Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.121854703C>A | CA104766659 | BBS7 | c.718+1G>T (n.718+1G>T) c.721+1G>T (n.721+1G>T) c.766+1G>T (n.766+1G>T) c.763+1G>T (n.763+1G>T) | dbSNP |
4 | g.121854703C= | CA1490025969 | BBS7 | c.718+1G= (n.718+1G=) c.721+1G= (n.721+1G=) c.766+1G= (n.766+1G=) c.763+1G= (n.763+1G=) | |
4 | g.121854703C>G | CA358065520 | BBS7 | c.718+1G>C (n.718+1G>C) c.721+1G>C (n.721+1G>C) c.766+1G>C (n.766+1G>C) c.763+1G>C (n.763+1G>C) | ClinVar |
4 | g.121854703C>T | CA358065522 | BBS7 | c.718+1G>A (n.718+1G>A) c.721+1G>A (n.721+1G>A) c.766+1G>A (n.766+1G>A) c.763+1G>A (n.763+1G>A) | |
4 | g.121854707_121854709dup | CA2671949185 | BBS7 | c.717_718+1dup c.720_721+1dup c.765_766+1dup c.762_763+1dup | gnomAD v4 |
4 | g.121854704C>A | CA358065523 | BBS7 | c.718G>T (p.Gly240Cys) c.721G>T (p.Gly241Cys) c.766G>T (p.Gly256Cys) c.763G>T (p.Gly255Cys) | |
4 | g.121854704C= | CA1490025970 | BBS7 | c.718G= (p.Gly240=) c.721G= (p.Gly241=) c.766G= (p.Gly256=) c.763G= (p.Gly255=) | |
4 | g.121854704C>G | CA358065524 | BBS7 | c.718G>C (p.Gly240Arg) c.721G>C (p.Gly241Arg) c.766G>C (p.Gly256Arg) c.763G>C (p.Gly255Arg) | |
4 | g.121854704C>T | CA3064431 | BBS7 | c.718G>A (p.Gly240Ser) c.721G>A (p.Gly241Ser) c.766G>A (p.Gly256Ser) c.763G>A (p.Gly255Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.121854705T>A | CA440922761 | BBS7 | c.717A>T (p.Gly239=) c.720A>T (p.Gly240=) c.765A>T (p.Gly255=) c.762A>T (p.Gly254=) | |
4 | g.121854705T>C | CA440922762 | BBS7 | c.717A>G (p.Gly239=) c.720A>G (p.Gly240=) c.765A>G (p.Gly255=) c.762A>G (p.Gly254=) | |
4 | g.121854705T>G | CA440922763 | BBS7 | c.717A>C (p.Gly239=) c.720A>C (p.Gly240=) c.765A>C (p.Gly255=) c.762A>C (p.Gly254=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.121854705T= | CA1490025971 | BBS7 | c.717A= (p.Gly239=) c.720A= (p.Gly240=) c.765A= (p.Gly255=) c.762A= (p.Gly254=) | |
4 | g.121854706C>A | CA358065533 | BBS7 | c.716G>T (p.Gly239Val) c.719G>T (p.Gly240Val) c.764G>T (p.Gly255Val) c.761G>T (p.Gly254Val) | |
4 | g.121854706C>G | CA358065540 | BBS7 | c.716G>C (p.Gly239Ala) c.719G>C (p.Gly240Ala) c.764G>C (p.Gly255Ala) c.761G>C (p.Gly254Ala) | |
4 | g.121854706C>T | CA358065529 | BBS7 | c.716G>A (p.Gly239Glu) c.719G>A (p.Gly240Glu) c.764G>A (p.Gly255Glu) c.761G>A (p.Gly254Glu) | |
4 | g.121854706_121854710delinsCCTCT | CA1490025972 | BBS7 | c.712_716delinsAGAGG (p.Arg238=) c.715_719delinsAGAGG (p.Arg239=) c.760_764delinsAGAGG (p.Arg254=) c.757_761delinsAGAGG (p.Arg253=) | |
4 | g.121854707C>A | CA358065544 | BBS7 | c.715G>T (p.Gly239Ter) c.718G>T (p.Gly240Ter) c.763G>T (p.Gly255Ter) c.760G>T (p.Gly254Ter) | |
4 | g.121854707C>G | CA358065545 | BBS7 | c.715G>C (p.Gly239Arg) c.718G>C (p.Gly240Arg) c.763G>C (p.Gly255Arg) c.760G>C (p.Gly254Arg) | |
4 | g.121854707C>T | CA358065546 | BBS7 | c.715G>A (p.Gly239Arg) c.718G>A (p.Gly240Arg) c.763G>A (p.Gly255Arg) c.760G>A (p.Gly254Arg) | |
4 | g.121854709_121854712del | CA3064432 | BBS7 | c.712_715del (p.Arg238GlufsTer?) c.715_718del (p.Arg239GlufsTer?) c.760_763del (p.Arg254GlufsTer?) c.757_760del (p.Arg253GlufsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.121854708T>A | CA358065550 | BBS7 | c.714A>T (p.Arg238Ser) c.717A>T (p.Arg239Ser) c.762A>T (p.Arg254Ser) c.759A>T (p.Arg253Ser) | |
4 | g.121854708T>C | CA440922765 | BBS7 | c.714A>G (p.Arg238=) c.717A>G (p.Arg239=) c.762A>G (p.Arg254=) c.759A>G (p.Arg253=) | gnomAD v4 |
4 | g.121854708T>G | CA358065552 | BBS7 | c.714A>C (p.Arg238Ser) c.717A>C (p.Arg239Ser) c.762A>C (p.Arg254Ser) c.759A>C (p.Arg253Ser) | |
4 | g.121854709C>A | CA358065553 | BBS7 | c.713G>T (p.Arg238Ile) c.716G>T (p.Arg239Ile) c.761G>T (p.Arg254Ile) c.758G>T (p.Arg253Ile) | |
4 | g.121854709C>G | CA358065554 | BBS7 | c.713G>C (p.Arg238Thr) c.716G>C (p.Arg239Thr) c.761G>C (p.Arg254Thr) c.758G>C (p.Arg253Thr) | |
4 | g.121854709C>T | CA358065555 | BBS7 | c.713G>A (p.Arg238Lys) c.716G>A (p.Arg239Lys) c.761G>A (p.Arg254Lys) c.758G>A (p.Arg253Lys) | gnomAD v4 |
4 | g.121854709_121854713delinsCTCTT | CA1490025973 | BBS7 | c.709_713delinsAAGAG (p.Lys237=) c.712_716delinsAAGAG (p.Lys238=) c.757_761delinsAAGAG (p.Lys253=) c.754_758delinsAAGAG (p.Lys252=) | |
4 | g.121854710T>A | CA358065556 | BBS7 | c.712A>T (p.Arg238Ter) c.715A>T (p.Arg239Ter) c.760A>T (p.Arg254Ter) c.757A>T (p.Arg253Ter) | |
4 | g.121854710T>C | CA358065560 | BBS7 | c.712A>G (p.Arg238Gly) c.715A>G (p.Arg239Gly) c.760A>G (p.Arg254Gly) c.757A>G (p.Arg253Gly) | gnomAD v4 |
4 | g.121854710T>G | CA440922768 | BBS7 | c.712A>C (p.Arg238=) c.715A>C (p.Arg239=) c.760A>C (p.Arg254=) c.757A>C (p.Arg253=) | |
4 | g.121854711_121854714del | CA252535 | BBS7 | c.709_712del (p.Lys237GlufsTer?) c.712_715del (p.Lys238GlufsTer?) c.757_760del (p.Lys253GlufsTer?) c.754_757del (p.Lys252GlufsTer?) | ClinVar dbSNP |
4 | g.121854711C>A | CA358065574 | BBS7 | c.711G>T (p.Lys237Asn) c.714G>T (p.Lys238Asn) c.759G>T (p.Lys253Asn) c.756G>T (p.Lys252Asn) | ClinVar |
4 | g.121854711C>G | CA358065573 | BBS7 | c.711G>C (p.Lys237Asn) c.714G>C (p.Lys238Asn) c.759G>C (p.Lys253Asn) c.756G>C (p.Lys252Asn) | |
4 | g.121854711C>T | CA440922769 | BBS7 | c.711G>A (p.Lys237=) c.714G>A (p.Lys238=) c.759G>A (p.Lys253=) c.756G>A (p.Lys252=) | |
4 | g.121854712T>A | CA358065575 | BBS7 | c.710A>T (p.Lys237Met) c.713A>T (p.Lys238Met) c.758A>T (p.Lys253Met) c.755A>T (p.Lys252Met) | |
4 | g.121854712T>C | CA358065576 | BBS7 | c.710A>G (p.Lys237Arg) c.713A>G (p.Lys238Arg) c.758A>G (p.Lys253Arg) c.755A>G (p.Lys252Arg) | dbSNP gnomAD v4 |
4 | g.121854712T>G | CA358065577 | BBS7 | c.710A>C (p.Lys237Thr) c.713A>C (p.Lys238Thr) c.758A>C (p.Lys253Thr) c.755A>C (p.Lys252Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.121854712T= | CA1490025974 | BBS7 | c.710A= (p.Lys237=) c.713A= (p.Lys238=) c.758A= (p.Lys253=) c.755A= (p.Lys252=) | |
4 | g.121854716del | CA2671949186 | BBS7 | c.710del (p.Lys237ArgfsTer?) c.713del (p.Lys238ArgfsTer?) c.758del (p.Lys253ArgfsTer?) c.755del (p.Lys252ArgfsTer?) | gnomAD v4 |
4 | g.121854713T>A | CA358065578 | BBS7 | c.709A>T (p.Lys237Ter) c.712A>T (p.Lys238Ter) c.757A>T (p.Lys253Ter) c.754A>T (p.Lys252Ter) | |
4 | g.121854713T>C | CA358065579 | BBS7 | c.709A>G (p.Lys237Glu) c.712A>G (p.Lys238Glu) c.757A>G (p.Lys253Glu) c.754A>G (p.Lys252Glu) | |
