| 1 | g.215867046_215867050del | CA645523113 | USH2A | c.8803_8807del (p.Val2935Ter)
| COSMIC COSMIC |
| 1 | g.215867049C>A | CA344851146 | USH2A | c.8803G>T (p.Val2935Phe)
| |
| 1 | g.215867049C= | CA1220455669 | USH2A | c.8803G= (p.Val2935=)
| |
| 1 | g.215867049C>G | CA344851148 | USH2A | c.8803G>C (p.Val2935Leu)
| |
| 1 | g.215867049C>T | CA37459364 | USH2A | c.8803G>A (p.Val2935Ile)
| dbSNP |
| 1 | g.215867050A>C | CA344851150 | USH2A | c.8802T>G (p.Ser2934Arg)
| |
| 1 | g.215867050A>G | CA423313794 | USH2A | c.8802T>C (p.Ser2934=)
| gnomAD v4 |
| 1 | g.215867050A>T | CA344851152 | USH2A | c.8802T>A (p.Ser2934Arg)
| |
| 1 | g.215867051C>A | CA344851154 | USH2A | c.8801G>T (p.Ser2934Ile)
| |
| 1 | g.215867051C= | CA1220455670 | USH2A | c.8801G= (p.Ser2934=)
| |
| 1 | g.215867051C>G | CA344851155 | USH2A | c.8801G>C (p.Ser2934Thr)
| ClinVar dbSNP |
| 1 | g.215867051C>T | CA344851157 | USH2A | c.8801G>A (p.Ser2934Asn)
| |
| 1 | g.215867052T>A | CA344851160 | USH2A | c.8800A>T (p.Ser2934Cys)
| |
| 1 | g.215867052T>C | CA344851159 | USH2A | c.8800A>G (p.Ser2934Gly)
| |
| 1 | g.215867052T>G | CA344851158 | USH2A | c.8800A>C (p.Ser2934Arg)
| |
| 1 | g.215867053C>A | CA423313796 | USH2A | c.8799G>T (p.Ala2933=)
| |
| 1 | g.215867053C= | CA1220455671 | USH2A | c.8799G= (p.Ala2933=)
| |
| 1 | g.215867053C>G | CA37459366 | USH2A | c.8799G>C (p.Ala2933=)
| ClinVar dbSNP |
| 1 | g.215867053C>T | CA1394502 | USH2A | c.8799G>A (p.Ala2933=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867054G>A | CA1394503 | USH2A | c.8798C>T (p.Ala2933Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215867054G>C | CA344851167 | USH2A | c.8798C>G (p.Ala2933Gly)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215867054G= | CA1220455672 | USH2A | c.8798C= (p.Ala2933=)
| |
| 1 | g.215867054G>T | CA1394504 | USH2A | c.8798C>A (p.Ala2933Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215867055C>A | CA344851171 | USH2A | c.8797G>T (p.Ala2933Ser)
| |
| 1 | g.215867055C>G | CA344851173 | USH2A | c.8797G>C (p.Ala2933Pro)
| |
| 1 | g.215867055C>T | CA344851176 | USH2A | c.8797G>A (p.Ala2933Thr)
| |
| 1 | g.215867056A>C | CA423313800 | USH2A | c.8796T>G (p.Thr2932=)
| |
| 1 | g.215867056A>G | CA423313801 | USH2A | c.8796T>C (p.Thr2932=)
| ClinVar dbSNP |
| 1 | g.215867056A>T | CA423313802 | USH2A | c.8796T>A (p.Thr2932=)
| |
| 1 | g.215867057G>A | CA344851180 | USH2A | c.8795C>T (p.Thr2932Ile)
| |
| 1 | g.215867057G>C | CA344851182 | USH2A | c.8795C>G (p.Thr2932Ser)
| |
| 1 | g.215867057G>T | CA344851184 | USH2A | c.8795C>A (p.Thr2932Asn)
| |
| 1 | g.215867058T>A | CA344851187 | USH2A | c.8794A>T (p.Thr2932Ser)
| |
| 1 | g.215867058T>C | CA344851189 | USH2A | c.8794A>G (p.Thr2932Ala)
| |
| 1 | g.215867058T>G | CA344851191 | USH2A | c.8794A>C (p.Thr2932Pro)
| gnomAD v4 |
| 1 | g.215867059G>A | CA423313808 | USH2A | c.8793C>T (p.Leu2931=)
| |
| 1 | g.215867059G>C | CA423313807 | USH2A | c.8793C>G (p.Leu2931=)
| |
| 1 | g.215867059G>T | CA423313806 | USH2A | c.8793C>A (p.Leu2931=)
| |
| 1 | g.215867060A>C | CA344851195 | USH2A | c.8792T>G (p.Leu2931Arg)
| |
| 1 | g.215867060A>G | CA344851198 | USH2A | c.8792T>C (p.Leu2931Pro)
| |
| 1 | g.215867060A>T | CA344851194 | USH2A | c.8792T>A (p.Leu2931His)
| |
| 1 | g.215867061G>A | CA344851200 | USH2A | c.8791C>T (p.Leu2931Phe)
| |
| 1 | g.215867061G>C | CA344851204 | USH2A | c.8791C>G (p.Leu2931Val)
| |
| 1 | g.215867061G>T | CA344851206 | USH2A | c.8791C>A (p.Leu2931Ile)
| |
| 1 | g.215867062A= | CA1220455673 | USH2A | c.8790T= (p.Asn2930=)
| |
| 1 | g.215867062A>C | CA1394505 | USH2A | c.8790T>G (p.Asn2930Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867062A>G | CA423313815 | USH2A | c.8790T>C (p.Asn2930=)
| |
| 1 | g.215867062A>T | CA344851210 | USH2A | c.8790T>A (p.Asn2930Lys)
| |
