) c.693+8T= (n.693+8T=) | |
| 7 | g.33015662A>G | CA4213297 | NT5C3A | c.756+8T>C (n.756+8T>C) c.894+8T>C (n.894+8T>C) c.792+8T>C (n.792+8T>C) c.909+8T>C (n.909+8T>C) c.*799+8T>C (n.*799+8T>C) n.257+8T>C c.795+8T>C (n.795+8T>C) c.694-831T>C (n.694-831T>C) c.693+8T>C (n.693+8T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.33015662A>T | CA4213298 | NT5C3A | c.756+8T>A (n.756+8T>A) c.894+8T>A (n.894+8T>A) c.792+8T>A (n.792+8T>A) c.909+8T>A (n.909+8T>A) c.*799+8T>A (n.*799+8T>A) n.257+8T>A c.795+8T>A (n.795+8T>A) c.694-831T>A (n.694-831T>A) c.693+8T>A (n.693+8T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.33015663T>C | CA4213299 | NT5C3A | c.756+7A>G (n.756+7A>G) c.894+7A>G (n.894+7A>G) c.792+7A>G (n.792+7A>G) c.909+7A>G (n.909+7A>G) c.*799+7A>G (n.*799+7A>G) n.257+7A>G c.795+7A>G (n.795+7A>G) c.694-832A>G (n.694-832A>G) c.693+7A>G (n.693+7A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.33015663T= | CA1698574678 | NT5C3A | c.756+7A= (n.756+7A=) c.894+7A= (n.894+7A=) c.792+7A= (n.792+7A=) c.909+7A= (n.909+7A=) c.*799+7A= (n.*799+7A=) n.257+7A= c.795+7A= (n.795+7A=) c.694-832A= (n.694-832A=) c.693+7A= (n.693+7A=) | |
| 7 | g.33015667_33015670del | CA2682335579 | NT5C3A | c.756+4_756+7del c.894+4_894+7del c.792+4_792+7del c.909+4_909+7del c.*799+4_*799+7del n.257+4_257+7del c.795+4_795+7del c.694-835_694-832del (n.694-835_694-832del) c.693+4_693+7del | gnomAD v4 |
| 7 | g.33015666_33015694del | CA2682335580 | NT5C3A | c.733_756+5del c.871_894+5del c.769_792+5del c.886_909+5del c.*776_*799+5del n.234_257+5del c.772_795+5del c.694-862_694-834del (n.694-862_694-834del) c.670_693+5del | gnomAD v4 |
| 7 | g.33015666T>C | CA2682335581 | NT5C3A | c.756+4A>G (n.756+4A>G) c.894+4A>G (n.894+4A>G) c.792+4A>G (n.792+4A>G) c.909+4A>G (n.909+4A>G) c.*799+4A>G (n.*799+4A>G) n.257+4A>G c.795+4A>G (n.795+4A>G) c.694-835A>G (n.694-835A>G) c.693+4A>G (n.693+4A>G) | gnomAD v4 |
| 7 | g.33015668A>C | CA367190316 | NT5C3A | c.756+2T>G (n.756+2T>G) c.894+2T>G (n.894+2T>G) c.792+2T>G (n.792+2T>G) c.909+2T>G (n.909+2T>G) c.*799+2T>G (n.*799+2T>G) n.257+2T>G c.795+2T>G (n.795+2T>G) c.694-837T>G (n.694-837T>G) c.693+2T>G (n.693+2T>G) | gnomAD v4 |
| 7 | g.33015668A>G | CA367190320 | NT5C3A | c.756+2T>C (n.756+2T>C) c.894+2T>C (n.894+2T>C) c.792+2T>C (n.792+2T>C) c.909+2T>C (n.909+2T>C) c.*799+2T>C (n.*799+2T>C) n.257+2T>C c.795+2T>C (n.795+2T>C) c.694-837T>C (n.694-837T>C) c.693+2T>C (n.693+2T>C) | |
| 7 | g.33015668A>T | CA367190317 | NT5C3A | c.756+2T>A (n.756+2T>A) c.894+2T>A (n.894+2T>A) c.792+2T>A (n.792+2T>A) c.909+2T>A (n.909+2T>A) c.*799+2T>A (n.*799+2T>A) n.257+2T>A c.795+2T>A (n.795+2T>A) c.694-837T>A (n.694-837T>A) c.693+2T>A (n.693+2T>A) | gnomAD v4 |
| 7 | g.33015669C>A | CA367190323 | NT5C3A | c.756+1G>T (n.756+1G>T) c.894+1G>T (n.894+1G>T) c.792+1G>T (n.792+1G>T) c.909+1G>T (n.909+1G>T) c.*799+1G>T (n.*799+1G>T) n.257+1G>T c.795+1G>T (n.795+1G>T) c.694-838G>T (n.694-838G>T) c.693+1G>T (n.693+1G>T) | |
| 7 | g.33015669C>G | CA367190325 | NT5C3A | c.756+1G>C (n.756+1G>C) c.894+1G>C (n.894+1G>C) c.792+1G>C (n.792+1G>C) c.909+1G>C (n.909+1G>C) c.*799+1G>C (n.*799+1G>C) n.257+1G>C c.795+1G>C (n.795+1G>C) c.694-838G>C (n.694-838G>C) c.693+1G>C (n.693+1G>C) | |
| 7 | g.33015669C>T | CA367190327 | NT5C3A | c.756+1G>A (n.756+1G>A) c.894+1G>A (n.894+1G>A) c.792+1G>A (n.792+1G>A) c.909+1G>A (n.909+1G>A) c.*799+1G>A (n.*799+1G>A) n.257+1G>A c.795+1G>A (n.795+1G>A) c.694-838G>A (n.694-838G>A) c.693+1G>A (n.693+1G>A) | gnomAD v4 |
| 7 | g.33015670T>A | CA367190330 | NT5C3A | c.756A>T (p.Arg252Ser) c.894A>T (p.Arg298Ser) c.792A>T (p.Arg264Ser) c.909A>T (p.Arg303Ser) c.*799A>T (n.*799A>T) n.257A>T c.795A>T (p.Arg265Ser) c.694-839A>T (n.694-839A>T) c.693A>T (p.Arg231Ser) | |
| 7 | g.33015670T>C | CA454341182 | NT5C3A | c.756A>G (p.Arg252=) c.894A>G (p.Arg298=) c.792A>G (p.Arg264=) c.909A>G (p.Arg303=) c.*799A>G (n.*799A>G) n.257A>G c.795A>G (p.Arg265=) c.694-839A>G (n.694-839A>G) c.693A>G (p.Arg231=) | gnomAD v4 |
| 7 | g.33015670T>G | CA367190332 | NT5C3A | c.756A>C (p.Arg252Ser) c.894A>C (p.Arg298Ser) c.792A>C (p.Arg264Ser) c.909A>C (p.Arg303Ser) c.*799A>C (n.*799A>C) n.257A>C c.795A>C (p.Arg265Ser) c.694-839A>C (n.694-839A>C) c.693A>C (p.Arg231Ser) | |
| 7 | g.33015671C>A | CA367190339 | NT5C3A | c.755G>T (p.Arg252Ile) c.893G>T (p.Arg298Ile) c.791G>T (p.Arg264Ile) c.908G>T (p.Arg303Ile) c.*798G>T (n.*798G>T) n.256G>T c.794G>T (p.Arg265Ile) c.694-840G>T (n.694-840G>T) c.692G>T (p.Arg231Ile) | |
| 7 | g.33015671C>G | CA367190341 | NT5C3A | c.755G>C (p.Arg252Thr) c.893G>C (p.Arg298Thr) c.791G>C (p.Arg264Thr) c.908G>C (p.Arg303Thr) c.*798G>C (n.*798G>C) n.256G>C c.794G>C (p.Arg265Thr) c.694-840G>C (n.694-840G>C) c.692G>C (p.Arg231Thr) | |
| 7 | g.33015671C>T | CA367190342 | NT5C3A | c.755G>A (p.Arg252Lys) c.893G>A (p.Arg298Lys) c.791G>A (p.Arg264Lys) c.908G>A (p.Arg303Lys) c.*798G>A (n.*798G>A) n.256G>A c.794G>A (p.Arg265Lys) c.694-840G>A (n.694-840G>A) c.692G>A (p.Arg231Lys) | |
| 7 | g.33015672T>A | CA367190346 | NT5C3A | c.754A>T (p.Arg252Ter) c.892A>T (p.Arg298Ter) c.790A>T (p.Arg264Ter) c.907A>T (p.Arg303Ter) c.*797A>T (n.*797A>T) n.255A>T c.793A>T (p.Arg265Ter) c.694-841A>T (n.694-841A>T) c.691A>T (p.Arg231Ter) | |
| 7 | g.33015672T>C | CA367190348 | NT5C3A | c.754A>G (p.Arg252Gly) c.892A>G (p.Arg298Gly) c.790A>G (p.Arg264Gly) c.907A>G (p.Arg303Gly) c.*797A>G (n.*797A>G) n.255A>G c.793A>G (p.Arg265Gly) c.694-841A>G (n.694-841A>G) c.691A>G (p.Arg231Gly) | gnomAD v4 |
| 7 | g.33015672T>G | CA454341193 | NT5C3A | c.754A>C (p.Arg252=) c.892A>C (p.Arg298=) c.790A>C (p.Arg264=) c.907A>C (p.Arg303=) c.*797A>C (n.*797A>C) n.255A>C c.793A>C (p.Arg265=) c.694-841A>C (n.694-841A>C) c.691A>C (p.Arg231=) | |
| 7 | g.33015673A= | CA1698574679 | NT5C3A | c.753T= (p.Asp251=) c.891T= (p.Asp297=) c.789T= (p.Asp263=) c.906T= (p.Asp302=) c.*796T= (n.*796T=) n.254T= c.792T= (p.Asp264=) c.694-842T= (n.694-842T=) c.690T= (p.Asp230=) | |
| 7 | g.33015673A>C | CA367190351 | NT5C3A | c.753T>G (p.Asp251Glu) c.891T>G (p.Asp297Glu) c.789T>G (p.Asp263Glu) c.906T>G (p.Asp302Glu) c.*796T>G (n.*796T>G) n.254T>G c.792T>G (p.Asp264Glu) c.694-842T>G (n.694-842T>G) c.690T>G (p.Asp230Glu) | |
| 7 | g.33015673A>G | CA156256073 | NT5C3A | c.753T>C (p.Asp251=) c.891T>C (p.Asp297=) c.789T>C (p.Asp263=) c.906T>C (p.Asp302=) c.*796T>C (n.*796T>C) n.254T>C c.792T>C (p.Asp264=) c.694-842T>C (n.694-842T>C) c.690T>C (p.Asp230=) | dbSNP gnomAD v4 |
| 7 | g.33015673A>T | CA367190352 | NT5C3A | c.753T>A (p.Asp251Glu) c.891T>A (p.Asp297Glu) c.789T>A (p.Asp263Glu) c.906T>A (p.Asp302Glu) c.*796T>A (n.*796T>A) n.254T>A c.792T>A (p.Asp264Glu) c.694-842T>A (n.694-842T>A) c.690T>A (p.Asp230Glu) | |
| 7 | g.33015674T>A | CA367190360 | NT5C3A | c.752A>T (p.Asp251Val) c.890A>T (p.Asp297Val) c.788A>T (p.Asp263Val) c.905A>T (p.Asp302Val) c.*795A>T (n.*795A>T) n.253A>T c.791A>T (p.Asp264Val) c.694-843A>T (n.694-843A>T) c.689A>T (p.Asp230Val) | |
| 7 | g.33015674T>C | CA367190355 | NT5C3A | c.752A>G (p.Asp251Gly) c.890A>G (p.Asp297Gly) c.788A>G (p.Asp263Gly) c.905A>G (p.Asp302Gly) c.*795A>G (n.*795A>G) n.253A>G c.791A>G (p.Asp264Gly) c.694-843A>G (n.694-843A>G) c.689A>G (p.Asp230Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.33015674T>G | CA367190358 | NT5C3A | c.752A>C (p.Asp251Ala) c.890A>C (p.Asp297Ala) c.788A>C (p.Asp263Ala) c.905A>C (p.Asp302Ala) c.*795A>C (n.*795A>C) n.253A>C c.791A>C (p.Asp264Ala) c.694-843A>C (n.694-843A>C) c.689A>C (p.Asp230Ala) | gnomAD v4 |
| 7 | g.33015674T= | CA1698574680 | NT5C3A | c.752A= (p.Asp251=) c.890A= (p.Asp297=) c.788A= (p.Asp263=) c.905A= (p.Asp302=) c.*795A= (n.*795A=) n.253A= c.791A= (p.Asp264=) c.694-843A= (n.694-843A=) c.689A= (p.Asp230=) | |
| 7 | g.33015675C>A | CA367190364 | NT5C3A | c.751G>T (p.Asp251Tyr) c.889G>T (p.Asp297Tyr) c.787G>T (p.Asp263Tyr) c.904G>T (p.Asp302Tyr) c.*794G>T (n.*794G>T) n.252G>T c.790G>T (p.Asp264Tyr) c.694-844G>T (n.694-844G>T) c.688G>T (p.Asp230Tyr) | gnomAD v4 |
| 7 | g.33015675C>G | CA367190366 | NT5C3A | c.751G>C (p.Asp251His) c.889G>C (p.Asp297His) c.787G>C (p.Asp263His) c.904G>C (p.Asp302His) c.*794G>C (n.*794G>C) n.252G>C c.790G>C (p.Asp264His) c.694-844G>C (n.694-844G>C) c.688G>C (p.Asp230His) | |
| 7 | g.33015675C>T | CA367190368 | NT5C3A | c.751G>A (p.Asp251Asn) c.889G>A (p.Asp297Asn) c.787G>A (p.Asp263Asn) c.904G>A (p.Asp302Asn) c.*794G>A (n.*794G>A) n.252G>A c.790G>A (p.Asp264Asn) c.694-844G>A (n.694-844G>A) c.688G>A (p.Asp230Asn) | |
| 7 | g.33015676A>C | CA367190371 | NT5C3A | c.750T>G (p.Asn250Lys) c.888T>G (p.Asn296Lys) c.786T>G (p.Asn262Lys) c.903T>G (p.Asn301Lys) c.*793T>G (n.*793T>G) n.251T>G c.789T>G (p.Asn263Lys) c.694-845T>G (n.694-845T>G) c.687T>G (p.Asn229Lys) | |
| 7 | g.33015676A>G | CA454341214 | NT5C3A | c.750T>C (p.Asn250=) c.888T>C (p.Asn296=) c.786T>C (p.Asn262=) c.903T>C (p.Asn301=) c.*793T>C (n.*793T>C) n.251T>C c.789T>C (p.Asn263=) c.694-845T>C (n.694-845T>C) c.687T>C (p.Asn229=) | |
