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 |
|---|---|---|---|---|---|
| 12 | g.868369_868370del | CA1139662441 | WNK1 | c.2140-2896_2140-2895del (n.2140-2896_2140-2895del) c.2898_2899del (p.Gln966HisfsTer3) c.919-2896_919-2895del (n.919-2896_919-2895del) c.408+6099_408+6100del (n.408+6099_408+6100del) c.2643_2644del (p.Gln881HisfsTer3) c.36+6099_36+6100del (n.36+6099_36+6100del) c.190+6099_190+6100del c.98-2896_98-2895del c.540_541del (p.Gln180HisfsTer3) c.1422_1423del (p.Gln474HisfsTer3) c.2139+6099_2139+6100del (n.2139+6099_2139+6100del) | ClinVar dbSNP gnomAD v4 |
| 12 | g.868370A>C | CA383339853 | WNK1 | c.2140-2895A>C (n.2140-2895A>C) c.2899A>C (p.Ile967Leu) c.919-2895A>C (n.919-2895A>C) c.408+6100A>C (n.408+6100A>C) c.2644A>C (p.Ile882Leu) c.36+6100A>C (n.36+6100A>C) c.190+6100A>C c.98-2895A>C c.541A>C (p.Ile181Leu) c.1423A>C (p.Ile475Leu) c.2139+6100A>C (n.2139+6100A>C) | |
| 12 | g.868370A>G | CA383339854 | WNK1 | c.2140-2895A>G (n.2140-2895A>G) c.2899A>G (p.Ile967Val) c.919-2895A>G (n.919-2895A>G) c.408+6100A>G (n.408+6100A>G) c.2644A>G (p.Ile882Val) c.36+6100A>G (n.36+6100A>G) c.190+6100A>G c.98-2895A>G c.541A>G (p.Ile181Val) c.1423A>G (p.Ile475Val) c.2139+6100A>G (n.2139+6100A>G) | |
| 12 | g.868370A>T | CA383339855 | WNK1 | c.2140-2895A>T (n.2140-2895A>T) c.2899A>T (p.Ile967Leu) c.919-2895A>T (n.919-2895A>T) c.408+6100A>T (n.408+6100A>T) c.2644A>T (p.Ile882Leu) c.36+6100A>T (n.36+6100A>T) c.190+6100A>T c.98-2895A>T c.541A>T (p.Ile181Leu) c.1423A>T (p.Ile475Leu) c.2139+6100A>T (n.2139+6100A>T) | |
| 12 | g.868371T>A | CA383339856 | WNK1 | c.2140-2894T>A (n.2140-2894T>A) c.2900T>A (p.Ile967Lys) c.919-2894T>A (n.919-2894T>A) c.408+6101T>A (n.408+6101T>A) c.2645T>A (p.Ile882Lys) c.36+6101T>A (n.36+6101T>A) c.190+6101T>A c.98-2894T>A c.542T>A (p.Ile181Lys) c.1424T>A (p.Ile475Lys) c.2139+6101T>A (n.2139+6101T>A) | |
| 12 | g.868371T>C | CA383339858 | WNK1 | c.2140-2894T>C (n.2140-2894T>C) c.2900T>C (p.Ile967Thr) c.919-2894T>C (n.919-2894T>C) c.408+6101T>C (n.408+6101T>C) c.2645T>C (p.Ile882Thr) c.36+6101T>C (n.36+6101T>C) c.190+6101T>C c.98-2894T>C c.542T>C (p.Ile181Thr) c.1424T>C (p.Ile475Thr) c.2139+6101T>C (n.2139+6101T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.868371T>G | CA383339857 | WNK1 | c.2140-2894T>G (n.2140-2894T>G) c.2900T>G (p.Ile967Arg) c.919-2894T>G (n.919-2894T>G) c.408+6101T>G (n.408+6101T>G) c.2645T>G (p.Ile882Arg) c.36+6101T>G (n.36+6101T>G) c.190+6101T>G c.98-2894T>G c.542T>G (p.Ile181Arg) c.1424T>G (p.Ile475Arg) c.2139+6101T>G (n.2139+6101T>G) | |