4 | g.121854713T>G | CA358065582 | BBS7 | c.709A>C (p.Lys237Gln) c.712A>C (p.Lys238Gln) c.757A>C (p.Lys253Gln) c.754A>C (p.Lys252Gln) | gnomAD v4 |
4 | g.121854714T>A | CA358065584 | BBS7 | c.708A>T (p.Lys236Asn) c.711A>T (p.Lys237Asn) c.756A>T (p.Lys252Asn) c.753A>T (p.Lys251Asn) | |
4 | g.121854714T>C | CA440922773 | BBS7 | c.708A>G (p.Lys236=) c.711A>G (p.Lys237=) c.756A>G (p.Lys252=) c.753A>G (p.Lys251=) | dbSNP gnomAD v2 |
4 | g.121854714T>G | CA358065587 | BBS7 | c.708A>C (p.Lys236Asn) c.711A>C (p.Lys237Asn) c.756A>C (p.Lys252Asn) c.753A>C (p.Lys251Asn) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.121854714T= | CA1490025975 | BBS7 | c.708A= (p.Lys236=) c.711A= (p.Lys237=) c.756A= (p.Lys252=) c.753A= (p.Lys251=) | |
4 | g.121854715T>A | CA358065591 | BBS7 | c.707A>T (p.Lys236Ile) c.710A>T (p.Lys237Ile) c.755A>T (p.Lys252Ile) c.752A>T (p.Lys251Ile) | |
4 | g.121854715T>C | CA358065595 | BBS7 | c.707A>G (p.Lys236Arg) c.710A>G (p.Lys237Arg) c.755A>G (p.Lys252Arg) c.752A>G (p.Lys251Arg) | |
4 | g.121854715T>G | CA358065606 | BBS7 | c.707A>C (p.Lys236Thr) c.710A>C (p.Lys237Thr) c.755A>C (p.Lys252Thr) c.752A>C (p.Lys251Thr) | |
4 | g.121854716T>A | CA358065612 | BBS7 | c.706A>T (p.Lys236Ter) c.709A>T (p.Lys237Ter) c.754A>T (p.Lys252Ter) c.751A>T (p.Lys251Ter) | |
4 | g.121854716T>C | CA358065613 | BBS7 | c.706A>G (p.Lys236Glu) c.709A>G (p.Lys237Glu) c.754A>G (p.Lys252Glu) c.751A>G (p.Lys251Glu) | |
4 | g.121854716T>G | CA358065614 | BBS7 | c.706A>C (p.Lys236Gln) c.709A>C (p.Lys237Gln) c.754A>C (p.Lys252Gln) c.751A>C (p.Lys251Gln) | |
4 | g.121854717C>A | CA358065615 | BBS7 | c.705G>T (p.Glu235Asp) c.708G>T (p.Glu236Asp) c.753G>T (p.Glu251Asp) c.750G>T (p.Glu250Asp) | |
4 | g.121854717C>G | CA358065616 | BBS7 | c.705G>C (p.Glu235Asp) c.708G>C (p.Glu236Asp) c.753G>C (p.Glu251Asp) c.750G>C (p.Glu250Asp) | |
4 | g.121854717C>T | CA440922775 | BBS7 | c.705G>A (p.Glu235=) c.708G>A (p.Glu236=) c.753G>A (p.Glu251=) c.750G>A (p.Glu250=) | |
4 | g.121854718T>A | CA358065620 | BBS7 | c.704A>T (p.Glu235Val) c.707A>T (p.Glu236Val) c.752A>T (p.Glu251Val) c.749A>T (p.Glu250Val) | |
4 | g.121854718T>C | CA358065639 | BBS7 | c.704A>G (p.Glu235Gly) c.707A>G (p.Glu236Gly) c.752A>G (p.Glu251Gly) c.749A>G (p.Glu250Gly) | |
4 | g.121854718T>G | CA358065636 | BBS7 | c.704A>C (p.Glu235Ala) c.707A>C (p.Glu236Ala) c.752A>C (p.Glu251Ala) c.749A>C (p.Glu250Ala) | |
4 | g.121854719C>A | CA358065641 | BBS7 | c.703G>T (p.Glu235Ter) c.706G>T (p.Glu236Ter) c.751G>T (p.Glu251Ter) c.748G>T (p.Glu250Ter) | |
4 | g.121854719C>G | CA358065646 | BBS7 | c.703G>C (p.Glu235Gln) c.706G>C (p.Glu236Gln) c.751G>C (p.Glu251Gln) c.748G>C (p.Glu250Gln) | |
4 | g.121854719C>T | CA358065643 | BBS7 | c.703G>A (p.Glu235Lys) c.706G>A (p.Glu236Lys) c.751G>A (p.Glu251Lys) c.748G>A (p.Glu250Lys) | |
4 | g.121854720A= | CA1490025976 | BBS7 | c.702T= (p.Asn234=) c.705T= (p.Asn235=) c.750T= (p.Asn250=) c.747T= (p.Asn249=) | |
4 | g.121854720A>C | CA358065651 | BBS7 | c.702T>G (p.Asn234Lys) c.705T>G (p.Asn235Lys) c.750T>G (p.Asn250Lys) c.747T>G (p.Asn249Lys) | gnomAD v4 |
4 | g.121854720A>G | CA440922776 | BBS7 | c.702T>C (p.Asn234=) c.705T>C (p.Asn235=) c.750T>C (p.Asn250=) c.747T>C (p.Asn249=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.121854720A>T | CA358065653 | BBS7 | c.702T>A (p.Asn234Lys) c.705T>A (p.Asn235Lys) c.750T>A (p.Asn250Lys) c.747T>A (p.Asn249Lys) | |
4 | g.121854721T>A | CA358065656 | BBS7 | c.701A>T (p.Asn234Ile) c.704A>T (p.Asn235Ile) c.749A>T (p.Asn250Ile) c.746A>T (p.Asn249Ile) | |
4 | g.121854721T>C | CA358065659 | BBS7 | c.701A>G (p.Asn234Ser) c.704A>G (p.Asn235Ser) c.749A>G (p.Asn250Ser) c.746A>G (p.Asn249Ser) | |
4 | g.121854721T>G | CA358065662 | BBS7 | c.701A>C (p.Asn234Thr) c.704A>C (p.Asn235Thr) c.749A>C (p.Asn250Thr) c.746A>C (p.Asn249Thr) | |
4 | g.121854722T>A | CA358065664 | BBS7 | c.700A>T (p.Asn234Tyr) c.703A>T (p.Asn235Tyr) c.748A>T (p.Asn250Tyr) c.745A>T (p.Asn249Tyr) | |
4 | g.121854722T>C | CA358065666 | BBS7 | c.700A>G (p.Asn234Asp) c.703A>G (p.Asn235Asp) c.748A>G (p.Asn250Asp) c.745A>G (p.Asn249Asp) | |
4 | g.121854722T>G | CA358065667 | BBS7 | c.700A>C (p.Asn234His) c.703A>C (p.Asn235His) c.748A>C (p.Asn250His) c.745A>C (p.Asn249His) | |
4 | g.121854723T>A | CA358065668 | BBS7 | c.699A>T (p.Gln233His) c.702A>T (p.Gln234His) c.747A>T (p.Gln249His) c.744A>T (p.Gln248His) | |
4 | g.121854723T>C | CA440922777 | BBS7 | c.699A>G (p.Gln233=) c.702A>G (p.Gln234=) c.747A>G (p.Gln249=) c.744A>G (p.Gln248=) | |
4 | g.121854723T>G | CA358065670 | BBS7 | c.699A>C (p.Gln233His) c.702A>C (p.Gln234His) c.747A>C (p.Gln249His) c.744A>C (p.Gln248His) | |
4 | g.121854724T>A | CA358065679 | BBS7 | c.698A>T (p.Gln233Leu) c.701A>T (p.Gln234Leu) c.746A>T (p.Gln249Leu) c.743A>T (p.Gln248Leu) | |
4 | g.121854724T>C | CA358065674 | BBS7 | c.698A>G (p.Gln233Arg) c.701A>G (p.Gln234Arg) c.746A>G (p.Gln249Arg) c.743A>G (p.Gln248Arg) | |
4 | g.121854724T>G | CA358065672 | BBS7 | c.698A>C (p.Gln233Pro) c.701A>C (p.Gln234Pro) c.746A>C (p.Gln249Pro) c.743A>C (p.Gln248Pro) | |
4 | g.121854725G>A | CA358065681 | BBS7 | c.697C>T (p.Gln233Ter) c.700C>T (p.Gln234Ter) c.745C>T (p.Gln249Ter) c.742C>T (p.Gln248Ter) | |
4 | g.121854725G>C | CA358065683 | BBS7 | c.697C>G (p.Gln233Glu) c.700C>G (p.Gln234Glu) c.745C>G (p.Gln249Glu) c.742C>G (p.Gln248Glu) | |
4 | g.121854725G>T | CA358065688 | BBS7 | c.697C>A (p.Gln233Lys) c.700C>A (p.Gln234Lys) c.745C>A (p.Gln249Lys) c.742C>A (p.Gln248Lys) | |
4 | g.121854726A= | CA1490025977 | BBS7 | c.696T= (p.Ile232=) c.699T= (p.Ile233=) c.744T= (p.Ile248=) c.741T= (p.Ile247=) | |
4 | g.121854726A>C | CA358065692 | BBS7 | c.696T>G (p.Ile232Met) c.699T>G (p.Ile233Met) c.744T>G (p.Ile248Met) c.741T>G (p.Ile247Met) | dbSNP |
4 | g.121854726A>G | CA440922778 | BBS7 | c.696T>C (p.Ile232=) c.699T>C (p.Ile233=) c.744T>C (p.Ile248=) c.741T>C (p.Ile247=) | |
4 | g.121854726A>T | CA440922779 | BBS7 | c.696T>A (p.Ile232=) c.699T>A (p.Ile233=) c.744T>A (p.Ile248=) c.741T>A (p.Ile247=) | |
4 | g.121854727A>C | CA358065695 | BBS7 | c.695T>G (p.Ile232Ser) c.698T>G (p.Ile233Ser) c.743T>G (p.Ile248Ser) c.740T>G (p.Ile247Ser) | |