| 7 | g.33015676A>T | CA367190373 | NT5C3A | c.750T>A (p.Asn250Lys) c.888T>A (p.Asn296Lys) c.786T>A (p.Asn262Lys) c.903T>A (p.Asn301Lys) c.*793T>A (n.*793T>A) n.251T>A c.789T>A (p.Asn263Lys) c.694-845T>A (n.694-845T>A) c.687T>A (p.Asn229Lys) | |
| 7 | g.33015677T>A | CA367190377 | NT5C3A | c.749A>T (p.Asn250Ile) c.887A>T (p.Asn296Ile) c.785A>T (p.Asn262Ile) c.902A>T (p.Asn301Ile) c.*792A>T (n.*792A>T) n.250A>T c.788A>T (p.Asn263Ile) c.694-846A>T (n.694-846A>T) c.686A>T (p.Asn229Ile) | |
| 7 | g.33015677T>C | CA367190379 | NT5C3A | c.749A>G (p.Asn250Ser) c.887A>G (p.Asn296Ser) c.785A>G (p.Asn262Ser) c.902A>G (p.Asn301Ser) c.*792A>G (n.*792A>G) n.250A>G c.788A>G (p.Asn263Ser) c.694-846A>G (n.694-846A>G) c.686A>G (p.Asn229Ser) | |
| 7 | g.33015677T>G | CA367190381 | NT5C3A | c.749A>C (p.Asn250Thr) c.887A>C (p.Asn296Thr) c.785A>C (p.Asn262Thr) c.902A>C (p.Asn301Thr) c.*792A>C (n.*792A>C) n.250A>C c.788A>C (p.Asn263Thr) c.694-846A>C (n.694-846A>C) c.686A>C (p.Asn229Thr) | |
| 7 | g.33015679del | CA2682335582 | NT5C3A | c.749del (p.Asn250MetfsTer8) c.887del (p.Asn296MetfsTer8) c.785del (p.Asn262MetfsTer8) c.902del (p.Asn301MetfsTer8) c.*792del (n.*792del) n.250del c.788del (p.Asn263MetfsTer8) c.694-846del (n.694-846del) c.686del (p.Asn229MetfsTer8) | gnomAD v4 |
| 7 | g.33015678T>A | CA367190384 | NT5C3A | c.748A>T (p.Asn250Tyr) c.886A>T (p.Asn296Tyr) c.784A>T (p.Asn262Tyr) c.901A>T (p.Asn301Tyr) c.*791A>T (n.*791A>T) n.249A>T c.787A>T (p.Asn263Tyr) c.694-847A>T (n.694-847A>T) c.685A>T (p.Asn229Tyr) | |
| 7 | g.33015678T>C | CA367190386 | NT5C3A | c.748A>G (p.Asn250Asp) c.886A>G (p.Asn296Asp) c.784A>G (p.Asn262Asp) c.901A>G (p.Asn301Asp) c.*791A>G (n.*791A>G) n.249A>G c.787A>G (p.Asn263Asp) c.694-847A>G (n.694-847A>G) c.685A>G (p.Asn229Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.33015678T>G | CA367190388 | NT5C3A | c.748A>C (p.Asn250His) c.886A>C (p.Asn296His) c.784A>C (p.Asn262His) c.901A>C (p.Asn301His) c.*791A>C (n.*791A>C) n.249A>C c.787A>C (p.Asn263His) c.694-847A>C (n.694-847A>C) c.685A>C (p.Asn229His) | |
| 7 | g.33015678T= | CA1698574681 | NT5C3A | c.748A= (p.Asn250=) c.886A= (p.Asn296=) c.784A= (p.Asn262=) c.901A= (p.Asn301=) c.*791A= (n.*791A=) n.249A= c.787A= (p.Asn263=) c.694-847A= (n.694-847A=) c.685A= (p.Asn229=) | |
| 7 | g.33015679T>A | CA454341230 | NT5C3A | c.747A>T (p.Leu249=) c.885A>T (p.Leu295=) c.783A>T (p.Leu261=) c.900A>T (p.Leu300=) c.*790A>T (n.*790A>T) n.248A>T c.786A>T (p.Leu262=) c.694-848A>T (n.694-848A>T) c.684A>T (p.Leu228=) | |
| 7 | g.33015679T>C | CA454341232 | NT5C3A | c.747A>G (p.Leu249=) c.885A>G (p.Leu295=) c.783A>G (p.Leu261=) c.900A>G (p.Leu300=) c.*790A>G (n.*790A>G) n.248A>G c.786A>G (p.Leu262=) c.694-848A>G (n.694-848A>G) c.684A>G (p.Leu228=) | |
| 7 | g.33015679T>G | CA454341234 | NT5C3A | c.747A>C (p.Leu249=) c.885A>C (p.Leu295=) c.783A>C (p.Leu261=) c.900A>C (p.Leu300=) c.*790A>C (n.*790A>C) n.248A>C c.786A>C (p.Leu262=) c.694-848A>C (n.694-848A>C) c.684A>C (p.Leu228=) | |
| 7 | g.33015680A= | CA1698574682 | NT5C3A | c.746T= (p.Leu249=) c.884T= (p.Leu295=) c.782T= (p.Leu261=) c.899T= (p.Leu300=) c.*789T= (n.*789T=) n.247T= c.785T= (p.Leu262=) c.694-849T= (n.694-849T=) c.683T= (p.Leu228=) | |
| 7 | g.33015680A>C | CA367190396 | NT5C3A | c.746T>G (p.Leu249Arg) c.884T>G (p.Leu295Arg) c.782T>G (p.Leu261Arg) c.899T>G (p.Leu300Arg) c.*789T>G (n.*789T>G) n.247T>G c.785T>G (p.Leu262Arg) c.694-849T>G (n.694-849T>G) c.683T>G (p.Leu228Arg) | |
| 7 | g.33015680A>G | CA367190394 | NT5C3A | c.746T>C (p.Leu249Pro) c.884T>C (p.Leu295Pro) c.782T>C (p.Leu261Pro) c.899T>C (p.Leu300Pro) c.*789T>C (n.*789T>C) n.247T>C c.785T>C (p.Leu262Pro) c.694-849T>C (n.694-849T>C) c.683T>C (p.Leu228Pro) | dbSNP |
| 7 | g.33015680A>T | CA367190392 | NT5C3A | c.746T>A (p.Leu249Gln) c.884T>A (p.Leu295Gln) c.782T>A (p.Leu261Gln) c.899T>A (p.Leu300Gln) c.*789T>A (n.*789T>A) n.247T>A c.785T>A (p.Leu262Gln) c.694-849T>A (n.694-849T>A) c.683T>A (p.Leu228Gln) | |
| 7 | g.33015681G>A | CA454341242 | NT5C3A | c.745C>T (p.Leu249=) c.883C>T (p.Leu295=) c.781C>T (p.Leu261=) c.898C>T (p.Leu300=) c.*788C>T (n.*788C>T) n.246C>T c.784C>T (p.Leu262=) c.694-850C>T (n.694-850C>T) c.682C>T (p.Leu228=) | |
| 7 | g.33015681G>C | CA367190397 | NT5C3A | c.745C>G (p.Leu249Val) c.883C>G (p.Leu295Val) c.781C>G (p.Leu261Val) c.898C>G (p.Leu300Val) c.*788C>G (n.*788C>G) n.246C>G c.784C>G (p.Leu262Val) c.694-850C>G (n.694-850C>G) c.682C>G (p.Leu228Val) | gnomAD v4 |
| 7 | g.33015681G>T | CA367190399 | NT5C3A | c.745C>A (p.Leu249Ile) c.883C>A (p.Leu295Ile) c.781C>A (p.Leu261Ile) c.898C>A (p.Leu300Ile) c.*788C>A (n.*788C>A) n.246C>A c.784C>A (p.Leu262Ile) c.694-850C>A (n.694-850C>A) c.682C>A (p.Leu228Ile) | gnomAD v4 COSMIC COSMIC |
| 7 | g.33015682A>C | CA367190402 | NT5C3A | c.744T>G (p.Tyr248Ter) c.882T>G (p.Tyr294Ter) c.780T>G (p.Tyr260Ter) c.897T>G (p.Tyr299Ter) c.*787T>G (n.*787T>G) n.245T>G c.783T>G (p.Tyr261Ter) c.694-851T>G (n.694-851T>G) c.681T>G (p.Tyr227Ter) | |
| 7 | g.33015682A>G | CA454341253 | NT5C3A | c.744T>C (p.Tyr248=) c.882T>C (p.Tyr294=) c.780T>C (p.Tyr260=) c.897T>C (p.Tyr299=) c.*787T>C (n.*787T>C) n.245T>C c.783T>C (p.Tyr261=) c.694-851T>C (n.694-851T>C) c.681T>C (p.Tyr227=) | gnomAD v4 |
| 7 | g.33015682A>T | CA367190405 | NT5C3A | c.744T>A (p.Tyr248Ter) c.882T>A (p.Tyr294Ter) c.780T>A (p.Tyr260Ter) c.897T>A (p.Tyr299Ter) c.*787T>A (n.*787T>A) n.245T>A c.783T>A (p.Tyr261Ter) c.694-851T>A (n.694-851T>A) c.681T>A (p.Tyr227Ter) | |
| 7 | g.33015683T>A | CA367190407 | NT5C3A | c.743A>T (p.Tyr248Phe) c.881A>T (p.Tyr294Phe) c.779A>T (p.Tyr260Phe) c.896A>T (p.Tyr299Phe) c.*786A>T (n.*786A>T) n.244A>T c.782A>T (p.Tyr261Phe) c.694-852A>T (n.694-852A>T) c.680A>T (p.Tyr227Phe) | |
| 7 | g.33015683T>C | CA156256079 | NT5C3A | c.743A>G (p.Tyr248Cys) c.881A>G (p.Tyr294Cys) c.779A>G (p.Tyr260Cys) c.896A>G (p.Tyr299Cys) c.*786A>G (n.*786A>G) n.244A>G c.782A>G (p.Tyr261Cys) c.694-852A>G (n.694-852A>G) c.680A>G (p.Tyr227Cys) | dbSNP COSMIC |
| 7 | g.33015683T>G | CA367190411 | NT5C3A | c.743A>C (p.Tyr248Ser) c.881A>C (p.Tyr294Ser) c.779A>C (p.Tyr260Ser) c.896A>C (p.Tyr299Ser) c.*786A>C (n.*786A>C) n.244A>C c.782A>C (p.Tyr261Ser) c.694-852A>C (n.694-852A>C) c.680A>C (p.Tyr227Ser) | |
| 7 | g.33015683T= | CA1698574683 | NT5C3A | c.743A= (p.Tyr248=) c.881A= (p.Tyr294=) c.779A= (p.Tyr260=) c.896A= (p.Tyr299=) c.*786A= (n.*786A=) n.244A= c.782A= (p.Tyr261=) c.694-852A= (n.694-852A=) c.680A= (p.Tyr227=) | |
| 7 | g.33015684A>C | CA367190414 | NT5C3A | c.742T>G (p.Tyr248Asp) c.880T>G (p.Tyr294Asp) c.778T>G (p.Tyr260Asp) c.895T>G (p.Tyr299Asp) c.*785T>G (n.*785T>G) n.243T>G c.781T>G (p.Tyr261Asp) c.694-853T>G (n.694-853T>G) c.679T>G (p.Tyr227Asp) | |
| 7 | g.33015684A>G | CA367190415 | NT5C3A | c.742T>C (p.Tyr248His) c.880T>C (p.Tyr294His) c.778T>C (p.Tyr260His) c.895T>C (p.Tyr299His) c.*785T>C (n.*785T>C) n.243T>C c.781T>C (p.Tyr261His) c.694-853T>C (n.694-853T>C) c.679T>C (p.Tyr227His) | gnomAD v4 |
| 7 | g.33015684A>T | CA367190416 | NT5C3A | c.742T>A (p.Tyr248Asn) c.880T>A (p.Tyr294Asn) c.778T>A (p.Tyr260Asn) c.895T>A (p.Tyr299Asn) c.*785T>A (n.*785T>A) n.243T>A c.781T>A (p.Tyr261Asn) c.694-853T>A (n.694-853T>A) c.679T>A (p.Tyr227Asn) | |
| 7 | g.33015685T>A | CA454341273 | NT5C3A | c.741A>T (p.Gly247=) c.879A>T (p.Gly293=) c.777A>T (p.Gly259=) c.894A>T (p.Gly298=) c.*784A>T (n.*784A>T) n.242A>T c.780A>T (p.Gly260=) c.694-854A>T (n.694-854A>T) c.678A>T (p.Gly226=) | |
| 7 | g.33015685T>C | CA4213300 | NT5C3A | c.741A>G (p.Gly247=) c.879A>G (p.Gly293=) c.777A>G (p.Gly259=) c.894A>G (p.Gly298=) c.*784A>G (n.*784A>G) n.242A>G c.780A>G (p.Gly260=) c.694-854A>G (n.694-854A>G) c.678A>G (p.Gly226=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.33015685T>G | CA454341269 | NT5C3A | c.741A>C (p.Gly247=) c.879A>C (p.Gly293=) c.777A>C (p.Gly259=) c.894A>C (p.Gly298=) c.*784A>C (n.*784A>C) n.242A>C c.780A>C (p.Gly260=) c.694-854A>C (n.694-854A>C) c.678A>C (p.Gly226=) | |
| 7 | g.33015685T= | CA1698574684 | NT5C3A | c.741A= (p.Gly247=) c.879A= (p.Gly293=) c.777A= (p.Gly259=) c.894A= (p.Gly298=) c.*784A= (n.*784A=) n.242A= c.780A= (p.Gly260=) c.694-854A= (n.694-854A=) c.678A= (p.Gly226=) | |
| 7 | g.33015686C>A | CA367190420 | NT5C3A | c.740G>T (p.Gly247Val) c.878G>T (p.Gly293Val) c.776G>T (p.Gly259Val) c.893G>T (p.Gly298Val) c.*783G>T (n.*783G>T) n.241G>T c.779G>T (p.Gly260Val) c.694-855G>T (n.694-855G>T) c.677G>T (p.Gly226Val) | dbSNP |
| 7 | g.33015686C= | CA1698574685 | NT5C3A | c.740G= (p.Gly247=) c.878G= (p.Gly293=) c.776G= (p.Gly259=) c.893G= (p.Gly298=) c.*783G= (n.*783G=) n.241G= c.779G= (p.Gly260=) c.694-855G= (n.694-855G=) c.677G= (p.Gly226=) | |
| 7 | g.33015686C>G | CA367190422 | NT5C3A | c.740G>C (p.Gly247Ala) c.878G>C (p.Gly293Ala) c.776G>C (p.Gly259Ala) c.893G>C (p.Gly298Ala) c.*783G>C (n.*783G>C) n.241G>C c.779G>C (p.Gly260Ala) c.694-855G>C (n.694-855G>C) c.677G>C (p.Gly226Ala) | |
| 7 | g.33015686C>T | CA367190424 | NT5C3A | c.740G>A (p.Gly247Glu) c.878G>A (p.Gly293Glu) c.776G>A (p.Gly259Glu) c.893G>A (p.Gly298Glu) c.*783G>A (n.*783G>A) n.241G>A c.779G>A (p.Gly260Glu) c.694-855G>A (n.694-855G>A) c.677G>A (p.Gly226Glu) | |
