Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.108620250A= | CA2450695918 | COL4A5 | c.2510-9A= (n.2510-9A=) n.1966-9A= c.2186-9A= (n.2186-9A=) c.83-9A= (n.83-9A=) c.2525-9A= (n.2525-9A=) c.845-9A= (n.845-9A=) | |
X | g.108620250A>G | CA10488936 | COL4A5 | c.2510-9A>G (n.2510-9A>G) n.1966-9A>G c.2186-9A>G (n.2186-9A>G) c.83-9A>G (n.83-9A>G) c.2525-9A>G (n.2525-9A>G) c.845-9A>G (n.845-9A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108620253A>G | CA2516550043 | COL4A5 | c.2510-6A>G (n.2510-6A>G) n.1966-6A>G c.2186-6A>G (n.2186-6A>G) c.83-6A>G (n.83-6A>G) c.2525-6A>G (n.2525-6A>G) c.845-6A>G (n.845-6A>G) | |
X | g.108620253A>T | CA2694440015 | COL4A5 | c.2510-6A>T (n.2510-6A>T) n.1966-6A>T c.2186-6A>T (n.2186-6A>T) c.83-6A>T (n.83-6A>T) c.2525-6A>T (n.2525-6A>T) c.845-6A>T (n.845-6A>T) | gnomAD v4 |
X | g.108620255C>G | CA2694440016 | COL4A5 | c.2510-4C>G (n.2510-4C>G) n.1966-4C>G c.2186-4C>G (n.2186-4C>G) c.83-4C>G (n.83-4C>G) c.2525-4C>G (n.2525-4C>G) c.845-4C>G (n.845-4C>G) | gnomAD v4 |
X | g.108620255C>T | CA2697544733 | COL4A5 | c.2510-4C>T (n.2510-4C>T) n.1966-4C>T c.2186-4C>T (n.2186-4C>T) c.83-4C>T (n.83-4C>T) c.2525-4C>T (n.2525-4C>T) c.845-4C>T (n.845-4C>T) | ClinVar |
X | g.108620255_108620270delinsCTAGGTTTACATGGAA | CA2450695919 | COL4A5 | c.2510-4_2521delinsCTAGGTTTACATGGAA n.1966-4_1977delinsCTAGGTTTACATGGAA c.2186-4_2197delinsCTAGGTTTACATGGAA c.83-4_94delinsCTAGGTTTACATGGAA c.2525-4_2536delinsCTAGGTTTACATGGAA c.845-4_856delinsCTAGGTTTACATGGAA | |
X | g.108620256T>G | CA2694440017 | COL4A5 | c.2510-3T>G (n.2510-3T>G) n.1966-3T>G c.2186-3T>G (n.2186-3T>G) c.83-3T>G (n.83-3T>G) c.2525-3T>G (n.2525-3T>G) c.845-3T>G (n.845-3T>G) | gnomAD v4 |
X | g.108620258_108620263del | CA2499226319 | COL4A5 | c.2510-1_2514del n.1966-1_1970del c.2186-1_2190del c.83-1_87del c.2525-1_2529del c.845-1_849del | ClinVar dbSNP |
X | g.108620258_108620272del | CA16621172 | COL4A5 | c.2510-1_2523del n.1966-1_1979del c.2186-1_2199del c.83-1_96del c.2525-1_2538del c.845-1_858del | ClinVar dbSNP |
X | g.108620257A= | CA2450695921 | COL4A5 | c.2510-2A= (n.2510-2A=) n.1966-2A= c.2186-2A= (n.2186-2A=) c.83-2A= (n.83-2A=) c.2525-2A= (n.2525-2A=) c.845-2A= (n.845-2A=) | |
X | g.108620257A>C | CA413851212 | COL4A5 | c.2510-2A>C (n.2510-2A>C) n.1966-2A>C c.2186-2A>C (n.2186-2A>C) c.83-2A>C (n.83-2A>C) c.2525-2A>C (n.2525-2A>C) c.845-2A>C (n.845-2A>C) | |
X | g.108620257A>G | CA10488937 | COL4A5 | c.2510-2A>G (n.2510-2A>G) n.1966-2A>G c.2186-2A>G (n.2186-2A>G) c.83-2A>G (n.83-2A>G) c.2525-2A>G (n.2525-2A>G) c.845-2A>G (n.845-2A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108620257A>T | CA413851214 | COL4A5 | c.2510-2A>T (n.2510-2A>T) n.1966-2A>T c.2186-2A>T (n.2186-2A>T) c.83-2A>T (n.83-2A>T) c.2525-2A>T (n.2525-2A>T) c.845-2A>T (n.845-2A>T) | |
X | g.108620257_108620258delinsAG | CA2450695920 | COL4A5 | c.2510-2_2510-1delinsAG (n.2510-2_2510-1delinsAG) n.1966-2_1966-1delinsAG c.2186-2_2186-1delinsAG (n.2186-2_2186-1delinsAG) c.83-2_83-1delinsAG (n.83-2_83-1delinsAG) c.2525-2_2525-1delinsAG (n.2525-2_2525-1delinsAG) c.845-2_845-1delinsAG (n.845-2_845-1delinsAG) | |
X | g.108620257_108620274delinsAGGTTTACATGGAATACC | CA2450695922 | COL4A5 | c.2510-2_2525delinsAGGTTTACATGGAATACC n.1966-2_1981delinsAGGTTTACATGGAATACC c.2186-2_2201delinsAGGTTTACATGGAATACC c.83-2_98delinsAGGTTTACATGGAATACC c.2525-2_2540delinsAGGTTTACATGGAATACC c.845-2_860delinsAGGTTTACATGGAATACC | |
X | g.108620257_108620303delinsAGGTTTACATGGAATACCAGGAGAGAAGGGGGATCCAGGACCTCCTG | CA2450695923 | COL4A5 | c.2510-2_2554delinsAGGTTTACATGGAATACCAGGAGAGAAGGGGGATCCAGGACCTCCTG n.1966-2_2010delinsAGGTTTACATGGAATACCAGGAGAGAAGGGGGATCCAGGACCTCCTG c.2186-2_2230delinsAGGTTTACATGGAATACCAGGAGAGAAGGGGGATCCAGGACCTCCTG c.83-2_127delinsAGGTTTACATGGAATACCAGGAGAGAAGGGGGATCCAGGACCTCCTG c.2525-2_2569delinsAGGTTTACATGGAATACCAGGAGAGAAGGGGGATCCAGGACCTCCTG c.845-2_889delinsAGGTTTACATGGAATACCAGGAGAGAAGGGGGATCCAGGACCTCCTG | |
X | g.108620258G>A | CA10488938 | COL4A5 | c.2510-1G>A (n.2510-1G>A) n.1966-1G>A c.2186-1G>A (n.2186-1G>A) c.83-1G>A (n.83-1G>A) c.2525-1G>A (n.2525-1G>A) c.845-1G>A (n.845-1G>A) | ClinVar dbSNP ExAC |
X | g.108620258G>C | CA413851222 | COL4A5 | c.2510-1G>C (n.2510-1G>C) n.1966-1G>C c.2186-1G>C (n.2186-1G>C) c.83-1G>C (n.83-1G>C) c.2525-1G>C (n.2525-1G>C) c.845-1G>C (n.845-1G>C) | |
X | g.108620258G= | CA2450695924 | COL4A5 | c.2510-1G= (n.2510-1G=) n.1966-1G= c.2186-1G= (n.2186-1G=) c.83-1G= (n.83-1G=) c.2525-1G= (n.2525-1G=) c.845-1G= (n.845-1G=) | |
X | g.108620258G>T | CA413851216 | COL4A5 | c.2510-1G>T (n.2510-1G>T) n.1966-1G>T c.2186-1G>T (n.2186-1G>T) c.83-1G>T (n.83-1G>T) c.2525-1G>T (n.2525-1G>T) c.845-1G>T (n.845-1G>T) | ClinVar dbSNP |
X | g.108620259del | CA258702 | COL4A5 | c.2510del n.1966del c.2186del c.83del c.2525del c.845del | dbSNP |
X | g.108620258_108620274del | CA891843940 | COL4A5 | c.2510-1_2525del n.1966-1_1981del c.2186-1_2201del c.83-1_98del c.2525-1_2540del c.845-1_860del | |
X | g.108620259_108620304del | CA891843941 | COL4A5 | c.2510_2555del n.1966_2011del c.2186_2231del c.83_128del c.2525_2570del c.845_890del | |
X | g.108620259G>A | CA413851226 | COL4A5 | c.2510G>A (p.Gly837Asp) n.1966G>A c.2186G>A (p.Gly729Asp) c.83G>A (p.Gly28Asp) c.2525G>A (p.Gly842Asp) c.845G>A (p.Gly282Asp) | ClinVar |
X | g.108620259G>C | CA413851230 | COL4A5 | c.2510G>C (p.Gly837Ala) n.1966G>C c.2186G>C (p.Gly729Ala) c.83G>C (p.Gly28Ala) c.2525G>C (p.Gly842Ala) c.845G>C (p.Gly282Ala) | |
X | g.108620259G>T | CA413851228 | COL4A5 | c.2510G>T (p.Gly837Val) n.1966G>T c.2186G>T (p.Gly729Val) c.83G>T (p.Gly28Val) c.2525G>T (p.Gly842Val) c.845G>T (p.Gly282Val) | |
X | g.108620260T>A | CA517923920 | COL4A5 | c.2511T>A (p.Gly837=) n.1967T>A c.2187T>A (p.Gly729=) c.84T>A (p.Gly28=) c.2526T>A (p.Gly842=) c.846T>A (p.Gly282=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108620260T>C | CA517923922 | COL4A5 | c.2511T>C (p.Gly837=) n.1967T>C c.2187T>C (p.Gly729=) c.84T>C (p.Gly28=) c.2526T>C (p.Gly842=) c.846T>C (p.Gly282=) | ClinVar dbSNP |
X | g.108620260T>G | CA517923924 | COL4A5 | c.2511T>G (p.Gly837=) n.1967T>G c.2187T>G (p.Gly729=) c.84T>G (p.Gly28=) c.2526T>G (p.Gly842=) c.846T>G (p.Gly282=) | |
X | g.108620260T= | CA2450695925 | COL4A5 | c.2511T= (p.Gly837=) n.1967T= c.2187T= (p.Gly729=) c.84T= (p.Gly28=) c.2526T= (p.Gly842=) c.846T= (p.Gly282=) | |
X | g.108620262dup | CA2695235214 | COL4A5 | c.2513dup (p.Leu838PhefsTer17) n.1969dup c.2189dup (p.Leu730PhefsTer17) c.86dup (p.Leu29PhefsTer17) c.2528dup (p.Leu843PhefsTer17) c.848dup (p.Leu283PhefsTer17) | |
X | g.108620262del | CA2695235213 | COL4A5 | c.2513del (p.Leu838TyrfsTer?) n.1969del c.2189del (p.Leu730TyrfsTer?) c.86del (p.Leu29TyrfsTer?) c.2528del (p.Leu843TyrfsTer?) c.848del (p.Leu283TyrfsTer?) | |
X | g.108620261T>A | CA413851232 | COL4A5 | c.2512T>A (p.Leu838Ile) n.1968T>A c.2188T>A (p.Leu730Ile) c.85T>A (p.Leu29Ile) c.2527T>A (p.Leu843Ile) c.847T>A (p.Leu283Ile) | |
X | g.108620261T>C | CA517923927 | COL4A5 | c.2512T>C (p.Leu838=) n.1968T>C c.2188T>C (p.Leu730=) c.85T>C (p.Leu29=) c.2527T>C (p.Leu843=) c.847T>C (p.Leu283=) | |
X | g.108620261T>G | CA413851233 | COL4A5 | c.2512T>G (p.Leu838Val) n.1968T>G c.2188T>G (p.Leu730Val) c.85T>G (p.Leu29Val) c.2527T>G (p.Leu843Val) c.847T>G (p.Leu283Val) | |
X | g.108620262T>A | CA413851235 | COL4A5 | c.2513T>A (p.Leu838Ter) n.1969T>A c.2189T>A (p.Leu730Ter) c.86T>A (p.Leu29Ter) c.2528T>A (p.Leu843Ter) c.848T>A (p.Leu283Ter) | |
X | g.108620262T>C | CA413851237 | COL4A5 | c.2513T>C (p.Leu838Ser) n.1969T>C c.2189T>C (p.Leu730Ser) c.86T>C (p.Leu29Ser) c.2528T>C (p.Leu843Ser) c.848T>C (p.Leu283Ser) | |
X | g.108620262T>G | CA413851239 | COL4A5 | c.2513T>G (p.Leu838Ter) n.1969T>G c.2189T>G (p.Leu730Ter) c.86T>G (p.Leu29Ter) c.2528T>G (p.Leu843Ter) c.848T>G (p.Leu283Ter) | ClinVar dbSNP |
X | g.108620262T= | CA2450695926 | COL4A5 | c.2513T= (p.Leu838=) n.1969T= c.2189T= (p.Leu730=) c.86T= (p.Leu29=) c.2528T= (p.Leu843=) c.848T= (p.Leu283=) | |
X | g.108620263A>C | CA413851241 | COL4A5 | c.2514A>C (p.Leu838Phe) n.1970A>C c.2190A>C (p.Leu730Phe) c.87A>C (p.Leu29Phe) c.2529A>C (p.Leu843Phe) c.849A>C (p.Leu283Phe) | |
X | g.108620263A>G | CA517923929 | COL4A5 | c.2514A>G (p.Leu838=) n.1970A>G c.2190A>G (p.Leu730=) c.87A>G (p.Leu29=) c.2529A>G (p.Leu843=) c.849A>G (p.Leu283=) | |