| 12 | g.868371T= | CA2011712665 | WNK1 | c.2140-2894T= (n.2140-2894T=) c.2900T= (p.Ile967=) c.919-2894T= (n.919-2894T=) c.408+6101T= (n.408+6101T=) c.2645T= (p.Ile882=) c.36+6101T= (n.36+6101T=) c.190+6101T= c.98-2894T= c.542T= (p.Ile181=) c.1424T= (p.Ile475=) c.2139+6101T= (n.2139+6101T=) | |
| 12 | g.868372A= | CA2011712666 | WNK1 | c.2140-2893A= (n.2140-2893A=) c.2901A= (p.Ile967=) c.919-2893A= (n.919-2893A=) c.408+6102A= (n.408+6102A=) c.2646A= (p.Ile882=) c.36+6102A= (n.36+6102A=) c.190+6102A= c.98-2893A= c.543A= (p.Ile181=) c.1425A= (p.Ile475=) c.2139+6102A= (n.2139+6102A=) | |
| 12 | g.868372A>C | CA2011712667 | WNK1 | c.2140-2893A>C (n.2140-2893A>C) c.2901A>C (p.Ile967=) c.919-2893A>C (n.919-2893A>C) c.408+6102A>C (n.408+6102A>C) c.2646A>C (p.Ile882=) c.36+6102A>C (n.36+6102A>C) c.190+6102A>C c.98-2893A>C c.543A>C (p.Ile181=) c.1425A>C (p.Ile475=) c.2139+6102A>C (n.2139+6102A>C) | dbSNP |
| 12 | g.868372A>G | CA383339859 | WNK1 | c.2140-2893A>G (n.2140-2893A>G) c.2901A>G (p.Ile967Met) c.919-2893A>G (n.919-2893A>G) c.408+6102A>G (n.408+6102A>G) c.2646A>G (p.Ile882Met) c.36+6102A>G (n.36+6102A>G) c.190+6102A>G c.98-2893A>G c.543A>G (p.Ile181Met) c.1425A>G (p.Ile475Met) c.2139+6102A>G (n.2139+6102A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.868373C>A | CA383339860 | WNK1 | c.2140-2892C>A (n.2140-2892C>A) c.2902C>A (p.Pro968Thr) c.919-2892C>A (n.919-2892C>A) c.408+6103C>A (n.408+6103C>A) c.2647C>A (p.Pro883Thr) c.36+6103C>A (n.36+6103C>A) c.190+6103C>A c.98-2892C>A c.544C>A (p.Pro182Thr) c.1426C>A (p.Pro476Thr) c.2139+6103C>A (n.2139+6103C>A) | gnomAD v4 |
| 12 | g.868373C= | CA2011712668 | WNK1 | c.2140-2892C= (n.2140-2892C=) c.2902C= (p.Pro968=) c.919-2892C= (n.919-2892C=) c.408+6103C= (n.408+6103C=) c.2647C= (p.Pro883=) c.36+6103C= (n.36+6103C=) c.190+6103C= c.98-2892C= c.544C= (p.Pro182=) c.1426C= (p.Pro476=) c.2139+6103C= (n.2139+6103C=) | |
| 12 | g.868373C>G | CA383339861 | WNK1 | c.2140-2892C>G (n.2140-2892C>G) c.2902C>G (p.Pro968Ala) c.919-2892C>G (n.919-2892C>G) c.408+6103C>G (n.408+6103C>G) c.2647C>G (p.Pro883Ala) c.36+6103C>G (n.36+6103C>G) c.190+6103C>G c.98-2892C>G c.544C>G (p.Pro182Ala) c.1426C>G (p.Pro476Ala) c.2139+6103C>G (n.2139+6103C>G) | dbSNP |