| 7 | g.33015687C>A | CA367190430 | NT5C3A | c.739G>T (p.Gly247Ter) c.877G>T (p.Gly293Ter) c.775G>T (p.Gly259Ter) c.892G>T (p.Gly298Ter) c.*782G>T (n.*782G>T) n.240G>T c.778G>T (p.Gly260Ter) c.694-856G>T (n.694-856G>T) c.676G>T (p.Gly226Ter) | |
| 7 | g.33015687C= | CA1698574686 | NT5C3A | c.739G= (p.Gly247=) c.877G= (p.Gly293=) c.775G= (p.Gly259=) c.892G= (p.Gly298=) c.*782G= (n.*782G=) n.240G= c.778G= (p.Gly260=) c.694-856G= (n.694-856G=) c.676G= (p.Gly226=) | |
| 7 | g.33015687C>G | CA367190428 | NT5C3A | c.739G>C (p.Gly247Arg) c.877G>C (p.Gly293Arg) c.775G>C (p.Gly259Arg) c.892G>C (p.Gly298Arg) c.*782G>C (n.*782G>C) n.240G>C c.778G>C (p.Gly260Arg) c.694-856G>C (n.694-856G>C) c.676G>C (p.Gly226Arg) | |
| 7 | g.33015687C>T | CA367190426 | NT5C3A | c.739G>A (p.Gly247Arg) c.877G>A (p.Gly293Arg) c.775G>A (p.Gly259Arg) c.892G>A (p.Gly298Arg) c.*782G>A (n.*782G>A) n.240G>A c.778G>A (p.Gly260Arg) c.694-856G>A (n.694-856G>A) c.676G>A (p.Gly226Arg) | dbSNP |
| 7 | g.33015688A>C | CA367190432 | NT5C3A | c.738T>G (p.Ile246Met) c.876T>G (p.Ile292Met) c.774T>G (p.Ile258Met) c.891T>G (p.Ile297Met) c.*781T>G (n.*781T>G) n.239T>G c.777T>G (p.Ile259Met) c.694-857T>G (n.694-857T>G) c.675T>G (p.Ile225Met) | |
| 7 | g.33015688A>G | CA454341293 | NT5C3A | c.738T>C (p.Ile246=) c.876T>C (p.Ile292=) c.774T>C (p.Ile258=) c.891T>C (p.Ile297=) c.*781T>C (n.*781T>C) n.239T>C c.777T>C (p.Ile259=) c.694-857T>C (n.694-857T>C) c.675T>C (p.Ile225=) | |
| 7 | g.33015688A>T | CA454341290 | NT5C3A | c.738T>A (p.Ile246=) c.876T>A (p.Ile292=) c.774T>A (p.Ile258=) c.891T>A (p.Ile297=) c.*781T>A (n.*781T>A) n.239T>A c.777T>A (p.Ile259=) c.694-857T>A (n.694-857T>A) c.675T>A (p.Ile225=) | |
| 7 | g.33015689A>C | CA367190435 | NT5C3A | c.737T>G (p.Ile246Ser) c.875T>G (p.Ile292Ser) c.773T>G (p.Ile258Ser) c.890T>G (p.Ile297Ser) c.*780T>G (n.*780T>G) n.238T>G c.776T>G (p.Ile259Ser) c.694-858T>G (n.694-858T>G) c.674T>G (p.Ile225Ser) | |
| 7 | g.33015689A>G | CA367190438 | NT5C3A | c.737T>C (p.Ile246Thr) c.875T>C (p.Ile292Thr) c.773T>C (p.Ile258Thr) c.890T>C (p.Ile297Thr) c.*780T>C (n.*780T>C) n.238T>C c.776T>C (p.Ile259Thr) c.694-858T>C (n.694-858T>C) c.674T>C (p.Ile225Thr) | gnomAD v4 |
| 7 | g.33015689A>T | CA367190441 | NT5C3A | c.737T>A (p.Ile246Asn) c.875T>A (p.Ile292Asn) c.773T>A (p.Ile258Asn) c.890T>A (p.Ile297Asn) c.*780T>A (n.*780T>A) n.238T>A c.776T>A (p.Ile259Asn) c.694-858T>A (n.694-858T>A) c.674T>A (p.Ile225Asn) | |
| 7 | g.33015690T>A | CA367190443 | NT5C3A | c.736A>T (p.Ile246Phe) c.874A>T (p.Ile292Phe) c.772A>T (p.Ile258Phe) c.889A>T (p.Ile297Phe) c.*779A>T (n.*779A>T) n.237A>T c.775A>T (p.Ile259Phe) c.694-859A>T (n.694-859A>T) c.673A>T (p.Ile225Phe) | |
| 7 | g.33015690T>C | CA156256086 | NT5C3A | c.736A>G (p.Ile246Val) c.874A>G (p.Ile292Val) c.772A>G (p.Ile258Val) c.889A>G (p.Ile297Val) c.*779A>G (n.*779A>G) n.237A>G c.775A>G (p.Ile259Val) c.694-859A>G (n.694-859A>G) c.673A>G (p.Ile225Val) | dbSNP |
| 7 | g.33015690T>G | CA367190447 | NT5C3A | c.736A>C (p.Ile246Leu) c.874A>C (p.Ile292Leu) c.772A>C (p.Ile258Leu) c.889A>C (p.Ile297Leu) c.*779A>C (n.*779A>C) n.237A>C c.775A>C (p.Ile259Leu) c.694-859A>C (n.694-859A>C) c.673A>C (p.Ile225Leu) | |
| 7 | g.33015690T= | CA1698574687 | NT5C3A | c.736A= (p.Ile246=) c.874A= (p.Ile292=) c.772A= (p.Ile258=) c.889A= (p.Ile297=) c.*779A= (n.*779A=) n.237A= c.775A= (p.Ile259=) c.694-859A= (n.694-859A=) c.673A= (p.Ile225=) | |
| 7 | g.33015691T>A | CA367190450 | NT5C3A | c.735A>T (p.Lys245Asn) c.873A>T (p.Lys291Asn) c.771A>T (p.Lys257Asn) c.888A>T (p.Lys296Asn) c.*778A>T (n.*778A>T) n.236A>T c.774A>T (p.Lys258Asn) c.694-860A>T (n.694-860A>T) c.672A>T (p.Lys224Asn) | |
| 7 | g.33015691T>C | CA454341305 | NT5C3A | c.735A>G (p.Lys245=) c.873A>G (p.Lys291=) c.771A>G (p.Lys257=) c.888A>G (p.Lys296=) c.*778A>G (n.*778A>G) n.236A>G c.774A>G (p.Lys258=) c.694-860A>G (n.694-860A>G) c.672A>G (p.Lys224=) | |
| 7 | g.33015691T>G | CA367190451 | NT5C3A | c.735A>C (p.Lys245Asn) c.873A>C (p.Lys291Asn) c.771A>C (p.Lys257Asn) c.888A>C (p.Lys296Asn) c.*778A>C (n.*778A>C) n.236A>C c.774A>C (p.Lys258Asn) c.694-860A>C (n.694-860A>C) c.672A>C (p.Lys224Asn) | |
| 7 | g.33015692T>A | CA367190454 | NT5C3A | c.734A>T (p.Lys245Ile) c.872A>T (p.Lys291Ile) c.770A>T (p.Lys257Ile) c.887A>T (p.Lys296Ile) c.*777A>T (n.*777A>T) n.235A>T c.773A>T (p.Lys258Ile) c.694-861A>T (n.694-861A>T) c.671A>T (p.Lys224Ile) | |
| 7 | g.33015692T>C | CA367190456 | NT5C3A | c.734A>G (p.Lys245Arg) c.872A>G (p.Lys291Arg) c.770A>G (p.Lys257Arg) c.887A>G (p.Lys296Arg) c.*777A>G (n.*777A>G) n.235A>G c.773A>G (p.Lys258Arg) c.694-861A>G (n.694-861A>G) c.671A>G (p.Lys224Arg) | |
| 7 | g.33015692T>G | CA367190457 | NT5C3A | c.734A>C (p.Lys245Thr) c.872A>C (p.Lys291Thr) c.770A>C (p.Lys257Thr) c.887A>C (p.Lys296Thr) c.*777A>C (n.*777A>C) n.235A>C c.773A>C (p.Lys258Thr) c.694-861A>C (n.694-861A>C) c.671A>C (p.Lys224Thr) | |
| 7 | g.33015693T>A | CA367190461 | NT5C3A | c.733A>T (p.Lys245Ter) c.871A>T (p.Lys291Ter) c.769A>T (p.Lys257Ter) c.886A>T (p.Lys296Ter) c.*776A>T (n.*776A>T) n.234A>T c.772A>T (p.Lys258Ter) c.694-862A>T (n.694-862A>T) c.670A>T (p.Lys224Ter) | |
| 7 | g.33015693T>C | CA367190464 | NT5C3A | c.733A>G (p.Lys245Glu) c.871A>G (p.Lys291Glu) c.769A>G (p.Lys257Glu) c.886A>G (p.Lys296Glu) c.*776A>G (n.*776A>G) n.234A>G c.772A>G (p.Lys258Glu) c.694-862A>G (n.694-862A>G) c.670A>G (p.Lys224Glu) | |
| 7 | g.33015693T>G | CA367190460 | NT5C3A | c.733A>C (p.Lys245Gln) c.871A>C (p.Lys291Gln) c.769A>C (p.Lys257Gln) c.886A>C (p.Lys296Gln) c.*776A>C (n.*776A>C) n.234A>C c.772A>C (p.Lys258Gln) c.694-862A>C (n.694-862A>C) c.670A>C (p.Lys224Gln) | |
| 7 | g.33015694C>A | CA454341319 | NT5C3A | c.732G>T (p.Leu244=) c.870G>T (p.Leu290=) c.768G>T (p.Leu256=) c.885G>T (p.Leu295=) c.*775G>T (n.*775G>T) n.233G>T c.771G>T (p.Leu257=) c.694-863G>T (n.694-863G>T) c.669G>T (p.Leu223=) | |
| 7 | g.33015694C>G | CA454341322 | NT5C3A | c.732G>C (p.Leu244=) c.870G>C (p.Leu290=) c.768G>C (p.Leu256=) c.885G>C (p.Leu295=) c.*775G>C (n.*775G>C) n.233G>C c.771G>C (p.Leu257=) c.694-863G>C (n.694-863G>C) c.669G>C (p.Leu223=) | gnomAD v4 |
| 7 | g.33015694C>T | CA454341324 | NT5C3A | c.732G>A (p.Leu244=) c.870G>A (p.Leu290=) c.768G>A (p.Leu256=) c.885G>A (p.Leu295=) c.*775G>A (n.*775G>A) n.233G>A c.771G>A (p.Leu257=) c.694-863G>A (n.694-863G>A) c.669G>A (p.Leu223=) | |
| 7 | g.33015695A>C | CA367190466 | NT5C3A | c.731T>G (p.Leu244Arg) c.869T>G (p.Leu290Arg) c.767T>G (p.Leu256Arg) c.884T>G (p.Leu295Arg) c.*774T>G (n.*774T>G) n.232T>G c.770T>G (p.Leu257Arg) c.694-864T>G (n.694-864T>G) c.668T>G (p.Leu223Arg) | |
| 7 | g.33015695A>G | CA367190468 | NT5C3A | c.731T>C (p.Leu244Pro) c.869T>C (p.Leu290Pro) c.767T>C (p.Leu256Pro) c.884T>C (p.Leu295Pro) c.*774T>C (n.*774T>C) n.232T>C c.770T>C (p.Leu257Pro) c.694-864T>C (n.694-864T>C) c.668T>C (p.Leu223Pro) | |
| 7 | g.33015695A>T | CA367190470 | NT5C3A | c.731T>A (p.Leu244Gln) c.869T>A (p.Leu290Gln) c.767T>A (p.Leu256Gln) c.884T>A (p.Leu295Gln) c.*774T>A (n.*774T>A) n.232T>A c.770T>A (p.Leu257Gln) c.694-864T>A (n.694-864T>A) c.668T>A (p.Leu223Gln) | |
| 7 | g.33015696G>A | CA454341333 | NT5C3A | c.730C>T (p.Leu244=) c.868C>T (p.Leu290=) c.766C>T (p.Leu256=) c.883C>T (p.Leu295=) c.*773C>T (n.*773C>T) n.231C>T c.769C>T (p.Leu257=) c.694-865C>T (n.694-865C>T) c.667C>T (p.Leu223=) | COSMIC COSMIC |
| 7 | g.33015696G>C | CA367190473 | NT5C3A | c.730C>G (p.Leu244Val) c.868C>G (p.Leu290Val) c.766C>G (p.Leu256Val) c.883C>G (p.Leu295Val) c.*773C>G (n.*773C>G) n.231C>G c.769C>G (p.Leu257Val) c.694-865C>G (n.694-865C>G) c.667C>G (p.Leu223Val) | |
| 7 | g.33015696G>T | CA367190474 | NT5C3A | c.730C>A (p.Leu244Met) c.868C>A (p.Leu290Met) c.766C>A (p.Leu256Met) c.883C>A (p.Leu295Met) c.*773C>A (n.*773C>A) n.231C>A c.769C>A (p.Leu257Met) c.694-865C>A (n.694-865C>A) c.667C>A (p.Leu223Met) | gnomAD v4 |
| 7 | g.33015697A= | CA1698574688 | NT5C3A | c.729T= (p.Ile243=) c.867T= (p.Ile289=) c.765T= (p.Ile255=) c.882T= (p.Ile294=) c.*772T= (n.*772T=) n.230T= c.768T= (p.Ile256=) c.694-866T= (n.694-866T=) c.666T= (p.Ile222=) | |
| 7 | g.33015697A>C | CA367190478 | NT5C3A | c.729T>G (p.Ile243Met) c.867T>G (p.Ile289Met) c.765T>G (p.Ile255Met) c.882T>G (p.Ile294Met) c.*772T>G (n.*772T>G) n.230T>G c.768T>G (p.Ile256Met) c.694-866T>G (n.694-866T>G) c.666T>G (p.Ile222Met) | |
| 7 | g.33015697A>G | CA454341341 | NT5C3A | c.729T>C (p.Ile243=) c.867T>C (p.Ile289=) c.765T>C (p.Ile255=) c.882T>C (p.Ile294=) c.*772T>C (n.*772T>C) n.230T>C c.768T>C (p.Ile256=) c.694-866T>C (n.694-866T>C) c.666T>C (p.Ile222=) | dbSNP |
| 7 | g.33015697A>T | CA454341343 | NT5C3A | c.729T>A (p.Ile243=) c.867T>A (p.Ile289=) c.765T>A (p.Ile255=) c.882T>A (p.Ile294=) c.*772T>A (n.*772T>A) n.230T>A c.768T>A (p.Ile256=) c.694-866T>A (n.694-866T>A) c.666T>A (p.Ile222=) | |
| 7 | g.33015698A>C | CA367190483 | NT5C3A | c.728T>G (p.Ile243Ser) c.866T>G (p.Ile289Ser) c.764T>G (p.Ile255Ser) c.881T>G (p.Ile294Ser) c.*771T>G (n.*771T>G) n.229T>G c.767T>G (p.Ile256Ser) c.694-867T>G (n.694-867T>G) c.665T>G (p.Ile222Ser) | |