| 1 | g.215867063T>A | CA1394507 | USH2A | c.8789A>T (p.Asn2930Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215867063T>C | CA1394506 | USH2A | c.8789A>G (p.Asn2930Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867063T>G | CA344851215 | USH2A | c.8789A>C (p.Asn2930Thr)
| |
| 1 | g.215867063T= | CA1220455674 | USH2A | c.8789A= (p.Asn2930=)
| |
| 1 | g.215867064T>A | CA344851219 | USH2A | c.8788A>T (p.Asn2930Tyr)
| |
| 1 | g.215867064T>C | CA344851221 | USH2A | c.8788A>G (p.Asn2930Asp)
| |
| 1 | g.215867064T>G | CA344851223 | USH2A | c.8788A>C (p.Asn2930His)
| |
| 1 | g.215867065G>A | CA423313820 | USH2A | c.8787C>T (p.Ala2929=)
| |
| 1 | g.215867065G>C | CA1394508 | USH2A | c.8787C>G (p.Ala2929=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867065G= | CA1143779703 | USH2A | c.8787C= (p.Ala2929=)
| |
| 1 | g.215867065G>T | CA423313821 | USH2A | c.8787C>A (p.Ala2929=)
| |
| 1 | g.215867066G>A | CA37459397 | USH2A | c.8786C>T (p.Ala2929Val)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867066G>C | CA1394509 | USH2A | c.8786C>G (p.Ala2929Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215867066G= | CA1143484352 | USH2A | c.8786C= (p.Ala2929=)
| |
| 1 | g.215867066G>T | CA344851231 | USH2A | c.8786C>A (p.Ala2929Asp)
| gnomAD v4 |
| 1 | g.215867067C>A | CA344851233 | USH2A | c.8785G>T (p.Ala2929Ser)
| COSMIC COSMIC |
| 1 | g.215867067C= | CA1220455675 | USH2A | c.8785G= (p.Ala2929=)
| |
| 1 | g.215867067C>G | CA344851235 | USH2A | c.8785G>C (p.Ala2929Pro)
| |
| 1 | g.215867067C>T | CA344851236 | USH2A | c.8785G>A (p.Ala2929Thr)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215867068T>A | CA423313822 | USH2A | c.8784A>T (p.Gly2928=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215867068T>C | CA37459400 | USH2A | c.8784A>G (p.Gly2928=)
| dbSNP gnomAD v4 |
| 1 | g.215867068T>G | CA423313823 | USH2A | c.8784A>C (p.Gly2928=)
| |
| 1 | g.215867068T= | CA1141325005 | USH2A | c.8784A= (p.Gly2928=)
| |
| 1 | g.215867069C>A | CA344851242 | USH2A | c.8783G>T (p.Gly2928Val)
| ClinVar dbSNP gnomAD v2 |
| 1 | g.215867069C= | CA1148397882 | USH2A | c.8783G= (p.Gly2928=)
| |
| 1 | g.215867069C>G | CA344851245 | USH2A | c.8783G>C (p.Gly2928Ala)
| |
| 1 | g.215867069C>T | CA1394510 | USH2A | c.8783G>A (p.Gly2928Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215867070C>A | CA344851250 | USH2A | c.8782G>T (p.Gly2928Ter)
| ClinVar dbSNP |
| 1 | g.215867070C= | CA1220455676 | USH2A | c.8782G= (p.Gly2928=)
| |
| 1 | g.215867070C>G | CA344851251 | USH2A | c.8782G>C (p.Gly2928Arg)
| |
| 1 | g.215867070C>T | CA344851253 | USH2A | c.8782G>A (p.Gly2928Arg)
| dbSNP gnomAD v4 |
| 1 | g.215867076_215867077del | CA2586968204 | USH2A | c.8781_8782del (p.Gly2928SerfsTer9)
| |
| 1 | g.215867074_215867077del | CA2650504859 | USH2A | c.8779_8782del (p.Arg2927GlufsTer16)
| gnomAD v4 |
| 1 | g.215867070_215867071insCT | CA645523114 | USH2A | c.8781_8782insAG (p.Gly2928ArgfsTer17)
| COSMIC COSMIC |
| 1 | g.215867071T>A | CA344851257 | USH2A | c.8781A>T (p.Arg2927Ser)
| |
| 1 | g.215867071T>C | CA423313829 | USH2A | c.8781A>G (p.Arg2927=)
| |
| 1 | g.215867071T>G | CA344851255 | USH2A | c.8781A>C (p.Arg2927Ser)
| |
| 1 | g.215867072C>A | CA344851261 | USH2A | c.8780G>T (p.Arg2927Ile)
| |
| 1 | g.215867072C= | CA1220455677 | USH2A | c.8780G= (p.Arg2927=)
| |
| 1 | g.215867072C>G | CA344851264 | USH2A | c.8780G>C (p.Arg2927Thr)
| ClinVar |
| 1 | g.215867072C>T | CA37459410 | USH2A | c.8780G>A (p.Arg2927Lys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867073T>A | CA344851268 | USH2A | c.8779A>T (p.Arg2927Ter)
| |
| 1 | g.215867073T>C | CA344851271 | USH2A | c.8779A>G (p.Arg2927Gly)
| |
| 1 | g.215867073T>G | CA423313834 | USH2A | c.8779A>C (p.Arg2927=)
| |
| 1 | g.215867074C>A | CA1394512 | USH2A | c.8778G>T (p.Glu2926Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867074C= | CA1143974986 | USH2A | c.8778G= (p.Glu2926=)