4 | g.121854727A>G | CA358065702 | BBS7 | c.695T>C (p.Ile232Thr) c.698T>C (p.Ile233Thr) c.743T>C (p.Ile248Thr) c.740T>C (p.Ile247Thr) | |
4 | g.121854727A>T | CA358065705 | BBS7 | c.695T>A (p.Ile232Asn) c.698T>A (p.Ile233Asn) c.743T>A (p.Ile248Asn) c.740T>A (p.Ile247Asn) | |
4 | g.121854728T>A | CA358065709 | BBS7 | c.694A>T (p.Ile232Phe) c.697A>T (p.Ile233Phe) c.742A>T (p.Ile248Phe) c.739A>T (p.Ile247Phe) | |
4 | g.121854728T>C | CA358065711 | BBS7 | c.694A>G (p.Ile232Val) c.697A>G (p.Ile233Val) c.742A>G (p.Ile248Val) c.739A>G (p.Ile247Val) | |
4 | g.121854728T>G | CA358065713 | BBS7 | c.694A>C (p.Ile232Leu) c.697A>C (p.Ile233Leu) c.742A>C (p.Ile248Leu) c.739A>C (p.Ile247Leu) | |
4 | g.121854729T>A | CA358065716 | BBS7 | c.693A>T (p.Glu231Asp) c.696A>T (p.Glu232Asp) c.741A>T (p.Glu247Asp) c.738A>T (p.Glu246Asp) | |
4 | g.121854729T>C | CA440922780 | BBS7 | c.693A>G (p.Glu231=) c.696A>G (p.Glu232=) c.741A>G (p.Glu247=) c.738A>G (p.Glu246=) | |
4 | g.121854729T>G | CA358065720 | BBS7 | c.693A>C (p.Glu231Asp) c.696A>C (p.Glu232Asp) c.741A>C (p.Glu247Asp) c.738A>C (p.Glu246Asp) | |
4 | g.121854730T>A | CA358065734 | BBS7 | c.692A>T (p.Glu231Val) c.695A>T (p.Glu232Val) c.740A>T (p.Glu247Val) c.737A>T (p.Glu246Val) | |
4 | g.121854730T>C | CA358065730 | BBS7 | c.692A>G (p.Glu231Gly) c.695A>G (p.Glu232Gly) c.740A>G (p.Glu247Gly) c.737A>G (p.Glu246Gly) | COSMIC |
4 | g.121854730T>G | CA358065723 | BBS7 | c.692A>C (p.Glu231Ala) c.695A>C (p.Glu232Ala) c.740A>C (p.Glu247Ala) c.737A>C (p.Glu246Ala) | |
4 | g.121854731C>A | CA358065744 | BBS7 | c.691G>T (p.Glu231Ter) c.694G>T (p.Glu232Ter) c.739G>T (p.Glu247Ter) c.736G>T (p.Glu246Ter) | |
4 | g.121854731C>G | CA358065736 | BBS7 | c.691G>C (p.Glu231Gln) c.694G>C (p.Glu232Gln) c.739G>C (p.Glu247Gln) c.736G>C (p.Glu246Gln) | |
4 | g.121854731C>T | CA358065740 | BBS7 | c.691G>A (p.Glu231Lys) c.694G>A (p.Glu232Lys) c.739G>A (p.Glu247Lys) c.736G>A (p.Glu246Lys) | |
4 | g.121854732C>A | CA358065747 | BBS7 | c.690G>T (p.Trp230Cys) c.693G>T (p.Trp231Cys) c.738G>T (p.Trp246Cys) c.735G>T (p.Trp245Cys) | |
4 | g.121854732C= | CA1490025978 | BBS7 | c.690G= (p.Trp230=) c.693G= (p.Trp231=) c.738G= (p.Trp246=) c.735G= (p.Trp245=) | |
4 | g.121854732C>G | CA358065751 | BBS7 | c.690G>C (p.Trp230Cys) c.693G>C (p.Trp231Cys) c.738G>C (p.Trp246Cys) c.735G>C (p.Trp245Cys) | |
4 | g.121854732C>T | CA3064433 | BBS7 | c.690G>A (p.Trp230Ter) c.693G>A (p.Trp231Ter) c.738G>A (p.Trp246Ter) c.735G>A (p.Trp245Ter) | ClinVar dbSNP ExAC gnomAD v2 |
4 | g.121854733C>A | CA358065757 | BBS7 | c.689G>T (p.Trp230Leu) c.692G>T (p.Trp231Leu) c.737G>T (p.Trp246Leu) c.734G>T (p.Trp245Leu) | |
4 | g.121854733C>G | CA358065761 | BBS7 | c.689G>C (p.Trp230Ser) c.692G>C (p.Trp231Ser) c.737G>C (p.Trp246Ser) c.734G>C (p.Trp245Ser) | |
4 | g.121854733C>T | CA358065764 | BBS7 | c.689G>A (p.Trp230Ter) c.692G>A (p.Trp231Ter) c.737G>A (p.Trp246Ter) c.734G>A (p.Trp245Ter) | |
4 | g.121854734A= | CA1490025979 | BBS7 | c.688T= (p.Trp230=) c.691T= (p.Trp231=) c.736T= (p.Trp246=) c.733T= (p.Trp245=) | |
4 | g.121854734A>C | CA358065768 | BBS7 | c.688T>G (p.Trp230Gly) c.691T>G (p.Trp231Gly) c.736T>G (p.Trp246Gly) c.733T>G (p.Trp245Gly) | |
4 | g.121854734A>G | CA358065773 | BBS7 | c.688T>C (p.Trp230Arg) c.691T>C (p.Trp231Arg) c.736T>C (p.Trp246Arg) c.733T>C (p.Trp245Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.121854734A>T | CA358065777 | BBS7 | c.688T>A (p.Trp230Arg) c.691T>A (p.Trp231Arg) c.736T>A (p.Trp246Arg) c.733T>A (p.Trp245Arg) | |
4 | g.121854735C>A | CA358065780 | BBS7 | c.687G>T (p.Lys229Asn) c.690G>T (p.Lys230Asn) c.735G>T (p.Lys245Asn) c.732G>T (p.Lys244Asn) | |
4 | g.121854735C>G | CA358065782 | BBS7 | c.687G>C (p.Lys229Asn) c.690G>C (p.Lys230Asn) c.735G>C (p.Lys245Asn) c.732G>C (p.Lys244Asn) | |
4 | g.121854735C>T | CA440922781 | BBS7 | c.687G>A (p.Lys229=) c.690G>A (p.Lys230=) c.735G>A (p.Lys245=) c.732G>A (p.Lys244=) | |
4 | g.121854736T>A | CA358065795 | BBS7 | c.686A>T (p.Lys229Met) c.689A>T (p.Lys230Met) c.734A>T (p.Lys245Met) c.731A>T (p.Lys244Met) | |
4 | g.121854736T>C | CA358065787 | BBS7 | c.686A>G (p.Lys229Arg) c.689A>G (p.Lys230Arg) c.734A>G (p.Lys245Arg) c.731A>G (p.Lys244Arg) | |
4 | g.121854736T>G | CA358065789 | BBS7 | c.686A>C (p.Lys229Thr) c.689A>C (p.Lys230Thr) c.734A>C (p.Lys245Thr) c.731A>C (p.Lys244Thr) | |
4 | g.121854737T>A | CA358065799 | BBS7 | c.685A>T (p.Lys229Ter) c.688A>T (p.Lys230Ter) c.733A>T (p.Lys245Ter) c.730A>T (p.Lys244Ter) | |
4 | g.121854737T>C | CA358065802 | BBS7 | c.685A>G (p.Lys229Glu) c.688A>G (p.Lys230Glu) c.733A>G (p.Lys245Glu) c.730A>G (p.Lys244Glu) | |
4 | g.121854737T>G | CA358065805 | BBS7 | c.685A>C (p.Lys229Gln) c.688A>C (p.Lys230Gln) c.733A>C (p.Lys245Gln) c.730A>C (p.Lys244Gln) | |
4 | g.121854738G>A | CA440922782 | BBS7 | c.684C>T (p.Arg228=) c.687C>T (p.Arg229=) c.732C>T (p.Arg244=) c.729C>T (p.Arg243=) | |
4 | g.121854738G>C | CA440922783 | BBS7 | c.684C>G (p.Arg228=) c.687C>G (p.Arg229=) c.732C>G (p.Arg244=) c.729C>G (p.Arg243=) | |
4 | g.121854738G= | CA1490025980 | BBS7 | c.684C= (p.Arg228=) c.687C= (p.Arg229=) c.732C= (p.Arg244=) c.729C= (p.Arg243=) | |
4 | g.121854738G>T | CA440922784 | BBS7 | c.684C>A (p.Arg228=) c.687C>A (p.Arg229=) c.732C>A (p.Arg244=) c.729C>A (p.Arg243=) | dbSNP gnomAD v2 |
4 | g.121854739C>A | CA3064435 | BBS7 | c.683G>T (p.Arg228Leu) c.686G>T (p.Arg229Leu) c.731G>T (p.Arg244Leu) c.728G>T (p.Arg243Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.121854739C= | CA1490025981 | BBS7 | c.683G= (p.Arg228=) c.686G= (p.Arg229=) c.731G= (p.Arg244=) c.728G= (p.Arg243=) | |
4 | g.121854739C>G | CA358065813 | BBS7 | c.683G>C (p.Arg228Pro) c.686G>C (p.Arg229Pro) c.731G>C (p.Arg244Pro) c.728G>C (p.Arg243Pro) | |
4 | g.121854739C>T | CA3064434 | BBS7 | c.683G>A (p.Arg228His) c.686G>A (p.Arg229His) c.731G>A (p.Arg244His) c.728G>A (p.Arg243His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.121854740G>A | CA358065818 | BBS7 | c.682C>T (p.Arg228Cys) c.685C>T (p.Arg229Cys) c.730C>T (p.Arg244Cys) c.727C>T (p.Arg243Cys) | ClinVar dbSNP gnomAD v4 |
4 | g.121854740G>C | CA3064436 | BBS7 | c.682C>G (p.Arg228Gly) c.685C>G (p.Arg229Gly) c.730C>G (p.Arg244Gly) c.727C>G (p.Arg243Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.121854740G= | CA1490025982 | BBS7 | c.682C= (p.Arg228=) c.685C= (p.Arg229=) c.730C= (p.Arg244=) c.727C= (p.Arg243=) | |