| 7 | g.33015698A>G | CA367190481 | NT5C3A | c.728T>C (p.Ile243Thr) c.866T>C (p.Ile289Thr) c.764T>C (p.Ile255Thr) c.881T>C (p.Ile294Thr) c.*771T>C (n.*771T>C) n.229T>C c.767T>C (p.Ile256Thr) c.694-867T>C (n.694-867T>C) c.665T>C (p.Ile222Thr) | |
| 7 | g.33015698A>T | CA367190482 | NT5C3A | c.728T>A (p.Ile243Asn) c.866T>A (p.Ile289Asn) c.764T>A (p.Ile255Asn) c.881T>A (p.Ile294Asn) c.*771T>A (n.*771T>A) n.229T>A c.767T>A (p.Ile256Asn) c.694-867T>A (n.694-867T>A) c.665T>A (p.Ile222Asn) | |
| 7 | g.33015699T>A | CA367190487 | NT5C3A | c.727A>T (p.Ile243Phe) c.865A>T (p.Ile289Phe) c.763A>T (p.Ile255Phe) c.880A>T (p.Ile294Phe) c.*770A>T (n.*770A>T) n.228A>T c.766A>T (p.Ile256Phe) c.694-868A>T (n.694-868A>T) c.664A>T (p.Ile222Phe) | |
| 7 | g.33015699T>C | CA4213301 | NT5C3A | c.727A>G (p.Ile243Val) c.865A>G (p.Ile289Val) c.763A>G (p.Ile255Val) c.880A>G (p.Ile294Val) c.*770A>G (n.*770A>G) n.228A>G c.766A>G (p.Ile256Val) c.694-868A>G (n.694-868A>G) c.664A>G (p.Ile222Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.33015699T>G | CA367190490 | NT5C3A | c.727A>C (p.Ile243Leu) c.865A>C (p.Ile289Leu) c.763A>C (p.Ile255Leu) c.880A>C (p.Ile294Leu) c.*770A>C (n.*770A>C) n.228A>C c.766A>C (p.Ile256Leu) c.694-868A>C (n.694-868A>C) c.664A>C (p.Ile222Leu) | |
| 7 | g.33015699T= | CA1698574689 | NT5C3A | c.727A= (p.Ile243=) c.865A= (p.Ile289=) c.763A= (p.Ile255=) c.880A= (p.Ile294=) c.*770A= (n.*770A=) n.228A= c.766A= (p.Ile256=) c.694-868A= (n.694-868A=) c.664A= (p.Ile222=) | |
| 7 | g.33015700G>A | CA454341357 | NT5C3A | c.726C>T (p.His242=) c.864C>T (p.His288=) c.762C>T (p.His254=) c.879C>T (p.His293=) c.*769C>T (n.*769C>T) n.227C>T c.765C>T (p.His255=) c.694-869C>T (n.694-869C>T) c.663C>T (p.His221=) | gnomAD v4 |
| 7 | g.33015700G>C | CA367190493 | NT5C3A | c.726C>G (p.His242Gln) c.864C>G (p.His288Gln) c.762C>G (p.His254Gln) c.879C>G (p.His293Gln) c.*769C>G (n.*769C>G) n.227C>G c.765C>G (p.His255Gln) c.694-869C>G (n.694-869C>G) c.663C>G (p.His221Gln) | |
| 7 | g.33015700G= | CA1698574690 | NT5C3A | c.726C= (p.His242=) c.864C= (p.His288=) c.762C= (p.His254=) c.879C= (p.His293=) c.*769C= (n.*769C=) n.227C= c.765C= (p.His255=) c.694-869C= (n.694-869C=) c.663C= (p.His221=) | |
| 7 | g.33015700G>T | CA367190495 | NT5C3A | c.726C>A (p.His242Gln) c.864C>A (p.His288Gln) c.762C>A (p.His254Gln) c.879C>A (p.His293Gln) c.*769C>A (n.*769C>A) n.227C>A c.765C>A (p.His255Gln) c.694-869C>A (n.694-869C>A) c.663C>A (p.His221Gln) | dbSNP |
| 7 | g.33015701T>A | CA367190498 | NT5C3A | c.725A>T (p.His242Leu) c.863A>T (p.His288Leu) c.761A>T (p.His254Leu) c.878A>T (p.His293Leu) c.*768A>T (n.*768A>T) n.226A>T c.764A>T (p.His255Leu) c.694-870A>T (n.694-870A>T) c.662A>T (p.His221Leu) | |
| 7 | g.33015701T>C | CA367190502 | NT5C3A | c.725A>G (p.His242Arg) c.863A>G (p.His288Arg) c.761A>G (p.His254Arg) c.878A>G (p.His293Arg) c.*768A>G (n.*768A>G) n.226A>G c.764A>G (p.His255Arg) c.694-870A>G (n.694-870A>G) c.662A>G (p.His221Arg) | |
| 7 | g.33015701T>G | CA367190500 | NT5C3A | c.725A>C (p.His242Pro) c.863A>C (p.His288Pro) c.761A>C (p.His254Pro) c.878A>C (p.His293Pro) c.*768A>C (n.*768A>C) n.226A>C c.764A>C (p.His255Pro) c.694-870A>C (n.694-870A>C) c.662A>C (p.His221Pro) | |
| 7 | g.33015702G>A | CA367190511 | NT5C3A | c.724C>T (p.His242Tyr) c.862C>T (p.His288Tyr) c.760C>T (p.His254Tyr) c.877C>T (p.His293Tyr) c.*767C>T (n.*767C>T) n.225C>T c.763C>T (p.His255Tyr) c.694-871C>T (n.694-871C>T) c.661C>T (p.His221Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.33015702G>C | CA367190514 | NT5C3A | c.724C>G (p.His242Asp) c.862C>G (p.His288Asp) c.760C>G (p.His254Asp) c.877C>G (p.His293Asp) c.*767C>G (n.*767C>G) n.225C>G c.763C>G (p.His255Asp) c.694-871C>G (n.694-871C>G) c.661C>G (p.His221Asp) | |
| 7 | g.33015702G= | CA1698574691 | NT5C3A | c.724C= (p.His242=) c.862C= (p.His288=) c.760C= (p.His254=) c.877C= (p.His293=) c.*767C= (n.*767C=) n.225C= c.763C= (p.His255=) c.694-871C= (n.694-871C=) c.661C= (p.His221=) | |
| 7 | g.33015702G>T | CA367190515 | NT5C3A | c.724C>A (p.His242Asn) c.862C>A (p.His288Asn) c.760C>A (p.His254Asn) c.877C>A (p.His293Asn) c.*767C>A (n.*767C>A) n.225C>A c.763C>A (p.His255Asn) c.694-871C>A (n.694-871C>A) c.661C>A (p.His221Asn) | gnomAD v4 |
| 7 | g.33015703C>A | CA367190519 | NT5C3A | c.723G>T (p.Glu241Asp) c.861G>T (p.Glu287Asp) c.759G>T (p.Glu253Asp) c.876G>T (p.Glu292Asp) c.*766G>T (n.*766G>T) n.224G>T c.762G>T (p.Glu254Asp) c.694-872G>T (n.694-872G>T) c.660G>T (p.Glu220Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.33015703C= | CA1698574692 | NT5C3A | c.723G= (p.Glu241=) c.861G= (p.Glu287=) c.759G= (p.Glu253=) c.876G= (p.Glu292=) c.*766G= (n.*766G=) n.224G= c.762G= (p.Glu254=) c.694-872G= (n.694-872G=) c.660G= (p.Glu220=) | |
| 7 | g.33015703C>G | CA367190521 | NT5C3A | c.723G>C (p.Glu241Asp) c.861G>C (p.Glu287Asp) c.759G>C (p.Glu253Asp) c.876G>C (p.Glu292Asp) c.*766G>C (n.*766G>C) n.224G>C c.762G>C (p.Glu254Asp) c.694-872G>C (n.694-872G>C) c.660G>C (p.Glu220Asp) | |
| 7 | g.33015703C>T | CA4213302 | NT5C3A | c.723G>A (p.Glu241=) c.861G>A (p.Glu287=) c.759G>A (p.Glu253=) c.876G>A (p.Glu292=) c.*766G>A (n.*766G>A) n.224G>A c.762G>A (p.Glu254=) c.694-872G>A (n.694-872G>A) c.660G>A (p.Glu220=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.33015704T>A | CA367190527 | NT5C3A | c.722A>T (p.Glu241Val) c.860A>T (p.Glu287Val) c.758A>T (p.Glu253Val) c.875A>T (p.Glu292Val) c.*765A>T (n.*765A>T) n.223A>T c.761A>T (p.Glu254Val) c.694-873A>T (n.694-873A>T) c.659A>T (p.Glu220Val) | |
| 7 | g.33015704T>C | CA367190529 | NT5C3A | c.722A>G (p.Glu241Gly) c.860A>G (p.Glu287Gly) c.758A>G (p.Glu253Gly) c.875A>G (p.Glu292Gly) c.*765A>G (n.*765A>G) n.223A>G c.761A>G (p.Glu254Gly) c.694-873A>G (n.694-873A>G) c.659A>G (p.Glu220Gly) | |
| 7 | g.33015704T>G | CA367190531 | NT5C3A | c.722A>C (p.Glu241Ala) c.860A>C (p.Glu287Ala) c.758A>C (p.Glu253Ala) c.875A>C (p.Glu292Ala) c.*765A>C (n.*765A>C) n.223A>C c.761A>C (p.Glu254Ala) c.694-873A>C (n.694-873A>C) c.659A>C (p.Glu220Ala) | |
| 7 | g.33015705C>A | CA367190534 | NT5C3A | c.721G>T (p.Glu241Ter) c.859G>T (p.Glu287Ter) c.757G>T (p.Glu253Ter) c.874G>T (p.Glu292Ter) c.*764G>T (n.*764G>T) n.222G>T c.760G>T (p.Glu254Ter) c.694-874G>T (n.694-874G>T) c.658G>T (p.Glu220Ter) | COSMIC COSMIC |
| 7 | g.33015705C= | CA1698574693 | NT5C3A | c.721G= (p.Glu241=) c.859G= (p.Glu287=) c.757G= (p.Glu253=) c.874G= (p.Glu292=) c.*764G= (n.*764G=) n.222G= c.760G= (p.Glu254=) c.694-874G= (n.694-874G=) c.658G= (p.Glu220=) | |
| 7 | g.33015705C>G | CA367190536 | NT5C3A | c.721G>C (p.Glu241Gln) c.859G>C (p.Glu287Gln) c.757G>C (p.Glu253Gln) c.874G>C (p.Glu292Gln) c.*764G>C (n.*764G>C) n.222G>C c.760G>C (p.Glu254Gln) c.694-874G>C (n.694-874G>C) c.658G>C (p.Glu220Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.33015705C>T | CA367190538 | NT5C3A | c.721G>A (p.Glu241Lys) c.859G>A (p.Glu287Lys) c.757G>A (p.Glu253Lys) c.874G>A (p.Glu292Lys) c.*764G>A (n.*764G>A) n.222G>A c.760G>A (p.Glu254Lys) c.694-874G>A (n.694-874G>A) c.658G>A (p.Glu220Lys) | |
| 7 | g.33015706A>C | CA454341385 | NT5C3A | c.720T>G (p.Val240=) c.858T>G (p.Val286=) c.756T>G (p.Val252=) c.873T>G (p.Val291=) c.*763T>G (n.*763T>G) n.221T>G c.759T>G (p.Val253=) c.694-875T>G (n.694-875T>G) c.657T>G (p.Val219=) | |
| 7 | g.33015706A>G | CA454341390 | NT5C3A | c.720T>C (p.Val240=) c.858T>C (p.Val286=) c.756T>C (p.Val252=) c.873T>C (p.Val291=) c.*763T>C (n.*763T>C) n.221T>C c.759T>C (p.Val253=) c.694-875T>C (n.694-875T>C) c.657T>C (p.Val219=) | |
| 7 | g.33015706A>T | CA454341392 | NT5C3A | c.720T>A (p.Val240=) c.858T>A (p.Val286=) c.756T>A (p.Val252=) c.873T>A (p.Val291=) c.*763T>A (n.*763T>A) n.221T>A c.759T>A (p.Val253=) c.694-875T>A (n.694-875T>A) c.657T>A (p.Val219=) | |
| 7 | g.33015707A>C | CA367190545 | NT5C3A | c.719T>G (p.Val240Gly) c.857T>G (p.Val286Gly) c.755T>G (p.Val252Gly) c.872T>G (p.Val291Gly) c.*762T>G (n.*762T>G) n.220T>G c.758T>G (p.Val253Gly) c.694-876T>G (n.694-876T>G) c.656T>G (p.Val219Gly) | |
| 7 | g.33015707A>G | CA367190544 | NT5C3A | c.719T>C (p.Val240Ala) c.857T>C (p.Val286Ala) c.755T>C (p.Val252Ala) c.872T>C (p.Val291Ala) c.*762T>C (n.*762T>C) n.220T>C c.758T>C (p.Val253Ala) c.694-876T>C (n.694-876T>C) c.656T>C (p.Val219Ala) | gnomAD v4 |
| 7 | g.33015707A>T | CA367190541 | NT5C3A | c.719T>A (p.Val240Asp) c.857T>A (p.Val286Asp) c.755T>A (p.Val252Asp) c.872T>A (p.Val291Asp) c.*762T>A (n.*762T>A) n.220T>A c.758T>A (p.Val253Asp) c.694-876T>A (n.694-876T>A) c.656T>A (p.Val219Asp) | |
| 7 | g.33015708C>A | CA367190549 | NT5C3A | c.718G>T (p.Val240Phe) c.856G>T (p.Val286Phe) c.754G>T (p.Val252Phe) c.871G>T (p.Val291Phe) c.*761G>T (n.*761G>T) n.219G>T c.757G>T (p.Val253Phe) c.694-877G>T (n.694-877G>T) c.655G>T (p.Val219Phe) | |
| 7 | g.33015708C= | CA1698574694 | NT5C3A | c.718G= (p.Val240=) c.856G= (p.Val286=) c.754G= (p.Val252=) c.871G= (p.Val291=) c.*761G= (n.*761G=) n.219G= c.757G= (p.Val253=) c.694-877G= (n.694-877G=) c.655G= (p.Val219=) | |