X | g.108620263A>T | CA413851243 | COL4A5 | c.2514A>T (p.Leu838Phe) n.1970A>T c.2190A>T (p.Leu730Phe) c.87A>T (p.Leu29Phe) c.2529A>T (p.Leu843Phe) c.849A>T (p.Leu283Phe) | |
X | g.108620264C>A | CA413851245 | COL4A5 | c.2515C>A (p.His839Asn) n.1971C>A c.2191C>A (p.His731Asn) c.88C>A (p.His30Asn) c.2530C>A (p.His844Asn) c.850C>A (p.His284Asn) | gnomAD v4 |
X | g.108620264C>G | CA413851247 | COL4A5 | c.2515C>G (p.His839Asp) n.1971C>G c.2191C>G (p.His731Asp) c.88C>G (p.His30Asp) c.2530C>G (p.His844Asp) c.850C>G (p.His284Asp) | |
X | g.108620264C>T | CA413851249 | COL4A5 | c.2515C>T (p.His839Tyr) n.1971C>T c.2191C>T (p.His731Tyr) c.88C>T (p.His30Tyr) c.2530C>T (p.His844Tyr) c.850C>T (p.His284Tyr) | gnomAD v4 |
X | g.108620265A= | CA2450695927 | COL4A5 | c.2516A= (p.His839=) n.1972A= c.2192A= (p.His731=) c.89A= (p.His30=) c.2531A= (p.His844=) c.851A= (p.His284=) | |
X | g.108620265A>C | CA413851251 | COL4A5 | c.2516A>C (p.His839Pro) n.1972A>C c.2192A>C (p.His731Pro) c.89A>C (p.His30Pro) c.2531A>C (p.His844Pro) c.851A>C (p.His284Pro) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108620265A>G | CA413851252 | COL4A5 | c.2516A>G (p.His839Arg) n.1972A>G c.2192A>G (p.His731Arg) c.89A>G (p.His30Arg) c.2531A>G (p.His844Arg) c.851A>G (p.His284Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.108620265A>T | CA413851254 | COL4A5 | c.2516A>T (p.His839Leu) n.1972A>T c.2192A>T (p.His731Leu) c.89A>T (p.His30Leu) c.2531A>T (p.His844Leu) c.851A>T (p.His284Leu) | |
X | g.108620266T>A | CA413851255 | COL4A5 | c.2517T>A (p.His839Gln) n.1973T>A c.2193T>A (p.His731Gln) c.90T>A (p.His30Gln) c.2532T>A (p.His844Gln) c.852T>A (p.His284Gln) | |
X | g.108620266T>C | CA517923936 | COL4A5 | c.2517T>C (p.His839=) n.1973T>C c.2193T>C (p.His731=) c.90T>C (p.His30=) c.2532T>C (p.His844=) c.852T>C (p.His284=) | |
X | g.108620266T>G | CA413851256 | COL4A5 | c.2517T>G (p.His839Gln) n.1973T>G c.2193T>G (p.His731Gln) c.90T>G (p.His30Gln) c.2532T>G (p.His844Gln) c.852T>G (p.His284Gln) | |
X | g.108620267G>A | CA413851258 | COL4A5 | c.2518G>A (p.Gly840Arg) n.1974G>A c.2194G>A (p.Gly732Arg) c.91G>A (p.Gly31Arg) c.2533G>A (p.Gly845Arg) c.853G>A (p.Gly285Arg) | |
X | g.108620267G>C | CA413851259 | COL4A5 | c.2518G>C (p.Gly840Arg) n.1974G>C c.2194G>C (p.Gly732Arg) c.91G>C (p.Gly31Arg) c.2533G>C (p.Gly845Arg) c.853G>C (p.Gly285Arg) | |
X | g.108620267G>T | CA413851260 | COL4A5 | c.2518G>T (p.Gly840Ter) n.1974G>T c.2194G>T (p.Gly732Ter) c.91G>T (p.Gly31Ter) c.2533G>T (p.Gly845Ter) c.853G>T (p.Gly285Ter) | ClinVar dbSNP |
X | g.108620268G>A | CA413851261 | COL4A5 | c.2519G>A (p.Gly840Glu) n.1975G>A c.2195G>A (p.Gly732Glu) c.92G>A (p.Gly31Glu) c.2534G>A (p.Gly845Glu) c.854G>A (p.Gly285Glu) | |
X | g.108620268G>C | CA413851262 | COL4A5 | c.2519G>C (p.Gly840Ala) n.1975G>C c.2195G>C (p.Gly732Ala) c.92G>C (p.Gly31Ala) c.2534G>C (p.Gly845Ala) c.854G>C (p.Gly285Ala) | |
X | g.108620268G>T | CA413851264 | COL4A5 | c.2519G>T (p.Gly840Val) n.1975G>T c.2195G>T (p.Gly732Val) c.92G>T (p.Gly31Val) c.2534G>T (p.Gly845Val) c.854G>T (p.Gly285Val) | |
X | g.108620269A= | CA2450695928 | COL4A5 | c.2520A= (p.Gly840=) n.1976A= c.2196A= (p.Gly732=) c.93A= (p.Gly31=) c.2535A= (p.Gly845=) c.855A= (p.Gly285=) | |
X | g.108620269A>C | CA517923941 | COL4A5 | c.2520A>C (p.Gly840=) n.1976A>C c.2196A>C (p.Gly732=) c.93A>C (p.Gly31=) c.2535A>C (p.Gly845=) c.855A>C (p.Gly285=) | ClinVar |
X | g.108620269A>G | CA10488939 | COL4A5 | c.2520A>G (p.Gly840=) n.1976A>G c.2196A>G (p.Gly732=) c.93A>G (p.Gly31=) c.2535A>G (p.Gly845=) c.855A>G (p.Gly285=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108620269A>T | CA517923942 | COL4A5 | c.2520A>T (p.Gly840=) n.1976A>T c.2196A>T (p.Gly732=) c.93A>T (p.Gly31=) c.2535A>T (p.Gly845=) c.855A>T (p.Gly285=) | |
X | g.108620270A>C | CA413851267 | COL4A5 | c.2521A>C (p.Ile841Leu) n.1977A>C c.2197A>C (p.Ile733Leu) c.94A>C (p.Ile32Leu) c.2536A>C (p.Ile846Leu) c.856A>C (p.Ile286Leu) | |
X | g.108620270A>G | CA413851269 | COL4A5 | c.2521A>G (p.Ile841Val) n.1977A>G c.2197A>G (p.Ile733Val) c.94A>G (p.Ile32Val) c.2536A>G (p.Ile846Val) c.856A>G (p.Ile286Val) | |
X | g.108620270A>T | CA413851268 | COL4A5 | c.2521A>T (p.Ile841Leu) n.1977A>T c.2197A>T (p.Ile733Leu) c.94A>T (p.Ile32Leu) c.2536A>T (p.Ile846Leu) c.856A>T (p.Ile286Leu) | |
X | g.108620271T>A | CA413851270 | COL4A5 | c.2522T>A (p.Ile841Lys) n.1978T>A c.2198T>A (p.Ile733Lys) c.95T>A (p.Ile32Lys) c.2537T>A (p.Ile846Lys) c.857T>A (p.Ile286Lys) | |
X | g.108620271T>C | CA413851271 | COL4A5 | c.2522T>C (p.Ile841Thr) n.1978T>C c.2198T>C (p.Ile733Thr) c.95T>C (p.Ile32Thr) c.2537T>C (p.Ile846Thr) c.857T>C (p.Ile286Thr) | |
X | g.108620271T>G | CA413851272 | COL4A5 | c.2522T>G (p.Ile841Arg) n.1978T>G c.2198T>G (p.Ile733Arg) c.95T>G (p.Ile32Arg) c.2537T>G (p.Ile846Arg) c.857T>G (p.Ile286Arg) | |
X | g.108620272A>C | CA517923948 | COL4A5 | c.2523A>C (p.Ile841=) n.1979A>C c.2199A>C (p.Ile733=) c.96A>C (p.Ile32=) c.2538A>C (p.Ile846=) c.858A>C (p.Ile286=) | |
X | g.108620272A>G | CA413851273 | COL4A5 | c.2523A>G (p.Ile841Met) n.1979A>G c.2199A>G (p.Ile733Met) c.96A>G (p.Ile32Met) c.2538A>G (p.Ile846Met) c.858A>G (p.Ile286Met) | |
X | g.108620272A>T | CA517923949 | COL4A5 | c.2523A>T (p.Ile841=) n.1979A>T c.2199A>T (p.Ile733=) c.96A>T (p.Ile32=) c.2538A>T (p.Ile846=) c.858A>T (p.Ile286=) | |
X | g.108620273C>A | CA413851274 | COL4A5 | c.2524C>A (p.Pro842Thr) n.1980C>A c.2200C>A (p.Pro734Thr) c.97C>A (p.Pro33Thr) c.2539C>A (p.Pro847Thr) c.859C>A (p.Pro287Thr) | |
X | g.108620273C>G | CA413851276 | COL4A5 | c.2524C>G (p.Pro842Ala) n.1980C>G c.2200C>G (p.Pro734Ala) c.97C>G (p.Pro33Ala) c.2539C>G (p.Pro847Ala) c.859C>G (p.Pro287Ala) | |
X | g.108620273C>T | CA413851275 | COL4A5 | c.2524C>T (p.Pro842Ser) n.1980C>T c.2200C>T (p.Pro734Ser) c.97C>T (p.Pro33Ser) c.2539C>T (p.Pro847Ser) c.859C>T (p.Pro287Ser) | ClinVar gnomAD v4 |
X | g.108620274C>A | CA413851277 | COL4A5 | c.2525C>A (p.Pro842Gln) n.1981C>A c.2201C>A (p.Pro734Gln) c.98C>A (p.Pro33Gln) c.2540C>A (p.Pro847Gln) c.860C>A (p.Pro287Gln) | |
X | g.108620274C>G | CA413851279 | COL4A5 | c.2525C>G (p.Pro842Arg) n.1981C>G c.2201C>G (p.Pro734Arg) c.98C>G (p.Pro33Arg) c.2540C>G (p.Pro847Arg) c.860C>G (p.Pro287Arg) | gnomAD v4 |
X | g.108620274C>T | CA413851278 | COL4A5 | c.2525C>T (p.Pro842Leu) n.1981C>T c.2201C>T (p.Pro734Leu) c.98C>T (p.Pro33Leu) c.2540C>T (p.Pro847Leu) c.860C>T (p.Pro287Leu) | gnomAD v4 |
X | g.108620275A= | CA2450695929 | COL4A5 | c.2526A= (p.Pro842=) n.1982A= c.2202A= (p.Pro734=) c.99A= (p.Pro33=) c.2541A= (p.Pro847=) c.861A= (p.Pro287=) | |
X | g.108620275A>C | CA517923955 | COL4A5 | c.2526A>C (p.Pro842=) n.1982A>C c.2202A>C (p.Pro734=) c.99A>C (p.Pro33=) c.2541A>C (p.Pro847=) c.861A>C (p.Pro287=) | |
X | g.108620275A>G | CA10488940 | COL4A5 | c.2526A>G (p.Pro842=) n.1982A>G c.2202A>G (p.Pro734=) c.99A>G (p.Pro33=) c.2541A>G (p.Pro847=) c.861A>G (p.Pro287=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108620275A>T | CA517923951 | COL4A5 | c.2526A>T (p.Pro842=) n.1982A>T c.2202A>T (p.Pro734=) c.99A>T (p.Pro33=) c.2541A>T (p.Pro847=) c.861A>T (p.Pro287=) | |
X | g.108620276G>A | CA413851280 | COL4A5 | c.2527G>A (p.Gly843Arg) n.1983G>A c.2203G>A (p.Gly735Arg) c.100G>A (p.Gly34Arg) c.2542G>A (p.Gly848Arg) c.862G>A (p.Gly288Arg) | |
X | g.108620276G>C | CA413851281 | COL4A5 | c.2527G>C (p.Gly843Arg) n.1983G>C c.2203G>C (p.Gly735Arg) c.100G>C (p.Gly34Arg) c.2542G>C (p.Gly848Arg) c.862G>C (p.Gly288Arg) | |
X | g.108620276G>T | CA413851282 | COL4A5 | c.2527G>T (p.Gly843Ter) n.1983G>T c.2203G>T (p.Gly735Ter) c.100G>T (p.Gly34Ter) c.2542G>T (p.Gly848Ter) c.862G>T (p.Gly288Ter) | |
X | g.108620277G>A | CA413851283 | COL4A5 | c.2528G>A (p.Gly843Glu) n.1984G>A c.2204G>A (p.Gly735Glu) c.101G>A (p.Gly34Glu) c.2543G>A (p.Gly848Glu) c.863G>A (p.Gly288Glu) | |
X | g.108620277G>C | CA413851284 | COL4A5 | c.2528G>C (p.Gly843Ala) n.1984G>C c.2204G>C (p.Gly735Ala) c.101G>C (p.Gly34Ala) c.2543G>C (p.Gly848Ala) c.863G>C (p.Gly288Ala) | |
X | g.108620277G>T | CA413851285 | COL4A5 | c.2528G>T (p.Gly843Val) n.1984G>T c.2204G>T (p.Gly735Val) c.101G>T (p.Gly34Val) c.2543G>T (p.Gly848Val) c.863G>T (p.Gly288Val) | |
X | g.108620278A= | CA2450695930 | COL4A5 | c.2529A= (p.Gly843=) n.1985A= c.2205A= (p.Gly735=) c.102A= (p.Gly34=) c.2544A= (p.Gly848=) c.864A= (p.Gly288=) | |