| 12 | g.868373C>T | CA383339862 | WNK1 | c.2140-2892C>T (n.2140-2892C>T) c.2902C>T (p.Pro968Ser) c.919-2892C>T (n.919-2892C>T) c.408+6103C>T (n.408+6103C>T) c.2647C>T (p.Pro883Ser) c.36+6103C>T (n.36+6103C>T) c.190+6103C>T c.98-2892C>T c.544C>T (p.Pro182Ser) c.1426C>T (p.Pro476Ser) c.2139+6103C>T (n.2139+6103C>T) | gnomAD v4 |
| 12 | g.868374C>A | CA383339863 | WNK1 | c.2140-2891C>A (n.2140-2891C>A) c.2903C>A (p.Pro968His) c.919-2891C>A (n.919-2891C>A) c.408+6104C>A (n.408+6104C>A) c.2648C>A (p.Pro883His) c.36+6104C>A (n.36+6104C>A) c.190+6104C>A c.98-2891C>A c.545C>A (p.Pro182His) c.1427C>A (p.Pro476His) c.2139+6104C>A (n.2139+6104C>A) | |
| 12 | g.868374C>G | CA383339864 | WNK1 | c.2140-2891C>G (n.2140-2891C>G) c.2903C>G (p.Pro968Arg) c.919-2891C>G (n.919-2891C>G) c.408+6104C>G (n.408+6104C>G) c.2648C>G (p.Pro883Arg) c.36+6104C>G (n.36+6104C>G) c.190+6104C>G c.98-2891C>G c.545C>G (p.Pro182Arg) c.1427C>G (p.Pro476Arg) c.2139+6104C>G (n.2139+6104C>G) | gnomAD v4 |
| 12 | g.868374C>T | CA383339865 | WNK1 | c.2140-2891C>T (n.2140-2891C>T) c.2903C>T (p.Pro968Leu) c.919-2891C>T (n.919-2891C>T) c.408+6104C>T (n.408+6104C>T) c.2648C>T (p.Pro883Leu) c.36+6104C>T (n.36+6104C>T) c.190+6104C>T c.98-2891C>T c.545C>T (p.Pro182Leu) c.1427C>T (p.Pro476Leu) c.2139+6104C>T (n.2139+6104C>T) | |
| 12 | g.868376G>A | CA383339866 | WNK1 | c.2140-2889G>A (n.2140-2889G>A) c.2905G>A (p.Glu969Lys) c.919-2889G>A (n.919-2889G>A) c.408+6106G>A (n.408+6106G>A) c.2650G>A (p.Glu884Lys) c.36+6106G>A (n.36+6106G>A) c.190+6106G>A c.98-2889G>A c.547G>A (p.Glu183Lys) c.1429G>A (p.Glu477Lys) c.2139+6106G>A (n.2139+6106G>A) | |
| 12 | g.868376G>C | CA383339867 | WNK1 | c.2140-2889G>C (n.2140-2889G>C) c.2905G>C (p.Glu969Gln) c.919-2889G>C (n.919-2889G>C) c.408+6106G>C (n.408+6106G>C) c.2650G>C (p.Glu884Gln) c.36+6106G>C (n.36+6106G>C) c.190+6106G>C c.98-2889G>C c.547G>C (p.Glu183Gln) c.1429G>C (p.Glu477Gln) c.2139+6106G>C (n.2139+6106G>C) | |
| 12 | g.868376G>T | CA383339868 | WNK1 | c.2140-2889G>T (n.2140-2889G>T) c.2905G>T (p.Glu969Ter) c.919-2889G>T (n.919-2889G>T) c.408+6106G>T (n.408+6106G>T) c.2650G>T (p.Glu884Ter) c.36+6106G>T (n.36+6106G>T) c.190+6106G>T c.98-2889G>T c.547G>T (p.Glu183Ter) c.1429G>T (p.Glu477Ter) c.2139+6106G>T (n.2139+6106G>T) | gnomAD v4 |