| 7 | g.33015708C>G | CA367190547 | NT5C3A | c.718G>C (p.Val240Leu) c.856G>C (p.Val286Leu) c.754G>C (p.Val252Leu) c.871G>C (p.Val291Leu) c.*761G>C (n.*761G>C) n.219G>C c.757G>C (p.Val253Leu) c.694-877G>C (n.694-877G>C) c.655G>C (p.Val219Leu) | |
| 7 | g.33015708C>T | CA4213303 | NT5C3A | c.718G>A (p.Val240Ile) c.856G>A (p.Val286Ile) c.754G>A (p.Val252Ile) c.871G>A (p.Val291Ile) c.*761G>A (n.*761G>A) n.219G>A c.757G>A (p.Val253Ile) c.694-877G>A (n.694-877G>A) c.655G>A (p.Val219Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.33015709A>C | CA367190554 | NT5C3A | c.717T>G (p.Asn239Lys) c.855T>G (p.Asn285Lys) c.753T>G (p.Asn251Lys) c.870T>G (p.Asn290Lys) c.*760T>G (n.*760T>G) n.218T>G c.756T>G (p.Asn252Lys) c.694-878T>G (n.694-878T>G) c.654T>G (p.Asn218Lys) | |
| 7 | g.33015709A>G | CA454341406 | NT5C3A | c.717T>C (p.Asn239=) c.855T>C (p.Asn285=) c.753T>C (p.Asn251=) c.870T>C (p.Asn290=) c.*760T>C (n.*760T>C) n.218T>C c.756T>C (p.Asn252=) c.694-878T>C (n.694-878T>C) c.654T>C (p.Asn218=) | gnomAD v4 |
| 7 | g.33015709A>T | CA367190555 | NT5C3A | c.717T>A (p.Asn239Lys) c.855T>A (p.Asn285Lys) c.753T>A (p.Asn251Lys) c.870T>A (p.Asn290Lys) c.*760T>A (n.*760T>A) n.218T>A c.756T>A (p.Asn252Lys) c.694-878T>A (n.694-878T>A) c.654T>A (p.Asn218Lys) | |
| 7 | g.33015710T>A | CA367190559 | NT5C3A | c.716A>T (p.Asn239Ile) c.854A>T (p.Asn285Ile) c.752A>T (p.Asn251Ile) c.869A>T (p.Asn290Ile) c.*759A>T (n.*759A>T) n.217A>T c.755A>T (p.Asn252Ile) c.694-879A>T (n.694-879A>T) c.653A>T (p.Asn218Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.33015710T>C | CA4213304 | NT5C3A | c.716A>G (p.Asn239Ser) c.854A>G (p.Asn285Ser) c.752A>G (p.Asn251Ser) c.869A>G (p.Asn290Ser) c.*759A>G (n.*759A>G) n.217A>G c.755A>G (p.Asn252Ser) c.694-879A>G (n.694-879A>G) c.653A>G (p.Asn218Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 7 | g.33015710T>G | CA367190565 | NT5C3A | c.716A>C (p.Asn239Thr) c.854A>C (p.Asn285Thr) c.752A>C (p.Asn251Thr) c.869A>C (p.Asn290Thr) c.*759A>C (n.*759A>C) n.217A>C c.755A>C (p.Asn252Thr) c.694-879A>C (n.694-879A>C) c.653A>C (p.Asn218Thr) | |
| 7 | g.33015710T= | CA1698574695 | NT5C3A | c.716A= (p.Asn239=) c.854A= (p.Asn285=) c.752A= (p.Asn251=) c.869A= (p.Asn290=) c.*759A= (n.*759A=) n.217A= c.755A= (p.Asn252=) c.694-879A= (n.694-879A=) c.653A= (p.Asn218=) | |
| 7 | g.33015711T>A | CA367190569 | NT5C3A | c.715A>T (p.Asn239Tyr) c.853A>T (p.Asn285Tyr) c.751A>T (p.Asn251Tyr) c.868A>T (p.Asn290Tyr) c.*758A>T (n.*758A>T) n.216A>T c.754A>T (p.Asn252Tyr) c.694-880A>T (n.694-880A>T) c.652A>T (p.Asn218Tyr) | dbSNP gnomAD v4 |
| 7 | g.33015711T>C | CA367190572 | NT5C3A | c.715A>G (p.Asn239Asp) c.853A>G (p.Asn285Asp) c.751A>G (p.Asn251Asp) c.868A>G (p.Asn290Asp) c.*758A>G (n.*758A>G) n.216A>G c.754A>G (p.Asn252Asp) c.694-880A>G (n.694-880A>G) c.652A>G (p.Asn218Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.33015711T>G | CA367190583 | NT5C3A | c.715A>C (p.Asn239His) c.853A>C (p.Asn285His) c.751A>C (p.Asn251His) c.868A>C (p.Asn290His) c.*758A>C (n.*758A>C) n.216A>C c.754A>C (p.Asn252His) c.694-880A>C (n.694-880A>C) c.652A>C (p.Asn218His) | dbSNP gnomAD v4 |
| 7 | g.33015711T= | CA1698574696 | NT5C3A | c.715A= (p.Asn239=) c.853A= (p.Asn285=) c.751A= (p.Asn251=) c.868A= (p.Asn290=) c.*758A= (n.*758A=) n.216A= c.754A= (p.Asn252=) c.694-880A= (n.694-880A=) c.652A= (p.Asn218=) | |
| 7 | g.33015712G>A | CA454341420 | NT5C3A | c.714C>T (p.Ala238=) c.852C>T (p.Ala284=) c.750C>T (p.Ala250=) c.867C>T (p.Ala289=) c.*757C>T (n.*757C>T) n.215C>T c.753C>T (p.Ala251=) c.694-881C>T (n.694-881C>T) c.651C>T (p.Ala217=) | dbSNP |
| 7 | g.33015712G>C | CA454341422 | NT5C3A | c.714C>G (p.Ala238=) c.852C>G (p.Ala284=) c.750C>G (p.Ala250=) c.867C>G (p.Ala289=) c.*757C>G (n.*757C>G) n.215C>G c.753C>G (p.Ala251=) c.694-881C>G (n.694-881C>G) c.651C>G (p.Ala217=) | |
| 7 | g.33015712G= | CA1698574697 | NT5C3A | c.714C= (p.Ala238=) c.852C= (p.Ala284=) c.750C= (p.Ala250=) c.867C= (p.Ala289=) c.*757C= (n.*757C=) n.215C= c.753C= (p.Ala251=) c.694-881C= (n.694-881C=) c.651C= (p.Ala217=) | |
| 7 | g.33015712G>T | CA454341425 | NT5C3A | c.714C>A (p.Ala238=) c.852C>A (p.Ala284=) c.750C>A (p.Ala250=) c.867C>A (p.Ala289=) c.*757C>A (n.*757C>A) n.215C>A c.753C>A (p.Ala251=) c.694-881C>A (n.694-881C>A) c.651C>A (p.Ala217=) | |
| 7 | g.33015713G>A | CA367190586 | NT5C3A | c.713C>T (p.Ala238Val) c.851C>T (p.Ala284Val) c.749C>T (p.Ala250Val) c.866C>T (p.Ala289Val) c.*756C>T (n.*756C>T) n.214C>T c.752C>T (p.Ala251Val) c.694-882C>T (n.694-882C>T) c.650C>T (p.Ala217Val) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.33015713G>C | CA367190587 | NT5C3A | c.713C>G (p.Ala238Gly) c.851C>G (p.Ala284Gly) c.749C>G (p.Ala250Gly) c.866C>G (p.Ala289Gly) c.*756C>G (n.*756C>G) n.214C>G c.752C>G (p.Ala251Gly) c.694-882C>G (n.694-882C>G) c.650C>G (p.Ala217Gly) | |
| 7 | g.33015713G= | CA1698574698 | NT5C3A | c.713C= (p.Ala238=) c.851C= (p.Ala284=) c.749C= (p.Ala250=) c.866C= (p.Ala289=) c.*756C= (n.*756C=) n.214C= c.752C= (p.Ala251=) c.694-882C= (n.694-882C=) c.650C= (p.Ala217=) | |
| 7 | g.33015713G>T | CA367190588 | NT5C3A | c.713C>A (p.Ala238Asp) c.851C>A (p.Ala284Asp) c.749C>A (p.Ala250Asp) c.866C>A (p.Ala289Asp) c.*756C>A (n.*756C>A) n.214C>A c.752C>A (p.Ala251Asp) c.694-882C>A (n.694-882C>A) c.650C>A (p.Ala217Asp) | |
| 7 | g.33015714C>A | CA367190592 | NT5C3A | c.712G>T (p.Ala238Ser) c.850G>T (p.Ala284Ser) c.748G>T (p.Ala250Ser) c.865G>T (p.Ala289Ser) c.*755G>T (n.*755G>T) n.213G>T c.751G>T (p.Ala251Ser) c.694-883G>T (n.694-883G>T) c.649G>T (p.Ala217Ser) | |
| 7 | g.33015714C= | CA1698574699 | NT5C3A | c.712G= (p.Ala238=) c.850G= (p.Ala284=) c.748G= (p.Ala250=) c.865G= (p.Ala289=) c.*755G= (n.*755G=) n.213G= c.751G= (p.Ala251=) c.694-883G= (n.694-883G=) c.649G= (p.Ala217=) | |
| 7 | g.33015714C>G | CA367190590 | NT5C3A | c.712G>C (p.Ala238Pro) c.850G>C (p.Ala284Pro) c.748G>C (p.Ala250Pro) c.865G>C (p.Ala289Pro) c.*755G>C (n.*755G>C) n.213G>C c.751G>C (p.Ala251Pro) c.694-883G>C (n.694-883G>C) c.649G>C (p.Ala217Pro) | |
| 7 | g.33015714C>T | CA367190589 | NT5C3A | c.712G>A (p.Ala238Thr) c.850G>A (p.Ala284Thr) c.748G>A (p.Ala250Thr) c.865G>A (p.Ala289Thr) c.*755G>A (n.*755G>A) n.213G>A c.751G>A (p.Ala251Thr) c.694-883G>A (n.694-883G>A) c.649G>A (p.Ala217Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.33015715C>A | CA454341437 | NT5C3A | c.711G>T (p.Val237=) c.849G>T (p.Val283=) c.747G>T (p.Val249=) c.864G>T (p.Val288=) c.*754G>T (n.*754G>T) n.212G>T c.750G>T (p.Val250=) c.694-884G>T (n.694-884G>T) c.648G>T (p.Val216=) | |
| 7 | g.33015715C>G | CA454341442 | NT5C3A | c.711G>C (p.Val237=) c.849G>C (p.Val283=) c.747G>C (p.Val249=) c.864G>C (p.Val288=) c.*754G>C (n.*754G>C) n.212G>C c.750G>C (p.Val250=) c.694-884G>C (n.694-884G>C) c.648G>C (p.Val216=) | |
| 7 | g.33015715C>T | CA454341440 | NT5C3A | c.711G>A (p.Val237=) c.849G>A (p.Val283=) c.747G>A (p.Val249=) c.864G>A (p.Val288=) c.*754G>A (n.*754G>A) n.212G>A c.750G>A (p.Val250=) c.694-884G>A (n.694-884G>A) c.648G>A (p.Val216=) | COSMIC COSMIC |
| 7 | g.33015716A>C | CA367190595 | NT5C3A | c.710T>G (p.Val237Gly) c.848T>G (p.Val283Gly) c.746T>G (p.Val249Gly) c.863T>G (p.Val288Gly) c.*753T>G (n.*753T>G) n.211T>G c.749T>G (p.Val250Gly) c.694-885T>G (n.694-885T>G) c.647T>G (p.Val216Gly) | |
| 7 | g.33015716A>G | CA367190598 | NT5C3A | c.710T>C (p.Val237Ala) c.848T>C (p.Val283Ala) c.746T>C (p.Val249Ala) c.863T>C (p.Val288Ala) c.*753T>C (n.*753T>C) n.211T>C c.749T>C (p.Val250Ala) c.694-885T>C (n.694-885T>C) c.647T>C (p.Val216Ala) | |
| 7 | g.33015716A>T | CA367190600 | NT5C3A | c.710T>A (p.Val237Glu) c.848T>A (p.Val283Glu) c.746T>A (p.Val249Glu) c.863T>A (p.Val288Glu) c.*753T>A (n.*753T>A) n.211T>A c.749T>A (p.Val250Glu) c.694-885T>A (n.694-885T>A) c.647T>A (p.Val216Glu) | |
| 7 | g.33015717C>A | CA367190607 | NT5C3A | c.709G>T (p.Val237Leu) c.847G>T (p.Val283Leu) c.745G>T (p.Val249Leu) c.862G>T (p.Val288Leu) c.*752G>T (n.*752G>T) n.210G>T c.748G>T (p.Val250Leu) c.694-886G>T (n.694-886G>T) c.646G>T (p.Val216Leu) | |
| 7 | g.33015717C>G | CA367190608 | NT5C3A | c.709G>C (p.Val237Leu) c.847G>C (p.Val283Leu) c.745G>C (p.Val249Leu) c.862G>C (p.Val288Leu) c.*752G>C (n.*752G>C) n.210G>C c.748G>C (p.Val250Leu) c.694-886G>C (n.694-886G>C) c.646G>C (p.Val216Leu) | |
| 7 | g.33015717C>T | CA367190609 | NT5C3A | c.709G>A (p.Val237Met) c.847G>A (p.Val283Met) c.745G>A (p.Val249Met) c.862G>A (p.Val288Met) c.*752G>A (n.*752G>A) n.210G>A c.748G>A (p.Val250Met) c.694-886G>A (n.694-886G>A) c.646G>A (p.Val216Met) | |
| 7 | g.33015718T>A | CA454341453 | NT5C3A | c.708A>T (p.Gly236=) c.846A>T (p.Gly282=) c.744A>T (p.Gly248=) c.861A>T (p.Gly287=) c.*751A>T (n.*751A>T) n.209A>T c.747A>T (p.Gly249=) c.694-887A>T (n.694-887A>T) c.645A>T (p.Gly215=) | |
| 7 | g.33015718T>C | CA454341455 | NT5C3A | c.708A>G (p.Gly236=) c.846A>G (p.Gly282=) c.744A>G (p.Gly248=) c.861A>G (p.Gly287=) c.*751A>G (n.*751A>G) n.209A>G c.747A>G (p.Gly249=) c.694-887A>G (n.694-887A>G) c.645A>G (p.Gly215=) | gnomAD v4 |
| 7 | g.33015718T>G | CA454341456 | NT5C3A | c.708A>C (p.Gly236=) c.846A>C (p.Gly282=) c.744A>C (p.Gly248=) c.861A>C (p.Gly287=) c.*751A>C (n.*751A>C) n.209A>C c.747A>C (p.Gly249=) c.694-887A>C (n.694-887A>C) c.645A>C (p.Gly215=) | |