| |
| 1 | g.215867074C>G | CA344851275 | USH2A | c.8778G>C (p.Glu2926Asp)
| |
| 1 | g.215867074C>T | CA1394511 | USH2A | c.8778G>A (p.Glu2926=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867075T>A | CA344851280 | USH2A | c.8777A>T (p.Glu2926Val)
| |
| 1 | g.215867075T>C | CA344851282 | USH2A | c.8777A>G (p.Glu2926Gly)
| |
| 1 | g.215867075T>G | CA344851285 | USH2A | c.8777A>C (p.Glu2926Ala)
| |
| 1 | g.215867076C>A | CA344851289 | USH2A | c.8776G>T (p.Glu2926Ter)
| |
| 1 | g.215867076C>G | CA344851291 | USH2A | c.8776G>C (p.Glu2926Gln)
| |
| 1 | g.215867076C>T | CA344851294 | USH2A | c.8776G>A (p.Glu2926Lys)
| gnomAD v4 COSMIC COSMIC |
| 1 | g.215867077T>A | CA423313840 | USH2A | c.8775A>T (p.Pro2925=)
| COSMIC COSMIC |
| 1 | g.215867077T>C | CA423313842 | USH2A | c.8775A>G (p.Pro2925=)
| |
| 1 | g.215867077T>G | CA423313843 | USH2A | c.8775A>C (p.Pro2925=)
| |
| 1 | g.215867078G>A | CA344851302 | USH2A | c.8774C>T (p.Pro2925Leu)
| |
| 1 | g.215867078G>C | CA344851298 | USH2A | c.8774C>G (p.Pro2925Arg)
| |
| 1 | g.215867078G>T | CA344851300 | USH2A | c.8774C>A (p.Pro2925Gln)
| |
| 1 | g.215867079G>A | CA344851305 | USH2A | c.8773C>T (p.Pro2925Ser)
| |
| 1 | g.215867079G>C | CA344851306 | USH2A | c.8773C>G (p.Pro2925Ala)
| |
| 1 | g.215867079G>T | CA344851308 | USH2A | c.8773C>A (p.Pro2925Thr)
| |
| 1 | g.215867080A>C | CA423313844 | USH2A | c.8772T>G (p.Leu2924=)
| |
| 1 | g.215867080A>G | CA423313845 | USH2A | c.8772T>C (p.Leu2924=)
| |
| 1 | g.215867080A>T | CA423313846 | USH2A | c.8772T>A (p.Leu2924=)
| |
| 1 | g.215867081A= | CA1220455678 | USH2A | c.8771T= (p.Leu2924=)
| |
| 1 | g.215867081A>C | CA344851310 | USH2A | c.8771T>G (p.Leu2924Arg)
| |
| 1 | g.215867081A>G | CA344851313 | USH2A | c.8771T>C (p.Leu2924Pro)
| |
| 1 | g.215867081A>T | CA1394513 | USH2A | c.8771T>A (p.Leu2924His)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215867082G>A | CA344851319 | USH2A | c.8770C>T (p.Leu2924Phe)
| |
| 1 | g.215867082G>C | CA344851321 | USH2A | c.8770C>G (p.Leu2924Val)
| |
| 1 | g.215867082G>T | CA344851324 | USH2A | c.8770C>A (p.Leu2924Ile)
| |
| 1 | g.215867083del | CA2586968205 | USH2A | c.8769del (p.Leu2924PhefsTer20)
| |
| 1 | g.215867083A>C | CA423313850 | USH2A | c.8769T>G (p.Gly2923=)
| |
| 1 | g.215867083A>G | CA423313852 | USH2A | c.8769T>C (p.Gly2923=)
| |
| 1 | g.215867083A>T | CA423313853 | USH2A | c.8769T>A (p.Gly2923=)
| |
| 1 | g.215867084C>A | CA344851327 | USH2A | c.8768G>T (p.Gly2923Val)
| gnomAD v4 |
| 1 | g.215867084C>G | CA344851329 | USH2A | c.8768G>C (p.Gly2923Ala)
| COSMIC COSMIC |
| 1 | g.215867084C>T | CA344851332 | USH2A | c.8768G>A (p.Gly2923Asp)
| |
| 1 | g.215867085C>A | CA37459415 | USH2A | c.8767G>T (p.Gly2923Cys)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215867085C= | CA1220455679 | USH2A | c.8767G= (p.Gly2923=)
| |
| 1 | g.215867085C>G | CA344851337 | USH2A | c.8767G>C (p.Gly2923Arg)
| |
| 1 | g.215867085C>T | CA344851336 | USH2A | c.8767G>A (p.Gly2923Ser)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215867086A= | CA1220455680 | USH2A | c.8766T= (p.Ala2922=)
| |
| 1 | g.215867086A>C | CA423313856 | USH2A | c.8766T>G (p.Ala2922=)
| |
| 1 | g.215867086A>G | CA423313857 | USH2A | c.8766T>C (p.Ala2922=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215867086A>T | CA423313855 | USH2A | c.8766T>A (p.Ala2922=)
| |
| 1 | g.215867087G>A | CA344851340 | USH2A | c.8765C>T (p.Ala2922Val)
| |
| 1 | g.215867087G>C | CA344851342 | USH2A | c.8765C>G (p.Ala2922Gly)
| |
| 1 | g.215867087G>T | CA344851343 | USH2A | c.8765C>A (p.Ala2922Asp)
| |
| 1 | g.215867088C>A | CA344851345 | USH2A | c.8764G>T (p.Ala2922Ser)
| |
| 1 | g.215867088C>G | CA344851347 | USH2A | c.8764G>C (p.Ala2922Pro)
| gnomAD v4 |
| 1 | g.215867088C>T | CA344851349 | USH2A | c.8764G>A (p.Ala2922Thr)