X | g.108620278A>C | CA517923956 | COL4A5 | c.2529A>C (p.Gly843=) n.1985A>C c.2205A>C (p.Gly735=) c.102A>C (p.Gly34=) c.2544A>C (p.Gly848=) c.864A>C (p.Gly288=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108620278A>G | CA10488941 | COL4A5 | c.2529A>G (p.Gly843=) n.1985A>G c.2205A>G (p.Gly735=) c.102A>G (p.Gly34=) c.2544A>G (p.Gly848=) c.864A>G (p.Gly288=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108620278A>T | CA517923959 | COL4A5 | c.2529A>T (p.Gly843=) n.1985A>T c.2205A>T (p.Gly735=) c.102A>T (p.Gly34=) c.2544A>T (p.Gly848=) c.864A>T (p.Gly288=) | |
X | g.108620279G>A | CA413851286 | COL4A5 | c.2530G>A (p.Glu844Lys) n.1986G>A c.2206G>A (p.Glu736Lys) c.103G>A (p.Glu35Lys) c.2545G>A (p.Glu849Lys) c.865G>A (p.Glu289Lys) | |
X | g.108620279G>C | CA413851287 | COL4A5 | c.2530G>C (p.Glu844Gln) n.1986G>C c.2206G>C (p.Glu736Gln) c.103G>C (p.Glu35Gln) c.2545G>C (p.Glu849Gln) c.865G>C (p.Glu289Gln) | |
X | g.108620279G>T | CA413851288 | COL4A5 | c.2530G>T (p.Glu844Ter) n.1986G>T c.2206G>T (p.Glu736Ter) c.103G>T (p.Glu35Ter) c.2545G>T (p.Glu849Ter) c.865G>T (p.Glu289Ter) | ClinVar |
X | g.108620280A>C | CA413851291 | COL4A5 | c.2531A>C (p.Glu844Ala) n.1987A>C c.2207A>C (p.Glu736Ala) c.104A>C (p.Glu35Ala) c.2546A>C (p.Glu849Ala) c.866A>C (p.Glu289Ala) | |
X | g.108620280A>G | CA413851289 | COL4A5 | c.2531A>G (p.Glu844Gly) n.1987A>G c.2207A>G (p.Glu736Gly) c.104A>G (p.Glu35Gly) c.2546A>G (p.Glu849Gly) c.866A>G (p.Glu289Gly) | |
X | g.108620280A>T | CA413851290 | COL4A5 | c.2531A>T (p.Glu844Val) n.1987A>T c.2207A>T (p.Glu736Val) c.104A>T (p.Glu35Val) c.2546A>T (p.Glu849Val) c.866A>T (p.Glu289Val) | |
X | g.108620281G>A | CA517923961 | COL4A5 | c.2532G>A (p.Glu844=) n.1988G>A c.2208G>A (p.Glu736=) c.105G>A (p.Glu35=) c.2547G>A (p.Glu849=) c.867G>A (p.Glu289=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.108620281G>C | CA413851292 | COL4A5 | c.2532G>C (p.Glu844Asp) n.1988G>C c.2208G>C (p.Glu736Asp) c.105G>C (p.Glu35Asp) c.2547G>C (p.Glu849Asp) c.867G>C (p.Glu289Asp) | |
X | g.108620281G= | CA2450695931 | COL4A5 | c.2532G= (p.Glu844=) n.1988G= c.2208G= (p.Glu736=) c.105G= (p.Glu35=) c.2547G= (p.Glu849=) c.867G= (p.Glu289=) | |
X | g.108620281G>T | CA413851293 | COL4A5 | c.2532G>T (p.Glu844Asp) n.1988G>T c.2208G>T (p.Glu736Asp) c.105G>T (p.Glu35Asp) c.2547G>T (p.Glu849Asp) c.867G>T (p.Glu289Asp) | |
X | g.108620282A= | CA2450695932 | COL4A5 | c.2533A= (p.Lys845=) n.1989A= c.2209A= (p.Lys737=) c.106A= (p.Lys36=) c.2548A= (p.Lys850=) c.868A= (p.Lys290=) | |
X | g.108620282A>C | CA413851294 | COL4A5 | c.2533A>C (p.Lys845Gln) n.1989A>C c.2209A>C (p.Lys737Gln) c.106A>C (p.Lys36Gln) c.2548A>C (p.Lys850Gln) c.868A>C (p.Lys290Gln) | |
X | g.108620282A>G | CA334048940 | COL4A5 | c.2533A>G (p.Lys845Glu) n.1989A>G c.2209A>G (p.Lys737Glu) c.106A>G (p.Lys36Glu) c.2548A>G (p.Lys850Glu) c.868A>G (p.Lys290Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.108620282A>T | CA413851295 | COL4A5 | c.2533A>T (p.Lys845Ter) n.1989A>T c.2209A>T (p.Lys737Ter) c.106A>T (p.Lys36Ter) c.2548A>T (p.Lys850Ter) c.868A>T (p.Lys290Ter) | |
X | g.108620283del | CA2579676514 | COL4A5 | c.2534del (p.Lys845ArgfsTer30) n.1990del c.2210del (p.Lys737ArgfsTer30) c.107del (p.Lys36ArgfsTer30) c.2549del (p.Lys850ArgfsTer30) c.869del (p.Lys290ArgfsTer30) | gnomAD v4 |
X | g.108620283A= | CA2450695933 | COL4A5 | c.2534A= (p.Lys845=) n.1990A= c.2210A= (p.Lys737=) c.107A= (p.Lys36=) c.2549A= (p.Lys850=) c.869A= (p.Lys290=) | |
X | g.108620283A>C | CA413851296 | COL4A5 | c.2534A>C (p.Lys845Thr) n.1990A>C c.2210A>C (p.Lys737Thr) c.107A>C (p.Lys36Thr) c.2549A>C (p.Lys850Thr) c.869A>C (p.Lys290Thr) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108620283A>G | CA413851297 | COL4A5 | c.2534A>G (p.Lys845Arg) n.1990A>G c.2210A>G (p.Lys737Arg) c.107A>G (p.Lys36Arg) c.2549A>G (p.Lys850Arg) c.869A>G (p.Lys290Arg) | |
X | g.108620283A>T | CA413851298 | COL4A5 | c.2534A>T (p.Lys845Met) n.1990A>T c.2210A>T (p.Lys737Met) c.107A>T (p.Lys36Met) c.2549A>T (p.Lys850Met) c.869A>T (p.Lys290Met) | |
X | g.108620284G>A | CA517923968 | COL4A5 | c.2535G>A (p.Lys845=) n.1991G>A c.2211G>A (p.Lys737=) c.108G>A (p.Lys36=) c.2550G>A (p.Lys850=) c.870G>A (p.Lys290=) | ClinVar dbSNP gnomAD v4 |
X | g.108620284G>C | CA413851299 | COL4A5 | c.2535G>C (p.Lys845Asn) n.1991G>C c.2211G>C (p.Lys737Asn) c.108G>C (p.Lys36Asn) c.2550G>C (p.Lys850Asn) c.870G>C (p.Lys290Asn) | |
X | g.108620284G>T | CA413851300 | COL4A5 | c.2535G>T (p.Lys845Asn) n.1991G>T c.2211G>T (p.Lys737Asn) c.108G>T (p.Lys36Asn) c.2550G>T (p.Lys850Asn) c.870G>T (p.Lys290Asn) | |
X | g.108620287_108620288dup | CA658656865 | COL4A5 | c.2538_2539dup (p.Asp847GlyfsTer29) n.1994_1995dup c.2214_2215dup (p.Asp739GlyfsTer29) c.111_112dup (p.Asp38GlyfsTer29) c.2553_2554dup (p.Asp852GlyfsTer29) c.873_874dup (p.Asp292GlyfsTer29) | ClinVar dbSNP |
X | g.108620285G>A | CA413851302 | COL4A5 | c.2536G>A (p.Gly846Arg) n.1992G>A c.2212G>A (p.Gly738Arg) c.109G>A (p.Gly37Arg) c.2551G>A (p.Gly851Arg) c.871G>A (p.Gly291Arg) | |
X | g.108620285G>C | CA413851303 | COL4A5 | c.2536G>C (p.Gly846Arg) n.1992G>C c.2212G>C (p.Gly738Arg) c.109G>C (p.Gly37Arg) c.2551G>C (p.Gly851Arg) c.871G>C (p.Gly291Arg) | |
X | g.108620285G>T | CA413851301 | COL4A5 | c.2536G>T (p.Gly846Trp) n.1992G>T c.2212G>T (p.Gly738Trp) c.109G>T (p.Gly37Trp) c.2551G>T (p.Gly851Trp) c.871G>T (p.Gly291Trp) | |
X | g.108620286G>A | CA413851304 | COL4A5 | c.2537G>A (p.Gly846Glu) n.1993G>A c.2213G>A (p.Gly738Glu) c.110G>A (p.Gly37Glu) c.2552G>A (p.Gly851Glu) c.872G>A (p.Gly291Glu) | ClinVar dbSNP |
X | g.108620286G>C | CA413851305 | COL4A5 | c.2537G>C (p.Gly846Ala) n.1993G>C c.2213G>C (p.Gly738Ala) c.110G>C (p.Gly37Ala) c.2552G>C (p.Gly851Ala) c.872G>C (p.Gly291Ala) | |
X | g.108620286G= | CA2450695934 | COL4A5 | c.2537G= (p.Gly846=) n.1993G= c.2213G= (p.Gly738=) c.110G= (p.Gly37=) c.2552G= (p.Gly851=) c.872G= (p.Gly291=) | |
X | g.108620286G>T | CA413851306 | COL4A5 | c.2537G>T (p.Gly846Val) n.1993G>T c.2213G>T (p.Gly738Val) c.110G>T (p.Gly37Val) c.2552G>T (p.Gly851Val) c.872G>T (p.Gly291Val) | |
X | g.108620287G>A | CA517923973 | COL4A5 | c.2538G>A (p.Gly846=) n.1994G>A c.2214G>A (p.Gly738=) c.111G>A (p.Gly37=) c.2553G>A (p.Gly851=) c.873G>A (p.Gly291=) | ClinVar |
X | g.108620287G>C | CA517923975 | COL4A5 | c.2538G>C (p.Gly846=) n.1994G>C c.2214G>C (p.Gly738=) c.111G>C (p.Gly37=) c.2553G>C (p.Gly851=) c.873G>C (p.Gly291=) | |
X | g.108620287G>T | CA517923977 | COL4A5 | c.2538G>T (p.Gly846=) n.1994G>T c.2214G>T (p.Gly738=) c.111G>T (p.Gly37=) c.2553G>T (p.Gly851=) c.873G>T (p.Gly291=) | |
X | g.108620288G>A | CA413851307 | COL4A5 | c.2539G>A (p.Asp847Asn) n.1995G>A c.2215G>A (p.Asp739Asn) c.112G>A (p.Asp38Asn) c.2554G>A (p.Asp852Asn) c.874G>A (p.Asp292Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
X | g.108620288G>C | CA413851308 | COL4A5 | c.2539G>C (p.Asp847His) n.1995G>C c.2215G>C (p.Asp739His) c.112G>C (p.Asp38His) c.2554G>C (p.Asp852His) c.874G>C (p.Asp292His) | |
X | g.108620288G= | CA2450695935 | COL4A5 | c.2539G= (p.Asp847=) n.1995G= c.2215G= (p.Asp739=) c.112G= (p.Asp38=) c.2554G= (p.Asp852=) c.874G= (p.Asp292=) | |
X | g.108620288G>T | CA413851309 | COL4A5 | c.2539G>T (p.Asp847Tyr) n.1995G>T c.2215G>T (p.Asp739Tyr) c.112G>T (p.Asp38Tyr) c.2554G>T (p.Asp852Tyr) c.874G>T (p.Asp292Tyr) | |
X | g.108620289_108620312del | CA2580100187 | COL4A5 | c.2540_2563del (p.Asp847_Asp854del) n.1996_2019del c.2216_2239del (p.Asp739_Asp746del) c.113_136del (p.Asp38_Asp45del) c.2555_2578del (p.Asp852_Asp859del) c.875_898del (p.Asp292_Asp299del) | ClinVar |
X | g.108620289A>C | CA413851310 | COL4A5 | c.2540A>C (p.Asp847Ala) n.1996A>C c.2216A>C (p.Asp739Ala) c.113A>C (p.Asp38Ala) c.2555A>C (p.Asp852Ala) c.875A>C (p.Asp292Ala) | |
X | g.108620289A>G | CA413851311 | COL4A5 | c.2540A>G (p.Asp847Gly) n.1996A>G c.2216A>G (p.Asp739Gly) c.113A>G (p.Asp38Gly) c.2555A>G (p.Asp852Gly) c.875A>G (p.Asp292Gly) | |
X | g.108620289A>T | CA413851312 | COL4A5 | c.2540A>T (p.Asp847Val) n.1996A>T c.2216A>T (p.Asp739Val) c.113A>T (p.Asp38Val) c.2555A>T (p.Asp852Val) c.875A>T (p.Asp292Val) | |
X | g.108620289dup | CA2695235215 | COL4A5 | c.2540dup (p.Asp847GlufsTer8) n.1996dup c.2216dup (p.Asp739GlufsTer8) c.113dup (p.Asp38GlufsTer8) c.2555dup (p.Asp852GlufsTer8) c.875dup (p.Asp292GlufsTer8) | |