| 7 | g.33015718T= | CA1698574700 | NT5C3A | c.708A= (p.Gly236=) c.846A= (p.Gly282=) c.744A= (p.Gly248=) c.861A= (p.Gly287=) c.*751A= (n.*751A=) n.209A= c.747A= (p.Gly249=) c.694-887A= (n.694-887A=) c.645A= (p.Gly215=) | |
| 7 | g.33015719C>A | CA367190614 | NT5C3A | c.707G>T (p.Gly236Val) c.845G>T (p.Gly282Val) c.743G>T (p.Gly248Val) c.860G>T (p.Gly287Val) c.*750G>T (n.*750G>T) n.208G>T c.746G>T (p.Gly249Val) c.694-888G>T (n.694-888G>T) c.644G>T (p.Gly215Val) | |
| 7 | g.33015719C>G | CA367190617 | NT5C3A | c.707G>C (p.Gly236Ala) c.845G>C (p.Gly282Ala) c.743G>C (p.Gly248Ala) c.860G>C (p.Gly287Ala) c.*750G>C (n.*750G>C) n.208G>C c.746G>C (p.Gly249Ala) c.694-888G>C (n.694-888G>C) c.644G>C (p.Gly215Ala) | |
| 7 | g.33015719C>T | CA367190620 | NT5C3A | c.707G>A (p.Gly236Glu) c.845G>A (p.Gly282Glu) c.743G>A (p.Gly248Glu) c.860G>A (p.Gly287Glu) c.*750G>A (n.*750G>A) n.208G>A c.746G>A (p.Gly249Glu) c.694-888G>A (n.694-888G>A) c.644G>A (p.Gly215Glu) | |
| 7 | g.33015719_33015720dup | CA116887 | NT5C3A | c.706_707dup (p.Val237GlufsTer9) c.844_845dup (p.Val283GlufsTer9) c.742_743dup (p.Val249GlufsTer9) c.859_860dup (p.Val288GlufsTer9) c.*749_*750dup (n.*749_*750dup) n.207_208dup c.745_746dup (p.Val250GlufsTer9) c.694-889_694-888dup (n.694-889_694-888dup) c.643_644dup (p.Val216GlufsTer9) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.33015720C>A | CA367190624 | NT5C3A | c.706G>T (p.Gly236Ter) c.844G>T (p.Gly282Ter) c.742G>T (p.Gly248Ter) c.859G>T (p.Gly287Ter) c.*749G>T (n.*749G>T) n.207G>T c.745G>T (p.Gly249Ter) c.694-889G>T (n.694-889G>T) c.643G>T (p.Gly215Ter) | |
| 7 | g.33015720C>G | CA367190634 | NT5C3A | c.706G>C (p.Gly236Arg) c.844G>C (p.Gly282Arg) c.742G>C (p.Gly248Arg) c.859G>C (p.Gly287Arg) c.*749G>C (n.*749G>C) n.207G>C c.745G>C (p.Gly249Arg) c.694-889G>C (n.694-889G>C) c.643G>C (p.Gly215Arg) | |
| 7 | g.33015720C>T | CA367190638 | NT5C3A | c.706G>A (p.Gly236Arg) c.844G>A (p.Gly282Arg) c.742G>A (p.Gly248Arg) c.859G>A (p.Gly287Arg) c.*749G>A (n.*749G>A) n.207G>A c.745G>A (p.Gly249Arg) c.694-889G>A (n.694-889G>A) c.643G>A (p.Gly215Arg) | |
| 7 | g.33015721A>C | CA367190656 | NT5C3A | c.705T>G (p.Asp235Glu) c.843T>G (p.Asp281Glu) c.741T>G (p.Asp247Glu) c.858T>G (p.Asp286Glu) c.*748T>G (n.*748T>G) n.206T>G c.744T>G (p.Asp248Glu) c.694-890T>G (n.694-890T>G) c.642T>G (p.Asp214Glu) | |
| 7 | g.33015721A>G | CA454341470 | NT5C3A | c.705T>C (p.Asp235=) c.843T>C (p.Asp281=) c.741T>C (p.Asp247=) c.858T>C (p.Asp286=) c.*748T>C (n.*748T>C) n.206T>C c.744T>C (p.Asp248=) c.694-890T>C (n.694-890T>C) c.642T>C (p.Asp214=) | |
| 7 | g.33015721A>T | CA367190654 | NT5C3A | c.705T>A (p.Asp235Glu) c.843T>A (p.Asp281Glu) c.741T>A (p.Asp247Glu) c.858T>A (p.Asp286Glu) c.*748T>A (n.*748T>A) n.206T>A c.744T>A (p.Asp248Glu) c.694-890T>A (n.694-890T>A) c.642T>A (p.Asp214Glu) | |
| 7 | g.33015722T>A | CA367190661 | NT5C3A | c.704A>T (p.Asp235Val) c.842A>T (p.Asp281Val) c.740A>T (p.Asp247Val) c.857A>T (p.Asp286Val) c.*747A>T (n.*747A>T) n.205A>T c.743A>T (p.Asp248Val) c.694-891A>T (n.694-891A>T) c.641A>T (p.Asp214Val) | |
| 7 | g.33015722T>C | CA367190666 | NT5C3A | c.704A>G (p.Asp235Gly) c.842A>G (p.Asp281Gly) c.740A>G (p.Asp247Gly) c.857A>G (p.Asp286Gly) c.*747A>G (n.*747A>G) n.205A>G c.743A>G (p.Asp248Gly) c.694-891A>G (n.694-891A>G) c.641A>G (p.Asp214Gly) | |
| 7 | g.33015722T>G | CA367190669 | NT5C3A | c.704A>C (p.Asp235Ala) c.842A>C (p.Asp281Ala) c.740A>C (p.Asp247Ala) c.857A>C (p.Asp286Ala) c.*747A>C (n.*747A>C) n.205A>C c.743A>C (p.Asp248Ala) c.694-891A>C (n.694-891A>C) c.641A>C (p.Asp214Ala) | |
| 7 | g.33015723C>A | CA367190673 | NT5C3A | c.703G>T (p.Asp235Tyr) c.841G>T (p.Asp281Tyr) c.739G>T (p.Asp247Tyr) c.856G>T (p.Asp286Tyr) c.*746G>T (n.*746G>T) n.204G>T c.742G>T (p.Asp248Tyr) c.694-892G>T (n.694-892G>T) c.640G>T (p.Asp214Tyr) | |
| 7 | g.33015723C= | CA1698574701 | NT5C3A | c.703G= (p.Asp235=) c.841G= (p.Asp281=) c.739G= (p.Asp247=) c.856G= (p.Asp286=) c.*746G= (n.*746G=) n.204G= c.742G= (p.Asp248=) c.694-892G= (n.694-892G=) c.640G= (p.Asp214=) | |
| 7 | g.33015723C>G | CA367190676 | NT5C3A | c.703G>C (p.Asp235His) c.841G>C (p.Asp281His) c.739G>C (p.Asp247His) c.856G>C (p.Asp286His) c.*746G>C (n.*746G>C) n.204G>C c.742G>C (p.Asp248His) c.694-892G>C (n.694-892G>C) c.640G>C (p.Asp214His) | |
| 7 | g.33015723C>T | CA367190681 | NT5C3A | c.703G>A (p.Asp235Asn) c.841G>A (p.Asp281Asn) c.739G>A (p.Asp247Asn) c.856G>A (p.Asp286Asn) c.*746G>A (n.*746G>A) n.204G>A c.742G>A (p.Asp248Asn) c.694-892G>A (n.694-892G>A) c.640G>A (p.Asp214Asn) | dbSNP gnomAD v4 |
| 7 | g.33015724T>A | CA454341488 | NT5C3A | c.702A>T (p.Ala234=) c.840A>T (p.Ala280=) c.738A>T (p.Ala246=) c.855A>T (p.Ala285=) c.*745A>T (n.*745A>T) n.203A>T c.741A>T (p.Ala247=) c.694-893A>T (n.694-893A>T) c.639A>T (p.Ala213=) | |
| 7 | g.33015724T>C | CA454341491 | NT5C3A | c.702A>G (p.Ala234=) c.840A>G (p.Ala280=) c.738A>G (p.Ala246=) c.855A>G (p.Ala285=) c.*745A>G (n.*745A>G) n.203A>G c.741A>G (p.Ala247=) c.694-893A>G (n.694-893A>G) c.639A>G (p.Ala213=) | |
| 7 | g.33015724T>G | CA454341486 | NT5C3A | c.702A>C (p.Ala234=) c.840A>C (p.Ala280=) c.738A>C (p.Ala246=) c.855A>C (p.Ala285=) c.*745A>C (n.*745A>C) n.203A>C c.741A>C (p.Ala247=) c.694-893A>C (n.694-893A>C) c.639A>C (p.Ala213=) | |
| 7 | g.33015725G>A | CA367190686 | NT5C3A | c.701C>T (p.Ala234Val) c.839C>T (p.Ala280Val) c.737C>T (p.Ala246Val) c.854C>T (p.Ala285Val) c.*744C>T (n.*744C>T) n.202C>T c.740C>T (p.Ala247Val) c.694-894C>T (n.694-894C>T) c.638C>T (p.Ala213Val) | COSMIC COSMIC |
| 7 | g.33015725G>C | CA367190684 | NT5C3A | c.701C>G (p.Ala234Gly) c.839C>G (p.Ala280Gly) c.737C>G (p.Ala246Gly) c.854C>G (p.Ala285Gly) c.*744C>G (n.*744C>G) n.202C>G c.740C>G (p.Ala247Gly) c.694-894C>G (n.694-894C>G) c.638C>G (p.Ala213Gly) | |
| 7 | g.33015725G>T | CA367190683 | NT5C3A | c.701C>A (p.Ala234Glu) c.839C>A (p.Ala280Glu) c.737C>A (p.Ala246Glu) c.854C>A (p.Ala285Glu) c.*744C>A (n.*744C>A) n.202C>A c.740C>A (p.Ala247Glu) c.694-894C>A (n.694-894C>A) c.638C>A (p.Ala213Glu) | gnomAD v4 |
| 7 | g.33015726C>A | CA367190692 | NT5C3A | c.700G>T (p.Ala234Ser) c.838G>T (p.Ala280Ser) c.736G>T (p.Ala246Ser) c.853G>T (p.Ala285Ser) c.*743G>T (n.*743G>T) n.201G>T c.739G>T (p.Ala247Ser) c.694-895G>T (n.694-895G>T) c.637G>T (p.Ala213Ser) | |
| 7 | g.33015726C>G | CA367190695 | NT5C3A | c.700G>C (p.Ala234Pro) c.838G>C (p.Ala280Pro) c.736G>C (p.Ala246Pro) c.853G>C (p.Ala285Pro) c.*743G>C (n.*743G>C) n.201G>C c.739G>C (p.Ala247Pro) c.694-895G>C (n.694-895G>C) c.637G>C (p.Ala213Pro) | |
| 7 | g.33015726C>T | CA367190698 | NT5C3A | c.700G>A (p.Ala234Thr) c.838G>A (p.Ala280Thr) c.736G>A (p.Ala246Thr) c.853G>A (p.Ala285Thr) c.*743G>A (n.*743G>A) n.201G>A c.739G>A (p.Ala247Thr) c.694-895G>A (n.694-895G>A) c.637G>A (p.Ala213Thr) | |
| 7 | g.33015727C>A | CA367190699 | NT5C3A | c.699G>T (p.Met233Ile) c.837G>T (p.Met279Ile) c.735G>T (p.Met245Ile) c.852G>T (p.Met284Ile) c.*742G>T (n.*742G>T) n.200G>T c.738G>T (p.Met246Ile) c.694-896G>T (n.694-896G>T) c.636G>T (p.Met212Ile) | |
| 7 | g.33015727C= | CA1698574702 | NT5C3A | c.699G= (p.Met233=) c.837G= (p.Met279=) c.735G= (p.Met245=) c.852G= (p.Met284=) c.*742G= (n.*742G=) n.200G= c.738G= (p.Met246=) c.694-896G= (n.694-896G=) c.636G= (p.Met212=) | |
| 7 | g.33015727C>G | CA367190707 | NT5C3A | c.699G>C (p.Met233Ile) c.837G>C (p.Met279Ile) c.735G>C (p.Met245Ile) c.852G>C (p.Met284Ile) c.*742G>C (n.*742G>C) n.200G>C c.738G>C (p.Met246Ile) c.694-896G>C (n.694-896G>C) c.636G>C (p.Met212Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.33015727C>T | CA367190709 | NT5C3A | c.699G>A (p.Met233Ile) c.837G>A (p.Met279Ile) c.735G>A (p.Met245Ile) c.852G>A (p.Met284Ile) c.*742G>A (n.*742G>A) n.200G>A c.738G>A (p.Met246Ile) c.694-896G>A (n.694-896G>A) c.636G>A (p.Met212Ile) | |
| 7 | g.33015728A= | CA1698574703 | NT5C3A | c.698T= (p.Met233=) c.836T= (p.Met279=) c.734T= (p.Met245=) c.851T= (p.Met284=) c.*741T= (n.*741T=) n.199T= c.737T= (p.Met246=) c.694-897T= (n.694-897T=) c.635T= (p.Met212=) | |
| 7 | g.33015728A>C | CA367190711 | NT5C3A | c.698T>G (p.Met233Arg) c.836T>G (p.Met279Arg) c.734T>G (p.Met245Arg) c.851T>G (p.Met284Arg) c.*741T>G (n.*741T>G) n.199T>G c.737T>G (p.Met246Arg) c.694-897T>G (n.694-897T>G) c.635T>G (p.Met212Arg) | |
| 7 | g.33015728A>G | CA367190714 | NT5C3A | c.698T>C (p.Met233Thr) c.836T>C (p.Met279Thr) c.734T>C (p.Met245Thr) c.851T>C (p.Met284Thr) c.*741T>C (n.*741T>C) n.199T>C c.737T>C (p.Met246Thr) c.694-897T>C (n.694-897T>C) c.635T>C (p.Met212Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.33015728A>T | CA367190713 | NT5C3A | c.698T>A (p.Met233Lys) c.836T>A (p.Met279Lys) c.734T>A (p.Met245Lys) c.851T>A (p.Met284Lys) c.*741T>A (n.*741T>A) n.199T>A c.737T>A (p.Met246Lys) c.694-897T>A (n.694-897T>A) c.635T>A (p.Met212Lys) | |
| 7 | g.33015729T>A | CA367190715 | NT5C3A | c.697A>T (p.Met233Leu) c.835A>T (p.Met279Leu) c.733A>T (p.Met245Leu) c.850A>T (p.Met284Leu) c.*740A>T (n.*740A>T) n.198A>T c.736A>T (p.Met246Leu) c.694-898A>T (n.694-898A>T) c.634A>T (p.Met212Leu) | |