| |
| 1 | g.215867089_215867092dup | CA2650504860 | USH2A | c.8761_8764dup (p.Ala2922ValfsTer17)
| gnomAD v4 |
| 1 | g.215867089T>A | CA344851352 | USH2A | c.8763A>T (p.Leu2921Phe)
| |
| 1 | g.215867089T>C | CA423313862 | USH2A | c.8763A>G (p.Leu2921=)
| |
| 1 | g.215867089T>G | CA344851354 | USH2A | c.8763A>C (p.Leu2921Phe)
| |
| 1 | g.215867090A>C | CA344851358 | USH2A | c.8762T>G (p.Leu2921Ter)
| |
| 1 | g.215867090A>G | CA344851360 | USH2A | c.8762T>C (p.Leu2921Ser)
| |
| 1 | g.215867090A>T | CA344851363 | USH2A | c.8762T>A (p.Leu2921Ter)
| |
| 1 | g.215867091A>C | CA344851366 | USH2A | c.8761T>G (p.Leu2921Val)
| |
| 1 | g.215867091A>G | CA423313865 | USH2A | c.8761T>C (p.Leu2921=)
| |
| 1 | g.215867091A>T | CA344851368 | USH2A | c.8761T>A (p.Leu2921Ile)
| |
| 1 | g.215867092C>A | CA1394515 | USH2A | c.8760G>T (p.Thr2920=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867092C= | CA1143423805 | USH2A | c.8760G= (p.Thr2920=)
| |
| 1 | g.215867092C>G | CA423313867 | USH2A | c.8760G>C (p.Thr2920=)
| |
| 1 | g.215867092C>T | CA1394514 | USH2A | c.8760G>A (p.Thr2920=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867092_215867095delinsCGTT | CA1220455681 | USH2A | c.8757_8760delinsAACG (p.Thr2919=)
| |
| 1 | g.215867093G>A | CA344851375 | USH2A | c.8759C>T (p.Thr2920Met)
| dbSNP gnomAD v4 COSMIC |
| 1 | g.215867093G>C | CA344851377 | USH2A | c.8759C>G (p.Thr2920Arg)
| |
| 1 | g.215867093G= | CA1220455682 | USH2A | c.8759C= (p.Thr2920=)
| |
| 1 | g.215867093G>T | CA344851379 | USH2A | c.8759C>A (p.Thr2920Lys)
| |
| 1 | g.215867095_215867097del | CA529002450 | USH2A | c.8757_8759del (p.Thr2920del)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215867094T>A | CA344851380 | USH2A | c.8758A>T (p.Thr2920Ser)
| |
| 1 | g.215867094T>C | CA1394516 | USH2A | c.8758A>G (p.Thr2920Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867094T>G | CA344851381 | USH2A | c.8758A>C (p.Thr2920Pro)
| |
| 1 | g.215867094T= | CA1220455683 | USH2A | c.8758A= (p.Thr2920=)
| |
| 1 | g.215867095T>A | CA423313873 | USH2A | c.8757A>T (p.Thr2919=)
| |
| 1 | g.215867095T>C | CA423313874 | USH2A | c.8757A>G (p.Thr2919=)
| gnomAD v4 |
| 1 | g.215867095T>G | CA423313875 | USH2A | c.8757A>C (p.Thr2919=)
| |
| 1 | g.215867096G>A | CA1394517 | USH2A | c.8756C>T (p.Thr2919Ile)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215867096G>C | CA344851382 | USH2A | c.8756C>G (p.Thr2919Arg)
| |
| 1 | g.215867096G= | CA1220455684 | USH2A | c.8756C= (p.Thr2919=)
| |
| 1 | g.215867096G>T | CA344851383 | USH2A | c.8756C>A (p.Thr2919Lys)
| COSMIC COSMIC |
| 1 | g.215867097T>A | CA344851384 | USH2A | c.8755A>T (p.Thr2919Ser)
| |
| 1 | g.215867097T>C | CA344851385 | USH2A | c.8755A>G (p.Thr2919Ala)
| |
| 1 | g.215867097T>G | CA344851386 | USH2A | c.8755A>C (p.Thr2919Pro)
| |
| 1 | g.215867098C>A | CA423313879 | USH2A | c.8754G>T (p.Val2918=)
| dbSNP |
| 1 | g.215867098C= | CA1220455685 | USH2A | c.8754G= (p.Val2918=)
| |
| 1 | g.215867098C>G | CA423313880 | USH2A | c.8754G>C (p.Val2918=)
| |
| 1 | g.215867098C>T | CA423313881 | USH2A | c.8754G>A (p.Val2918=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215867099A>C | CA344851388 | USH2A | c.8753T>G (p.Val2918Gly)
| |
| 1 | g.215867099A>G | CA344851389 | USH2A | c.8753T>C (p.Val2918Ala)
| |
| 1 | g.215867099A>T | CA344851387 | USH2A | c.8753T>A (p.Val2918Glu)
| |
| 1 | g.215867100C>A | CA1394518 | USH2A | c.8752G>T (p.Val2918Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215867100C= | CA1220455686 | USH2A | c.8752G= (p.Val2918=)
| |
| 1 | g.215867100C>G | CA344851390 | USH2A | c.8752G>C (p.Val2918Leu)
| |
| 1 | g.215867100C>T | CA344851391 | USH2A | c.8752G>A (p.Val2918Met)
| |
| 1 | g.215867101A>C | CA423313886 | USH2A | c.8751T>G (p.Thr2917=)
| |
| 1 | g.215867101A>G | CA423313888 | USH2A | c.8751T>C (p.Thr2917=)