X | g.108620289_108620313delinsATCCAGGACCTCCTGGACTTGATGT | CA2450695936 | COL4A5 | c.2540_2564delinsATCCAGGACCTCCTGGACTTGATGT (p.Asp847=) n.1996_2020delinsATCCAGGACCTCCTGGACTTGATGT c.2216_2240delinsATCCAGGACCTCCTGGACTTGATGT (p.Asp739=) c.113_137delinsATCCAGGACCTCCTGGACTTGATGT (p.Asp38=) c.2555_2579delinsATCCAGGACCTCCTGGACTTGATGT (p.Asp852=) c.875_899delinsATCCAGGACCTCCTGGACTTGATGT (p.Asp292=) | |
X | g.108620290T>A | CA413851313 | COL4A5 | c.2541T>A (p.Asp847Glu) n.1997T>A c.2217T>A (p.Asp739Glu) c.114T>A (p.Asp38Glu) c.2556T>A (p.Asp852Glu) c.876T>A (p.Asp292Glu) | |
X | g.108620290T>C | CA517923984 | COL4A5 | c.2541T>C (p.Asp847=) n.1997T>C c.2217T>C (p.Asp739=) c.114T>C (p.Asp38=) c.2556T>C (p.Asp852=) c.876T>C (p.Asp292=) | |
X | g.108620290T>G | CA413851314 | COL4A5 | c.2541T>G (p.Asp847Glu) n.1997T>G c.2217T>G (p.Asp739Glu) c.114T>G (p.Asp38Glu) c.2556T>G (p.Asp852Glu) c.876T>G (p.Asp292Glu) | |
X | g.108620299_108620322del | CA258704 | COL4A5 | c.2550_2573del (p.Pro851_Pro858del) n.2006_2029del c.2226_2249del (p.Pro743_Pro750del) c.123_146del (p.Pro42_Pro49del) c.2565_2588del (p.Pro856_Pro863del) c.885_908del (p.Pro296_Pro303del) | dbSNP |
X | g.108620291C>A | CA413851317 | COL4A5 | c.2542C>A (p.Pro848Thr) n.1998C>A c.2218C>A (p.Pro740Thr) c.115C>A (p.Pro39Thr) c.2557C>A (p.Pro853Thr) c.877C>A (p.Pro293Thr) | |
X | g.108620291C>G | CA413851316 | COL4A5 | c.2542C>G (p.Pro848Ala) n.1998C>G c.2218C>G (p.Pro740Ala) c.115C>G (p.Pro39Ala) c.2557C>G (p.Pro853Ala) c.877C>G (p.Pro293Ala) | |
X | g.108620291C>T | CA413851315 | COL4A5 | c.2542C>T (p.Pro848Ser) n.1998C>T c.2218C>T (p.Pro740Ser) c.115C>T (p.Pro39Ser) c.2557C>T (p.Pro853Ser) c.877C>T (p.Pro293Ser) | COSMIC COSMIC |
X | g.108620292C>A | CA413851318 | COL4A5 | c.2543C>A (p.Pro848Gln) n.1999C>A c.2219C>A (p.Pro740Gln) c.116C>A (p.Pro39Gln) c.2558C>A (p.Pro853Gln) c.878C>A (p.Pro293Gln) | COSMIC |
X | g.108620292C>G | CA413851319 | COL4A5 | c.2543C>G (p.Pro848Arg) n.1999C>G c.2219C>G (p.Pro740Arg) c.116C>G (p.Pro39Arg) c.2558C>G (p.Pro853Arg) c.878C>G (p.Pro293Arg) | |
X | g.108620292C>T | CA413851320 | COL4A5 | c.2543C>T (p.Pro848Leu) n.1999C>T c.2219C>T (p.Pro740Leu) c.116C>T (p.Pro39Leu) c.2558C>T (p.Pro853Leu) c.878C>T (p.Pro293Leu) | ClinVar |
X | g.108620293A= | CA2450695937 | COL4A5 | c.2544A= (p.Pro848=) n.2000A= c.2220A= (p.Pro740=) c.117A= (p.Pro39=) c.2559A= (p.Pro853=) c.879A= (p.Pro293=) | |
X | g.108620293A>C | CA517923986 | COL4A5 | c.2544A>C (p.Pro848=) n.2000A>C c.2220A>C (p.Pro740=) c.117A>C (p.Pro39=) c.2559A>C (p.Pro853=) c.879A>C (p.Pro293=) | |
X | g.108620293A>G | CA10488942 | COL4A5 | c.2544A>G (p.Pro848=) n.2000A>G c.2220A>G (p.Pro740=) c.117A>G (p.Pro39=) c.2559A>G (p.Pro853=) c.879A>G (p.Pro293=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108620293A>T | CA517923988 | COL4A5 | c.2544A>T (p.Pro848=) n.2000A>T c.2220A>T (p.Pro740=) c.117A>T (p.Pro39=) c.2559A>T (p.Pro853=) c.879A>T (p.Pro293=) | |
X | g.108620294G>A | CA413851321 | COL4A5 | c.2545G>A (p.Gly849Arg) n.2001G>A c.2221G>A (p.Gly741Arg) c.118G>A (p.Gly40Arg) c.2560G>A (p.Gly854Arg) c.880G>A (p.Gly294Arg) | |
X | g.108620294G>C | CA413851322 | COL4A5 | c.2545G>C (p.Gly849Arg) n.2001G>C c.2221G>C (p.Gly741Arg) c.118G>C (p.Gly40Arg) c.2560G>C (p.Gly854Arg) c.880G>C (p.Gly294Arg) | |
X | g.108620294G>T | CA413851323 | COL4A5 | c.2545G>T (p.Gly849Ter) n.2001G>T c.2221G>T (p.Gly741Ter) c.118G>T (p.Gly40Ter) c.2560G>T (p.Gly854Ter) c.880G>T (p.Gly294Ter) | |
X | g.108620295G>A | CA413851325 | COL4A5 | c.2546G>A (p.Gly849Glu) n.2002G>A c.2222G>A (p.Gly741Glu) c.119G>A (p.Gly40Glu) c.2561G>A (p.Gly854Glu) c.881G>A (p.Gly294Glu) | |
X | g.108620295G>C | CA413851326 | COL4A5 | c.2546G>C (p.Gly849Ala) n.2002G>C c.2222G>C (p.Gly741Ala) c.119G>C (p.Gly40Ala) c.2561G>C (p.Gly854Ala) c.881G>C (p.Gly294Ala) | |
X | g.108620295G= | CA2450695938 | COL4A5 | c.2546G= (p.Gly849=) n.2002G= c.2222G= (p.Gly741=) c.119G= (p.Gly40=) c.2561G= (p.Gly854=) c.881G= (p.Gly294=) | |
X | g.108620295G>T | CA413851327 | COL4A5 | c.2546G>T (p.Gly849Val) n.2002G>T c.2222G>T (p.Gly741Val) c.119G>T (p.Gly40Val) c.2561G>T (p.Gly854Val) c.881G>T (p.Gly294Val) | |
X | g.108620296A= | CA2450695939 | COL4A5 | c.2547A= (p.Gly849=) n.2003A= c.2223A= (p.Gly741=) c.120A= (p.Gly40=) c.2562A= (p.Gly854=) c.882A= (p.Gly294=) | |
X | g.108620296A>C | CA517923990 | COL4A5 | c.2547A>C (p.Gly849=) n.2003A>C c.2223A>C (p.Gly741=) c.120A>C (p.Gly40=) c.2562A>C (p.Gly854=) c.882A>C (p.Gly294=) | |
X | g.108620296A>G | CA517923991 | COL4A5 | c.2547A>G (p.Gly849=) n.2003A>G c.2223A>G (p.Gly741=) c.120A>G (p.Gly40=) c.2562A>G (p.Gly854=) c.882A>G (p.Gly294=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.108620296A>T | CA517923994 | COL4A5 | c.2547A>T (p.Gly849=) n.2003A>T c.2223A>T (p.Gly741=) c.120A>T (p.Gly40=) c.2562A>T (p.Gly854=) c.882A>T (p.Gly294=) | ClinVar |
X | g.108620297C>A | CA413851328 | COL4A5 | c.2548C>A (p.Pro850Thr) n.2004C>A c.2224C>A (p.Pro742Thr) c.121C>A (p.Pro41Thr) c.2563C>A (p.Pro855Thr) c.883C>A (p.Pro295Thr) | |
X | g.108620297C= | CA2450695940 | COL4A5 | c.2548C= (p.Pro850=) n.2004C= c.2224C= (p.Pro742=) c.121C= (p.Pro41=) c.2563C= (p.Pro855=) c.883C= (p.Pro295=) | |
X | g.108620297C>G | CA413851329 | COL4A5 | c.2548C>G (p.Pro850Ala) n.2004C>G c.2224C>G (p.Pro742Ala) c.121C>G (p.Pro41Ala) c.2563C>G (p.Pro855Ala) c.883C>G (p.Pro295Ala) | |
X | g.108620297C>T | CA413851330 | COL4A5 | c.2548C>T (p.Pro850Ser) n.2004C>T c.2224C>T (p.Pro742Ser) c.121C>T (p.Pro41Ser) c.2563C>T (p.Pro855Ser) c.883C>T (p.Pro295Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108620298C>A | CA413851332 | COL4A5 | c.2549C>A (p.Pro850His) n.2005C>A c.2225C>A (p.Pro742His) c.122C>A (p.Pro41His) c.2564C>A (p.Pro855His) c.884C>A (p.Pro295His) | |
X | g.108620298C>G | CA413851333 | COL4A5 | c.2549C>G (p.Pro850Arg) n.2005C>G c.2225C>G (p.Pro742Arg) c.122C>G (p.Pro41Arg) c.2564C>G (p.Pro855Arg) c.884C>G (p.Pro295Arg) | |
X | g.108620298C>T | CA413851331 | COL4A5 | c.2549C>T (p.Pro850Leu) n.2005C>T c.2225C>T (p.Pro742Leu) c.122C>T (p.Pro41Leu) c.2564C>T (p.Pro855Leu) c.884C>T (p.Pro295Leu) | |
X | g.108620299T>A | CA517923997 | COL4A5 | c.2550T>A (p.Pro850=) n.2006T>A c.2226T>A (p.Pro742=) c.123T>A (p.Pro41=) c.2565T>A (p.Pro855=) c.885T>A (p.Pro295=) | |
X | g.108620299T>C | CA517923998 | COL4A5 | c.2550T>C (p.Pro850=) n.2006T>C c.2226T>C (p.Pro742=) c.123T>C (p.Pro41=) c.2565T>C (p.Pro855=) c.885T>C (p.Pro295=) | |
X | g.108620299T>G | CA517924000 | COL4A5 | c.2550T>G (p.Pro850=) n.2006T>G c.2226T>G (p.Pro742=) c.123T>G (p.Pro41=) c.2565T>G (p.Pro855=) c.885T>G (p.Pro295=) | |
X | g.108620300C>A | CA413851336 | COL4A5 | c.2551C>A (p.Pro851Thr) n.2007C>A c.2227C>A (p.Pro743Thr) c.124C>A (p.Pro42Thr) c.2566C>A (p.Pro856Thr) c.886C>A (p.Pro296Thr) | |
X | g.108620300C>G | CA413851334 | COL4A5 | c.2551C>G (p.Pro851Ala) n.2007C>G c.2227C>G (p.Pro743Ala) c.124C>G (p.Pro42Ala) c.2566C>G (p.Pro856Ala) c.886C>G (p.Pro296Ala) | |
X | g.108620300C>T | CA413851335 | COL4A5 | c.2551C>T (p.Pro851Ser) n.2007C>T c.2227C>T (p.Pro743Ser) c.124C>T (p.Pro42Ser) c.2566C>T (p.Pro856Ser) c.886C>T (p.Pro296Ser) | COSMIC COSMIC |
X | g.108620301C>A | CA413851337 | COL4A5 | c.2552C>A (p.Pro851His) n.2008C>A c.2228C>A (p.Pro743His) c.125C>A (p.Pro42His) c.2567C>A (p.Pro856His) c.887C>A (p.Pro296His) | |
X | g.108620301C= | CA2450695941 | COL4A5 | c.2552C= (p.Pro851=) n.2008C= c.2228C= (p.Pro743=) c.125C= (p.Pro42=) c.2567C= (p.Pro856=) c.887C= (p.Pro296=) | |
X | g.108620301C>G | CA413851338 | COL4A5 | c.2552C>G (p.Pro851Arg) n.2008C>G c.2228C>G (p.Pro743Arg) c.125C>G (p.Pro42Arg) c.2567C>G (p.Pro856Arg) c.887C>G (p.Pro296Arg) | dbSNP gnomAD v4 COSMIC COSMIC |
X | g.108620301C>T | CA413851339 | COL4A5 | c.2552C>T (p.Pro851Leu) n.2008C>T c.2228C>T (p.Pro743Leu) c.125C>T (p.Pro42Leu) c.2567C>T (p.Pro856Leu) c.887C>T (p.Pro296Leu) | |
X | g.108620302T>A | CA517924007 | COL4A5 | c.2553T>A (p.Pro851=) n.2009T>A c.2229T>A (p.Pro743=) c.126T>A (p.Pro42=) c.2568T>A (p.Pro856=) c.888T>A (p.Pro296=) | |
X | g.108620302T>C | CA517924011 | COL4A5 | c.2553T>C (p.Pro851=) n.2009T>C c.2229T>C (p.Pro743=) c.126T>C (p.Pro42=) c.2568T>C (p.Pro856=) c.888T>C (p.Pro296=) | |
X | g.108620302T>G | CA517924009 | COL4A5 | c.2553T>G (p.Pro851=) n.2009T>G c.2229T>G (p.Pro743=) c.126T>G (p.Pro42=) c.2568T>G (p.Pro856=) c.888T>G (p.Pro296=) | |
X | g.108620303G>A | CA258707 | COL4A5 | c.2554G>A (p.Gly852Arg) n.2010G>A c.2230G>A (p.Gly744Arg) c.127G>A (p.Gly43Arg) c.2569G>A (p.Gly857Arg) c.889G>A (p.Gly297Arg) | ClinVar dbSNP |