| 7 | g.33015729T>C | CA4213305 | NT5C3A | c.697A>G (p.Met233Val) c.835A>G (p.Met279Val) c.733A>G (p.Met245Val) c.850A>G (p.Met284Val) c.*740A>G (n.*740A>G) n.198A>G c.736A>G (p.Met246Val) c.694-898A>G (n.694-898A>G) c.634A>G (p.Met212Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.33015729T>G | CA367190716 | NT5C3A | c.697A>C (p.Met233Leu) c.835A>C (p.Met279Leu) c.733A>C (p.Met245Leu) c.850A>C (p.Met284Leu) c.*740A>C (n.*740A>C) n.198A>C c.736A>C (p.Met246Leu) c.694-898A>C (n.694-898A>C) c.634A>C (p.Met212Leu) | |
| 7 | g.33015729T= | CA1698574704 | NT5C3A | c.697A= (p.Met233=) c.835A= (p.Met279=) c.733A= (p.Met245=) c.850A= (p.Met284=) c.*740A= (n.*740A=) n.198A= c.736A= (p.Met246=) c.694-898A= (n.694-898A=) c.634A= (p.Met212=) | |
| 7 | g.33015730T>A | CA367190718 | NT5C3A | c.696A>T (p.Arg232Ser) c.834A>T (p.Arg278Ser) c.732A>T (p.Arg244Ser) c.849A>T (p.Arg283Ser) c.*739A>T (n.*739A>T) n.197A>T c.735A>T (p.Arg245Ser) c.694-899A>T (n.694-899A>T) c.633A>T (p.Arg211Ser) | |
| 7 | g.33015730T>C | CA454341517 | NT5C3A | c.696A>G (p.Arg232=) c.834A>G (p.Arg278=) c.732A>G (p.Arg244=) c.849A>G (p.Arg283=) c.*739A>G (n.*739A>G) n.197A>G c.735A>G (p.Arg245=) c.694-899A>G (n.694-899A>G) c.633A>G (p.Arg211=) | |
| 7 | g.33015730T>G | CA367190720 | NT5C3A | c.696A>C (p.Arg232Ser) c.834A>C (p.Arg278Ser) c.732A>C (p.Arg244Ser) c.849A>C (p.Arg283Ser) c.*739A>C (n.*739A>C) n.197A>C c.735A>C (p.Arg245Ser) c.694-899A>C (n.694-899A>C) c.633A>C (p.Arg211Ser) | |
| 7 | g.33015731C>A | CA367190723 | NT5C3A | c.695G>T (p.Arg232Ile) c.833G>T (p.Arg278Ile) c.731G>T (p.Arg244Ile) c.848G>T (p.Arg283Ile) c.*738G>T (n.*738G>T) n.196G>T c.734G>T (p.Arg245Ile) c.694-900G>T (n.694-900G>T) c.632G>T (p.Arg211Ile) | |
| 7 | g.33015731C>G | CA367190726 | NT5C3A | c.695G>C (p.Arg232Thr) c.833G>C (p.Arg278Thr) c.731G>C (p.Arg244Thr) c.848G>C (p.Arg283Thr) c.*738G>C (n.*738G>C) n.196G>C c.734G>C (p.Arg245Thr) c.694-900G>C (n.694-900G>C) c.632G>C (p.Arg211Thr) | |
| 7 | g.33015731C>T | CA367190728 | NT5C3A | c.695G>A (p.Arg232Lys) c.833G>A (p.Arg278Lys) c.731G>A (p.Arg244Lys) c.848G>A (p.Arg283Lys) c.*738G>A (n.*738G>A) n.196G>A c.734G>A (p.Arg245Lys) c.694-900G>A (n.694-900G>A) c.632G>A (p.Arg211Lys) | |
| 7 | g.33015732T>A | CA367190729 | NT5C3A | c.694A>T (p.Arg232Ter) c.832A>T (p.Arg278Ter) c.730A>T (p.Arg244Ter) c.847A>T (p.Arg283Ter) c.*737A>T (n.*737A>T) n.195A>T c.733A>T (p.Arg245Ter) c.694-901A>T (n.694-901A>T) c.631A>T (p.Arg211Ter) | |
| 7 | g.33015732T>C | CA367190730 | NT5C3A | c.694A>G (p.Arg232Gly) c.832A>G (p.Arg278Gly) c.730A>G (p.Arg244Gly) c.847A>G (p.Arg283Gly) c.*737A>G (n.*737A>G) n.195A>G c.733A>G (p.Arg245Gly) c.694-901A>G (n.694-901A>G) c.631A>G (p.Arg211Gly) | |
| 7 | g.33015732T>G | CA454341532 | NT5C3A | c.694A>C (p.Arg232=) c.832A>C (p.Arg278=) c.730A>C (p.Arg244=) c.847A>C (p.Arg283=) c.*737A>C (n.*737A>C) n.195A>C c.733A>C (p.Arg245=) c.694-901A>C (n.694-901A>C) c.631A>C (p.Arg211=) | |
| 7 | g.33015733T>A | CA367190731 | NT5C3A | c.693A>T (p.Leu231Phe) c.831A>T (p.Leu277Phe) c.729A>T (p.Leu243Phe) c.846A>T (p.Leu282Phe) c.*736A>T (n.*736A>T) n.194A>T c.732A>T (p.Leu244Phe) c.694-902A>T (n.694-902A>T) c.630A>T (p.Leu210Phe) | |
| 7 | g.33015733T>C | CA454341536 | NT5C3A | c.693A>G (p.Leu231=) c.831A>G (p.Leu277=) c.729A>G (p.Leu243=) c.846A>G (p.Leu282=) c.*736A>G (n.*736A>G) n.194A>G c.732A>G (p.Leu244=) c.694-902A>G (n.694-902A>G) c.630A>G (p.Leu210=) | |
| 7 | g.33015733T>G | CA367190732 | NT5C3A | c.693A>C (p.Leu231Phe) c.831A>C (p.Leu277Phe) c.729A>C (p.Leu243Phe) c.846A>C (p.Leu282Phe) c.*736A>C (n.*736A>C) n.194A>C c.732A>C (p.Leu244Phe) c.694-902A>C (n.694-902A>C) c.630A>C (p.Leu210Phe) | |
| 7 | g.33015734A>C | CA367190734 | NT5C3A | c.692T>G (p.Leu231Ter) c.830T>G (p.Leu277Ter) c.728T>G (p.Leu243Ter) c.845T>G (p.Leu282Ter) c.*735T>G (n.*735T>G) n.193T>G c.731T>G (p.Leu244Ter) c.694-903T>G (n.694-903T>G) c.629T>G (p.Leu210Ter) | |
| 7 | g.33015734A>G | CA367190735 | NT5C3A | c.692T>C (p.Leu231Ser) c.830T>C (p.Leu277Ser) c.728T>C (p.Leu243Ser) c.845T>C (p.Leu282Ser) c.*735T>C (n.*735T>C) n.193T>C c.731T>C (p.Leu244Ser) c.694-903T>C (n.694-903T>C) c.629T>C (p.Leu210Ser) | |
| 7 | g.33015734A>T | CA367190733 | NT5C3A | c.692T>A (p.Leu231Ter) c.830T>A (p.Leu277Ter) c.728T>A (p.Leu243Ter) c.845T>A (p.Leu282Ter) c.*735T>A (n.*735T>A) n.193T>A c.731T>A (p.Leu244Ter) c.694-903T>A (n.694-903T>A) c.629T>A (p.Leu210Ter) | |
| 7 | g.33015734_33015746delinsAAGTCTCCTTGGG | CA1698574705 | NT5C3A | c.680_692delinsCCCAAGGAGACTT (p.Ser227=) c.818_830delinsCCCAAGGAGACTT (p.Ser273=) c.716_728delinsCCCAAGGAGACTT (p.Ser239=) c.833_845delinsCCCAAGGAGACTT (p.Ser278=) c.*723_*735delinsCCCAAGGAGACTT (n.*723_*735delinsCCCAAGGAGACTT) n.181_193delinsCCCAAGGAGACTT c.719_731delinsCCCAAGGAGACTT (p.Ser240=) c.694-915_694-903delinsCCCAAGGAGACTT (n.694-915_694-903delinsCCCAAGGAGACTT) c.617_629delinsCCCAAGGAGACTT (p.Ser206=) | |
| 7 | g.33015735A= | CA1698574706 | NT5C3A | c.691T= (p.Leu231=) c.829T= (p.Leu277=) c.727T= (p.Leu243=) c.844T= (p.Leu282=) c.*734T= (n.*734T=) n.192T= c.730T= (p.Leu244=) c.694-904T= (n.694-904T=) c.628T= (p.Leu210=) | |
| 7 | g.33015735A>C | CA367190736 | NT5C3A | c.691T>G (p.Leu231Val) c.829T>G (p.Leu277Val) c.727T>G (p.Leu243Val) c.844T>G (p.Leu282Val) c.*734T>G (n.*734T>G) n.192T>G c.730T>G (p.Leu244Val) c.694-904T>G (n.694-904T>G) c.628T>G (p.Leu210Val) | |
| 7 | g.33015735A>G | CA4213306 | NT5C3A | c.691T>C (p.Leu231=) c.829T>C (p.Leu277=) c.727T>C (p.Leu243=) c.844T>C (p.Leu282=) c.*734T>C (n.*734T>C) n.192T>C c.730T>C (p.Leu244=) c.694-904T>C (n.694-904T>C) c.628T>C (p.Leu210=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.33015735A>T | CA367190737 | NT5C3A | c.691T>A (p.Leu231Ile) c.829T>A (p.Leu277Ile) c.727T>A (p.Leu243Ile) c.844T>A (p.Leu282Ile) c.*734T>A (n.*734T>A) n.192T>A c.730T>A (p.Leu244Ile) c.694-904T>A (n.694-904T>A) c.628T>A (p.Leu210Ile) | |
| 7 | g.33015742_33015753del | CA573761111 | NT5C3A | c.680_691del (p.Ser227_Asp230del) c.818_829del (p.Ser273_Asp276del) c.716_727del (p.Ser239_Asp242del) c.833_844del (p.Ser278_Asp281del) c.*723_*734del (n.*723_*734del) n.181_192del c.719_730del (p.Ser240_Asp243del) c.694-915_694-904del (n.694-915_694-904del) c.617_628del (p.Ser206_Asp209del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.33015736G>A | CA4213307 | NT5C3A | c.690C>T (p.Asp230=) c.828C>T (p.Asp276=) c.726C>T (p.Asp242=) c.843C>T (p.Asp281=) c.*733C>T (n.*733C>T) n.191C>T c.729C>T (p.Asp243=) c.694-905C>T (n.694-905C>T) c.627C>T (p.Asp209=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.33015736G>C | CA367190739 | NT5C3A | c.690C>G (p.Asp230Glu) c.828C>G (p.Asp276Glu) c.726C>G (p.Asp242Glu) c.843C>G (p.Asp281Glu) c.*733C>G (n.*733C>G) n.191C>G c.729C>G (p.Asp243Glu) c.694-905C>G (n.694-905C>G) c.627C>G (p.Asp209Glu) | |
| 7 | g.33015736G= | CA1698574707 | NT5C3A | c.690C= (p.Asp230=) c.828C= (p.Asp276=) c.726C= (p.Asp242=) c.843C= (p.Asp281=) c.*733C= (n.*733C=) n.191C= c.729C= (p.Asp243=) c.694-905C= (n.694-905C=) c.627C= (p.Asp209=) | |
| 7 | g.33015736G>T | CA367190738 | NT5C3A | c.690C>A (p.Asp230Glu) c.828C>A (p.Asp276Glu) c.726C>A (p.Asp242Glu) c.843C>A (p.Asp281Glu) c.*733C>A (n.*733C>A) n.191C>A c.729C>A (p.Asp243Glu) c.694-905C>A (n.694-905C>A) c.627C>A (p.Asp209Glu) | |
| 7 | g.33015737T>A | CA367190740 | NT5C3A | c.689A>T (p.Asp230Val) c.827A>T (p.Asp276Val) c.725A>T (p.Asp242Val) c.842A>T (p.Asp281Val) c.*732A>T (n.*732A>T) n.190A>T c.728A>T (p.Asp243Val) c.694-906A>T (n.694-906A>T) c.626A>T (p.Asp209Val) | |
| 7 | g.33015737T>C | CA367190741 | NT5C3A | c.689A>G (p.Asp230Gly) c.827A>G (p.Asp276Gly) c.725A>G (p.Asp242Gly) c.842A>G (p.Asp281Gly) c.*732A>G (n.*732A>G) n.190A>G c.728A>G (p.Asp243Gly) c.694-906A>G (n.694-906A>G) c.626A>G (p.Asp209Gly) | |
| 7 | g.33015737T>G | CA367190742 | NT5C3A | c.689A>C (p.Asp230Ala) c.827A>C (p.Asp276Ala) c.725A>C (p.Asp242Ala) c.842A>C (p.Asp281Ala) c.*732A>C (n.*732A>C) n.190A>C c.728A>C (p.Asp243Ala) c.694-906A>C (n.694-906A>C) c.626A>C (p.Asp209Ala) | |
| 7 | g.33015738C>A | CA367190743 | NT5C3A | c.688G>T (p.Asp230Tyr) c.826G>T (p.Asp276Tyr) c.724G>T (p.Asp242Tyr) c.841G>T (p.Asp281Tyr) c.*731G>T (n.*731G>T) n.189G>T c.727G>T (p.Asp243Tyr) c.694-907G>T (n.694-907G>T) c.625G>T (p.Asp209Tyr) | |
| 7 | g.33015738C>G | CA367190744 | NT5C3A | c.688G>C (p.Asp230His) c.826G>C (p.Asp276His) c.724G>C (p.Asp242His) c.841G>C (p.Asp281His) c.*731G>C (n.*731G>C) n.189G>C c.727G>C (p.Asp243His) c.694-907G>C (n.694-907G>C) c.625G>C (p.Asp209His) | |
| 7 | g.33015738C>T | CA367190745 | NT5C3A | c.688G>A (p.Asp230Asn) c.826G>A (p.Asp276Asn) c.724G>A (p.Asp242Asn) c.841G>A (p.Asp281Asn) c.*731G>A (n.*731G>A) n.189G>A c.727G>A (p.Asp243Asn) c.694-907G>A (n.694-907G>A) c.625G>A (p.Asp209Asn) | |
| 7 | g.33015739T>A | CA454341569 | NT5C3A | c.687A>T (p.Gly229=) c.825A>T (p.Gly275=) c.723A>T (p.Gly241=) c.840A>T (p.Gly280=) c.*730A>T (n.*730A>T) n.188A>T c.726A>T (p.Gly242=) c.694-908A>T (n.694-908A>T) c.624A>T (p.Gly208=) | |