4 | g.121854740G>T | CA358065821 | BBS7 | c.682C>A (p.Arg228Ser) c.685C>A (p.Arg229Ser) c.730C>A (p.Arg244Ser) c.727C>A (p.Arg243Ser) | |
4 | g.121854741T>A | CA440922785 | BBS7 | c.681A>T (p.Val227=) c.684A>T (p.Val228=) c.729A>T (p.Val243=) c.726A>T (p.Val242=) | |
4 | g.121854741T>C | CA440922786 | BBS7 | c.681A>G (p.Val227=) c.684A>G (p.Val228=) c.729A>G (p.Val243=) c.726A>G (p.Val242=) | |
4 | g.121854741T>G | CA440922787 | BBS7 | c.681A>C (p.Val227=) c.684A>C (p.Val228=) c.729A>C (p.Val243=) c.726A>C (p.Val242=) | |
4 | g.121854742A= | CA1490025983 | BBS7 | c.680T= (p.Val227=) c.683T= (p.Val228=) c.728T= (p.Val243=) c.725T= (p.Val242=) | |
4 | g.121854742A>C | CA358065825 | BBS7 | c.680T>G (p.Val227Gly) c.683T>G (p.Val228Gly) c.728T>G (p.Val243Gly) c.725T>G (p.Val242Gly) | |
4 | g.121854742A>G | CA358065827 | BBS7 | c.680T>C (p.Val227Ala) c.683T>C (p.Val228Ala) c.728T>C (p.Val243Ala) c.725T>C (p.Val242Ala) | dbSNP |
4 | g.121854742A>T | CA358065829 | BBS7 | c.680T>A (p.Val227Glu) c.683T>A (p.Val228Glu) c.728T>A (p.Val243Glu) c.725T>A (p.Val242Glu) | |
4 | g.121854743C>A | CA358065837 | BBS7 | c.679G>T (p.Val227Leu) c.682G>T (p.Val228Leu) c.727G>T (p.Val243Leu) c.724G>T (p.Val242Leu) | |
4 | g.121854743C>G | CA358065846 | BBS7 | c.679G>C (p.Val227Leu) c.682G>C (p.Val228Leu) c.727G>C (p.Val243Leu) c.724G>C (p.Val242Leu) | |
4 | g.121854743C>T | CA358065836 | BBS7 | c.679G>A (p.Val227Ile) c.682G>A (p.Val228Ile) c.727G>A (p.Val243Ile) c.724G>A (p.Val242Ile) | |
4 | g.121854744T>A | CA440922788 | BBS7 | c.678A>T (p.Pro226=) c.681A>T (p.Pro227=) c.726A>T (p.Pro242=) c.723A>T (p.Pro241=) | |
4 | g.121854744T>C | CA440922789 | BBS7 | c.678A>G (p.Pro226=) c.681A>G (p.Pro227=) c.726A>G (p.Pro242=) c.723A>G (p.Pro241=) | |
4 | g.121854744T>G | CA440922790 | BBS7 | c.678A>C (p.Pro226=) c.681A>C (p.Pro227=) c.726A>C (p.Pro242=) c.723A>C (p.Pro241=) | |
4 | g.121854745G>A | CA358065853 | BBS7 | c.677C>T (p.Pro226Leu) c.680C>T (p.Pro227Leu) c.725C>T (p.Pro242Leu) c.722C>T (p.Pro241Leu) | gnomAD v4 |
4 | g.121854745G>C | CA358065855 | BBS7 | c.677C>G (p.Pro226Arg) c.680C>G (p.Pro227Arg) c.725C>G (p.Pro242Arg) c.722C>G (p.Pro241Arg) | |
4 | g.121854745G>T | CA358065861 | BBS7 | c.677C>A (p.Pro226Gln) c.680C>A (p.Pro227Gln) c.725C>A (p.Pro242Gln) c.722C>A (p.Pro241Gln) | |
4 | g.121854746G>A | CA358065864 | BBS7 | c.676C>T (p.Pro226Ser) c.679C>T (p.Pro227Ser) c.724C>T (p.Pro242Ser) c.721C>T (p.Pro241Ser) | |
4 | g.121854746G>C | CA358065866 | BBS7 | c.676C>G (p.Pro226Ala) c.679C>G (p.Pro227Ala) c.724C>G (p.Pro242Ala) c.721C>G (p.Pro241Ala) | dbSNP |
4 | g.121854746G= | CA1490025984 | BBS7 | c.676C= (p.Pro226=) c.679C= (p.Pro227=) c.724C= (p.Pro242=) c.721C= (p.Pro241=) | |
4 | g.121854746G>T | CA358065869 | BBS7 | c.676C>A (p.Pro226Thr) c.679C>A (p.Pro227Thr) c.724C>A (p.Pro242Thr) c.721C>A (p.Pro241Thr) | |
4 | g.121854747T>A | CA358065873 | BBS7 | c.675A>T (p.Lys225Asn) c.678A>T (p.Lys226Asn) c.723A>T (p.Lys241Asn) c.720A>T (p.Lys240Asn) | |
4 | g.121854747T>C | CA440922791 | BBS7 | c.675A>G (p.Lys225=) c.678A>G (p.Lys226=) c.723A>G (p.Lys241=) c.720A>G (p.Lys240=) | |
4 | g.121854747T>G | CA358065871 | BBS7 | c.675A>C (p.Lys225Asn) c.678A>C (p.Lys226Asn) c.723A>C (p.Lys241Asn) c.720A>C (p.Lys240Asn) | |
4 | g.121854748T>A | CA358065876 | BBS7 | c.674A>T (p.Lys225Ile) c.677A>T (p.Lys226Ile) c.722A>T (p.Lys241Ile) c.719A>T (p.Lys240Ile) | |
4 | g.121854748T>C | CA358065877 | BBS7 | c.674A>G (p.Lys225Arg) c.677A>G (p.Lys226Arg) c.722A>G (p.Lys241Arg) c.719A>G (p.Lys240Arg) | |
4 | g.121854748T>G | CA358065880 | BBS7 | c.674A>C (p.Lys225Thr) c.677A>C (p.Lys226Thr) c.722A>C (p.Lys241Thr) c.719A>C (p.Lys240Thr) | |
4 | g.121854749T>A | CA358065882 | BBS7 | c.673A>T (p.Lys225Ter) c.676A>T (p.Lys226Ter) c.721A>T (p.Lys241Ter) c.718A>T (p.Lys240Ter) | |
4 | g.121854749T>C | CA104766682 | BBS7 | c.673A>G (p.Lys225Glu) c.676A>G (p.Lys226Glu) c.721A>G (p.Lys241Glu) c.718A>G (p.Lys240Glu) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.121854749T>G | CA358065885 | BBS7 | c.673A>C (p.Lys225Gln) c.676A>C (p.Lys226Gln) c.721A>C (p.Lys241Gln) c.718A>C (p.Lys240Gln) | |
4 | g.121854749T= | CA1490025985 | BBS7 | c.673A= (p.Lys225=) c.676A= (p.Lys226=) c.721A= (p.Lys241=) c.718A= (p.Lys240=) | |
4 | g.121854750G>A | CA440922792 | BBS7 | c.672C>T (p.Ser224=) c.675C>T (p.Ser225=) c.720C>T (p.Ser240=) c.717C>T (p.Ser239=) | |
4 | g.121854750G>C | CA440922794 | BBS7 | c.672C>G (p.Ser224=) c.675C>G (p.Ser225=) c.720C>G (p.Ser240=) c.717C>G (p.Ser239=) | |
4 | g.121854750G>T | CA440922793 | BBS7 | c.672C>A (p.Ser224=) c.675C>A (p.Ser225=) c.720C>A (p.Ser240=) c.717C>A (p.Ser239=) | |
4 | g.121854751G>A | CA358065892 | BBS7 | c.671C>T (p.Ser224Phe) c.674C>T (p.Ser225Phe) c.719C>T (p.Ser240Phe) c.716C>T (p.Ser239Phe) | |
4 | g.121854751G>C | CA358065888 | BBS7 | c.671C>G (p.Ser224Cys) c.674C>G (p.Ser225Cys) c.719C>G (p.Ser240Cys) c.716C>G (p.Ser239Cys) | |
4 | g.121854751G>T | CA358065891 | BBS7 | c.671C>A (p.Ser224Tyr) c.674C>A (p.Ser225Tyr) c.719C>A (p.Ser240Tyr) c.716C>A (p.Ser239Tyr) | |
4 | g.121854752A>C | CA358065895 | BBS7 | c.670T>G (p.Ser224Ala) c.673T>G (p.Ser225Ala) c.718T>G (p.Ser240Ala) c.715T>G (p.Ser239Ala) | |
4 | g.121854752A>G | CA358065898 | BBS7 | c.670T>C (p.Ser224Pro) c.673T>C (p.Ser225Pro) c.718T>C (p.Ser240Pro) c.715T>C (p.Ser239Pro) | |
4 | g.121854752A>T | CA358065899 | BBS7 | c.670T>A (p.Ser224Thr) c.673T>A (p.Ser225Thr) c.718T>A (p.Ser240Thr) c.715T>A (p.Ser239Thr) | |
4 | g.121854753T>A | CA440922795 | BBS7 | c.669A>T (p.Thr223=) c.672A>T (p.Thr224=) c.717A>T (p.Thr239=) c.714A>T (p.Thr238=) | |
4 | g.121854753T>C | CA440922796 | BBS7 | c.669A>G (p.Thr223=) c.672A>G (p.Thr224=) c.717A>G (p.Thr239=) c.714A>G (p.Thr238=) | gnomAD v4 |
4 | g.121854753T>G | CA440922797 | BBS7 | c.669A>C (p.Thr223=) c.672A>C (p.Thr224=) c.717A>C (p.Thr239=) c.714A>C (p.Thr238=) | |
4 | g.121854754G>A | CA358065904 | BBS7 | c.668C>T (p.Thr223Ile) c.671C>T (p.Thr224Ile) c.716C>T (p.Thr239Ile) c.713C>T (p.Thr238Ile) | |
4 | g.121854754G>C | CA358065906 | BBS7 | c.668C>G (p.Thr223Arg) c.671C>G (p.Thr224Arg) c.716C>G (p.Thr239Arg) c.713C>G (p.Thr238Arg) | |