X | g.108620303G>C | CA413851341 | COL4A5 | c.2554G>C (p.Gly852Arg) n.2010G>C c.2230G>C (p.Gly744Arg) c.127G>C (p.Gly43Arg) c.2569G>C (p.Gly857Arg) c.889G>C (p.Gly297Arg) | |
X | g.108620303G= | CA2450695942 | COL4A5 | c.2554G= (p.Gly852=) n.2010G= c.2230G= (p.Gly744=) c.127G= (p.Gly43=) c.2569G= (p.Gly857=) c.889G= (p.Gly297=) | |
X | g.108620303G>T | CA413851340 | COL4A5 | c.2554G>T (p.Gly852Ter) n.2010G>T c.2230G>T (p.Gly744Ter) c.127G>T (p.Gly43Ter) c.2569G>T (p.Gly857Ter) c.889G>T (p.Gly297Ter) | |
X | g.108620304dup | CA2841796860 | COL4A5 | c.2555dup (p.Leu853ThrfsTer2) n.2011dup c.2231dup (p.Leu745ThrfsTer2) c.128dup (p.Leu44ThrfsTer2) c.2570dup (p.Leu858ThrfsTer2) c.890dup (p.Leu298ThrfsTer2) | |
X | g.108620304G>A | CA258709 | COL4A5 | c.2555G>A (p.Gly852Glu) n.2011G>A c.2231G>A (p.Gly744Glu) c.128G>A (p.Gly43Glu) c.2570G>A (p.Gly857Glu) c.890G>A (p.Gly297Glu) | ClinVar dbSNP |
X | g.108620304G>C | CA413851342 | COL4A5 | c.2555G>C (p.Gly852Ala) n.2011G>C c.2231G>C (p.Gly744Ala) c.128G>C (p.Gly43Ala) c.2570G>C (p.Gly857Ala) c.890G>C (p.Gly297Ala) | |
X | g.108620304G= | CA2450695943 | COL4A5 | c.2555G= (p.Gly852=) n.2011G= c.2231G= (p.Gly744=) c.128G= (p.Gly43=) c.2570G= (p.Gly857=) c.890G= (p.Gly297=) | |
X | g.108620304G>T | CA413851343 | COL4A5 | c.2555G>T (p.Gly852Val) n.2011G>T c.2231G>T (p.Gly744Val) c.128G>T (p.Gly43Val) c.2570G>T (p.Gly857Val) c.890G>T (p.Gly297Val) | |
X | g.108620305A>C | CA517924019 | COL4A5 | c.2556A>C (p.Gly852=) n.2012A>C c.2232A>C (p.Gly744=) c.129A>C (p.Gly43=) c.2571A>C (p.Gly857=) c.891A>C (p.Gly297=) | |
X | g.108620305A>G | CA517924020 | COL4A5 | c.2556A>G (p.Gly852=) n.2012A>G c.2232A>G (p.Gly744=) c.129A>G (p.Gly43=) c.2571A>G (p.Gly857=) c.891A>G (p.Gly297=) | |
X | g.108620305A>T | CA517924021 | COL4A5 | c.2556A>T (p.Gly852=) n.2012A>T c.2232A>T (p.Gly744=) c.129A>T (p.Gly43=) c.2571A>T (p.Gly857=) c.891A>T (p.Gly297=) | |
X | g.108620306C>A | CA413851344 | COL4A5 | c.2557C>A (p.Leu853Ile) n.2013C>A c.2233C>A (p.Leu745Ile) c.130C>A (p.Leu44Ile) c.2572C>A (p.Leu858Ile) c.892C>A (p.Leu298Ile) | |
X | g.108620306C>G | CA413851345 | COL4A5 | c.2557C>G (p.Leu853Val) n.2013C>G c.2233C>G (p.Leu745Val) c.130C>G (p.Leu44Val) c.2572C>G (p.Leu858Val) c.892C>G (p.Leu298Val) | |
X | g.108620306C>T | CA413851346 | COL4A5 | c.2557C>T (p.Leu853Phe) n.2013C>T c.2233C>T (p.Leu745Phe) c.130C>T (p.Leu44Phe) c.2572C>T (p.Leu858Phe) c.892C>T (p.Leu298Phe) | gnomAD v4 |
X | g.108620307T>A | CA413851349 | COL4A5 | c.2558T>A (p.Leu853His) n.2014T>A c.2234T>A (p.Leu745His) c.131T>A (p.Leu44His) c.2573T>A (p.Leu858His) c.893T>A (p.Leu298His) | COSMIC COSMIC |
X | g.108620307T>C | CA413851347 | COL4A5 | c.2558T>C (p.Leu853Pro) n.2014T>C c.2234T>C (p.Leu745Pro) c.131T>C (p.Leu44Pro) c.2573T>C (p.Leu858Pro) c.893T>C (p.Leu298Pro) | |
X | g.108620307T>G | CA413851348 | COL4A5 | c.2558T>G (p.Leu853Arg) n.2014T>G c.2234T>G (p.Leu745Arg) c.131T>G (p.Leu44Arg) c.2573T>G (p.Leu858Arg) c.893T>G (p.Leu298Arg) | dbSNP |
X | g.108620307T= | CA2450695944 | COL4A5 | c.2558T= (p.Leu853=) n.2014T= c.2234T= (p.Leu745=) c.131T= (p.Leu44=) c.2573T= (p.Leu858=) c.893T= (p.Leu298=) | |
X | g.108620308T>A | CA517924029 | COL4A5 | c.2559T>A (p.Leu853=) n.2015T>A c.2235T>A (p.Leu745=) c.132T>A (p.Leu44=) c.2574T>A (p.Leu858=) c.894T>A (p.Leu298=) | |
X | g.108620308T>C | CA517924033 | COL4A5 | c.2559T>C (p.Leu853=) n.2015T>C c.2235T>C (p.Leu745=) c.132T>C (p.Leu44=) c.2574T>C (p.Leu858=) c.894T>C (p.Leu298=) | ClinVar |
X | g.108620308T>G | CA517924031 | COL4A5 | c.2559T>G (p.Leu853=) n.2015T>G c.2235T>G (p.Leu745=) c.132T>G (p.Leu44=) c.2574T>G (p.Leu858=) c.894T>G (p.Leu298=) | |
X | g.108620309G>A | CA413851350 | COL4A5 | c.2560G>A (p.Asp854Asn) n.2016G>A c.2236G>A (p.Asp746Asn) c.133G>A (p.Asp45Asn) c.2575G>A (p.Asp859Asn) c.895G>A (p.Asp299Asn) | |
X | g.108620309G>C | CA413851351 | COL4A5 | c.2560G>C (p.Asp854His) n.2016G>C c.2236G>C (p.Asp746His) c.133G>C (p.Asp45His) c.2575G>C (p.Asp859His) c.895G>C (p.Asp299His) | |
X | g.108620309G>T | CA413851352 | COL4A5 | c.2560G>T (p.Asp854Tyr) n.2016G>T c.2236G>T (p.Asp746Tyr) c.133G>T (p.Asp45Tyr) c.2575G>T (p.Asp859Tyr) c.895G>T (p.Asp299Tyr) | |
X | g.108620310A= | CA2450695945 | COL4A5 | c.2561A= (p.Asp854=) n.2017A= c.2237A= (p.Asp746=) c.134A= (p.Asp45=) c.2576A= (p.Asp859=) c.896A= (p.Asp299=) | |
X | g.108620310A>C | CA413851353 | COL4A5 | c.2561A>C (p.Asp854Ala) n.2017A>C c.2237A>C (p.Asp746Ala) c.134A>C (p.Asp45Ala) c.2576A>C (p.Asp859Ala) c.896A>C (p.Asp299Ala) | |
X | g.108620310A>G | CA10488943 | COL4A5 | c.2561A>G (p.Asp854Gly) n.2017A>G c.2237A>G (p.Asp746Gly) c.134A>G (p.Asp45Gly) c.2576A>G (p.Asp859Gly) c.896A>G (p.Asp299Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108620310A>T | CA413851354 | COL4A5 | c.2561A>T (p.Asp854Val) n.2017A>T c.2237A>T (p.Asp746Val) c.134A>T (p.Asp45Val) c.2576A>T (p.Asp859Val) c.896A>T (p.Asp299Val) | |
X | g.108620311T>A | CA413851355 | COL4A5 | c.2562T>A (p.Asp854Glu) n.2018T>A c.2238T>A (p.Asp746Glu) c.135T>A (p.Asp45Glu) c.2577T>A (p.Asp859Glu) c.897T>A (p.Asp299Glu) | |
X | g.108620311T>C | CA10488944 | COL4A5 | c.2562T>C (p.Asp854=) n.2018T>C c.2238T>C (p.Asp746=) c.135T>C (p.Asp45=) c.2577T>C (p.Asp859=) c.897T>C (p.Asp299=) | dbSNP ExAC gnomAD v4 |
X | g.108620311T>G | CA413851356 | COL4A5 | c.2562T>G (p.Asp854Glu) n.2018T>G c.2238T>G (p.Asp746Glu) c.135T>G (p.Asp45Glu) c.2577T>G (p.Asp859Glu) c.897T>G (p.Asp299Glu) | |
X | g.108620311T= | CA2450695946 | COL4A5 | c.2562T= (p.Asp854=) n.2018T= c.2238T= (p.Asp746=) c.135T= (p.Asp45=) c.2577T= (p.Asp859=) c.897T= (p.Asp299=) | |
X | g.108620312G>A | CA413851357 | COL4A5 | c.2563G>A (p.Val855Ile) n.2019G>A c.2239G>A (p.Val747Ile) c.136G>A (p.Val46Ile) c.2578G>A (p.Val860Ile) c.898G>A (p.Val300Ile) | |
X | g.108620312G>C | CA413851358 | COL4A5 | c.2563G>C (p.Val855Leu) n.2019G>C c.2239G>C (p.Val747Leu) c.136G>C (p.Val46Leu) c.2578G>C (p.Val860Leu) c.898G>C (p.Val300Leu) | |
X | g.108620312G>T | CA413851359 | COL4A5 | c.2563G>T (p.Val855Phe) n.2019G>T c.2239G>T (p.Val747Phe) c.136G>T (p.Val46Phe) c.2578G>T (p.Val860Phe) c.898G>T (p.Val300Phe) | |
X | g.108620313T>A | CA413851360 | COL4A5 | c.2564T>A (p.Val855Asp) n.2020T>A c.2240T>A (p.Val747Asp) c.137T>A (p.Val46Asp) c.2579T>A (p.Val860Asp) c.899T>A (p.Val300Asp) | |
X | g.108620313T>C | CA413851362 | COL4A5 | c.2564T>C (p.Val855Ala) n.2020T>C c.2240T>C (p.Val747Ala) c.137T>C (p.Val46Ala) c.2579T>C (p.Val860Ala) c.899T>C (p.Val300Ala) | |
X | g.108620313T>G | CA413851361 | COL4A5 | c.2564T>G (p.Val855Gly) n.2020T>G c.2240T>G (p.Val747Gly) c.137T>G (p.Val46Gly) c.2579T>G (p.Val860Gly) c.899T>G (p.Val300Gly) | |
X | g.108620314T>A | CA517924042 | COL4A5 | c.2565T>A (p.Val855=) n.2021T>A c.2241T>A (p.Val747=) c.138T>A (p.Val46=) c.2580T>A (p.Val860=) c.900T>A (p.Val300=) | |
X | g.108620314T>C | CA517924044 | COL4A5 | c.2565T>C (p.Val855=) n.2021T>C c.2241T>C (p.Val747=) c.138T>C (p.Val46=) c.2580T>C (p.Val860=) c.900T>C (p.Val300=) | |
X | g.108620314T>G | CA517924045 | COL4A5 | c.2565T>G (p.Val855=) n.2021T>G c.2241T>G (p.Val747=) c.138T>G (p.Val46=) c.2580T>G (p.Val860=) c.900T>G (p.Val300=) | |
X | g.108620315C>A | CA413851363 | COL4A5 | c.2566C>A (p.Pro856Thr) n.2022C>A c.2242C>A (p.Pro748Thr) c.139C>A (p.Pro47Thr) c.2581C>A (p.Pro861Thr) c.901C>A (p.Pro301Thr) | |
X | g.108620315C>G | CA413851364 | COL4A5 | c.2566C>G (p.Pro856Ala) n.2022C>G c.2242C>G (p.Pro748Ala) c.139C>G (p.Pro47Ala) c.2581C>G (p.Pro861Ala) c.901C>G (p.Pro301Ala) | |
X | g.108620315C>T | CA413851365 | COL4A5 | c.2566C>T (p.Pro856Ser) n.2022C>T c.2242C>T (p.Pro748Ser) c.139C>T (p.Pro47Ser) c.2581C>T (p.Pro861Ser) c.901C>T (p.Pro301Ser) | |
X | g.108620316del | CA2695235216 | COL4A5 | c.2567del (p.Pro856GlnfsTer19) n.2023del c.2243del (p.Pro748GlnfsTer19) c.140del (p.Pro47GlnfsTer19) c.2582del (p.Pro861GlnfsTer19) c.902del (p.Pro301GlnfsTer19) | |
X | g.108620316C>A | CA413851366 | COL4A5 | c.2567C>A (p.Pro856Gln) n.2023C>A c.2243C>A (p.Pro748Gln) c.140C>A (p.Pro47Gln) c.2582C>A (p.Pro861Gln) c.902C>A (p.Pro301Gln) | |
X | g.108620316C= | CA2450695947 | COL4A5 | c.2567C= (p.Pro856=) n.2023C= c.2243C= (p.Pro748=) c.140C= (p.Pro47=) c.2582C= (p.Pro861=) c.902C= (p.Pro301=) | |
X | g.108620316C>G | CA413851367 | COL4A5 | c.2567C>G (p.Pro856Arg) n.2023C>G c.2243C>G (p.Pro748Arg) c.140C>G (p.Pro47Arg) c.2582C>G (p.Pro861Arg) c.902C>G (p.Pro301Arg) | |