| 12 | g.868377A>C | CA383339871 | WNK1 | c.2140-2888A>C (n.2140-2888A>C) c.2906A>C (p.Glu969Ala) c.919-2888A>C (n.919-2888A>C) c.408+6107A>C (n.408+6107A>C) c.2651A>C (p.Glu884Ala) c.36+6107A>C (n.36+6107A>C) c.190+6107A>C c.98-2888A>C c.548A>C (p.Glu183Ala) c.1430A>C (p.Glu477Ala) c.2139+6107A>C (n.2139+6107A>C) | |
| 12 | g.868377A>G | CA383339870 | WNK1 | c.2140-2888A>G (n.2140-2888A>G) c.2906A>G (p.Glu969Gly) c.919-2888A>G (n.919-2888A>G) c.408+6107A>G (n.408+6107A>G) c.2651A>G (p.Glu884Gly) c.36+6107A>G (n.36+6107A>G) c.190+6107A>G c.98-2888A>G c.548A>G (p.Glu183Gly) c.1430A>G (p.Glu477Gly) c.2139+6107A>G (n.2139+6107A>G) | gnomAD v4 |
| 12 | g.868377A>T | CA383339869 | WNK1 | c.2140-2888A>T (n.2140-2888A>T) c.2906A>T (p.Glu969Val) c.919-2888A>T (n.919-2888A>T) c.408+6107A>T (n.408+6107A>T) c.2651A>T (p.Glu884Val) c.36+6107A>T (n.36+6107A>T) c.190+6107A>T c.98-2888A>T c.548A>T (p.Glu183Val) c.1430A>T (p.Glu477Val) c.2139+6107A>T (n.2139+6107A>T) | |
| 12 | g.868378A= | CA2011712669 | WNK1 | c.2140-2887A= (n.2140-2887A=) c.2907A= (p.Glu969=) c.919-2887A= (n.919-2887A=) c.408+6108A= (n.408+6108A=) c.2652A= (p.Glu884=) c.36+6108A= (n.36+6108A=) c.190+6108A= c.98-2887A= c.549A= (p.Glu183=) c.1431A= (p.Glu477=) c.2139+6108A= (n.2139+6108A=) | |
| 12 | g.868378A>C | CA383339872 | WNK1 | c.2140-2887A>C (n.2140-2887A>C) c.2907A>C (p.Glu969Asp) c.919-2887A>C (n.919-2887A>C) c.408+6108A>C (n.408+6108A>C) c.2652A>C (p.Glu884Asp) c.36+6108A>C (n.36+6108A>C) c.190+6108A>C c.98-2887A>C c.549A>C (p.Glu183Asp) c.1431A>C (p.Glu477Asp) c.2139+6108A>C (n.2139+6108A>C) | |
| 12 | g.868378A>G | CA2617006974 | WNK1 | c.2140-2887A>G (n.2140-2887A>G) c.2907A>G (p.Glu969=) c.919-2887A>G (n.919-2887A>G) c.408+6108A>G (n.408+6108A>G) c.2652A>G (p.Glu884=) c.36+6108A>G (n.36+6108A>G) c.190+6108A>G c.98-2887A>G c.549A>G (p.Glu183=) c.1431A>G (p.Glu477=) c.2139+6108A>G (n.2139+6108A>G) | gnomAD v4 |
| 12 | g.868378A>T | CA6382261 | WNK1 | c.2140-2887A>T (n.2140-2887A>T) c.2907A>T (p.Glu969Asp) c.919-2887A>T (n.919-2887A>T) c.408+6108A>T (n.408+6108A>T) c.2652A>T (p.Glu884Asp) c.36+6108A>T (n.36+6108A>T) c.190+6108A>T c.98-2887A>T c.549A>T (p.Glu183Asp) c.1431A>T (p.Glu477Asp) c.2139+6108A>T (n.2139+6108A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.868379C>A | CA383339873 | WNK1 | c.2140-2886C>A (n.2140-2886C>A) c.2908C>A (p.Gln970Lys) c.919-2886C>A (n.919-2886C>A) c.408+6109C>A (n.408+6109C>A) c.2653C>A (p.Gln885Lys) c.36+6109C>A (n.36+6109C>A) c.190+6109C>A c.98-2886C>A c.550C>A (p.Gln184Lys) c.1432C>A (p.Gln478Lys) c.2139+6109C>A (n.2139+6109C>A) | |