| ClinVar dbSNP |
| 1 | g.215867101A>T | CA423313890 | USH2A | c.8751T>A (p.Thr2917=)
| |
| 1 | g.215867102G>A | CA344851392 | USH2A | c.8750C>T (p.Thr2917Ile)
| |
| 1 | g.215867102G>C | CA344851393 | USH2A | c.8750C>G (p.Thr2917Ser)
| |
| 1 | g.215867102G>T | CA344851394 | USH2A | c.8750C>A (p.Thr2917Asn)
| |
| 1 | g.215867102_215867104dup | CA2580062068 | USH2A | c.8748_8750dup (p.Thr2917_Val2918insThr)
| ClinVar |
| 1 | g.215867103T>A | CA344851395 | USH2A | c.8749A>T (p.Thr2917Ser)
| |
| 1 | g.215867103T>C | CA344851396 | USH2A | c.8749A>G (p.Thr2917Ala)
| |
| 1 | g.215867103T>G | CA344851397 | USH2A | c.8749A>C (p.Thr2917Pro)
| |
| 1 | g.215867104C>A | CA423313895 | USH2A | c.8748G>T (p.Val2916=)
| |
| 1 | g.215867104C>G | CA423313896 | USH2A | c.8748G>C (p.Val2916=)
| |
| 1 | g.215867104C>T | CA423313897 | USH2A | c.8748G>A (p.Val2916=)
| |
| 1 | g.215867105A= | CA1145962060 | USH2A | c.8747T= (p.Val2916=)
| |
| 1 | g.215867105A>C | CA344851398 | USH2A | c.8747T>G (p.Val2916Gly)
| |
| 1 | g.215867105A>G | CA37459441 | USH2A | c.8747T>C (p.Val2916Ala)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215867105A>T | CA37459432 | USH2A | c.8747T>A (p.Val2916Glu)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215867106C>A | CA344851399 | USH2A | c.8746G>T (p.Val2916Leu)
| |
| 1 | g.215867106C= | CA1220455687 | USH2A | c.8746G= (p.Val2916=)
| |
| 1 | g.215867106C>G | CA344851400 | USH2A | c.8746G>C (p.Val2916Leu)
| |
| 1 | g.215867106C>T | CA344851401 | USH2A | c.8746G>A (p.Val2916Met)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215867107T>A | CA344851403 | USH2A | c.8745A>T (p.Glu2915Asp)
| |
| 1 | g.215867107T>C | CA423313902 | USH2A | c.8745A>G (p.Glu2915=)
| |
| 1 | g.215867107T>G | CA344851402 | USH2A | c.8745A>C (p.Glu2915Asp)
| |
| 1 | g.215867108T>A | CA344851404 | USH2A | c.8744A>T (p.Glu2915Val)
| |
| 1 | g.215867108T>C | CA344851405 | USH2A | c.8744A>G (p.Glu2915Gly)
| |
| 1 | g.215867108T>G | CA344851406 | USH2A | c.8744A>C (p.Glu2915Ala)
| |
| 1 | g.215867109C>A | CA344851407 | USH2A | c.8743G>T (p.Glu2915Ter)
| |
| 1 | g.215867109C>G | CA344851408 | USH2A | c.8743G>C (p.Glu2915Gln)
| |
| 1 | g.215867109C>T | CA344851409 | USH2A | c.8743G>A (p.Glu2915Lys)
| |
| 1 | g.215867110T>A | CA423313908 | USH2A | c.8742A>T (p.Arg2914=)
| |
| 1 | g.215867110T>C | CA423313909 | USH2A | c.8742A>G (p.Arg2914=)
| |
| 1 | g.215867110T>G | CA423313910 | USH2A | c.8742A>C (p.Arg2914=)
| |
| 1 | g.215867111C>A | CA344851410 | USH2A | c.8741G>T (p.Arg2914Leu)
| COSMIC COSMIC |
| 1 | g.215867111C= | CA1220455688 | USH2A | c.8741G= (p.Arg2914=)
| |
| 1 | g.215867111C>G | CA344851411 | USH2A | c.8741G>C (p.Arg2914Pro)
| |
| 1 | g.215867111C>T | CA1394519 | USH2A | c.8741G>A (p.Arg2914Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867112G>A | CA1394520 | USH2A | c.8740C>T (p.Arg2914Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.215867112G>C | CA344851412 | USH2A | c.8740C>G (p.Arg2914Gly)
| |
| 1 | g.215867112G= | CA1220455689 | USH2A | c.8740C= (p.Arg2914=)
| |
| 1 | g.215867112G>T | CA423313917 | USH2A | c.8740C>A (p.Arg2914=)
| |
| 1 | g.215867113G>A | CA423313918 | USH2A | c.8739C>T (p.Ser2913=)
| |
| 1 | g.215867113G>C | CA344851413 | USH2A | c.8739C>G (p.Ser2913Arg)
| |
| 1 | g.215867113G>T | CA344851414 | USH2A | c.8739C>A (p.Ser2913Arg)
| |
| 1 | g.215867114C>A | CA344851415 | USH2A | c.8738G>T (p.Ser2913Ile)
| dbSNP |
| 1 | g.215867114C= | CA1220455690 | USH2A | c.8738G= (p.Ser2913=)
| |
| 1 | g.215867114C>G | CA344851417 | USH2A | c.8738G>C (p.Ser2913Thr)
| |
| 1 | g.215867114C>T | CA344851416 | USH2A | c.8738G>A (p.Ser2913Asn)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215867115T>A | CA344851418 | USH2A | c.8737A>T (p.Ser2913Cys)
| |
| 1 | g.215867115T>C | CA344851419 | USH2A | c.8737A>G (p.Ser2913Gly)
| |