4 | g.121854754G>T | CA358065908 | BBS7 | c.668C>A (p.Thr223Lys) c.671C>A (p.Thr224Lys) c.716C>A (p.Thr239Lys) c.713C>A (p.Thr238Lys) | |
4 | g.121854755T>A | CA358065912 | BBS7 | c.667A>T (p.Thr223Ser) c.670A>T (p.Thr224Ser) c.715A>T (p.Thr239Ser) c.712A>T (p.Thr238Ser) | |
4 | g.121854755T>C | CA358065914 | BBS7 | c.667A>G (p.Thr223Ala) c.670A>G (p.Thr224Ala) c.715A>G (p.Thr239Ala) c.712A>G (p.Thr238Ala) | dbSNP |
4 | g.121854755T>G | CA358065917 | BBS7 | c.667A>C (p.Thr223Pro) c.670A>C (p.Thr224Pro) c.715A>C (p.Thr239Pro) c.712A>C (p.Thr238Pro) | |
4 | g.121854755T= | CA1490025986 | BBS7 | c.667A= (p.Thr223=) c.670A= (p.Thr224=) c.715A= (p.Thr239=) c.712A= (p.Thr238=) | |
4 | g.121854756A>C | CA440922798 | BBS7 | c.666T>G (p.Thr222=) c.669T>G (p.Thr223=) c.714T>G (p.Thr238=) c.711T>G (p.Thr237=) | |
4 | g.121854756A>G | CA440922799 | BBS7 | c.666T>C (p.Thr222=) c.669T>C (p.Thr223=) c.714T>C (p.Thr238=) c.711T>C (p.Thr237=) | ClinVar |
4 | g.121854756A>T | CA440922800 | BBS7 | c.666T>A (p.Thr222=) c.669T>A (p.Thr223=) c.714T>A (p.Thr238=) c.711T>A (p.Thr237=) | |
4 | g.121854757G>A | CA358065918 | BBS7 | c.665C>T (p.Thr222Ile) c.668C>T (p.Thr223Ile) c.713C>T (p.Thr238Ile) c.710C>T (p.Thr237Ile) | |
4 | g.121854757G>C | CA358065919 | BBS7 | c.665C>G (p.Thr222Ser) c.668C>G (p.Thr223Ser) c.713C>G (p.Thr238Ser) c.710C>G (p.Thr237Ser) | gnomAD v4 |
4 | g.121854757G>T | CA358065921 | BBS7 | c.665C>A (p.Thr222Asn) c.668C>A (p.Thr223Asn) c.713C>A (p.Thr238Asn) c.710C>A (p.Thr237Asn) | |
4 | g.121854758T>A | CA358065924 | BBS7 | c.664A>T (p.Thr222Ser) c.667A>T (p.Thr223Ser) c.712A>T (p.Thr238Ser) c.709A>T (p.Thr237Ser) | |
4 | g.121854758T>C | CA3064437 | BBS7 | c.664A>G (p.Thr222Ala) c.667A>G (p.Thr223Ala) c.712A>G (p.Thr238Ala) c.709A>G (p.Thr237Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.121854758T>G | CA358065927 | BBS7 | c.664A>C (p.Thr222Pro) c.667A>C (p.Thr223Pro) c.712A>C (p.Thr238Pro) c.709A>C (p.Thr237Pro) | |
4 | g.121854758T= | CA1490025987 | BBS7 | c.664A= (p.Thr222=) c.667A= (p.Thr223=) c.712A= (p.Thr238=) c.709A= (p.Thr237=) | |
4 | g.121854759A>C | CA358065930 | BBS7 | c.663T>G (p.Ile221Met) c.666T>G (p.Ile222Met) c.711T>G (p.Ile237Met) c.708T>G (p.Ile236Met) | |
4 | g.121854759A>G | CA440922801 | BBS7 | c.663T>C (p.Ile221=) c.666T>C (p.Ile222=) c.711T>C (p.Ile237=) c.708T>C (p.Ile236=) | |
4 | g.121854759A>T | CA440922802 | BBS7 | c.663T>A (p.Ile221=) c.666T>A (p.Ile222=) c.711T>A (p.Ile237=) c.708T>A (p.Ile236=) | |
4 | g.121854760A>C | CA358065932 | BBS7 | c.662T>G (p.Ile221Ser) c.665T>G (p.Ile222Ser) c.710T>G (p.Ile237Ser) c.707T>G (p.Ile236Ser) | |
4 | g.121854760A>G | CA358065935 | BBS7 | c.662T>C (p.Ile221Thr) c.665T>C (p.Ile222Thr) c.710T>C (p.Ile237Thr) c.707T>C (p.Ile236Thr) | |
4 | g.121854760A>T | CA358065937 | BBS7 | c.662T>A (p.Ile221Asn) c.665T>A (p.Ile222Asn) c.710T>A (p.Ile237Asn) c.707T>A (p.Ile236Asn) | |
4 | g.121854761T>A | CA3064438 | BBS7 | c.661A>T (p.Ile221Phe) c.664A>T (p.Ile222Phe) c.709A>T (p.Ile237Phe) c.706A>T (p.Ile236Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.121854761T>C | CA3064439 | BBS7 | c.661A>G (p.Ile221Val) c.664A>G (p.Ile222Val) c.709A>G (p.Ile237Val) c.706A>G (p.Ile236Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.121854761T>G | CA358065948 | BBS7 | c.661A>C (p.Ile221Leu) c.664A>C (p.Ile222Leu) c.709A>C (p.Ile237Leu) c.706A>C (p.Ile236Leu) | |
4 | g.121854761T= | CA1490025988 | BBS7 | c.661A= (p.Ile221=) c.664A= (p.Ile222=) c.709A= (p.Ile237=) c.706A= (p.Ile236=) | |
4 | g.121854762C>A | CA358065949 | BBS7 | c.660G>T (p.Gln220His) c.663G>T (p.Gln221His) c.708G>T (p.Gln236His) c.705G>T (p.Gln235His) | |
4 | g.121854762C>G | CA358065951 | BBS7 | c.660G>C (p.Gln220His) c.663G>C (p.Gln221His) c.708G>C (p.Gln236His) c.705G>C (p.Gln235His) | |
4 | g.121854762C>T | CA440922803 | BBS7 | c.660G>A (p.Gln220=) c.663G>A (p.Gln221=) c.708G>A (p.Gln236=) c.705G>A (p.Gln235=) | |
4 | g.121854763T>A | CA358065952 | BBS7 | c.659A>T (p.Gln220Leu) c.662A>T (p.Gln221Leu) c.707A>T (p.Gln236Leu) c.704A>T (p.Gln235Leu) | gnomAD v4 |
4 | g.121854763T>C | CA358065953 | BBS7 | c.659A>G (p.Gln220Arg) c.662A>G (p.Gln221Arg) c.707A>G (p.Gln236Arg) c.704A>G (p.Gln235Arg) | |
4 | g.121854763T>G | CA358065954 | BBS7 | c.659A>C (p.Gln220Pro) c.662A>C (p.Gln221Pro) c.707A>C (p.Gln236Pro) c.704A>C (p.Gln235Pro) | |
4 | g.121854764G>A | CA358065956 | BBS7 | c.658C>T (p.Gln220Ter) c.661C>T (p.Gln221Ter) c.706C>T (p.Gln236Ter) c.703C>T (p.Gln235Ter) | |
4 | g.121854764G>C | CA358065955 | BBS7 | c.658C>G (p.Gln220Glu) c.661C>G (p.Gln221Glu) c.706C>G (p.Gln236Glu) c.703C>G (p.Gln235Glu) | |
4 | g.121854764G= | CA1490025989 | BBS7 | c.658C= (p.Gln220=) c.661C= (p.Gln221=) c.706C= (p.Gln236=) c.703C= (p.Gln235=) | |
4 | g.121854764G>T | CA104766693 | BBS7 | c.658C>A (p.Gln220Lys) c.661C>A (p.Gln221Lys) c.706C>A (p.Gln236Lys) c.703C>A (p.Gln235Lys) | dbSNP |
4 | g.121854765T>A | CA440922804 | BBS7 | c.657A>T (p.Ile219=) c.660A>T (p.Ile220=) c.705A>T (p.Ile235=) c.702A>T (p.Ile234=) | |
4 | g.121854765T>C | CA358065958 | BBS7 | c.657A>G (p.Ile219Met) c.660A>G (p.Ile220Met) c.705A>G (p.Ile235Met) c.702A>G (p.Ile234Met) | gnomAD v4 |
4 | g.121854765T>G | CA440922805 | BBS7 | c.657A>C (p.Ile219=) c.660A>C (p.Ile220=) c.705A>C (p.Ile235=) c.702A>C (p.Ile234=) | |
4 | g.121854766A= | CA1490025990 | BBS7 | c.656T= (p.Ile219=) c.659T= (p.Ile220=) c.704T= (p.Ile235=) c.701T= (p.Ile234=) | |
4 | g.121854766A>C | CA358065960 | BBS7 | c.656T>G (p.Ile219Arg) c.659T>G (p.Ile220Arg) c.704T>G (p.Ile235Arg) c.701T>G (p.Ile234Arg) | |
4 | g.121854766A>G | CA358065963 | BBS7 | c.656T>C (p.Ile219Thr) c.659T>C (p.Ile220Thr) c.704T>C (p.Ile235Thr) c.701T>C (p.Ile234Thr) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.121854766A>T | CA358065965 | BBS7 | c.656T>A (p.Ile219Lys) c.659T>A (p.Ile220Lys) c.704T>A (p.Ile235Lys) c.701T>A (p.Ile234Lys) | |
4 | g.121854767T>A | CA358065968 | BBS7 | c.655A>T (p.Ile219Leu) c.658A>T (p.Ile220Leu) c.703A>T (p.Ile235Leu) c.700A>T (p.Ile234Leu) | |
4 | g.121854767T>C | CA358065971 | BBS7 | c.655A>G (p.Ile219Val) c.658A>G (p.Ile220Val) c.703A>G (p.Ile235Val) c.700A>G (p.Ile234Val) | ClinVar dbSNP |