| 12 | g.868379C= | CA2011712670 | WNK1 | c.2140-2886C= (n.2140-2886C=) c.2908C= (p.Gln970=) c.919-2886C= (n.919-2886C=) c.408+6109C= (n.408+6109C=) c.2653C= (p.Gln885=) c.36+6109C= (n.36+6109C=) c.190+6109C= c.98-2886C= c.550C= (p.Gln184=) c.1432C= (p.Gln478=) c.2139+6109C= (n.2139+6109C=) | |
| 12 | g.868379C>G | CA383339874 | WNK1 | c.2140-2886C>G (n.2140-2886C>G) c.2908C>G (p.Gln970Glu) c.919-2886C>G (n.919-2886C>G) c.408+6109C>G (n.408+6109C>G) c.2653C>G (p.Gln885Glu) c.36+6109C>G (n.36+6109C>G) c.190+6109C>G c.98-2886C>G c.550C>G (p.Gln184Glu) c.1432C>G (p.Gln478Glu) c.2139+6109C>G (n.2139+6109C>G) | dbSNP |
| 12 | g.868379C>T | CA6382262 | WNK1 | c.2140-2886C>T (n.2140-2886C>T) c.2908C>T (p.Gln970Ter) c.919-2886C>T (n.919-2886C>T) c.408+6109C>T (n.408+6109C>T) c.2653C>T (p.Gln885Ter) c.36+6109C>T (n.36+6109C>T) c.190+6109C>T c.98-2886C>T c.550C>T (p.Gln184Ter) c.1432C>T (p.Gln478Ter) c.2139+6109C>T (n.2139+6109C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.868380A>C | CA383339875 | WNK1 | c.2140-2885A>C (n.2140-2885A>C) c.2909A>C (p.Gln970Pro) c.919-2885A>C (n.919-2885A>C) c.408+6110A>C (n.408+6110A>C) c.2654A>C (p.Gln885Pro) c.36+6110A>C (n.36+6110A>C) c.190+6110A>C c.98-2885A>C c.551A>C (p.Gln184Pro) c.1433A>C (p.Gln478Pro) c.2139+6110A>C (n.2139+6110A>C) | |
| 12 | g.868380A>G | CA383339876 | WNK1 | c.2140-2885A>G (n.2140-2885A>G) c.2909A>G (p.Gln970Arg) c.919-2885A>G (n.919-2885A>G) c.408+6110A>G (n.408+6110A>G) c.2654A>G (p.Gln885Arg) c.36+6110A>G (n.36+6110A>G) c.190+6110A>G c.98-2885A>G c.551A>G (p.Gln184Arg) c.1433A>G (p.Gln478Arg) c.2139+6110A>G (n.2139+6110A>G) | gnomAD v4 |
| 12 | g.868380A>T | CA383339877 | WNK1 | c.2140-2885A>T (n.2140-2885A>T) c.2909A>T (p.Gln970Leu) c.919-2885A>T (n.919-2885A>T) c.408+6110A>T (n.408+6110A>T) c.2654A>T (p.Gln885Leu) c.36+6110A>T (n.36+6110A>T) c.190+6110A>T c.98-2885A>T c.551A>T (p.Gln184Leu) c.1433A>T (p.Gln478Leu) c.2139+6110A>T (n.2139+6110A>T) | |