| 1 | g.215867115T>G | CA344851420 | USH2A | c.8737A>C (p.Ser2913Arg)
| |
| 1 | g.215867116C>A | CA423313923 | USH2A | c.8736G>T (p.Pro2912=)
| COSMIC COSMIC |
| 1 | g.215867116C= | CA1220455691 | USH2A | c.8736G= (p.Pro2912=)
| |
| 1 | g.215867116C>G | CA423313924 | USH2A | c.8736G>C (p.Pro2912=)
| ClinVar dbSNP |
| 1 | g.215867116C>T | CA37459460 | USH2A | c.8736G>A (p.Pro2912=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867117G>A | CA1394521 | USH2A | c.8735C>T (p.Pro2912Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867117G>C | CA344851421 | USH2A | c.8735C>G (p.Pro2912Arg)
| COSMIC |
| 1 | g.215867117G= | CA1144176820 | USH2A | c.8735C= (p.Pro2912=)
| |
| 1 | g.215867117G>T | CA344851422 | USH2A | c.8735C>A (p.Pro2912Gln)
| gnomAD v4 |
| 1 | g.215867118G>A | CA344851423 | USH2A | c.8734C>T (p.Pro2912Ser)
| |
| 1 | g.215867118G>C | CA1394522 | USH2A | c.8734C>G (p.Pro2912Ala)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867118G= | CA1143727175 | USH2A | c.8734C= (p.Pro2912=)
| |
| 1 | g.215867118G>T | CA344851424 | USH2A | c.8734C>A (p.Pro2912Thr)
| gnomAD v4 |
| 1 | g.215867119T>A | CA423313927 | USH2A | c.8733A>T (p.Thr2911=)
| |
| 1 | g.215867119T>C | CA423313929 | USH2A | c.8733A>G (p.Thr2911=)
| |
| 1 | g.215867119T>G | CA1394523 | USH2A | c.8733A>C (p.Thr2911=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215867119T= | CA1220455692 | USH2A | c.8733A= (p.Thr2911=)
| |
| 1 | g.215867120G>A | CA1394524 | USH2A | c.8732C>T (p.Thr2911Ile)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867120G>C | CA344851425 | USH2A | c.8732C>G (p.Thr2911Arg)
| |
| 1 | g.215867120G= | CA1220455693 | USH2A | c.8732C= (p.Thr2911=)
| |
| 1 | g.215867120G>T | CA344851426 | USH2A | c.8732C>A (p.Thr2911Lys)
| |
| 1 | g.215867121T>A | CA344851427 | USH2A | c.8731A>T (p.Thr2911Ser)
| |
| 1 | g.215867121T>C | CA344851429 | USH2A | c.8731A>G (p.Thr2911Ala)
| |
| 1 | g.215867121T>G | CA344851428 | USH2A | c.8731A>C (p.Thr2911Pro)
| gnomAD v4 |
| 1 | g.215867122A= | CA1143953368 | USH2A | c.8730T= (p.Phe2910=)
| |
| 1 | g.215867122A>C | CA344851430 | USH2A | c.8730T>G (p.Phe2910Leu)
| |
| 1 | g.215867122A>G | CA423313933 | USH2A | c.8730T>C (p.Phe2910=)
| |
| 1 | g.215867122A>T | CA245700 | USH2A | c.8730T>A (p.Phe2910Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867125dup | CA2586968206 | USH2A | c.8730dup (p.Thr2911TyrfsTer27)
| |
| 1 | g.215867123A>C | CA344851431 | USH2A | c.8729T>G (p.Phe2910Cys)
| |
| 1 | g.215867123A>G | CA344851432 | USH2A | c.8729T>C (p.Phe2910Ser)
| |
| 1 | g.215867123A>T | CA344851433 | USH2A | c.8729T>A (p.Phe2910Tyr)
| |
| 1 | g.215867124A>C | CA344851434 | USH2A | c.8728T>G (p.Phe2910Val)
| |
| 1 | g.215867124A>G | CA344851435 | USH2A | c.8728T>C (p.Phe2910Leu)
| |
| 1 | g.215867124A>T | CA344851436 | USH2A | c.8728T>A (p.Phe2910Ile)
| |
| 1 | g.215867125A= | CA1220455694 | USH2A | c.8727T= (p.Gly2909=)
| |
| 1 | g.215867125A>C | CA423313939 | USH2A | c.8727T>G (p.Gly2909=)
| |
| 1 | g.215867125A>G | CA423313940 | USH2A | c.8727T>C (p.Gly2909=)
| ClinVar dbSNP |
| 1 | g.215867125A>T | CA423313942 | USH2A | c.8727T>A (p.Gly2909=)
| |
| 1 | g.215867126C>A | CA344851437 | USH2A | c.8726G>T (p.Gly2909Val)
| |
| 1 | g.215867126C= | CA1220455695 | USH2A | c.8726G= (p.Gly2909=)
| |
| 1 | g.215867126C>G | CA344851438 | USH2A | c.8726G>C (p.Gly2909Ala)
| |
| 1 | g.215867126C>T | CA344851439 | USH2A | c.8726G>A (p.Gly2909Asp)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215867127C>A | CA37459482 | USH2A | c.8725G>T (p.Gly2909Cys)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215867127C= | CA1220455696 | USH2A | c.8725G= (p.Gly2909=)
| |
| 1 | g.215867127C>G | CA344851440 | USH2A | c.8725G>C (p.Gly2909Arg)
| |
| 1 | g.215867127C>T | CA1394525 | USH2A | c.8725G>A (p.Gly2909Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215867128C>A | CA423313948 | USH2A | c.8724G>T (p.Val2908=)