4 | g.121854767T>G | CA358065973 | BBS7 | c.655A>C (p.Ile219Leu) c.658A>C (p.Ile220Leu) c.703A>C (p.Ile235Leu) c.700A>C (p.Ile234Leu) | |
4 | g.121854767dup | CA554188416 | BBS7 | c.655dup (p.Ile219AsnfsTer17) c.658dup (p.Ile220AsnfsTer17) c.703dup (p.Ile235AsnfsTer17) c.700dup (p.Ile234AsnfsTer17) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.121854768A= | CA1490025991 | BBS7 | c.654T= (p.Leu218=) c.657T= (p.Leu219=) c.702T= (p.Leu234=) c.699T= (p.Leu233=) | |
4 | g.121854768A>C | CA440922806 | BBS7 | c.654T>G (p.Leu218=) c.657T>G (p.Leu219=) c.702T>G (p.Leu234=) c.699T>G (p.Leu233=) | |
4 | g.121854768A>G | CA3064440 | BBS7 | c.654T>C (p.Leu218=) c.657T>C (p.Leu219=) c.702T>C (p.Leu234=) c.699T>C (p.Leu233=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.121854768A>T | CA440922807 | BBS7 | c.654T>A (p.Leu218=) c.657T>A (p.Leu219=) c.702T>A (p.Leu234=) c.699T>A (p.Leu233=) | |
4 | g.121854769A= | CA1490025992 | BBS7 | c.653T= (p.Leu218=) c.656T= (p.Leu219=) c.701T= (p.Leu234=) c.698T= (p.Leu233=) | |
4 | g.121854769A>C | CA3064441 | BBS7 | c.653T>G (p.Leu218Arg) c.656T>G (p.Leu219Arg) c.701T>G (p.Leu234Arg) c.698T>G (p.Leu233Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.121854769A>G | CA358065979 | BBS7 | c.653T>C (p.Leu218Pro) c.656T>C (p.Leu219Pro) c.701T>C (p.Leu234Pro) c.698T>C (p.Leu233Pro) | |
4 | g.121854769A>T | CA358065982 | BBS7 | c.653T>A (p.Leu218His) c.656T>A (p.Leu219His) c.701T>A (p.Leu234His) c.698T>A (p.Leu233His) | |
4 | g.121854770G>A | CA358065984 | BBS7 | c.652C>T (p.Leu218Phe) c.655C>T (p.Leu219Phe) c.700C>T (p.Leu234Phe) c.697C>T (p.Leu233Phe) | gnomAD v4 |
4 | g.121854770G>C | CA358065988 | BBS7 | c.652C>G (p.Leu218Val) c.655C>G (p.Leu219Val) c.700C>G (p.Leu234Val) c.697C>G (p.Leu233Val) | |
4 | g.121854770G>T | CA358065983 | BBS7 | c.652C>A (p.Leu218Ile) c.655C>A (p.Leu219Ile) c.700C>A (p.Leu234Ile) c.697C>A (p.Leu233Ile) | |
4 | g.121854771C>A | CA440922808 | BBS7 | c.651G>T (p.Ala217=) c.654G>T (p.Ala218=) c.699G>T (p.Ala233=) c.696G>T (p.Ala232=) | |
4 | g.121854771C= | CA1490025993 | BBS7 | c.651G= (p.Ala217=) c.654G= (p.Ala218=) c.699G= (p.Ala233=) c.696G= (p.Ala232=) | |
4 | g.121854771C>G | CA440922809 | BBS7 | c.651G>C (p.Ala217=) c.654G>C (p.Ala218=) c.699G>C (p.Ala233=) c.696G>C (p.Ala232=) | |
4 | g.121854771C>T | CA3064442 | BBS7 | c.651G>A (p.Ala217=) c.654G>A (p.Ala218=) c.699G>A (p.Ala233=) c.696G>A (p.Ala232=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.121854772G>A | CA3064443 | BBS7 | c.650C>T (p.Ala217Val) c.653C>T (p.Ala218Val) c.698C>T (p.Ala233Val) c.695C>T (p.Ala232Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.121854772G>C | CA358065996 | BBS7 | c.650C>G (p.Ala217Gly) c.653C>G (p.Ala218Gly) c.698C>G (p.Ala233Gly) c.695C>G (p.Ala232Gly) | dbSNP gnomAD v2 |
4 | g.121854772G= | CA1490025994 | BBS7 | c.650C= (p.Ala217=) c.653C= (p.Ala218=) c.698C= (p.Ala233=) c.695C= (p.Ala232=) | |
4 | g.121854772G>T | CA3064444 | BBS7 | c.650C>A (p.Ala217Glu) c.653C>A (p.Ala218Glu) c.698C>A (p.Ala233Glu) c.695C>A (p.Ala232Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.121854773C>A | CA358065999 | BBS7 | c.649G>T (p.Ala217Ser) c.652G>T (p.Ala218Ser) c.697G>T (p.Ala233Ser) c.694G>T (p.Ala232Ser) | |
4 | g.121854773C>G | CA358066003 | BBS7 | c.649G>C (p.Ala217Pro) c.652G>C (p.Ala218Pro) c.697G>C (p.Ala233Pro) c.694G>C (p.Ala232Pro) | |
4 | g.121854773C>T | CA358066006 | BBS7 | c.649G>A (p.Ala217Thr) c.652G>A (p.Ala218Thr) c.697G>A (p.Ala233Thr) c.694G>A (p.Ala232Thr) | |
4 | g.121854773dup | CA10607037 | BBS7 | c.649dup (p.Ala217GlyfsTer19) c.652dup (p.Ala218GlyfsTer19) c.697dup (p.Ala233GlyfsTer19) c.694dup (p.Ala232GlyfsTer19) | ClinVar dbSNP gnomAD v4 |
4 | g.121854774A>C | CA440922810 | BBS7 | c.648T>G (p.Leu216=) c.651T>G (p.Leu217=) c.696T>G (p.Leu232=) c.693T>G (p.Leu231=) | |
4 | g.121854774A>G | CA440922811 | BBS7 | c.648T>C (p.Leu216=) c.651T>C (p.Leu217=) c.696T>C (p.Leu232=) c.693T>C (p.Leu231=) | |
4 | g.121854774A>T | CA440922812 | BBS7 | c.648T>A (p.Leu216=) c.651T>A (p.Leu217=) c.696T>A (p.Leu232=) c.693T>A (p.Leu231=) | |
4 | g.121854775A>C | CA358066008 | BBS7 | c.647T>G (p.Leu216Arg) c.650T>G (p.Leu217Arg) c.695T>G (p.Leu232Arg) c.692T>G (p.Leu231Arg) | COSMIC |
4 | g.121854775A>G | CA358066010 | BBS7 | c.647T>C (p.Leu216Pro) c.650T>C (p.Leu217Pro) c.695T>C (p.Leu232Pro) c.692T>C (p.Leu231Pro) | |
4 | g.121854775A>T | CA358066012 | BBS7 | c.647T>A (p.Leu216His) c.650T>A (p.Leu217His) c.695T>A (p.Leu232His) c.692T>A (p.Leu231His) | |
4 | g.121854776G>A | CA358066015 | BBS7 | c.646C>T (p.Leu216Phe) c.649C>T (p.Leu217Phe) c.694C>T (p.Leu232Phe) c.691C>T (p.Leu231Phe) | |
4 | g.121854776G>C | CA358066023 | BBS7 | c.646C>G (p.Leu216Val) c.649C>G (p.Leu217Val) c.694C>G (p.Leu232Val) c.691C>G (p.Leu231Val) | |
4 | g.121854776G>T | CA358066026 | BBS7 | c.646C>A (p.Leu216Ile) c.649C>A (p.Leu217Ile) c.694C>A (p.Leu232Ile) c.691C>A (p.Leu231Ile) | |
4 | g.121854777T>A | CA358066028 | BBS7 | c.645A>T (p.Lys215Asn) c.648A>T (p.Lys216Asn) c.693A>T (p.Lys231Asn) c.690A>T (p.Lys230Asn) | |
4 | g.121854777T>C | CA440922813 | BBS7 | c.645A>G (p.Lys215=) c.648A>G (p.Lys216=) c.693A>G (p.Lys231=) c.690A>G (p.Lys230=) | |
4 | g.121854777T>G | CA358066031 | BBS7 | c.645A>C (p.Lys215Asn) c.648A>C (p.Lys216Asn) c.693A>C (p.Lys231Asn) c.690A>C (p.Lys230Asn) | |
4 | g.121854778T>A | CA358066036 | BBS7 | c.644A>T (p.Lys215Ile) c.647A>T (p.Lys216Ile) c.692A>T (p.Lys231Ile) c.689A>T (p.Lys230Ile) | |
4 | g.121854778T>C | CA358066035 | BBS7 | c.644A>G (p.Lys215Arg) c.647A>G (p.Lys216Arg) c.692A>G (p.Lys231Arg) c.689A>G (p.Lys230Arg) | gnomAD v4 |
4 | g.121854778T>G | CA3064445 | BBS7 | c.644A>C (p.Lys215Thr) c.647A>C (p.Lys216Thr) c.692A>C (p.Lys231Thr) c.689A>C (p.Lys230Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.121854778T= | CA1490025995 | BBS7 | c.644A= (p.Lys215=) c.647A= (p.Lys216=) c.692A= (p.Lys231=) c.689A= (p.Lys230=) | |
4 | g.121854779T>A | CA358066039 | BBS7 | c.643A>T (p.Lys215Ter) c.646A>T (p.Lys216Ter) c.691A>T (p.Lys231Ter) c.688A>T (p.Lys230Ter) | |
4 | g.121854779T>C | CA358066042 | BBS7 | c.643A>G (p.Lys215Glu) c.646A>G (p.Lys216Glu) c.691A>G (p.Lys231Glu) c.688A>G (p.Lys230Glu) | |