X | g.108620316C>T | CA413851368 | COL4A5 | c.2567C>T (p.Pro856Leu) n.2023C>T c.2243C>T (p.Pro748Leu) c.140C>T (p.Pro47Leu) c.2582C>T (p.Pro861Leu) c.902C>T (p.Pro301Leu) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108620317A>C | CA517924056 | COL4A5 | c.2568A>C (p.Pro856=) n.2024A>C c.2244A>C (p.Pro748=) c.141A>C (p.Pro47=) c.2583A>C (p.Pro861=) c.903A>C (p.Pro301=) | |
X | g.108620317A>G | CA517924052 | COL4A5 | c.2568A>G (p.Pro856=) n.2024A>G c.2244A>G (p.Pro748=) c.141A>G (p.Pro47=) c.2583A>G (p.Pro861=) c.903A>G (p.Pro301=) | gnomAD v4 |
X | g.108620317A>T | CA517924053 | COL4A5 | c.2568A>T (p.Pro856=) n.2024A>T c.2244A>T (p.Pro748=) c.141A>T (p.Pro47=) c.2583A>T (p.Pro861=) c.903A>T (p.Pro301=) | |
X | g.108620318G>A | CA413851369 | COL4A5 | c.2569G>A (p.Gly857Arg) n.2025G>A c.2245G>A (p.Gly749Arg) c.142G>A (p.Gly48Arg) c.2584G>A (p.Gly862Arg) c.904G>A (p.Gly302Arg) | |
X | g.108620318G>C | CA413851370 | COL4A5 | c.2569G>C (p.Gly857Arg) n.2025G>C c.2245G>C (p.Gly749Arg) c.142G>C (p.Gly48Arg) c.2584G>C (p.Gly862Arg) c.904G>C (p.Gly302Arg) | |
X | g.108620318G>T | CA413851371 | COL4A5 | c.2569G>T (p.Gly857Ter) n.2025G>T c.2245G>T (p.Gly749Ter) c.142G>T (p.Gly48Ter) c.2584G>T (p.Gly862Ter) c.904G>T (p.Gly302Ter) | |
X | g.108620319G>A | CA413851372 | COL4A5 | c.2570G>A (p.Gly857Glu) n.2026G>A c.2246G>A (p.Gly749Glu) c.143G>A (p.Gly48Glu) c.2585G>A (p.Gly862Glu) c.905G>A (p.Gly302Glu) | |
X | g.108620319G>C | CA413851373 | COL4A5 | c.2570G>C (p.Gly857Ala) n.2026G>C c.2246G>C (p.Gly749Ala) c.143G>C (p.Gly48Ala) c.2585G>C (p.Gly862Ala) c.905G>C (p.Gly302Ala) | |
X | g.108620319G>T | CA413851374 | COL4A5 | c.2570G>T (p.Gly857Val) n.2026G>T c.2246G>T (p.Gly749Val) c.143G>T (p.Gly48Val) c.2585G>T (p.Gly862Val) c.905G>T (p.Gly302Val) | |
X | g.108620320A= | CA2450695948 | COL4A5 | c.2571A= (p.Gly857=) n.2027A= c.2247A= (p.Gly749=) c.144A= (p.Gly48=) c.2586A= (p.Gly862=) c.906A= (p.Gly302=) | |
X | g.108620320A>C | CA517924060 | COL4A5 | c.2571A>C (p.Gly857=) n.2027A>C c.2247A>C (p.Gly749=) c.144A>C (p.Gly48=) c.2586A>C (p.Gly862=) c.906A>C (p.Gly302=) | |
X | g.108620320A>G | CA10488945 | COL4A5 | c.2571A>G (p.Gly857=) n.2027A>G c.2247A>G (p.Gly749=) c.144A>G (p.Gly48=) c.2586A>G (p.Gly862=) c.906A>G (p.Gly302=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108620320A>T | CA517924061 | COL4A5 | c.2571A>T (p.Gly857=) n.2027A>T c.2247A>T (p.Gly749=) c.144A>T (p.Gly48=) c.2586A>T (p.Gly862=) c.906A>T (p.Gly302=) | |
X | g.108620321C>A | CA10488946 | COL4A5 | c.2572C>A (p.Pro858Thr) n.2028C>A c.2248C>A (p.Pro750Thr) c.145C>A (p.Pro49Thr) c.2587C>A (p.Pro863Thr) c.907C>A (p.Pro303Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108620321C= | CA2450695949 | COL4A5 | c.2572C= (p.Pro858=) n.2028C= c.2248C= (p.Pro750=) c.145C= (p.Pro49=) c.2587C= (p.Pro863=) c.907C= (p.Pro303=) | |
X | g.108620321C>G | CA413851376 | COL4A5 | c.2572C>G (p.Pro858Ala) n.2028C>G c.2248C>G (p.Pro750Ala) c.145C>G (p.Pro49Ala) c.2587C>G (p.Pro863Ala) c.907C>G (p.Pro303Ala) | |
X | g.108620321C>T | CA413851375 | COL4A5 | c.2572C>T (p.Pro858Ser) n.2028C>T c.2248C>T (p.Pro750Ser) c.145C>T (p.Pro49Ser) c.2587C>T (p.Pro863Ser) c.907C>T (p.Pro303Ser) | |
X | g.108620325del | CA2579676515 | COL4A5 | c.2576del (p.Pro859GlnfsTer16) n.2032del c.2252del (p.Pro751GlnfsTer16) c.149del (p.Pro50GlnfsTer16) c.2591del (p.Pro864GlnfsTer16) c.911del (p.Pro304GlnfsTer16) | ClinVar |
X | g.108620322C>A | CA413851377 | COL4A5 | c.2573C>A (p.Pro858His) n.2029C>A c.2249C>A (p.Pro750His) c.146C>A (p.Pro49His) c.2588C>A (p.Pro863His) c.908C>A (p.Pro303His) | |
X | g.108620322C= | CA2450695950 | COL4A5 | c.2573C= (p.Pro858=) n.2029C= c.2249C= (p.Pro750=) c.146C= (p.Pro49=) c.2588C= (p.Pro863=) c.908C= (p.Pro303=) | |
X | g.108620322C>G | CA10488947 | COL4A5 | c.2573C>G (p.Pro858Arg) n.2029C>G c.2249C>G (p.Pro750Arg) c.146C>G (p.Pro49Arg) c.2588C>G (p.Pro863Arg) c.908C>G (p.Pro303Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108620322C>T | CA413851378 | COL4A5 | c.2573C>T (p.Pro858Leu) n.2029C>T c.2249C>T (p.Pro750Leu) c.146C>T (p.Pro49Leu) c.2588C>T (p.Pro863Leu) c.908C>T (p.Pro303Leu) | |
X | g.108620323C>A | CA517924069 | COL4A5 | c.2574C>A (p.Pro858=) n.2030C>A c.2250C>A (p.Pro750=) c.147C>A (p.Pro49=) c.2589C>A (p.Pro863=) c.909C>A (p.Pro303=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.108620323C= | CA2450695951 | COL4A5 | c.2574C= (p.Pro858=) n.2030C= c.2250C= (p.Pro750=) c.147C= (p.Pro49=) c.2589C= (p.Pro863=) c.909C= (p.Pro303=) | |
X | g.108620323C>G | CA10488948 | COL4A5 | c.2574C>G (p.Pro858=) n.2030C>G c.2250C>G (p.Pro750=) c.147C>G (p.Pro49=) c.2589C>G (p.Pro863=) c.909C>G (p.Pro303=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108620323C>T | CA517924070 | COL4A5 | c.2574C>T (p.Pro858=) n.2030C>T c.2250C>T (p.Pro750=) c.147C>T (p.Pro49=) c.2589C>T (p.Pro863=) c.909C>T (p.Pro303=) | |
X | g.108620324C>A | CA413851379 | COL4A5 | c.2575C>A (p.Pro859Thr) n.2031C>A c.2251C>A (p.Pro751Thr) c.148C>A (p.Pro50Thr) c.2590C>A (p.Pro864Thr) c.910C>A (p.Pro304Thr) | |
X | g.108620324C>G | CA413851380 | COL4A5 | c.2575C>G (p.Pro859Ala) n.2031C>G c.2251C>G (p.Pro751Ala) c.148C>G (p.Pro50Ala) c.2590C>G (p.Pro864Ala) c.910C>G (p.Pro304Ala) | gnomAD v4 |
X | g.108620324C>T | CA413851381 | COL4A5 | c.2575C>T (p.Pro859Ser) n.2031C>T c.2251C>T (p.Pro751Ser) c.148C>T (p.Pro50Ser) c.2590C>T (p.Pro864Ser) c.910C>T (p.Pro304Ser) | gnomAD v4 |
X | g.108620325C>A | CA413851382 | COL4A5 | c.2576C>A (p.Pro859Gln) n.2032C>A c.2252C>A (p.Pro751Gln) c.149C>A (p.Pro50Gln) c.2591C>A (p.Pro864Gln) c.911C>A (p.Pro304Gln) | |
X | g.108620325C>G | CA413851383 | COL4A5 | c.2576C>G (p.Pro859Arg) n.2032C>G c.2252C>G (p.Pro751Arg) c.149C>G (p.Pro50Arg) c.2591C>G (p.Pro864Arg) c.911C>G (p.Pro304Arg) | |
X | g.108620325C>T | CA413851384 | COL4A5 | c.2576C>T (p.Pro859Leu) n.2032C>T c.2252C>T (p.Pro751Leu) c.149C>T (p.Pro50Leu) c.2591C>T (p.Pro864Leu) c.911C>T (p.Pro304Leu) | ClinVar |
X | g.108620326A>C | CA517924074 | COL4A5 | c.2577A>C (p.Pro859=) n.2033A>C c.2253A>C (p.Pro751=) c.150A>C (p.Pro50=) c.2592A>C (p.Pro864=) c.912A>C (p.Pro304=) | |
X | g.108620326A>G | CA517924075 | COL4A5 | c.2577A>G (p.Pro859=) n.2033A>G c.2253A>G (p.Pro751=) c.150A>G (p.Pro50=) c.2592A>G (p.Pro864=) c.912A>G (p.Pro304=) | ClinVar gnomAD v4 |
X | g.108620326A>T | CA517924076 | COL4A5 | c.2577A>T (p.Pro859=) n.2033A>T c.2253A>T (p.Pro751=) c.150A>T (p.Pro50=) c.2592A>T (p.Pro864=) c.912A>T (p.Pro304=) | |
X | g.108620327G>A | CA413851386 | COL4A5 | c.2578G>A (p.Gly860Ser) n.2034G>A c.2254G>A (p.Gly752Ser) c.151G>A (p.Gly51Ser) c.2593G>A (p.Gly865Ser) c.913G>A (p.Gly305Ser) | |
X | g.108620327G>C | CA258711 | COL4A5 | c.2578G>C (p.Gly860Arg) n.2034G>C c.2254G>C (p.Gly752Arg) c.151G>C (p.Gly51Arg) c.2593G>C (p.Gly865Arg) c.913G>C (p.Gly305Arg) | dbSNP |
X | g.108620327G= | CA2450695952 | COL4A5 | c.2578G= (p.Gly860=) n.2034G= c.2254G= (p.Gly752=) c.151G= (p.Gly51=) c.2593G= (p.Gly865=) c.913G= (p.Gly305=) | |
X | g.108620327G>T | CA413851385 | COL4A5 | c.2578G>T (p.Gly860Cys) n.2034G>T c.2254G>T (p.Gly752Cys) c.151G>T (p.Gly51Cys) c.2593G>T (p.Gly865Cys) c.913G>T (p.Gly305Cys) | |
X | g.108620328G>A | CA413851389 | COL4A5 | c.2579G>A (p.Gly860Asp) n.2035G>A c.2255G>A (p.Gly752Asp) c.152G>A (p.Gly51Asp) c.2594G>A (p.Gly865Asp) c.914G>A (p.Gly305Asp) | ClinVar dbSNP |
X | g.108620328G>C | CA413851387 | COL4A5 | c.2579G>C (p.Gly860Ala) n.2035G>C c.2255G>C (p.Gly752Ala) c.152G>C (p.Gly51Ala) c.2594G>C (p.Gly865Ala) c.914G>C (p.Gly305Ala) | |
X | g.108620328G= | CA2450695953 | COL4A5 | c.2579G= (p.Gly860=) n.2035G= c.2255G= (p.Gly752=) c.152G= (p.Gly51=) c.2594G= (p.Gly865=) c.914G= (p.Gly305=) | |
X | g.108620328G>T | CA413851388 | COL4A5 | c.2579G>T (p.Gly860Val) n.2035G>T c.2255G>T (p.Gly752Val) c.152G>T (p.Gly51Val) c.2594G>T (p.Gly865Val) c.914G>T (p.Gly305Val) | |
X | g.108620329T>A | CA517924083 | COL4A5 | c.2580T>A (p.Gly860=) n.2036T>A c.2256T>A (p.Gly752=) c.153T>A (p.Gly51=) c.2595T>A (p.Gly865=) c.915T>A (p.Gly305=) | |
X | g.108620329T>C | CA517924084 | COL4A5 | c.2580T>C (p.Gly860=) n.2036T>C c.2256T>C (p.Gly752=) c.153T>C (p.Gly51=) c.2595T>C (p.Gly865=) c.915T>C (p.Gly305=) | ClinVar dbSNP |