| gnomAD v4 |
| 1 | g.215867128C= | CA1141674471 | USH2A | c.8724G= (p.Val2908=)
| |
| 1 | g.215867128C>G | CA1394526 | USH2A | c.8724G>C (p.Val2908=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215867128C>T | CA423313945 | USH2A | c.8724G>A (p.Val2908=)
| dbSNP COSMIC COSMIC |
| 1 | g.215867131_215867132del | CA2580611547 | USH2A | c.8723_8724del (p.Val2908GlyfsTer29)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215867129A= | CA1148426591 | USH2A | c.8723T= (p.Val2908=)
| |
| 1 | g.215867129A>C | CA344851441 | USH2A | c.8723T>G (p.Val2908Gly)
| |
| 1 | g.215867129A>G | CA1394527 | USH2A | c.8723T>C (p.Val2908Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215867129A>T | CA344851442 | USH2A | c.8723T>A (p.Val2908Glu)
| |
| 1 | g.215867130C>A | CA344851443 | USH2A | c.8722G>T (p.Val2908Leu)
| |
| 1 | g.215867130C>G | CA344851444 | USH2A | c.8722G>C (p.Val2908Leu)
| |
| 1 | g.215867130C>T | CA344851445 | USH2A | c.8722G>A (p.Val2908Met)
| |
| 1 | g.215867131A= | CA1220455697 | USH2A | c.8721T= (p.Ser2907=)
| |
| 1 | g.215867131A>C | CA344851446 | USH2A | c.8721T>G (p.Ser2907Arg)
| |
| 1 | g.215867131A>G | CA423313955 | USH2A | c.8721T>C (p.Ser2907=)
| |
| 1 | g.215867131A>T | CA344851447 | USH2A | c.8721T>A (p.Ser2907Arg)
| ClinVar dbSNP |
| 1 | g.215867132C>A | CA344851448 | USH2A | c.8720G>T (p.Ser2907Ile)
| |
| 1 | g.215867132C= | CA1220455698 | USH2A | c.8720G= (p.Ser2907=)
| |
| 1 | g.215867132C>G | CA344851449 | USH2A | c.8720G>C (p.Ser2907Thr)
| |
| 1 | g.215867132C>T | CA1394528 | USH2A | c.8720G>A (p.Ser2907Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215867133T>A | CA344851450 | USH2A | c.8719A>T (p.Ser2907Cys)
| |
| 1 | g.215867133T>C | CA1394530 | USH2A | c.8719A>G (p.Ser2907Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215867133T>G | CA1394529 | USH2A | c.8719A>C (p.Ser2907Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867133T= | CA1220455699 | USH2A | c.8719A= (p.Ser2907=)
| |
| 1 | g.215867134_215867135del | CA2574133184 | USH2A | c.8718_8719del (p.Asn2906LysfsTer?)
| |
| 1 | g.215867136_215867138dup | CA529002451 | USH2A | c.8717_8719dup (p.Asn2906_Ser2907insAsn)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215867133_215867140del | CA2747724324 | USH2A | c.8712_8719del (p.His2905CysfsTer?)
| |
| 1 | g.215867134G>A | CA423313960 | USH2A | c.8718C>T (p.Asn2906=)
| |
| 1 | g.215867134G>C | CA344851451 | USH2A | c.8718C>G (p.Asn2906Lys)
| |
| 1 | g.215867134G>T | CA344851452 | USH2A | c.8718C>A (p.Asn2906Lys)
| |
| 1 | g.215867135T>A | CA344851453 | USH2A | c.8717A>T (p.Asn2906Ile)
| |
| 1 | g.215867135T>C | CA344851454 | USH2A | c.8717A>G (p.Asn2906Ser)
| COSMIC COSMIC |
| 1 | g.215867135T>G | CA344851455 | USH2A | c.8717A>C (p.Asn2906Thr)
| |
| 1 | g.215867135_215867140dup | CA2650504861 | USH2A | c.8712_8717dup (p.His2905_Asn2906insLysHis)
| gnomAD v4 |
| 1 | g.215867136T>A | CA344851456 | USH2A | c.8716A>T (p.Asn2906Tyr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867136T>C | CA344851457 | USH2A | c.8716A>G (p.Asn2906Asp)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215867136T>G | CA344851458 | USH2A | c.8716A>C (p.Asn2906His)
| |
| 1 | g.215867136T= | CA1220455700 | USH2A | c.8716A= (p.Asn2906=)
| |
| 1 | g.215867137G>A | CA423313965 | USH2A | c.8715C>T (p.His2905=)
| |
| 1 | g.215867137G>C | CA344851459 | USH2A | c.8715C>G (p.His2905Gln)
| |
| 1 | g.215867137G>T | CA344851460 | USH2A | c.8715C>A (p.His2905Gln)
| |
| 1 | g.215867138T>A | CA344851461 | USH2A | c.8714A>T (p.His2905Leu)
| |
| 1 | g.215867138T>C | CA344851462 | USH2A | c.8714A>G (p.His2905Arg)
| |
| 1 | g.215867138T>G | CA344851463 | USH2A | c.8714A>C (p.His2905Pro)
| |
| 1 | g.215867138dup | CA2573051481 | USH2A | c.8714dup (p.His2905GlnfsTer?)