4 | g.121854779T>G | CA358066044 | BBS7 | c.643A>C (p.Lys215Gln) c.646A>C (p.Lys216Gln) c.691A>C (p.Lys231Gln) c.688A>C (p.Lys230Gln) | |
4 | g.121854780T>A | CA440922814 | BBS7 | c.642A>T (p.Gly214=) c.645A>T (p.Gly215=) c.690A>T (p.Gly230=) c.687A>T (p.Gly229=) | |
4 | g.121854780T>C | CA440922815 | BBS7 | c.642A>G (p.Gly214=) c.645A>G (p.Gly215=) c.690A>G (p.Gly230=) c.687A>G (p.Gly229=) | |
4 | g.121854780T>G | CA440922816 | BBS7 | c.642A>C (p.Gly214=) c.645A>C (p.Gly215=) c.690A>C (p.Gly230=) c.687A>C (p.Gly229=) | |
4 | g.121854781C>A | CA358066046 | BBS7 | c.641G>T (p.Gly214Val) c.644G>T (p.Gly215Val) c.689G>T (p.Gly230Val) c.686G>T (p.Gly229Val) | |
4 | g.121854781C>G | CA358066050 | BBS7 | c.641G>C (p.Gly214Ala) c.644G>C (p.Gly215Ala) c.689G>C (p.Gly230Ala) c.686G>C (p.Gly229Ala) | |
4 | g.121854781C>T | CA358066053 | BBS7 | c.641G>A (p.Gly214Glu) c.644G>A (p.Gly215Glu) c.689G>A (p.Gly230Glu) c.686G>A (p.Gly229Glu) | |
4 | g.121854782C>A | CA358066056 | BBS7 | c.640G>T (p.Gly214Ter) c.643G>T (p.Gly215Ter) c.688G>T (p.Gly230Ter) c.685G>T (p.Gly229Ter) | |
4 | g.121854782C= | CA1490025996 | BBS7 | c.640G= (p.Gly214=) c.643G= (p.Gly215=) c.688G= (p.Gly230=) c.685G= (p.Gly229=) | |
4 | g.121854782C>G | CA358066059 | BBS7 | c.640G>C (p.Gly214Arg) c.643G>C (p.Gly215Arg) c.688G>C (p.Gly230Arg) c.685G>C (p.Gly229Arg) | ClinVar |
4 | g.121854782C>T | CA358066067 | BBS7 | c.640G>A (p.Gly214Arg) c.643G>A (p.Gly215Arg) c.688G>A (p.Gly230Arg) c.685G>A (p.Gly229Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.121854783G>A | CA3064446 | BBS7 | c.639C>T (p.Asp213=) c.642C>T (p.Asp214=) c.687C>T (p.Asp229=) c.684C>T (p.Asp228=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.121854783G>C | CA358066074 | BBS7 | c.639C>G (p.Asp213Glu) c.642C>G (p.Asp214Glu) c.687C>G (p.Asp229Glu) c.684C>G (p.Asp228Glu) | |
4 | g.121854783G= | CA1490025997 | BBS7 | c.639C= (p.Asp213=) c.642C= (p.Asp214=) c.687C= (p.Asp229=) c.684C= (p.Asp228=) | |
4 | g.121854783G>T | CA358066077 | BBS7 | c.639C>A (p.Asp213Glu) c.642C>A (p.Asp214Glu) c.687C>A (p.Asp229Glu) c.684C>A (p.Asp228Glu) | |
4 | g.121854784T>A | CA358066088 | BBS7 | c.638A>T (p.Asp213Val) c.641A>T (p.Asp214Val) c.686A>T (p.Asp229Val) c.683A>T (p.Asp228Val) | |
4 | g.121854784T>C | CA358066086 | BBS7 | c.638A>G (p.Asp213Gly) c.641A>G (p.Asp214Gly) c.686A>G (p.Asp229Gly) c.683A>G (p.Asp228Gly) | gnomAD v4 |
4 | g.121854784T>G | CA358066085 | BBS7 | c.638A>C (p.Asp213Ala) c.641A>C (p.Asp214Ala) c.686A>C (p.Asp229Ala) c.683A>C (p.Asp228Ala) | |
4 | g.121854785C>A | CA358066090 | BBS7 | c.637G>T (p.Asp213Tyr) c.640G>T (p.Asp214Tyr) c.685G>T (p.Asp229Tyr) c.682G>T (p.Asp228Tyr) | |
4 | g.121854785C>G | CA358066093 | BBS7 | c.637G>C (p.Asp213His) c.640G>C (p.Asp214His) c.685G>C (p.Asp229His) c.682G>C (p.Asp228His) | |
4 | g.121854785C>T | CA358066096 | BBS7 | c.637G>A (p.Asp213Asn) c.640G>A (p.Asp214Asn) c.685G>A (p.Asp229Asn) c.682G>A (p.Asp228Asn) | gnomAD v4 |
4 | g.121854786T>A | CA440922817 | BBS7 | c.636A>T (p.Ser212=) c.639A>T (p.Ser213=) c.684A>T (p.Ser228=) c.681A>T (p.Ser227=) | gnomAD v4 |
4 | g.121854786T>C | CA440922818 | BBS7 | c.636A>G (p.Ser212=) c.639A>G (p.Ser213=) c.684A>G (p.Ser228=) c.681A>G (p.Ser227=) | |
4 | g.121854786T>G | CA440922819 | BBS7 | c.636A>C (p.Ser212=) c.639A>C (p.Ser213=) c.684A>C (p.Ser228=) c.681A>C (p.Ser227=) | |
4 | g.121854787G>A | CA358066099 | BBS7 | c.635C>T (p.Ser212Leu) c.638C>T (p.Ser213Leu) c.683C>T (p.Ser228Leu) c.680C>T (p.Ser227Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.121854787G>C | CA3064447 | BBS7 | c.635C>G (p.Ser212Ter) c.638C>G (p.Ser213Ter) c.683C>G (p.Ser228Ter) c.680C>G (p.Ser227Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.121854787G= | CA1490025998 | BBS7 | c.635C= (p.Ser212=) c.638C= (p.Ser213=) c.683C= (p.Ser228=) c.680C= (p.Ser227=) | |
4 | g.121854787G>T | CA358066103 | BBS7 | c.635C>A (p.Ser212Ter) c.638C>A (p.Ser213Ter) c.683C>A (p.Ser228Ter) c.680C>A (p.Ser227Ter) | |
4 | g.121854788A>C | CA358066106 | BBS7 | c.634T>G (p.Ser212Ala) c.637T>G (p.Ser213Ala) c.682T>G (p.Ser228Ala) c.679T>G (p.Ser227Ala) | |
4 | g.121854788A>G | CA358066109 | BBS7 | c.634T>C (p.Ser212Pro) c.637T>C (p.Ser213Pro) c.682T>C (p.Ser228Pro) c.679T>C (p.Ser227Pro) | |
4 | g.121854788A>T | CA358066112 | BBS7 | c.634T>A (p.Ser212Thr) c.637T>A (p.Ser213Thr) c.682T>A (p.Ser228Thr) c.679T>A (p.Ser227Thr) | |
4 | g.121854789T>A | CA440922820 | BBS7 | c.633A>T (p.Thr211=) c.636A>T (p.Thr212=) c.681A>T (p.Thr227=) c.678A>T (p.Thr226=) | |
4 | g.121854789T>C | CA440922821 | BBS7 | c.633A>G (p.Thr211=) c.636A>G (p.Thr212=) c.681A>G (p.Thr227=) c.678A>G (p.Thr226=) | ClinVar dbSNP gnomAD v4 |
4 | g.121854789T>G | CA440922822 | BBS7 | c.633A>C (p.Thr211=) c.636A>C (p.Thr212=) c.681A>C (p.Thr227=) c.678A>C (p.Thr226=) | |
4 | g.121854789T= | CA1490025999 | BBS7 | c.633A= (p.Thr211=) c.636A= (p.Thr212=) c.681A= (p.Thr227=) c.678A= (p.Thr226=) | |
4 | g.121854790G>A | CA252534 | BBS7 | c.632C>T (p.Thr211Ile) c.635C>T (p.Thr212Ile) c.680C>T (p.Thr227Ile) c.677C>T (p.Thr226Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.121854790G>C | CA358066119 | BBS7 | c.632C>G (p.Thr211Arg) c.635C>G (p.Thr212Arg) c.680C>G (p.Thr227Arg) c.677C>G (p.Thr226Arg) | ClinVar dbSNP |
4 | g.121854790G= | CA1490026000 | BBS7 | c.632C= (p.Thr211=) c.635C= (p.Thr212=) c.680C= (p.Thr227=) c.677C= (p.Thr226=) | |
4 | g.121854790G>T | CA358066122 | BBS7 | c.632C>A (p.Thr211Lys) c.635C>A (p.Thr212Lys) c.680C>A (p.Thr227Lys) c.677C>A (p.Thr226Lys) | |
4 | g.121854791T>A | CA358066126 | BBS7 | c.631A>T (p.Thr211Ser) c.634A>T (p.Thr212Ser) c.679A>T (p.Thr227Ser) c.676A>T (p.Thr226Ser) | gnomAD v4 |
4 | g.121854791T>C | CA358066130 | BBS7 | c.631A>G (p.Thr211Ala) c.634A>G (p.Thr212Ala) c.679A>G (p.Thr227Ala) c.676A>G (p.Thr226Ala) | dbSNP gnomAD v4 |
4 | g.121854791T>G | CA358066125 | BBS7 | c.631A>C (p.Thr211Pro) c.634A>C (p.Thr212Pro) c.679A>C (p.Thr227Pro) c.676A>C (p.Thr226Pro) | |
4 | g.121854791T= | CA1490026001 | BBS7 | c.631A= (p.Thr211=) c.634A= (p.Thr212=) c.679A= (p.Thr227=) c.676A= (p.Thr226=) | |
4 | g.121854792C>A | CA440922825 | BBS7 | c.630G>T (p.Gly210=) c.633G>T (p.Gly211=) c.678G>T (p.Gly226=) c.675G>T (p.Gly225=) | |