X | g.108620329T>G | CA334048993 | COL4A5 | c.2580T>G (p.Gly860=) n.2036T>G c.2256T>G (p.Gly752=) c.153T>G (p.Gly51=) c.2595T>G (p.Gly865=) c.915T>G (p.Gly305=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108620329T= | CA2450695954 | COL4A5 | c.2580T= (p.Gly860=) n.2036T= c.2256T= (p.Gly752=) c.153T= (p.Gly51=) c.2595T= (p.Gly865=) c.915T= (p.Gly305=) | |
X | g.108620330G>A | CA413851390 | COL4A5 | c.2581G>A (p.Glu861Lys) n.2037G>A c.2257G>A (p.Glu753Lys) c.154G>A (p.Glu52Lys) c.2596G>A (p.Glu866Lys) c.916G>A (p.Glu306Lys) | |
X | g.108620330G>C | CA413851391 | COL4A5 | c.2581G>C (p.Glu861Gln) n.2037G>C c.2257G>C (p.Glu753Gln) c.154G>C (p.Glu52Gln) c.2596G>C (p.Glu866Gln) c.916G>C (p.Glu306Gln) | |
X | g.108620330G>T | CA413851392 | COL4A5 | c.2581G>T (p.Glu861Ter) n.2037G>T c.2257G>T (p.Glu753Ter) c.154G>T (p.Glu52Ter) c.2596G>T (p.Glu866Ter) c.916G>T (p.Glu306Ter) | |
X | g.108620331A>C | CA413851393 | COL4A5 | c.2582A>C (p.Glu861Ala) n.2038A>C c.2258A>C (p.Glu753Ala) c.155A>C (p.Glu52Ala) c.2597A>C (p.Glu866Ala) c.917A>C (p.Glu306Ala) | |
X | g.108620331A>G | CA413851394 | COL4A5 | c.2582A>G (p.Glu861Gly) n.2038A>G c.2258A>G (p.Glu753Gly) c.155A>G (p.Glu52Gly) c.2597A>G (p.Glu866Gly) c.917A>G (p.Glu306Gly) | gnomAD v4 |
X | g.108620331A>T | CA413851395 | COL4A5 | c.2582A>T (p.Glu861Val) n.2038A>T c.2258A>T (p.Glu753Val) c.155A>T (p.Glu52Val) c.2597A>T (p.Glu866Val) c.917A>T (p.Glu306Val) | |
X | g.108620332A>C | CA413851396 | COL4A5 | c.2583A>C (p.Glu861Asp) n.2039A>C c.2259A>C (p.Glu753Asp) c.156A>C (p.Glu52Asp) c.2598A>C (p.Glu866Asp) c.918A>C (p.Glu306Asp) | |
X | g.108620332A>G | CA517924092 | COL4A5 | c.2583A>G (p.Glu861=) n.2039A>G c.2259A>G (p.Glu753=) c.156A>G (p.Glu52=) c.2598A>G (p.Glu866=) c.918A>G (p.Glu306=) | dbSNP COSMIC COSMIC |
X | g.108620332A>T | CA413851397 | COL4A5 | c.2583A>T (p.Glu861Asp) n.2039A>T c.2259A>T (p.Glu753Asp) c.156A>T (p.Glu52Asp) c.2598A>T (p.Glu866Asp) c.918A>T (p.Glu306Asp) | |
X | g.108620333A= | CA2450695955 | COL4A5 | c.2584A= (p.Arg862=) n.2040A= c.2260A= (p.Arg754=) c.157A= (p.Arg53=) c.2599A= (p.Arg867=) c.919A= (p.Arg307=) | |
X | g.108620333A>C | CA517924093 | COL4A5 | c.2584A>C (p.Arg862=) n.2040A>C c.2260A>C (p.Arg754=) c.157A>C (p.Arg53=) c.2599A>C (p.Arg867=) c.919A>C (p.Arg307=) | |
X | g.108620333A>G | CA413851398 | COL4A5 | c.2584A>G (p.Arg862Gly) n.2040A>G c.2260A>G (p.Arg754Gly) c.157A>G (p.Arg53Gly) c.2599A>G (p.Arg867Gly) c.919A>G (p.Arg307Gly) | dbSNP gnomAD v4 |
X | g.108620333A>T | CA413851399 | COL4A5 | c.2584A>T (p.Arg862Ter) n.2040A>T c.2260A>T (p.Arg754Ter) c.157A>T (p.Arg53Ter) c.2599A>T (p.Arg867Ter) c.919A>T (p.Arg307Ter) | |
X | g.108620334G>A | CA413851402 | COL4A5 | c.2585G>A (p.Arg862Lys) n.2041G>A c.2261G>A (p.Arg754Lys) c.158G>A (p.Arg53Lys) c.2600G>A (p.Arg867Lys) c.920G>A (p.Arg307Lys) | |
X | g.108620334G>C | CA413851400 | COL4A5 | c.2585G>C (p.Arg862Thr) n.2041G>C c.2261G>C (p.Arg754Thr) c.158G>C (p.Arg53Thr) c.2600G>C (p.Arg867Thr) c.920G>C (p.Arg307Thr) | |
X | g.108620334G>T | CA413851401 | COL4A5 | c.2585G>T (p.Arg862Ile) n.2041G>T c.2261G>T (p.Arg754Ile) c.158G>T (p.Arg53Ile) c.2600G>T (p.Arg867Ile) c.920G>T (p.Arg307Ile) | |
X | g.108620334_108620406delinsGAGGCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGACCTCCAGGATCACCAGGGCTTCCAGGAAAAGC | CA2450695956 | COL4A5 | c.2585_2657delinsGAGGCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGACCTCCAGGATCACCAGGGCTTCCAGGAAAAGC (p.Arg862=) n.2041_2113delinsGAGGCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGACCTCCAGGATCACCAGGGCTTCCAGGAAAAGC c.2261_2333delinsGAGGCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGACCTCCAGGATCACCAGGGCTTCCAGGAAAAGC (p.Arg754=) c.158_230delinsGAGGCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGACCTCCAGGATCACCAGGGCTTCCAGGAAAAGC (p.Arg53=) c.2600_2672delinsGAGGCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGACCTCCAGGATCACCAGGGCTTCCAGGAAAAGC (p.Arg867=) c.920_992delinsGAGGCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGACCTCCAGGATCACCAGGGCTTCCAGGAAAAGC (p.Arg307=) | |
X | g.108620335A>C | CA413851403 | COL4A5 | c.2586A>C (p.Arg862Ser) n.2042A>C c.2262A>C (p.Arg754Ser) c.159A>C (p.Arg53Ser) c.2601A>C (p.Arg867Ser) c.921A>C (p.Arg307Ser) | |
X | g.108620335A>G | CA517924100 | COL4A5 | c.2586A>G (p.Arg862=) n.2042A>G c.2262A>G (p.Arg754=) c.159A>G (p.Arg53=) c.2601A>G (p.Arg867=) c.921A>G (p.Arg307=) | |
X | g.108620335A>T | CA413851404 | COL4A5 | c.2586A>T (p.Arg862Ser) n.2042A>T c.2262A>T (p.Arg754Ser) c.159A>T (p.Arg53Ser) c.2601A>T (p.Arg867Ser) c.921A>T (p.Arg307Ser) | |
X | g.108620338_108620373del | CA2695235217 | COL4A5 | c.2589_2624del (p.Ser864_Gly875del) n.2045_2080del c.2265_2300del (p.Ser756_Gly767del) c.162_197del (p.Ser55_Gly66del) c.2604_2639del (p.Ser869_Gly880del) c.924_959del (p.Ser309_Gly320del) | |
X | g.108620338_108620409del | CA891843942 | COL4A5 | c.2589_2660del (p.Ser864_Gly887del) n.2045_2116del c.2265_2336del (p.Ser756_Gly779del) c.162_233del (p.Ser55_Gly78del) c.2604_2675del (p.Ser869_Gly892del) c.924_995del (p.Ser309_Gly332del) | |
X | g.108620336G>A | CA413851405 | COL4A5 | c.2587G>A (p.Gly863Ser) n.2043G>A c.2263G>A (p.Gly755Ser) c.160G>A (p.Gly54Ser) c.2602G>A (p.Gly868Ser) c.922G>A (p.Gly308Ser) | ClinVar dbSNP |
X | g.108620336G>C | CA413851406 | COL4A5 | c.2587G>C (p.Gly863Arg) n.2043G>C c.2263G>C (p.Gly755Arg) c.160G>C (p.Gly54Arg) c.2602G>C (p.Gly868Arg) c.922G>C (p.Gly308Arg) | |
X | g.108620336G= | CA2450695957 | COL4A5 | c.2587G= (p.Gly863=) n.2043G= c.2263G= (p.Gly755=) c.160G= (p.Gly54=) c.2602G= (p.Gly868=) c.922G= (p.Gly308=) | |
X | g.108620336G>T | CA413851407 | COL4A5 | c.2587G>T (p.Gly863Cys) n.2043G>T c.2263G>T (p.Gly755Cys) c.160G>T (p.Gly54Cys) c.2602G>T (p.Gly868Cys) c.922G>T (p.Gly308Cys) | |
X | g.108620337G>A | CA413851408 | COL4A5 | c.2588G>A (p.Gly863Asp) n.2044G>A c.2264G>A (p.Gly755Asp) c.161G>A (p.Gly54Asp) c.2603G>A (p.Gly868Asp) c.923G>A (p.Gly308Asp) | |
X | g.108620337G>C | CA413851409 | COL4A5 | c.2588G>C (p.Gly863Ala) n.2044G>C c.2264G>C (p.Gly755Ala) c.161G>C (p.Gly54Ala) c.2603G>C (p.Gly868Ala) c.923G>C (p.Gly308Ala) | |
X | g.108620337G>T | CA413851410 | COL4A5 | c.2588G>T (p.Gly863Val) n.2044G>T c.2264G>T (p.Gly755Val) c.161G>T (p.Gly54Val) c.2603G>T (p.Gly868Val) c.923G>T (p.Gly308Val) | |
X | g.108620337_108620338delinsGC | CA2450695958 | COL4A5 | c.2588_2589delinsGC (p.Gly863=) n.2044_2045delinsGC c.2264_2265delinsGC (p.Gly755=) c.161_162delinsGC (p.Gly54=) c.2603_2604delinsGC (p.Gly868=) c.923_924delinsGC (p.Gly308=) | |
X | g.108620338del | CA891843943 | COL4A5 | c.2589del (p.Ser864ValfsTer11) n.2045del c.2265del (p.Ser756ValfsTer11) c.162del (p.Ser55ValfsTer11) c.2604del (p.Ser869ValfsTer11) c.924del (p.Ser309ValfsTer11) | |
X | g.108620338C>A | CA517924105 | COL4A5 | c.2589C>A (p.Gly863=) n.2045C>A c.2265C>A (p.Gly755=) c.162C>A (p.Gly54=) c.2604C>A (p.Gly868=) c.924C>A (p.Gly308=) | |
X | g.108620338C>G | CA517924106 | COL4A5 | c.2589C>G (p.Gly863=) n.2045C>G c.2265C>G (p.Gly755=) c.162C>G (p.Gly54=) c.2604C>G (p.Gly868=) c.924C>G (p.Gly308=) | |
X | g.108620338C>T | CA517924107 | COL4A5 | c.2589C>T (p.Gly863=) n.2045C>T c.2265C>T (p.Gly755=) c.162C>T (p.Gly54=) c.2604C>T (p.Gly868=) c.924C>T (p.Gly308=) | gnomAD v4 |
X | g.108620338_108620374delinsCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGA | CA2450695959 | COL4A5 | c.2589_2625delinsCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGA (p.Gly863=) n.2045_2081delinsCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGA c.2265_2301delinsCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGA (p.Gly755=) c.162_198delinsCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGA (p.Gly54=) c.2604_2640delinsCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGA (p.Gly868=) c.924_960delinsCAGTCCAGGGATCCCCGGAGCACCTGGTCCTATAGGA (p.Gly308=) | |
X | g.108620339A>C | CA413851411 | COL4A5 | c.2590A>C (p.Ser864Arg) n.2046A>C c.2266A>C (p.Ser756Arg) c.163A>C (p.Ser55Arg) c.2605A>C (p.Ser869Arg) c.925A>C (p.Ser309Arg) | |
X | g.108620339A>G | CA413851412 | COL4A5 | c.2590A>G (p.Ser864Gly) n.2046A>G c.2266A>G (p.Ser756Gly) c.163A>G (p.Ser55Gly) c.2605A>G (p.Ser869Gly) c.925A>G (p.Ser309Gly) | |
X | g.108620339A>T | CA413851413 | COL4A5 | c.2590A>T (p.Ser864Cys) n.2046A>T c.2266A>T (p.Ser756Cys) c.163A>T (p.Ser55Cys) c.2605A>T (p.Ser869Cys) c.925A>T (p.Ser309Cys) | |