| 12 | g.868381G>C | CA383339878 | WNK1 | c.2140-2884G>C (n.2140-2884G>C) c.2910G>C (p.Gln970His) c.919-2884G>C (n.919-2884G>C) c.408+6111G>C (n.408+6111G>C) c.2655G>C (p.Gln885His) c.36+6111G>C (n.36+6111G>C) c.190+6111G>C c.98-2884G>C c.552G>C (p.Gln184His) c.1434G>C (p.Gln478His) c.2139+6111G>C (n.2139+6111G>C) | |
| 12 | g.868381G>T | CA383339879 | WNK1 | c.2140-2884G>T (n.2140-2884G>T) c.2910G>T (p.Gln970His) c.919-2884G>T (n.919-2884G>T) c.408+6111G>T (n.408+6111G>T) c.2655G>T (p.Gln885His) c.36+6111G>T (n.36+6111G>T) c.190+6111G>T c.98-2884G>T c.552G>T (p.Gln184His) c.1434G>T (p.Gln478His) c.2139+6111G>T (n.2139+6111G>T) | |
| 12 | g.868382A>C | CA383339880 | WNK1 | c.2140-2883A>C (n.2140-2883A>C) c.2911A>C (p.Lys971Gln) c.919-2883A>C (n.919-2883A>C) c.408+6112A>C (n.408+6112A>C) c.2656A>C (p.Lys886Gln) c.36+6112A>C (n.36+6112A>C) c.190+6112A>C c.98-2883A>C c.553A>C (p.Lys185Gln) c.1435A>C (p.Lys479Gln) c.2139+6112A>C (n.2139+6112A>C) | |
| 12 | g.868382A>G | CA383339881 | WNK1 | c.2140-2883A>G (n.2140-2883A>G) c.2911A>G (p.Lys971Glu) c.919-2883A>G (n.919-2883A>G) c.408+6112A>G (n.408+6112A>G) c.2656A>G (p.Lys886Glu) c.36+6112A>G (n.36+6112A>G) c.190+6112A>G c.98-2883A>G c.553A>G (p.Lys185Glu) c.1435A>G (p.Lys479Glu) c.2139+6112A>G (n.2139+6112A>G) | |
| 12 | g.868382A>T | CA383339882 | WNK1 | c.2140-2883A>T (n.2140-2883A>T) c.2911A>T (p.Lys971Ter) c.919-2883A>T (n.919-2883A>T) c.408+6112A>T (n.408+6112A>T) c.2656A>T (p.Lys886Ter) c.36+6112A>T (n.36+6112A>T) c.190+6112A>T c.98-2883A>T c.553A>T (p.Lys185Ter) c.1435A>T (p.Lys479Ter) c.2139+6112A>T (n.2139+6112A>T) | |
| 12 | g.868383A>C | CA383339885 | WNK1 | c.2140-2882A>C (n.2140-2882A>C) c.2912A>C (p.Lys971Thr) c.919-2882A>C (n.919-2882A>C) c.408+6113A>C (n.408+6113A>C) c.2657A>C (p.Lys886Thr) c.36+6113A>C (n.36+6113A>C) c.190+6113A>C c.98-2882A>C c.554A>C (p.Lys185Thr) c.1436A>C (p.Lys479Thr) c.2139+6113A>C (n.2139+6113A>C) | |
| 12 | g.868383A>G | CA383339883 | WNK1 | c.2140-2882A>G (n.2140-2882A>G) c.2912A>G (p.Lys971Arg) c.919-2882A>G (n.919-2882A>G) c.408+6113A>G (n.408+6113A>G) c.2657A>G (p.Lys886Arg) c.36+6113A>G (n.36+6113A>G) c.190+6113A>G c.98-2882A>G c.554A>G (p.Lys185Arg) c.1436A>G (p.Lys479Arg) c.2139+6113A>G (n.2139+6113A>G) | gnomAD v4 |
| 12 | g.868383A>T | CA383339884 | WNK1 | c.2140-2882A>T (n.2140-2882A>T) c.2912A>T (p.Lys971Met) c.919-2882A>T (n.919-2882A>T) c.408+6113A>T (n.408+6113A>T) c.2657A>T (p.Lys886Met) c.36+6113A>T (n.36+6113A>T) c.190+6113A>T c.98-2882A>T c.554A>T (p.Lys185Met) c.1436A>T (p.Lys479Met) c.2139+6113A>T (n.2139+6113A>T) | |