| 7 | g.33015739T>C | CA454341571 | NT5C3A | c.687A>G (p.Gly229=) c.825A>G (p.Gly275=) c.723A>G (p.Gly241=) c.840A>G (p.Gly280=) c.*730A>G (n.*730A>G) n.188A>G c.726A>G (p.Gly242=) c.694-908A>G (n.694-908A>G) c.624A>G (p.Gly208=) | |
| 7 | g.33015739T>G | CA454341566 | NT5C3A | c.687A>C (p.Gly229=) c.825A>C (p.Gly275=) c.723A>C (p.Gly241=) c.840A>C (p.Gly280=) c.*730A>C (n.*730A>C) n.188A>C c.726A>C (p.Gly242=) c.694-908A>C (n.694-908A>C) c.624A>C (p.Gly208=) | |
| 7 | g.33015740C>A | CA367190746 | NT5C3A | c.686G>T (p.Gly229Val) c.824G>T (p.Gly275Val) c.722G>T (p.Gly241Val) c.839G>T (p.Gly280Val) c.*729G>T (n.*729G>T) n.187G>T c.725G>T (p.Gly242Val) c.694-909G>T (n.694-909G>T) c.623G>T (p.Gly208Val) | |
| 7 | g.33015740C>G | CA367190747 | NT5C3A | c.686G>C (p.Gly229Ala) c.824G>C (p.Gly275Ala) c.722G>C (p.Gly241Ala) c.839G>C (p.Gly280Ala) c.*729G>C (n.*729G>C) n.187G>C c.725G>C (p.Gly242Ala) c.694-909G>C (n.694-909G>C) c.623G>C (p.Gly208Ala) | |
| 7 | g.33015740C>T | CA367190748 | NT5C3A | c.686G>A (p.Gly229Glu) c.824G>A (p.Gly275Glu) c.722G>A (p.Gly241Glu) c.839G>A (p.Gly280Glu) c.*729G>A (n.*729G>A) n.187G>A c.725G>A (p.Gly242Glu) c.694-909G>A (n.694-909G>A) c.623G>A (p.Gly208Glu) | |
| 7 | g.33015741C>A | CA367190749 | NT5C3A | c.685G>T (p.Gly229Ter) c.823G>T (p.Gly275Ter) c.721G>T (p.Gly241Ter) c.838G>T (p.Gly280Ter) c.*728G>T (n.*728G>T) n.186G>T c.724G>T (p.Gly242Ter) c.694-910G>T (n.694-910G>T) c.622G>T (p.Gly208Ter) | |
| 7 | g.33015741C= | CA1698574708 | NT5C3A | c.685G= (p.Gly229=) c.823G= (p.Gly275=) c.721G= (p.Gly241=) c.838G= (p.Gly280=) c.*728G= (n.*728G=) n.186G= c.724G= (p.Gly242=) c.694-910G= (n.694-910G=) c.622G= (p.Gly208=) | |
| 7 | g.33015741C>G | CA116896 | NT5C3A | c.685G>C (p.Gly229Arg) c.823G>C (p.Gly275Arg) c.721G>C (p.Gly241Arg) c.838G>C (p.Gly280Arg) c.*728G>C (n.*728G>C) n.186G>C c.724G>C (p.Gly242Arg) c.694-910G>C (n.694-910G>C) c.622G>C (p.Gly208Arg) | ClinVar dbSNP gnomAD v4 |
| 7 | g.33015741C>T | CA367190750 | NT5C3A | c.685G>A (p.Gly229Arg) c.823G>A (p.Gly275Arg) c.721G>A (p.Gly241Arg) c.838G>A (p.Gly280Arg) c.*728G>A (n.*728G>A) n.186G>A c.724G>A (p.Gly242Arg) c.694-910G>A (n.694-910G>A) c.622G>A (p.Gly208Arg) | gnomAD v4 |
| 7 | g.33015742T>A | CA367190751 | NT5C3A | c.684A>T (p.Gln228His) c.822A>T (p.Gln274His) c.720A>T (p.Gln240His) c.837A>T (p.Gln279His) c.*727A>T (n.*727A>T) n.185A>T c.723A>T (p.Gln241His) c.694-911A>T (n.694-911A>T) c.621A>T (p.Gln207His) | |
| 7 | g.33015742T>C | CA4213308 | NT5C3A | c.684A>G (p.Gln228=) c.822A>G (p.Gln274=) c.720A>G (p.Gln240=) c.837A>G (p.Gln279=) c.*727A>G (n.*727A>G) n.185A>G c.723A>G (p.Gln241=) c.694-911A>G (n.694-911A>G) c.621A>G (p.Gln207=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.33015742T>G | CA367190752 | NT5C3A | c.684A>C (p.Gln228His) c.822A>C (p.Gln274His) c.720A>C (p.Gln240His) c.837A>C (p.Gln279His) c.*727A>C (n.*727A>C) n.185A>C c.723A>C (p.Gln241His) c.694-911A>C (n.694-911A>C) c.621A>C (p.Gln207His) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.33015742T= | CA1698574709 | NT5C3A | c.684A= (p.Gln228=) c.822A= (p.Gln274=) c.720A= (p.Gln240=) c.837A= (p.Gln279=) c.*727A= (n.*727A=) n.185A= c.723A= (p.Gln241=) c.694-911A= (n.694-911A=) c.621A= (p.Gln207=) | |
| 7 | g.33015743T>A | CA367190753 | NT5C3A | c.683A>T (p.Gln228Leu) c.821A>T (p.Gln274Leu) c.719A>T (p.Gln240Leu) c.836A>T (p.Gln279Leu) c.*726A>T (n.*726A>T) n.184A>T c.722A>T (p.Gln241Leu) c.694-912A>T (n.694-912A>T) c.620A>T (p.Gln207Leu) | |
| 7 | g.33015743T>C | CA367190754 | NT5C3A | c.683A>G (p.Gln228Arg) c.821A>G (p.Gln274Arg) c.719A>G (p.Gln240Arg) c.836A>G (p.Gln279Arg) c.*726A>G (n.*726A>G) n.184A>G c.722A>G (p.Gln241Arg) c.694-912A>G (n.694-912A>G) c.620A>G (p.Gln207Arg) | |
| 7 | g.33015743T>G | CA367190755 | NT5C3A | c.683A>C (p.Gln228Pro) c.821A>C (p.Gln274Pro) c.719A>C (p.Gln240Pro) c.836A>C (p.Gln279Pro) c.*726A>C (n.*726A>C) n.184A>C c.722A>C (p.Gln241Pro) c.694-912A>C (n.694-912A>C) c.620A>C (p.Gln207Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.33015743T= | CA1698574710 | NT5C3A | c.683A= (p.Gln228=) c.821A= (p.Gln274=) c.719A= (p.Gln240=) c.836A= (p.Gln279=) c.*726A= (n.*726A=) n.184A= c.722A= (p.Gln241=) c.694-912A= (n.694-912A=) c.620A= (p.Gln207=) | |
| 7 | g.33015744G>A | CA367190756 | NT5C3A | c.682C>T (p.Gln228Ter) c.820C>T (p.Gln274Ter) c.718C>T (p.Gln240Ter) c.835C>T (p.Gln279Ter) c.*725C>T (n.*725C>T) n.183C>T c.721C>T (p.Gln241Ter) c.694-913C>T (n.694-913C>T) c.619C>T (p.Gln207Ter) | |
| 7 | g.33015744G>C | CA367190757 | NT5C3A | c.682C>G (p.Gln228Glu) c.820C>G (p.Gln274Glu) c.718C>G (p.Gln240Glu) c.835C>G (p.Gln279Glu) c.*725C>G (n.*725C>G) n.183C>G c.721C>G (p.Gln241Glu) c.694-913C>G (n.694-913C>G) c.619C>G (p.Gln207Glu) | |
| 7 | g.33015744G>T | CA367190758 | NT5C3A | c.682C>A (p.Gln228Lys) c.820C>A (p.Gln274Lys) c.718C>A (p.Gln240Lys) c.835C>A (p.Gln279Lys) c.*725C>A (n.*725C>A) n.183C>A c.721C>A (p.Gln241Lys) c.694-913C>A (n.694-913C>A) c.619C>A (p.Gln207Lys) | |
| 7 | g.33015745G>A | CA454341598 | NT5C3A | c.681C>T (p.Ser227=) c.819C>T (p.Ser273=) c.717C>T (p.Ser239=) c.834C>T (p.Ser278=) c.*724C>T (n.*724C>T) n.182C>T c.720C>T (p.Ser240=) c.694-914C>T (n.694-914C>T) c.618C>T (p.Ser206=) | |
| 7 | g.33015745G>C | CA454341599 | NT5C3A | c.681C>G (p.Ser227=) c.819C>G (p.Ser273=) c.717C>G (p.Ser239=) c.834C>G (p.Ser278=) c.*724C>G (n.*724C>G) n.182C>G c.720C>G (p.Ser240=) c.694-914C>G (n.694-914C>G) c.618C>G (p.Ser206=) | |
| 7 | g.33015745G>T | CA454341596 | NT5C3A | c.681C>A (p.Ser227=) c.819C>A (p.Ser273=) c.717C>A (p.Ser239=) c.834C>A (p.Ser278=) c.*724C>A (n.*724C>A) n.182C>A c.720C>A (p.Ser240=) c.694-914C>A (n.694-914C>A) c.618C>A (p.Ser206=) | |
| 7 | g.33015746G>A | CA367190759 | NT5C3A | c.680C>T (p.Ser227Phe) c.818C>T (p.Ser273Phe) c.716C>T (p.Ser239Phe) c.833C>T (p.Ser278Phe) c.*723C>T (n.*723C>T) n.181C>T c.719C>T (p.Ser240Phe) c.694-915C>T (n.694-915C>T) c.617C>T (p.Ser206Phe) | COSMIC COSMIC |
| 7 | g.33015746G>C | CA367190760 | NT5C3A | c.680C>G (p.Ser227Cys) c.818C>G (p.Ser273Cys) c.716C>G (p.Ser239Cys) c.833C>G (p.Ser278Cys) c.*723C>G (n.*723C>G) n.181C>G c.719C>G (p.Ser240Cys) c.694-915C>G (n.694-915C>G) c.617C>G (p.Ser206Cys) | gnomAD v4 |
| 7 | g.33015746G>T | CA367190761 | NT5C3A | c.680C>A (p.Ser227Tyr) c.818C>A (p.Ser273Tyr) c.716C>A (p.Ser239Tyr) c.833C>A (p.Ser278Tyr) c.*723C>A (n.*723C>A) n.181C>A c.719C>A (p.Ser240Tyr) c.694-915C>A (n.694-915C>A) c.617C>A (p.Ser206Tyr) | |
| 7 | g.33015747A>C | CA367190764 | NT5C3A | c.679T>G (p.Ser227Ala) c.817T>G (p.Ser273Ala) c.715T>G (p.Ser239Ala) c.832T>G (p.Ser278Ala) c.*722T>G (n.*722T>G) n.180T>G c.718T>G (p.Ser240Ala) c.694-916T>G (n.694-916T>G) c.616T>G (p.Ser206Ala) | |
| 7 | g.33015747A>G | CA367190763 | NT5C3A | c.679T>C (p.Ser227Pro) c.817T>C (p.Ser273Pro) c.715T>C (p.Ser239Pro) c.832T>C (p.Ser278Pro) c.*722T>C (n.*722T>C) n.180T>C c.718T>C (p.Ser240Pro) c.694-916T>C (n.694-916T>C) c.616T>C (p.Ser206Pro) | |
| 7 | g.33015747A>T | CA367190762 | NT5C3A | c.679T>A (p.Ser227Thr) c.817T>A (p.Ser273Thr) c.715T>A (p.Ser239Thr) c.832T>A (p.Ser278Thr) c.*722T>A (n.*722T>A) n.180T>A c.718T>A (p.Ser240Thr) c.694-916T>A (n.694-916T>A) c.616T>A (p.Ser206Thr) | |
| 7 | g.33015748G>A | CA4213309 | NT5C3A | c.678C>T (p.Asp226=) c.816C>T (p.Asp272=) c.714C>T (p.Asp238=) c.831C>T (p.Asp277=) c.*721C>T (n.*721C>T) n.179C>T c.717C>T (p.Asp239=) c.694-917C>T (n.694-917C>T) c.615C>T (p.Asp205=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.33015748G>C | CA367190765 | NT5C3A | c.678C>G (p.Asp226Glu) c.816C>G (p.Asp272Glu) c.714C>G (p.Asp238Glu) c.831C>G (p.Asp277Glu) c.*721C>G (n.*721C>G) n.179C>G c.717C>G (p.Asp239Glu) c.694-917C>G (n.694-917C>G) c.615C>G (p.Asp205Glu) | |
| 7 | g.33015748G= | CA1698574711 | NT5C3A | c.678C= (p.Asp226=) c.816C= (p.Asp272=) c.714C= (p.Asp238=) c.831C= (p.Asp277=) c.*721C= (n.*721C=) n.179C= c.717C= (p.Asp239=) c.694-917C= (n.694-917C=) c.615C= (p.Asp205=) | |
| 7 | g.33015748G>T | CA367190766 | NT5C3A | c.678C>A (p.Asp226Glu) c.816C>A (p.Asp272Glu) c.714C>A (p.Asp238Glu) c.831C>A (p.Asp277Glu) c.*721C>A (n.*721C>A) n.179C>A c.717C>A (p.Asp239Glu) c.694-917C>A (n.694-917C>A) c.615C>A (p.Asp205Glu) | COSMIC COSMIC |
| 7 | g.33015749T>A | CA367190767 | NT5C3A | c.677A>T (p.Asp226Val) c.815A>T (p.Asp272Val) c.713A>T (p.Asp238Val) c.830A>T (p.Asp277Val) c.*720A>T (n.*720A>T) n.178A>T c.716A>T (p.Asp239Val) c.694-918A>T (n.694-918A>T) c.614A>T (p.Asp205Val) | |
| 7 | g.33015749T>C | CA367190768 | NT5C3A | c.677A>G (p.Asp226Gly) c.815A>G (p.Asp272Gly) c.713A>G (p.Asp238Gly) c.830A>G (p.Asp277Gly) c.*720A>G (n.*720A>G) n.178A>G c.716A>G (p.Asp239Gly) c.694-918A>G (n.694-918A>G) c.614A>G (p.Asp205Gly) | gnomAD v4 |
| 7 | g.33015749T>G | CA367190769 | NT5C3A | c.677A>C (p.Asp226Ala) c.815A>C (p.Asp272Ala) c.713A>C (p.Asp238Ala) c.830A>C (p.Asp277Ala) c.*720A>C (n.*720A>C) n.178A>C c.716A>C (p.Asp239Ala) c.694-918A>C (n.694-918A>C) c.614A>C (p.Asp205Ala) |