X | g.108620339_108620374del | CA334048999 | COL4A5 | c.2590_2625del (p.Ser864_Gly875del) n.2046_2081del c.2266_2301del (p.Ser756_Gly767del) c.163_198del (p.Ser55_Gly66del) c.2605_2640del (p.Ser869_Gly880del) c.925_960del (p.Ser309_Gly320del) | dbSNP |
X | g.108620340G>A | CA413851414 | COL4A5 | c.2591G>A (p.Ser864Asn) n.2047G>A c.2267G>A (p.Ser756Asn) c.164G>A (p.Ser55Asn) c.2606G>A (p.Ser869Asn) c.926G>A (p.Ser309Asn) | |
X | g.108620340G>C | CA413851415 | COL4A5 | c.2591G>C (p.Ser864Thr) n.2047G>C c.2267G>C (p.Ser756Thr) c.164G>C (p.Ser55Thr) c.2606G>C (p.Ser869Thr) c.926G>C (p.Ser309Thr) | |
X | g.108620340G= | CA2450695960 | COL4A5 | c.2591G= (p.Ser864=) n.2047G= c.2267G= (p.Ser756=) c.164G= (p.Ser55=) c.2606G= (p.Ser869=) c.926G= (p.Ser309=) | |
X | g.108620340G>T | CA334049006 | COL4A5 | c.2591G>T (p.Ser864Ile) n.2047G>T c.2267G>T (p.Ser756Ile) c.164G>T (p.Ser55Ile) c.2606G>T (p.Ser869Ile) c.926G>T (p.Ser309Ile) | dbSNP gnomAD v3 gnomAD v4 |
X | g.108620341T>A | CA413851416 | COL4A5 | c.2592T>A (p.Ser864Arg) n.2048T>A c.2268T>A (p.Ser756Arg) c.165T>A (p.Ser55Arg) c.2607T>A (p.Ser869Arg) c.927T>A (p.Ser309Arg) | |
X | g.108620341T>C | CA517924116 | COL4A5 | c.2592T>C (p.Ser864=) n.2048T>C c.2268T>C (p.Ser756=) c.165T>C (p.Ser55=) c.2607T>C (p.Ser869=) c.927T>C (p.Ser309=) | gnomAD v4 |
X | g.108620341T>G | CA413851417 | COL4A5 | c.2592T>G (p.Ser864Arg) n.2048T>G c.2268T>G (p.Ser756Arg) c.165T>G (p.Ser55Arg) c.2607T>G (p.Ser869Arg) c.927T>G (p.Ser309Arg) | |
X | g.108620341_108620359delinsTCCAGGGATCCCCGGAGCA | CA2450695961 | COL4A5 | c.2592_2610delinsTCCAGGGATCCCCGGAGCA (p.Ser864=) n.2048_2066delinsTCCAGGGATCCCCGGAGCA c.2268_2286delinsTCCAGGGATCCCCGGAGCA (p.Ser756=) c.165_183delinsTCCAGGGATCCCCGGAGCA (p.Ser55=) c.2607_2625delinsTCCAGGGATCCCCGGAGCA (p.Ser869=) c.927_945delinsTCCAGGGATCCCCGGAGCA (p.Ser309=) | |
X | g.108620342C>A | CA413851418 | COL4A5 | c.2593C>A (p.Pro865Thr) n.2049C>A c.2269C>A (p.Pro757Thr) c.166C>A (p.Pro56Thr) c.2608C>A (p.Pro870Thr) c.928C>A (p.Pro310Thr) | |
X | g.108620342C= | CA2450695962 | COL4A5 | c.2593C= (p.Pro865=) n.2049C= c.2269C= (p.Pro757=) c.166C= (p.Pro56=) c.2608C= (p.Pro870=) c.928C= (p.Pro310=) | |
X | g.108620342C>G | CA10488949 | COL4A5 | c.2593C>G (p.Pro865Ala) n.2049C>G c.2269C>G (p.Pro757Ala) c.166C>G (p.Pro56Ala) c.2608C>G (p.Pro870Ala) c.928C>G (p.Pro310Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108620342C>T | CA413851419 | COL4A5 | c.2593C>T (p.Pro865Ser) n.2049C>T c.2269C>T (p.Pro757Ser) c.166C>T (p.Pro56Ser) c.2608C>T (p.Pro870Ser) c.928C>T (p.Pro310Ser) | |
X | g.108620344_108620361del | CA258714 | COL4A5 | c.2595_2612del (p.Gly866_Pro871del) n.2051_2068del c.2271_2288del (p.Gly758_Pro763del) c.168_185del (p.Gly57_Pro62del) c.2610_2627del (p.Gly871_Pro876del) c.930_947del (p.Gly311_Pro316del) | dbSNP |
X | g.108620343C>A | CA413851423 | COL4A5 | c.2594C>A (p.Pro865Gln) n.2050C>A c.2270C>A (p.Pro757Gln) c.167C>A (p.Pro56Gln) c.2609C>A (p.Pro870Gln) c.929C>A (p.Pro310Gln) | |
X | g.108620343C>G | CA413851424 | COL4A5 | c.2594C>G (p.Pro865Arg) n.2050C>G c.2270C>G (p.Pro757Arg) c.167C>G (p.Pro56Arg) c.2609C>G (p.Pro870Arg) c.929C>G (p.Pro310Arg) | |
X | g.108620343C>T | CA413851426 | COL4A5 | c.2594C>T (p.Pro865Leu) n.2050C>T c.2270C>T (p.Pro757Leu) c.167C>T (p.Pro56Leu) c.2609C>T (p.Pro870Leu) c.929C>T (p.Pro310Leu) | |
X | g.108620344A= | CA2450695963 | COL4A5 | c.2595A= (p.Pro865=) n.2051A= c.2271A= (p.Pro757=) c.168A= (p.Pro56=) c.2610A= (p.Pro870=) c.930A= (p.Pro310=) | |
X | g.108620344A>C | CA517924120 | COL4A5 | c.2595A>C (p.Pro865=) n.2051A>C c.2271A>C (p.Pro757=) c.168A>C (p.Pro56=) c.2610A>C (p.Pro870=) c.930A>C (p.Pro310=) | |
X | g.108620344A>G | CA517924121 | COL4A5 | c.2595A>G (p.Pro865=) n.2051A>G c.2271A>G (p.Pro757=) c.168A>G (p.Pro56=) c.2610A>G (p.Pro870=) c.930A>G (p.Pro310=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108620344A>T | CA517924122 | COL4A5 | c.2595A>T (p.Pro865=) n.2051A>T c.2271A>T (p.Pro757=) c.168A>T (p.Pro56=) c.2610A>T (p.Pro870=) c.930A>T (p.Pro310=) | |
X | g.108620345G>A | CA413851429 | COL4A5 | c.2596G>A (p.Gly866Arg) n.2052G>A c.2272G>A (p.Gly758Arg) c.169G>A (p.Gly57Arg) c.2611G>A (p.Gly871Arg) c.931G>A (p.Gly311Arg) | |
X | g.108620345G>C | CA413851430 | COL4A5 | c.2596G>C (p.Gly866Arg) n.2052G>C c.2272G>C (p.Gly758Arg) c.169G>C (p.Gly57Arg) c.2611G>C (p.Gly871Arg) c.931G>C (p.Gly311Arg) | |
X | g.108620345G>T | CA413851432 | COL4A5 | c.2596G>T (p.Gly866Trp) n.2052G>T c.2272G>T (p.Gly758Trp) c.169G>T (p.Gly57Trp) c.2611G>T (p.Gly871Trp) c.931G>T (p.Gly311Trp) | COSMIC |
X | g.108620346G>A | CA258717 | COL4A5 | c.2597G>A (p.Gly866Glu) n.2053G>A c.2273G>A (p.Gly758Glu) c.170G>A (p.Gly57Glu) c.2612G>A (p.Gly871Glu) c.932G>A (p.Gly311Glu) | ClinVar dbSNP |
X | g.108620346G>C | CA413851438 | COL4A5 | c.2597G>C (p.Gly866Ala) n.2053G>C c.2273G>C (p.Gly758Ala) c.170G>C (p.Gly57Ala) c.2612G>C (p.Gly871Ala) c.932G>C (p.Gly311Ala) | |
X | g.108620346G= | CA2450695964 | COL4A5 | c.2597G= (p.Gly866=) n.2053G= c.2273G= (p.Gly758=) c.170G= (p.Gly57=) c.2612G= (p.Gly871=) c.932G= (p.Gly311=) | |
X | g.108620346G>T | CA413851435 | COL4A5 | c.2597G>T (p.Gly866Val) n.2053G>T c.2273G>T (p.Gly758Val) c.170G>T (p.Gly57Val) c.2612G>T (p.Gly871Val) c.932G>T (p.Gly311Val) | COSMIC COSMIC |
X | g.108620347G>A | CA517924127 | COL4A5 | c.2598G>A (p.Gly866=) n.2054G>A c.2274G>A (p.Gly758=) c.171G>A (p.Gly57=) c.2613G>A (p.Gly871=) c.933G>A (p.Gly311=) | |
X | g.108620347G>C | CA10488950 | COL4A5 | c.2598G>C (p.Gly866=) n.2054G>C c.2274G>C (p.Gly758=) c.171G>C (p.Gly57=) c.2613G>C (p.Gly871=) c.933G>C (p.Gly311=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.108620347G= | CA2450695965 | COL4A5 | c.2598G= (p.Gly866=) n.2054G= c.2274G= (p.Gly758=) c.171G= (p.Gly57=) c.2613G= (p.Gly871=) c.933G= (p.Gly311=) | |
X | g.108620347G>T | CA517924128 | COL4A5 | c.2598G>T (p.Gly866=) n.2054G>T c.2274G>T (p.Gly758=) c.171G>T (p.Gly57=) c.2613G>T (p.Gly871=) c.933G>T (p.Gly311=) | |
X | g.108620348A>C | CA413851439 | COL4A5 | c.2599A>C (p.Ile867Leu) n.2055A>C c.2275A>C (p.Ile759Leu) c.172A>C (p.Ile58Leu) c.2614A>C (p.Ile872Leu) c.934A>C (p.Ile312Leu) | |
X | g.108620348A>G | CA413851440 | COL4A5 | c.2599A>G (p.Ile867Val) n.2055A>G c.2275A>G (p.Ile759Val) c.172A>G (p.Ile58Val) c.2614A>G (p.Ile872Val) c.934A>G (p.Ile312Val) | |
X | g.108620348A>T | CA413851442 | COL4A5 | c.2599A>T (p.Ile867Phe) n.2055A>T c.2275A>T (p.Ile759Phe) c.172A>T (p.Ile58Phe) c.2614A>T (p.Ile872Phe) c.934A>T (p.Ile312Phe) | |
X | g.108620349T>A | CA413851443 | COL4A5 | c.2600T>A (p.Ile867Asn) n.2056T>A c.2276T>A (p.Ile759Asn) c.173T>A (p.Ile58Asn) c.2615T>A (p.Ile872Asn) c.935T>A (p.Ile312Asn) | |
X | g.108620349T>C | CA10488951 | COL4A5 | c.2600T>C (p.Ile867Thr) n.2056T>C c.2276T>C (p.Ile759Thr) c.173T>C (p.Ile58Thr) c.2615T>C (p.Ile872Thr) c.935T>C (p.Ile312Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.108620349T>G | CA413851446 | COL4A5 | c.2600T>G (p.Ile867Ser) n.2056T>G c.2276T>G (p.Ile759Ser) c.173T>G (p.Ile58Ser) c.2615T>G (p.Ile872Ser) c.935T>G (p.Ile312Ser) | |
X | g.108620349T= | CA2450695966 | COL4A5 | c.2600T= (p.Ile867=) n.2056T= c.2276T= (p.Ile759=) c.173T= (p.Ile58=) c.2615T= (p.Ile872=) c.935T= (p.Ile312=) | |
X | g.108620349dup | CA2739290539 | COL4A5 | c.2600dup (p.Gly869ArgfsTer29) n.2056dup c.2276dup (p.Gly761ArgfsTer29) c.173dup (p.Gly60ArgfsTer29) c.2615dup (p.Gly874ArgfsTer29) c.935dup (p.Gly314ArgfsTer29) | |
X | g.108620349_108620350delinsTC | CA2450695967 | COL4A5 | c.2600_2601delinsTC (p.Ile867=) n.2056_2057delinsTC c.2276_2277delinsTC (p.Ile759=) c.173_174delinsTC (p.Ile58=) c.2615_2616delinsTC (p.Ile872=) c.935_936delinsTC (p.Ile312=) | |
X | g.108620350C>A | CA517924135 | COL4A5 | c.2601C>A (p.Ile867=) n.2057C>A c.2277C>A (p.Ile759=) c.174C>A (p.Ile58=) c.2616C>A (p.Ile872=) c.936C>A (p.Ile312=) | |
X | g.108620350C>G | CA413851448 | COL4A5 | c.2601C>G (p.Ile867Met) n.2057C>G c.2277C>G (p.Ile759Met) c.174C>G (p.Ile58Met) c.2616C>G (p.Ile872Met) c.936C>G (p.Ile312Met) | gnomAD v4 |
X | g.108620350C>T | CA517924136 | COL4A5 | c.2601C>T (p.Ile867=) n.2057C>T c.2277C>T (p.Ile759=) c.174C>T (p.Ile58=) c.2616C>T (p.Ile872=) c.936C>T (p.Ile312=) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
X | g.108620353del | CA658656866 | COL4A5 | c.2604del (p.Gly869GlufsTer6) n.2060del c.2280del (p.Gly761GlufsTer6) c.177del (p.Gly60GlufsTer6) c.2619del (p.Gly874GlufsTer6) c.939del (p.Gly314GlufsTer6) | ClinVar dbSNP |