4 | g.121854792C>G | CA440922824 | BBS7 | c.630G>C (p.Gly210=) c.633G>C (p.Gly211=) c.678G>C (p.Gly226=) c.675G>C (p.Gly225=) | |
4 | g.121854792C>T | CA440922823 | BBS7 | c.630G>A (p.Gly210=) c.633G>A (p.Gly211=) c.678G>A (p.Gly226=) c.675G>A (p.Gly225=) | gnomAD v4 |
4 | g.121854793C>A | CA358066133 | BBS7 | c.629G>T (p.Gly210Val) c.632G>T (p.Gly211Val) c.677G>T (p.Gly226Val) c.674G>T (p.Gly225Val) | |
4 | g.121854793C>G | CA358066136 | BBS7 | c.629G>C (p.Gly210Ala) c.632G>C (p.Gly211Ala) c.677G>C (p.Gly226Ala) c.674G>C (p.Gly225Ala) | |
4 | g.121854793C>T | CA358066139 | BBS7 | c.629G>A (p.Gly210Glu) c.632G>A (p.Gly211Glu) c.677G>A (p.Gly226Glu) c.674G>A (p.Gly225Glu) | gnomAD v4 |
4 | g.121854794C>A | CA358066141 | BBS7 | c.628G>T (p.Gly210Trp) c.631G>T (p.Gly211Trp) c.676G>T (p.Gly226Trp) c.673G>T (p.Gly225Trp) | |
4 | g.121854794C>G | CA358066142 | BBS7 | c.628G>C (p.Gly210Arg) c.631G>C (p.Gly211Arg) c.676G>C (p.Gly226Arg) c.673G>C (p.Gly225Arg) | |
4 | g.121854794C>T | CA358066143 | BBS7 | c.628G>A (p.Gly210Arg) c.631G>A (p.Gly211Arg) c.676G>A (p.Gly226Arg) c.673G>A (p.Gly225Arg) | |
4 | g.121854795A>C | CA358066144 | BBS7 | c.627T>G (p.Phe209Leu) c.630T>G (p.Phe210Leu) c.675T>G (p.Phe225Leu) c.672T>G (p.Phe224Leu) | |
4 | g.121854795A>G | CA440922826 | BBS7 | c.627T>C (p.Phe209=) c.630T>C (p.Phe210=) c.675T>C (p.Phe225=) c.672T>C (p.Phe224=) | ClinVar dbSNP gnomAD v4 |
4 | g.121854795A>T | CA358066145 | BBS7 | c.627T>A (p.Phe209Leu) c.630T>A (p.Phe210Leu) c.675T>A (p.Phe225Leu) c.672T>A (p.Phe224Leu) | |
4 | g.121854796A= | CA1490026002 | BBS7 | c.626T= (p.Phe209=) c.629T= (p.Phe210=) c.674T= (p.Phe225=) c.671T= (p.Phe224=) | |
4 | g.121854796A>C | CA358066146 | BBS7 | c.626T>G (p.Phe209Cys) c.629T>G (p.Phe210Cys) c.674T>G (p.Phe225Cys) c.671T>G (p.Phe224Cys) | |
4 | g.121854796A>G | CA358066147 | BBS7 | c.626T>C (p.Phe209Ser) c.629T>C (p.Phe210Ser) c.674T>C (p.Phe225Ser) c.671T>C (p.Phe224Ser) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.121854796A>T | CA358066148 | BBS7 | c.626T>A (p.Phe209Tyr) c.629T>A (p.Phe210Tyr) c.674T>A (p.Phe225Tyr) c.671T>A (p.Phe224Tyr) | |
4 | g.121854797A>C | CA358066151 | BBS7 | c.625T>G (p.Phe209Val) c.628T>G (p.Phe210Val) c.673T>G (p.Phe225Val) c.670T>G (p.Phe224Val) | |
4 | g.121854797A>G | CA358066152 | BBS7 | c.625T>C (p.Phe209Leu) c.628T>C (p.Phe210Leu) c.673T>C (p.Phe225Leu) c.670T>C (p.Phe224Leu) | |
4 | g.121854797A>T | CA358066156 | BBS7 | c.625T>A (p.Phe209Ile) c.628T>A (p.Phe210Ile) c.673T>A (p.Phe225Ile) c.670T>A (p.Phe224Ile) | |
4 | g.121854798C>A | CA104766712 | BBS7 | c.624G>T (p.Leu208Phe) c.627G>T (p.Leu209Phe) c.672G>T (p.Leu224Phe) c.669G>T (p.Leu223Phe) | dbSNP |
4 | g.121854798C= | CA1490026003 | BBS7 | c.624G= (p.Leu208=) c.627G= (p.Leu209=) c.672G= (p.Leu224=) c.669G= (p.Leu223=) | |
4 | g.121854798C>G | CA358066159 | BBS7 | c.624G>C (p.Leu208Phe) c.627G>C (p.Leu209Phe) c.672G>C (p.Leu224Phe) c.669G>C (p.Leu223Phe) | |
4 | g.121854798C>T | CA440922827 | BBS7 | c.624G>A (p.Leu208=) c.627G>A (p.Leu209=) c.672G>A (p.Leu224=) c.669G>A (p.Leu223=) | |
4 | g.121854799A= | CA1490026004 | BBS7 | c.623T= (p.Leu208=) c.626T= (p.Leu209=) c.671T= (p.Leu224=) c.668T= (p.Leu223=) | |
4 | g.121854799A>C | CA3064448 | BBS7 | c.623T>G (p.Leu208Trp) c.626T>G (p.Leu209Trp) c.671T>G (p.Leu224Trp) c.668T>G (p.Leu223Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.121854799A>G | CA358066165 | BBS7 | c.623T>C (p.Leu208Ser) c.626T>C (p.Leu209Ser) c.671T>C (p.Leu224Ser) c.668T>C (p.Leu223Ser) | gnomAD v4 |
4 | g.121854799A>T | CA358066166 | BBS7 | c.623T>A (p.Leu208Ter) c.626T>A (p.Leu209Ter) c.671T>A (p.Leu224Ter) c.668T>A (p.Leu223Ter) | |
4 | g.121854799_121854800insCACC | CA2763339217 | BBS7 | c.622_623insGGTG (p.Leu208TrpfsTer29) c.625_626insGGTG (p.Leu209TrpfsTer29) c.670_671insGGTG (p.Leu224TrpfsTer29) c.667_668insGGTG (p.Leu223TrpfsTer29) | |
4 | g.121854799_121854800insCACCCAACAC | CA2763339218 | BBS7 | c.622_623insGTGTTGGGTG (p.Leu208CysfsTer31) c.625_626insGTGTTGGGTG (p.Leu209CysfsTer31) c.670_671insGTGTTGGGTG (p.Leu224CysfsTer31) c.667_668insGTGTTGGGTG (p.Leu223CysfsTer31) | |
4 | g.121854800A>C | CA358066168 | BBS7 | c.622T>G (p.Leu208Val) c.625T>G (p.Leu209Val) c.670T>G (p.Leu224Val) c.667T>G (p.Leu223Val) | |
4 | g.121854800A>G | CA440922828 | BBS7 | c.622T>C (p.Leu208=) c.625T>C (p.Leu209=) c.670T>C (p.Leu224=) c.667T>C (p.Leu223=) | |
4 | g.121854800A>T | CA358066171 | BBS7 | c.622T>A (p.Leu208Met) c.625T>A (p.Leu209Met) c.670T>A (p.Leu224Met) c.667T>A (p.Leu223Met) | |
4 | g.121854801A>C | CA440922829 | BBS7 | c.621T>G (p.Leu207=) c.624T>G (p.Leu208=) c.669T>G (p.Leu223=) c.666T>G (p.Leu222=) | |
4 | g.121854801A>G | CA440922830 | BBS7 | c.621T>C (p.Leu207=) c.624T>C (p.Leu208=) c.669T>C (p.Leu223=) c.666T>C (p.Leu222=) | gnomAD v4 |
4 | g.121854801A>T | CA440922831 | BBS7 | c.621T>A (p.Leu207=) c.624T>A (p.Leu208=) c.669T>A (p.Leu223=) c.666T>A (p.Leu222=) | |
4 | g.121854802A>C | CA358066172 | BBS7 | c.620T>G (p.Leu207Arg) c.623T>G (p.Leu208Arg) c.668T>G (p.Leu223Arg) c.665T>G (p.Leu222Arg) | |
4 | g.121854802A>G | CA358066174 | BBS7 | c.620T>C (p.Leu207Pro) c.623T>C (p.Leu208Pro) c.668T>C (p.Leu223Pro) c.665T>C (p.Leu222Pro) | |
4 | g.121854802A>T | CA358066175 | BBS7 | c.620T>A (p.Leu207His) c.623T>A (p.Leu208His) c.668T>A (p.Leu223His) c.665T>A (p.Leu222His) | |
4 | g.121854802_121854803delinsAG | CA1490026005 | BBS7 | c.619_620delinsCT (p.Leu207=) c.622_623delinsCT (p.Leu208=) c.667_668delinsCT (p.Leu223=) c.664_665delinsCT (p.Leu222=) | |
4 | g.121854803G>A | CA3064449 | BBS7 | c.619C>T (p.Leu207Phe) c.622C>T (p.Leu208Phe) c.667C>T (p.Leu223Phe) c.664C>T (p.Leu222Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.121854803G>C | CA358066178 | BBS7 | c.619C>G (p.Leu207Val) c.622C>G (p.Leu208Val) c.667C>G (p.Leu223Val) c.664C>G (p.Leu222Val) | gnomAD v4 |
4 | g.121854803G= | CA1490026007 | BBS7 | c.619C= (p.Leu207=) c.622C= (p.Leu208=) c.667C= (p.Leu223=) c.664C= (p.Leu222=) | |
4 | g.121854803G>T | CA358066183 | BBS7 | c.619C>A (p.Leu207Ile) c.622C>A (p.Leu208Ile) c.667C>A (p.Leu223Ile) c.664C>A (p.Leu222Ile) | |
4 | g.121854804del | CA1490026006 | BBS7 | c.619del (p.Leu207PhefsTer?) c.622del (p.Leu208PhefsTer?) c.667del (p.Leu223PhefsTer?) c.664del (p.Leu222PhefsTer?) |