| 12 | g.868384G>A | CA2794264741 | WNK1 | c.2140-2881G>A (n.2140-2881G>A) c.2913G>A (p.Lys971=) c.919-2881G>A (n.919-2881G>A) c.408+6114G>A (n.408+6114G>A) c.2658G>A (p.Lys886=) c.36+6114G>A (n.36+6114G>A) c.190+6114G>A c.98-2881G>A c.555G>A (p.Lys185=) c.1437G>A (p.Lys479=) c.2139+6114G>A (n.2139+6114G>A) | |
| 12 | g.868384G>C | CA383339886 | WNK1 | c.2140-2881G>C (n.2140-2881G>C) c.2913G>C (p.Lys971Asn) c.919-2881G>C (n.919-2881G>C) c.408+6114G>C (n.408+6114G>C) c.2658G>C (p.Lys886Asn) c.36+6114G>C (n.36+6114G>C) c.190+6114G>C c.98-2881G>C c.555G>C (p.Lys185Asn) c.1437G>C (p.Lys479Asn) c.2139+6114G>C (n.2139+6114G>C) | |
| 12 | g.868384G>T | CA383339887 | WNK1 | c.2140-2881G>T (n.2140-2881G>T) c.2913G>T (p.Lys971Asn) c.919-2881G>T (n.919-2881G>T) c.408+6114G>T (n.408+6114G>T) c.2658G>T (p.Lys886Asn) c.36+6114G>T (n.36+6114G>T) c.190+6114G>T c.98-2881G>T c.555G>T (p.Lys185Asn) c.1437G>T (p.Lys479Asn) c.2139+6114G>T (n.2139+6114G>T) | |
| 12 | g.868385C>A | CA383339888 | WNK1 | c.2140-2880C>A (n.2140-2880C>A) c.2914C>A (p.Pro972Thr) c.919-2880C>A (n.919-2880C>A) c.408+6115C>A (n.408+6115C>A) c.2659C>A (p.Pro887Thr) c.36+6115C>A (n.36+6115C>A) c.190+6115C>A c.98-2880C>A c.556C>A (p.Pro186Thr) c.1438C>A (p.Pro480Thr) c.2139+6115C>A (n.2139+6115C>A) | |
| 12 | g.868385C>G | CA383339889 | WNK1 | c.2140-2880C>G (n.2140-2880C>G) c.2914C>G (p.Pro972Ala) c.919-2880C>G (n.919-2880C>G) c.408+6115C>G (n.408+6115C>G) c.2659C>G (p.Pro887Ala) c.36+6115C>G (n.36+6115C>G) c.190+6115C>G c.98-2880C>G c.556C>G (p.Pro186Ala) c.1438C>G (p.Pro480Ala) c.2139+6115C>G (n.2139+6115C>G) | |
| 12 | g.868385C>T | CA383339890 | WNK1 | c.2140-2880C>T (n.2140-2880C>T) c.2914C>T (p.Pro972Ser) c.919-2880C>T (n.919-2880C>T) c.408+6115C>T (n.408+6115C>T) c.2659C>T (p.Pro887Ser) c.36+6115C>T (n.36+6115C>T) c.190+6115C>T c.98-2880C>T c.556C>T (p.Pro186Ser) c.1438C>T (p.Pro480Ser) c.2139+6115C>T (n.2139+6115C>T) | |
| 12 | g.868386C>A | CA383339891 | WNK1 | c.2140-2879C>A (n.2140-2879C>A) c.2915C>A (p.Pro972Gln) c.919-2879C>A (n.919-2879C>A) c.408+6116C>A (n.408+6116C>A) c.2660C>A (p.Pro887Gln) c.36+6116C>A (n.36+6116C>A) c.190+6116C>A c.98-2879C>A c.557C>A (p.Pro186Gln) c.1439C>A (p.Pro480Gln) c.2139+6116C>A (n.2139+6116C>A) |