| ClinVar dbSNP |
| 1 | g.215867139G>A | CA344851464 | USH2A | c.8713C>T (p.His2905Tyr)
| |
| 1 | g.215867139G>C | CA344851465 | USH2A | c.8713C>G (p.His2905Asp)
| |
| 1 | g.215867139G= | CA1220455701 | USH2A | c.8713C= (p.His2905=)
| |
| 1 | g.215867139G>T | CA1394531 | USH2A | c.8713C>A (p.His2905Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215867140T>A | CA423313970 | USH2A | c.8712A>T (p.Val2904=)
| |
| 1 | g.215867140T>C | CA1394532 | USH2A | c.8712A>G (p.Val2904=)
| ClinVar dbSNP ExAC gnomAD v4 |
| 1 | g.215867140T>G | CA423313972 | USH2A | c.8712A>C (p.Val2904=)
| |
| 1 | g.215867140T= | CA1220455702 | USH2A | c.8712A= (p.Val2904=)
| |
| 1 | g.215867141A>C | CA344851466 | USH2A | c.8711T>G (p.Val2904Gly)
| |
| 1 | g.215867141A>G | CA344851467 | USH2A | c.8711T>C (p.Val2904Ala)
| |
| 1 | g.215867141A>T | CA344851468 | USH2A | c.8711T>A (p.Val2904Glu)
| |
| 1 | g.215867142C>A | CA344851469 | USH2A | c.8710G>T (p.Val2904Leu)
| ClinVar |
| 1 | g.215867142C= | CA1141881225 | USH2A | c.8710G= (p.Val2904=)
| |
| 1 | g.215867142C>G | CA37459516 | USH2A | c.8710G>C (p.Val2904Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867142C>T | CA1394533 | USH2A | c.8710G>A (p.Val2904Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.215867143G>A | CA143638 | USH2A | c.8709C>T (p.Phe2903=)
| ClinVar dbSNP gnomAD v4 COSMIC |
| 1 | g.215867143G>C | CA344851470 | USH2A | c.8709C>G (p.Phe2903Leu)
| |
| 1 | g.215867143G= | CA1144229149 | USH2A | c.8709C= (p.Phe2903=)
| |
| 1 | g.215867143G>T | CA344851471 | USH2A | c.8709C>A (p.Phe2903Leu)
| |
| 1 | g.215867144A>C | CA344851472 | USH2A | c.8708T>G (p.Phe2903Cys)
| |
| 1 | g.215867144A>G | CA344851473 | USH2A | c.8708T>C (p.Phe2903Ser)
| |
| 1 | g.215867144A>T | CA344851474 | USH2A | c.8708T>A (p.Phe2903Tyr)
| |
| 1 | g.215867145A>C | CA344851476 | USH2A | c.8707T>G (p.Phe2903Val)
| |
| 1 | g.215867145A>G | CA344851477 | USH2A | c.8707T>C (p.Phe2903Leu)
| |
| 1 | g.215867145A>T | CA344851475 | USH2A | c.8707T>A (p.Phe2903Ile)
| |
| 1 | g.215867146G>A | CA423313980 | USH2A | c.8706C>T (p.Leu2902=)
| |
| 1 | g.215867146G>C | CA423313981 | USH2A | c.8706C>G (p.Leu2902=)
| |
| 1 | g.215867146G>T | CA423313982 | USH2A | c.8706C>A (p.Leu2902=)
| |
| 1 | g.215867147A>C | CA344851478 | USH2A | c.8705T>G (p.Leu2902Arg)
| |
| 1 | g.215867147A>G | CA344851479 | USH2A | c.8705T>C (p.Leu2902Pro)
| ClinVar dbSNP |
| 1 | g.215867147A>T | CA344851480 | USH2A | c.8705T>A (p.Leu2902His)
| |
| 1 | g.215867148G>A | CA344851481 | USH2A | c.8704C>T (p.Leu2902Phe)
| |
| 1 | g.215867148G>C | CA344851482 | USH2A | c.8704C>G (p.Leu2902Val)
| |
| 1 | g.215867148G>T | CA344851483 | USH2A | c.8704C>A (p.Leu2902Ile)
| |
| 1 | g.215867149C>A | CA344851486 | USH2A | c.8703G>T (p.Met2901Ile)
| |
| 1 | g.215867149C>G | CA344851484 | USH2A | c.8703G>C (p.Met2901Ile)
| gnomAD v4 |
| 1 | g.215867149C>T | CA344851485 | USH2A | c.8703G>A (p.Met2901Ile)
| |
